| Sample search results for: aarskog-scott syndrome clinical |
| 1 | MOLECULAR (DNA) TEST REQUISITION FOR CHG LAB USE ONLY: Center for Human Genetics, Inc. Date received: ________________________________ | ||
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Summary: testing (Call before sending samples) Aarskog Scott syndrome: FGD1 analysis BRAF sequencing only MAP2K1... : _________________________________ Page 1 of 3 Rev. 10/02/2008 #12;MOLECULAR (DNA) TEST REQUISITION FOR CHG LAB USE ONLY: CLINICAL... panel LEOPARD syndrome comprehensive panel ... |
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Source: Baloh, Bob - Department of Neurology, Washington University in St. Louis |
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Collection: Biology and Medicine |
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| 2 | ORIGINAL ARTICLE Evolutionary genomics of human intellectual disability | ||
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Summary: in a patient with classical Aarskog-Scott syndrome due to a novel missense mutation in an evolutionary... effects Developmental-genetic functions Genes in Rho-GTPase pathway FGD1 Mutations cause Aarskog-Scott... between Nijmegen Breakage Syndrome and Fanconi Anemia. Clinical Immunology ... |
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Source: Crespi, Bernard J. - Department of Biological Sciences, Simon Fraser University |
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Collection: Environmental Sciences and Ecology |
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| 3 | Etiologicalheterogeneityinautismspectrumdisorders:morethan100 geneticandgenomicdisordersandstillcounting | ||
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Summary: .OthermonogenicdisordersdescribedinASD includetuberoussclerosis(TSC1,TSC2),neurofibromatosis(NF1),Angelmansyndrome(UBE3A),Rett syndrome(MECP2)and... (PhelanMcDermid syndrome),EHMT1inthe9q34.3subtelomericdeletionsyndrome(Kleefstrasyndrome),andMEF2C inthe5q14... CorneliadeLangesyndrome,hasbeenreportedtobemutatedinasinglecasewith ... |
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Source: Ecole Polytechnique, Centre de mathématiques |
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Collection: Mathematics |
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| 4 | Protein & Peptide Letters, 2009, 16, 1533-1547 1533 0929-8665/09 $55.00+.00 2009 Bentham Science Publishers Ltd. | ||
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Summary: . Alport syndrome is a hereditary disease of the kidneys that primarily affects men, causing blood... -sensitive sodium-chloride co-transporter (NCCT), are associated with the development of Gitelman syndrome, a rare... chondroectodermal dysplasia Ellis-van Creveld syndrome [45]. Fig. (1F) shows that EVC protein is predicted |
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Source: Obradovic, Zoran - Center for Information Science and Technology & Department of Computer and Information Sciences, Temple University |
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Collection: Computer Technologies and Information Sciences |
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| 5 | Truncation of c-Mip (Tc-mip) , a new proximal signaling protein, induces c-maf-dependent Th2 | ||
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Summary: and characterization of the faciogenital dysplasia (Aarskog- Scott syndrome) gene: a putative Rho/Rac guanine... ;2 Summary Several arguments suggest that Minimal Change Nephrotic Syndrome (MCNS) results from yet unknown... ;3 Introduction Minimal Change Nephrotic Syndrome (MCNS) is the ... |
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Source: Ecole Polytechnique, Centre de mathématiques |
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Collection: Mathematics |
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| 6 | Genes in Eyecare geneseyedoc 3 W.M. Lyle and T.D. Williams 15 Mar 04 | ||
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Summary: from readers are welcomed. A. Name Gene Comments Aarskog-Scott, facial-digital-genital syndrome. (XR... and Clinical Medicine by M.R. Seashore and R.S.Wappner, Appleton and Lange 1996. M. Ridley's book Genome... . Roy's book Ocular Syndromes and Systemic Diseases published by Lippincott Williams & Wilkins ... |
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Source: Le Roy, Robert J. - Department of Chemistry, University of Waterloo |
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Collection: Chemistry |
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| 7 | Rho-family GTPases comprise a main branch of the Ras superfamily of small (~21 kDa) GTPases . So far, | ||
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Summary: Aldrich syndrome protein (WASP) to its SRC-HOMOLOGY-3 (SH3) DOMAIN 69 . As WASP is a downstream effector |
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Source: Sondek, John - Departments of Pharmacology & Biochemistry and Biophysics, University of North Carolina at Chapel Hill |
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Collection: Biology and Medicine |
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| 8 | 0606CS19744 Tourette Syndrome Center | ||
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Summary: 0606CS19744 Tourette Syndrome Center and Childhood Movement Disorders Clinic Baylor College... Children's Hospital. The Tourette Syndrome Center and Childhood Movement Disorders Clinic is directed by Dr... Childhood Movement Disorders Clinic Syndrome Center and ... |
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Source: Lichtarge, Olivier - Department of Molecular and Human Genetics, Baylor College of Medicine |
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Collection: Biotechnology ; Biology and Medicine |
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| 9 | COMMON TYPES OF CHROMOSOME ABNORMALITIES Dr. Fern Tsien, Dept. of Genetics, LSUHSC, NO, LA | ||
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Summary: with Down syndrome have three copies of their 21 chromosomes instead of the normal two. The major clinical... . Chromosome microdeletion region Contiguous gene syndrome Clinical features 4p16.3 Wolf-Hirshhorn syndrome... syndrome or Trisomy 21, is the most common ... |
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Source: Louisiana State University Health Sciences Center in New Orleans, Department of Biochemistry and Molecular Biology |
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Collection: Biology and Medicine |
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| 10 | Hosted by the Madison Area Down Syndrome Society and the Waisman Center, University of Wisconsin-Madison | ||
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Summary: Hosted by the Madison Area Down Syndrome Society and the Waisman Center, University of Wisconsin... -Madison Sponsored by the Friends of the Waisman Center Down Syndrome: A Day with the Experts "Advancing Knowledge... about Down Syndrome Across the Life Course" First Annual WAISMAN CENTER www.waisman.wisc.edu Saturday |
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Source: Wisconsin at Madison, University of - Waisman Laboratory for Brain Imaging and Behavior |
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Collection: Biology and Medicine |
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| 11 | Information for Patients and Families What is Sotos syndrome? | ||
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Summary: clinically at The University of Chicago Genetics Services Laboratory. Testing for Sotos syndrome is done... that your child has Sotos syndrome, you should arrange for an appointment in a Genetics Clinic. Your doctor... 5/10 Information for Patients and Families What is Sotos syndrome? ... |
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Source: Das, Soma - Department of Human Genetics, University of Chicago |
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Collection: Biology and Medicine |
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| 12 | Information for Patients and Families What is Sotos syndrome? | ||
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Summary: clinically at The University of Chicago Genetics Services Laboratory. Testing for Sotos syndrome is done... that your child has Sotos syndrome, you should arrange for an appointment in a Genetics Clinic. Your doctor... 5/10 Information for Patients and Families What is Sotos syndrome? ... |
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Source: Das, Soma - Department of Human Genetics, University of Chicago |
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Collection: Biology and Medicine |
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| 13 | INTRODUCTION With the sequencing of the human genome | ||
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Summary: Folda 1. Aarskog-Scott Syndrome >gi | 595425 | gb | AAA57004.1 | (U11690) FGD1 (961 aa) 372- 691 1dbh_ 2... , proteins responsible for adrenoleukodystrophy and the Cockayne syndrome, respectively, were analyzed... : Adrenoleukodystrophy; the Cockayne syndrome; disease mutation; sequence alignment; homology ... |
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Source: Weston, Ken - Department of Chemistry and Biochemistry, Florida State University |
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Collection: Chemistry |
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| 14 | Identification of TRIO-GEFD1 chemical inhibitors using the Yeast Exchange Anne Blangy, *Nathalie Bouquier, *Ccile Gauthier-Rouvire, *Susanne | ||
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Summary: characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation |
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Source: Ecole Polytechnique, Centre de mathématiques |
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Collection: Mathematics |
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| 15 | Down Syndrome What causes Down syndrome? | ||
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Summary: D R E S O U R C E S #12;Down Syndrome Down Syndrome Clinic The Monroe Carell Jr. Children's Hospital... Down Syndrome What causes Down syndrome? Individuals with Down syndrome usually have an extra copy... syndrome occurs in about 1 in every 700 ... |
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Source: Palmeri, Thomas - Department of Psychology, Vanderbilt University |
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Collection: Biology and Medicine |
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| 16 | Angelman Syndrome What is Angelman syndrome? | ||
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Summary: Angelman Syndrome What is Angelman syndrome? Angelman syndrome is a genetic disorder... that causes developmental delay and neurological problems. Angelman syndrome is thought to occur in about 1... with Angelman syndrome. What causes Angelman syndrome? ... |
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Source: Palmeri, Thomas - Department of Psychology, Vanderbilt University |
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Collection: Biology and Medicine |
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| 17 | Information for Patients and Families What is Sotos syndrome? | ||
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Summary: clinically at The University of Chicago Genetics Services Laboratory. Testing for Sotos syndrome is done... that your child has Sotos syndrome, you should arrange for an appointment in a Genetics Clinic. Your doctor... 6/11 Information for Patients and Families What is Sotos syndrome? ... |
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Source: Ober, Carole - Committee on Genetics & Department of Human Genetics, University of Chicago |
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Collection: Biology and Medicine |
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| 18 | The Clinical Neuropsychologist Russell M. Bauer, Ph.D. and Jerry J. Sweet, Ph.D., Editors | ||
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Summary: in the title, and (2) clinical problem-solving cases, where the diagnosis/syndrome/disorder is not revealed... The Clinical Neuropsychologist Russell M. Bauer, Ph.D. and Jerry J. Sweet, Ph.D., Editors Presents... Grand Rounds in Clinical Neuropsychology Joel E. Morgan, Ph.D., Section Editor Overview: Grand ... |
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Source: Grant, James D.E. - Fakultät für Mathematik, Universität Wien |
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Collection: Mathematics |
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| 19 | CHARGE syndrome: Coloboma Heart defect | ||
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Summary: was given to this syndrome for its cardinal clinical features. Blake et al (1998) suggested the following... criteria, which are more widely accepted. Clinical diagnosis of CHARGE syndrome requires 4 major signs or 3... other features have been seen in patients with the clinical ... |
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Source: Das, Soma - Department of Human Genetics, University of Chicago |
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Collection: Biology and Medicine |
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| 20 | CHARGE syndrome: Coloboma Heart defect | ||
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Summary: was given to this syndrome for its cardinal clinical features. Blake et al (1998) suggested the following... criteria, which are more widely accepted. Clinical diagnosis of CHARGE syndrome requires 4 major signs or 3... other features have been seen in patients with the clinical ... |
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Source: Gilad, Yoav - Department of Human Genetics, University of Chicago |
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Collection: Biology and Medicine |
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| 21 | Discovery Lecturer offers Rett syndrome insights BY: LEIGH MACMILLAN | ||
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Summary: Discovery Lecturer offers Rett syndrome insights BY: LEIGH MACMILLAN 3/31/2011 - During her first... . The year was 1983. Zoghbi had read a new report in the Annals of Neurology describing Rett syndrome... hand use/hand-wringing in girls. She walked into a clinic the same week she read the report and saw |
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Source: Palmeri, Thomas - Department of Psychology, Vanderbilt University |
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Collection: Biology and Medicine |
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| 22 | Information for Patients and Families What is Angelman syndrome? | ||
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Summary: 3/10 Information for Patients and Families What is Angelman syndrome? Angelman syndrome is a rare... . Individuals with Angelman syndrome can also have frequent laughter and a happy attitude. It is important... to remember that there is a lot of variability in the features of individuals with Angelman syndrome |
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Source: Das, Soma - Department of Human Genetics, University of Chicago |
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Collection: Biology and Medicine |
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| 23 | Original article The metabolic syndrome can be assessed practically from a continuous score using principal | ||
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Summary: this continuous metabolic syndrome score could be translated into a useful clinical tool (Fig. 1) to evaluate both... developed by expert committees as a clinically useful means of evaluating the metabolic syndrome... Original article The metabolic syndrome can be assessed practically ... |
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Source: Ecole Polytechnique, Centre de mathématiques |
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Collection: Mathematics |
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| 24 | Chapter 5 The prevalence of metabolic syndrome in patients with psychotic | ||
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Summary: of the metabolic syndrome in patients with schizophrenia: baseline results from the Clinical Antipsychotic Trials... Chapter 5 The prevalence of metabolic syndrome in patients with psychotic disorders... disorders in the Netherlands we found a prevalence of metabolic syndrome of 33%. This was lower than |
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Source: Groningen, Rijksuniversiteit - Centre for Ecological and Evolutionary Studies, Department of Marine Benthic Ecology and Evolution, |
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Collection: Biology and Medicine ; Environmental Sciences and Ecology |
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| 25 | J Med Genet. 2007 Nov;44(11):73944. Epub 2007 Jul 6. Mutations in the AP1S2 gene encoding the sigma 2 subunit of | ||
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Summary: striking clinical features of Fried syndrome were investigated for linkage to X chromosome markers... 2 subunit of the adaptor protein 1 complex are associated with syndromic Xlinked mental retardation... , Bienvenu T. Fried syndrome, first described in 1972, is a rare Xlinked mental retardation that has been |
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Source: Institut des Sciences Cognitives, CNRS - Laboratoire sur le Langage, Le Cerveau et la Cognition |
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Collection: Biology and Medicine |
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| 26 | Fragile X Syndrome What is fragile X syndrome? | ||
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Summary: Clinics Consortium. It serves children and young adults who have a diagnosis of fragile X syndrome... Fragile X Syndrome What is fragile X syndrome? Fragile X syndrome is the most common inherited... , it becomes inactive and does not make the protein. This lack of protein results in ... |
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Source: Bordenstein, Seth - Department of Biological Sciences, Vanderbilt University |
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Collection: Biology and Medicine |
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| 27 | A Comparison of Chief Complaints and Emergency Department Reports for Identifying Patients with Acute Lower Respiratory Syndrome | ||
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Summary: with Acute Lower Respiratory Syndrome Wendy W. Chapman, PhD1 , John N. Dowling, MD, MS1 , Gregory F. Cooper... of Biomedical Informatics1 and Computer Science2 INTRODUCTION Automated syndromic surveillance systems often... classify patients into syndromic categories based on free-text chief complaints. Chief complaints (CC |
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Source: Paris-Sud XI, Université de - Institut d'Optique, Laboratoire Charles-Fabry, Groupe d'Optique Atomique |
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Collection: Physics |
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| 28 | A Comparison of Chief Complaints and Emergency Department Reports for Identifying Patients with Acute Lower Respiratory Syndrome | ||
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Summary: with Acute Lower Respiratory Syndrome Wendy W. Chapman, PhD1 , John N. Dowling, MD, MS1 , Gregory F. Cooper... of Biomedical Informatics1 and Computer Science2 INTRODUCTION Automated syndromic surveillance systems often... classify patients into syndromic categories based on free-text chief complaints. Chief complaints (CC |
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Source: Hauskrecht, Milos - Department of Computer Science, University of Pittsburgh |
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Collection: Computer Technologies and Information Sciences |
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| 29 | Turn to the worm! Julie Ahringer | ||
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Summary: syndrome, renal Bloom syndrome Werner syndrome Barth syndrome Marfan syndrome Myotonic dystrophy Aarskog-Scott... syndrome PTC (U59464) Thomsen disease C/Cl (225884) Glycerol kinase deficiency GK (Ll3943) Cystic fibrosis... CFTR (M28668) ... |
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Source: Ahringe, Julie - Wellcome Trust/Cancer Research UK Gurdon Institute, University of Cambridge |
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Collection: Biology and Medicine |
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| 30 | Elisabeth May Dykens 3724 Princeton Ave, | ||
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Summary: Scientific Advisory Board, Prader-Willi Syndrome Association (USA) Clinical Advisory Board, Prader... ,000,000 NIH/NCRR Rare Disease Clinical Research Consortium for Angelman/Prader-Wllli syndromes, Project Site... Clinics; provided evaluations interventions for individuals with these and ... |
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Source: Palmeri, Thomas - Department of Psychology, Vanderbilt University |
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Collection: Biology and Medicine |
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| 31 | Chapter 6 The incidence of metabolic syndrome and its reversal in a cohort | ||
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Summary: the metabolic syndrome. Further long-term studies are needed to follow the clinical course of patients who... . Prevalence of the metabolic syndrome in patients with schizophrenia: baseline results from the Clinical... Chapter 6 The incidence of metabolic syndrome and its reversal in a ... |
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Source: Groningen, Rijksuniversiteit - Centre for Ecological and Evolutionary Studies, Department of Marine Benthic Ecology and Evolution, |
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Collection: Biology and Medicine ; Environmental Sciences and Ecology |
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| 32 | Williams Syndrome What causes Williams syndrome? | ||
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Summary: for the Rare Diseases Clinical Research Network's Angelman and Prader-Willi Syndromes Consortium. Two Ways... Williams Syndrome What causes Williams syndrome? Individuals with Williams syndrome usually... in 1961, Williams syndrome affects males and females at equal ... |
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Source: Palmeri, Thomas - Department of Psychology, Vanderbilt University |
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Collection: Biology and Medicine |
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| 33 | Fragile X Syndrome What is fragile X syndrome? | ||
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Summary: Clinics Consortium. It serves children and young adults who have a diagnosis of fragile X syndrome... ) 936-5118. Fragile X Syndrome Reading Clinic This clinic provides intensive, individualized, one... Fragile X Syndrome What is fragile X ... |
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Source: Palmeri, Thomas - Department of Psychology, Vanderbilt University |
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Collection: Biology and Medicine |
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| 34 | David Hessl, Ph.D. Hessl, David, Ph.D., Associate Clinical Professor, Department of Psychiatry and Behavioral | ||
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Summary: and Fragile X Syndrome: Clinical Overview. In: Squire LR (Ed.) Encyclopedia of Neuroscience, volume 3, pp. 487... Advisory Panelist, NICHD Outcome Measures for Clinical Trials with Children with Fragile X Syndrome... David Hessl, Ph.D. Hessl, David, Ph.D., Associate Clinical Professor, ... |
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Source: Nguyen, Danh - Department of Public Health Sciences, University of California, Davis |
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Collection: Biology and Medicine ; Mathematics |
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| 35 | Computer-based recognition of dysmorphic faces Hartmut S Loos1 | ||
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Summary: for Cornelia de Lange syndrome, we included only patients who presented with typical clinical findings, that is... envision that the combination of our `syndrome classifier' with established clinical databases17... Genetic syndromes often involve craniofacial malformations. We have ... |
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Source: Würtz, Rolf P. - Institut für Neuroinformatik, Departement Physik, Eidgenössische Technische Hochschule Zürich (ETHZ) |
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Collection: Physics ; Computer Technologies and Information Sciences |
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| 36 | Clinical Features: Rett syndrome is a progressive neurodevelopmental disorder, primarily affecting females. Rett syndrome is | ||
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Summary: 11/09 Clinical Features: Rett syndrome is a progressive neurodevelopmental disorder, primarily... affecting females. Rett syndrome is characterized by acquired microcephaly, loss of purposeful hand... include scoliosis, epilepsy, poor growth, and irregular breathing [1]. There is broad clinical variability |
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Source: Das, Soma - Department of Human Genetics, University of Chicago |
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Collection: Biology and Medicine |
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| 37 | Syndrome identification based on 2D analysis Stefan Boehringer*,1 | ||
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Summary: syndromic conditions with facial dysmorph- isms could be relevant in clinical practice. Here we show... . Additionally, criteria of classifiers can be compared with clinical characteristics of syndromes. Figure 1... -du-chat syndrome on clinical evaluations alone.10 ... |
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Source: Würtz, Rolf P. - Institut für Neuroinformatik, Departement Physik, Eidgenössische Technische Hochschule Zürich (ETHZ) |
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Collection: Physics ; Computer Technologies and Information Sciences |
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| 38 | Clinical Features: Oral-facial-digital syndrome, type 1 | ||
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Summary: 5/10 Clinical Features: Oral-facial-digital syndrome, type 1 Patients with oral... a completed Oral-Facial-Digital Syndrome, Type 1 Clinical Checklist and patient consent form with each sample... -facial-digital syndrome, type 1 (OFD1) [OMIM #311200] have oral (lobed tongue, cleft palate, ... |
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Source: Das, Soma - Department of Human Genetics, University of Chicago |
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Collection: Biology and Medicine |
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| 39 | Clinical Features: Sotos syndrome is characterized by characteristic facial features, developmental delay, and increased height and | ||
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Summary: 6/11 Clinical Features: Sotos syndrome is characterized by characteristic facial features... % of patients with a clinical diagnosis of Sotos syndrome [2,3]. Recently, intragenic deletions of one or more... , and behavioral problems [1]. Inheritance: Sotos syndrome is an autosomal dominant ... |
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Source: Ober, Carole - Committee on Genetics & Department of Human Genetics, University of Chicago |
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Collection: Biology and Medicine |
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| 40 | Clinical Features: Patients with CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects | ||
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Summary: 1/08 Clinical Features: Patients with CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform... identified in patients with CHILD syndrome [2]. This protein functions in the cholesterol biosynthetic... ]. Bornholdt, et al [2005] found mutations in the NSDHL gene in 14/14 patients with a clinical |
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Source: Das, Soma - Department of Human Genetics, University of Chicago |
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Collection: Biology and Medicine |
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| 41 | Clinical Features: Sotos syndrome is characterized by characteristic facial features, developmental delay, and increased height and | ||
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Summary: 5/10 Clinical Features: Sotos syndrome is characterized by characteristic facial features... % of patients with a clinical diagnosis of Sotos syndrome [2,3]. Recently, intragenic deletions of one or more... , and behavioral problems [1]. Inheritance: Sotos syndrome is an autosomal dominant ... |
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Source: Das, Soma - Department of Human Genetics, University of Chicago |
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Collection: Biology and Medicine |
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| 42 | Clinical Features: Patients with CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects | ||
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Summary: 1/08 Clinical Features: Patients with CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform... identified in patients with CHILD syndrome [2]. This protein functions in the cholesterol biosynthetic... ]. Bornholdt, et al [2005] found mutations in the NSDHL gene in 14/14 patients with a clinical |
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Source: Gilad, Yoav - Department of Human Genetics, University of Chicago |
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Collection: Biology and Medicine |
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| 43 | Clinical Features: Sotos syndrome is characterized by characteristic facial features, developmental delay, and increased height and | ||
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Summary: 5/10 Clinical Features: Sotos syndrome is characterized by characteristic facial features... % of patients with a clinical diagnosis of Sotos syndrome [2,3]. Recently, intragenic deletions of one or more... , and behavioral problems [1]. Inheritance: Sotos syndrome is an autosomal dominant ... |
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Source: Gilad, Yoav - Department of Human Genetics, University of Chicago |
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Collection: Biology and Medicine |
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| 44 | Clinical Features: Rett syndrome is a progressive neurodevelopmental disorder, primarily affecting females. Rett syndrome is | ||
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Summary: 6/11 Clinical Features: Rett syndrome is a progressive neurodevelopmental disorder, primarily... affecting females. Rett syndrome is characterized by acquired microcephaly, loss of purposeful hand... include scoliosis, epilepsy, poor growth, and irregular breathing. There is broad clinical variability |
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Source: Ober, Carole - Committee on Genetics & Department of Human Genetics, University of Chicago |
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Collection: Biology and Medicine |
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| 45 | Integrated Training in Microbiology and Infectious Diseases Joseph M. Vinetz, M.D. | ||
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Summary: of their assigned physician-scientist mentor, the students will abstract patients' clinical syndromes from clinical... infectious diseases syndromes that they will see. Routine issues discussed in the clinical context include... diseases and microbial pathogenesis related to ... |
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Source: Gleeson, Joseph G. - Department of Neurosciences, University of California at San Diego |
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Collection: Biology and Medicine |
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| 46 | 14/11/2007 1/38 A REVIEW OF THE METABOLIC SYNDROME | ||
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Summary: the abnormalities might be slight. Further, the syndrome can be easily used in clinical practice and when... ], they are rarely used in clinical practice. The syndrome is an easy concept enabling a physician to identify... . In clinical practice either the NCEP-ATP III or the IDF or the ... |
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Source: Ecole Polytechnique, Centre de mathématiques |
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Collection: Mathematics |
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| 47 | PSYCHOLOGY 4C03 Language Disorders in Childhood | ||
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Summary: to discussing a particular aspect of all disorders January 13: Clinical description of syndrome 20: Neurological... syndrome. They should give details of the clinical, neurological and behavioural characteristics, as well... correlates of syndrome 27: General cognitive & affective ... |
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Source: Dukas, Reuven - Department of Psychology, McMaster University |
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Collection: Environmental Sciences and Ecology |
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| 48 | This oligonucleotide microarray-based assay allows for the detection of exonic deletions or duplications of 45 genes currently tested by sequence analysis in our laboratory. This is a custom designed array by Agilent | ||
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Summary: changes as small as 300- 400 bp. Single genes and custom panels of clinically related genes can... /duplication analysis by array-CGH Disorder Gene Disorder Gene Allan-Herndon-Dudley syndrome MCT8 Neonatal diabetes KCNJ... 11 Angelman syndrome UBE3A, SLC9A6 Neurodegeneration with Brain iron accumulation (NBIA) PANK2*, PLA2 |
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Source: Stephens, Matthew - Departments of Statistics & Human Genetics, University of Chicago |
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Collection: Biology and Medicine ; Mathematics |
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| 49 | Clinical Features: Goldberg-Shprintzen megacolon syndrome (GOSHS, OMIM #609460) is a multiple malformation disorder | ||
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Summary: 12/11 Clinical Features: Goldberg-Shprintzen megacolon syndrome (GOSHS, OMIM #609460) is a multiple... -craniosynostosis (Shprintzen-Goldberg) syndrome. Nature Genet. 1996. 12:209-211 7. Bassett, AS., Clinical features of 78 adults... and prominent nose [4]. Differential Diagnosis: Mowat-Wilson ... |
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Source: Das, Soma - Department of Human Genetics, University of Chicago |
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Collection: Biology and Medicine |
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| 50 | Association between metabolic syndrome and depressive symptoms in middle-aged adults: results from the Whitehall II study | ||
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Summary: , Byberg L , Zethelius B , Lithell H , Lind L Clinical value of the metabolic syndrome for long term... Association between metabolic syndrome and depressive symptoms in middle-aged adults: results from... that the association between depression and the metabolic syndrome is a two-way street , the metabolic ... |
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Source: Ecole Polytechnique, Centre de mathématiques |
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Collection: Mathematics |
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| 51 | Association between metabolic syndrome and depressive symptoms in middle-aged adults: Results from the Whitehall II study | ||
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Summary: 1 Association between metabolic syndrome and depressive symptoms in middle-aged adults: Results... from the Whitehall II study Running Title: metabolic syndrome and depressive symptoms Tasnime N... and the metabolic syndrome is a "two- way street", the metabolic syndrome as a predictor of depression has been |
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Source: Ecole Polytechnique, Centre de mathématiques |
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Collection: Mathematics |
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| 52 | ORAL MEDICINE CLINICAL CENTER Oral Medicine Oral AIDS Center Sjgren's Syndrome Clinic | ||
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Summary: ORAL MEDICINE CLINICAL CENTER Oral Medicine Oral AIDS Center Sjögren's Syndrome Clinic... University of California San Francisco 521 Parnassus (Clinical Sciences Building) Room C-646 San Francisco... , CA 94143-0422 Clinic Phone: (415) 476-2045 DIRECTIONS TO THE ... |
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Source: Derisi, Joseph - Department of Biochemistry and Biophysics, University of California at San Francisco |
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Collection: Biotechnology ; Biology and Medicine |
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| 53 | Computer Usage by Young Individuals with Down Syndrome: An Exploratory Study | ||
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Summary: Computer Usage by Young Individuals with Down Syndrome: An Exploratory Study Jinjuan Feng, Jonathan... that investigates how children and young adults with Down syndrome use computers and computer-related devices... . The survey responses cover 561 individuals with Down syndrome between the age of four to 21. The survey |
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Source: Lazar, Jonathan - Department of Computer and Information Sciences, Towson University |
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Collection: Computer Technologies and Information Sciences |
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| 54 | Search RSDSA This graphic illustrates the abnormal | ||
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Summary: of people with complex regional pain syndrome. The colours indicate areas of damage. (Courtesy: Northwestern... ABOUT CRPS What is CRPS? Fact & Fiction Related Sites MEDICAL Clinical Guidelines Research Treatment... Education Research/Clinical Articles PATIENT Stories of Hope Support Groups Resources Awareness Youth MEDIA |
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Source: Apkarian, A. Vania - Department of Physiology, Northwestern University |
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Collection: Biology and Medicine |
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| 55 | The Wellcome Trust is a charity registered in England, no. 210183. Its sole Trustee is The Wellcome Trust Limited, a company registered in England, | ||
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Summary: 400 known syndromes associated with cleft lip and/or palate; these `syndromic' cases are also... associated with other physical problems in the case of Van der Woude syndrome, for example, missing teeth... disorders causing cleft lip and palate, including: Treacher Collins syndrome, Papillon-Lefevre ... |
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Source: Rambaut, Andrew - School of Biological Sciences, University of Edinburgh |
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Collection: Biology and Medicine |
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| 56 | Clinical Features: Infantile spasms involve momentary flexion of the neck, trunk, or extremities, onsetting within the first year of life | ||
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Summary: with a clinical diagnosis of West syndrome/cryptogenic infantile spasms and X- linked mental retardation may have... 11/09 Clinical Features: Infantile spasms involve momentary flexion of the neck, trunk... develop other seizures and have severe developmental delays. West syndrome is the triad of infantile |
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Source: Das, Soma - Department of Human Genetics, University of Chicago |
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Collection: Biology and Medicine |
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| 57 | Clinical Features: Seckel syndrome (OMIM#210600) and Microcephalic Osteodysplastic Primordial Dwarfistm type II (MOPDII, | ||
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Summary: 10/11 Clinical Features: Seckel syndrome (OMIM#210600) and Microcephalic Osteodysplastic Primordial... /16 patients diagnosed with Seckel syndrome [2]. Clinical analysis of Seckel cases with PCNT mutations showed... characterized by intrauterine growth retardation, dwarfism, and microcephaly. Characteristics ... |
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Source: Ober, Carole - Committee on Genetics & Department of Human Genetics, University of Chicago; Stephens, Matthew - Departments of Statistics & Human Genetics, University of Chicago |
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Collection: Biology and Medicine ; Mathematics |
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| 58 | Clinical Features: Seckel syndrome (OMIM#210600) and Microcephalic Osteodysplastic Primordial Dwarfistm type II (MOPDII, | ||
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Summary: 10/11 Clinical Features: Seckel syndrome (OMIM#210600) and Microcephalic Osteodysplastic Primordial... /16 patients diagnosed with Seckel syndrome [2]. Clinical analysis of Seckel cases with PCNT mutations showed... characterized by intrauterine growth retardation, dwarfism, and microcephaly. Characteristics ... |
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Source: Ober, Carole - Committee on Genetics & Department of Human Genetics, University of Chicago |
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Collection: Biology and Medicine |
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| 59 | Am J Psychiatry 158:10, October 2001 1659 Neuroanatomy of Down's Syndrome | ||
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Summary: . All subjects with Down's syndrome were recruited through the Down Syndrome Clinic at the Kennedy... by clinical examination by one of the authors (G.T.C.), as well as by karyotype. All Down's syndrome subjects... Am J Psychiatry 158:10, October 2001 1659 Article Neuroanatomy of Down's ... |
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Source: Stanford University - Center for Interdisciplinary Brain Sciences Research |
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Collection: Biology and Medicine |
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| 60 | Am J Psychiatry 157:3, March 2000 409 Children and Adolescents With Velocardiofacial Syndrome | ||
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Summary: cause. Further, a recent clinical study of 10 velo- cardiofacial syndrome patients with psychosis (43... -facial (Shprintzen) syndrome: clinical variability in eight patients. Eur J Pediatr 1986; 145:539544 12. Shprintzen... Am J Psychiatry 157:3, March 2000 409 Children and Adolescents With Velocardiofacial ... |
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Source: Stanford University - Center for Interdisciplinary Brain Sciences Research |
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Collection: Biology and Medicine |
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| 61 | LABORATORY OF INTEGRATIVE AND SYSTEMS PHYSIOLOGY (LISP) EPFL -SV IBI LISP NCEM | ||
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Summary: ://www.kuleuven.be/wieiswie/en/person/00013877 "The human knockout clinic: two illustrative inborn errors of fat and mitochondrial metabolism... Abstract The clinic of inborn errors of metabolism (IEM) still plays a role in the unraveling of normal... , metabolic syndrome and cancer. Knowledge of these diseases and ... |
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Source: Bey, Isabelle - Laboratoire de Modélisation de la Chimie Atmosphérique, Ecole Polytechnique Fédérale de Lausanne |
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Collection: Geosciences ; Environmental Sciences and Ecology |
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| 62 | 2006/07HISTORY HIGH-QUALITY RESEARCHER | ||
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Summary: theory of the syndrome, informed by both clinical studies and scientific investigations of cognitive... 2006/07HISTORY HIGH-QUALITY RESEARCHER FROM COMPONENT TO TREATMENT: NEGLECT SYNDROME FOLLOWING... RIGHT HEMISPHERE STROKE Background Masud Husain is Professor of Clinical Neurology at the Institute |
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Source: Rambaut, Andrew - School of Biological Sciences, University of Edinburgh |
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Collection: Biology and Medicine |
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| 63 | Proceedings of the 6th Workshop on Ontologies and Lexical Resources (Ontolex 2010), pages 5866, Beijing, August 2010 | ||
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Summary: from the text in our clinical reports to the signs and symptoms that constitute a syndrome, given... of ILI relevant concepts that occur in clinical re- ports in order to facilitate syndromic surveillance... in both the devel- oped and the developing world. Effec- tive syndromic ... |
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Source: Association for Computational Linguistics (ACL) Anthology |
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Collection: Computer Technologies and Information Sciences |
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| 64 | UCSF University of California San Francisco ORAL MEDICINE CLINICAL CENTER | ||
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Summary: Oral AIDS Center Sjögren's Syndrome Clinic 521 Parnassus Avenue, ROOM C-646, San Francisco, CA 94143... UCSF University of California San Francisco ORAL MEDICINE CLINICAL CENTER Oral Medicine Clinic... -0422 Phone: 415/476-2045 Fax: 415/514-2862 Directions to the Oral Medicine Clinical ... |
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Source: Derisi, Joseph - Department of Biochemistry and Biophysics, University of California at San Francisco |
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Collection: Biotechnology ; Biology and Medicine |
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| 65 | Clinical Features: Rett syndrome is a progressive neurodevelopmental disorder, primarily affecting females. Rett syndrome is | ||
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Summary: 1/11 Clinical Features: Rett syndrome is a progressive neurodevelopmental disorder, primarily... affecting females. Rett syndrome is characterized by acquired microcephaly, loss of purposeful hand... include scoliosis, epilepsy, poor growth, and irregular breathing. There is broad clinical variability |
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Source: Das, Soma - Department of Human Genetics, University of Chicago |
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Collection: Biology and Medicine |
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| 66 | Clinical Features: Rett syndrome is a progressive neurodevelopmental disorder, primarily affecting females. Rett syndrome is | ||
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Summary: 1/11 Clinical Features: Rett syndrome is a progressive neurodevelopmental disorder, primarily... affecting females. Rett syndrome is characterized by acquired microcephaly, loss of purposeful hand... include scoliosis, epilepsy, poor growth, and irregular breathing. There is broad clinical variability |
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Source: Gilad, Yoav - Department of Human Genetics, University of Chicago |
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Collection: Biology and Medicine |
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| 67 | The University of New South WalesClinic Enquiries: (02) 9385 3352 UNSW Medicine Lifestyle Clinic The Lifestyle Clinic is located at 38 Botany Street, | ||
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Summary: The University of New South WalesClinic Enquiries: (02) 9385 3352 UNSW Medicine Lifestyle Clinic Lo... CaTioN The Lifestyle Clinic is located at 38 Botany Street, Randwick (Corner of Botany and High Streets). Frequent bus... services from Central Bus Station and the eastern suburbs stop directly outside the ... |
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Source: Blennerhassett, Peter - School of Mathematics and Statistics, University of New South Wales |
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Collection: Mathematics ; Engineering |
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| 68 | Clinical Features: Rett syndrome [OMIM #312750] is a progressive neurodevelopmental disorder, primarily affecting females. | ||
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Summary: 4/09 Clinical Features: Rett syndrome [OMIM #312750] is a progressive neurodevelopmental disorder... , primarily affecting females. Classic Rett syndrome is characterized by acquired microcephaly, loss... . There are several variants of Rett syndrome including preserved speech variant, early-onset seizures, and ... |
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Source: Das, Soma - Department of Human Genetics, University of Chicago |
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Collection: Biology and Medicine |
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| 69 | CHARGE syndrome: Coloboma Heart defect | ||
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Summary: was given to this syndrome for its cardinal clinical features. Blake et al (1998) suggested the following... criteria, which are more widely accepted. Clinical diagnosis of CHARGE syndrome requires 4 major signs or 3... other features have been seen in patients with the clinical ... |
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Source: Ober, Carole - Committee on Genetics & Department of Human Genetics, University of Chicago |
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Collection: Biology and Medicine |
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| 70 | Last Updated 06/07/2011 1 Study Title and Description Age Diagnosis | ||
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Summary: Syndrome and Down Syndrome Baby Study This prospective, longitudinal study will examine low- and high... -level visual processing differences in infants with Fragile X Syndrome, Down Syndrome, and typical development... behavioral, medical and education-based treatments. 0 to 4 years Fragile X ... |
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|
Source: Nguyen, Danh - Department of Public Health Sciences, University of California, Davis |
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Collection: Biology and Medicine ; Mathematics |
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| 71 | Clinical Features: Oral-facial-digital syndrome, type 1 | ||
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Summary: 5/10 Clinical Features: Oral-facial-digital syndrome, type 1 Patients with oral... a completed Oral-Facial-Digital Syndrome, Type 1 Clinical Checklist and patient consent form with each sample... -facial-digital syndrome, type 1 (OFD1) [OMIM #311200] have oral (lobed tongue, cleft palate, ... |
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Source: Das, Soma - Department of Human Genetics, University of Chicago |
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Collection: Biology and Medicine |
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| 72 | Clinical Features: Oral-facial-digital syndrome, type 1 | ||
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Summary: 5/10 Clinical Features: Oral-facial-digital syndrome, type 1 Patients with oral... a completed Oral-Facial-Digital Syndrome, Type 1 Clinical Checklist and patient consent form with each sample... -facial-digital syndrome, type 1 (OFD1) [OMIM #311200] have oral (lobed tongue, cleft palate, ... |
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Source: Gilad, Yoav - Department of Human Genetics, University of Chicago |
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Collection: Biology and Medicine |
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| 73 | IP Pragmatics Limited, 1 Quality Court, Chancery Lane, London WC2A 1HR, UK www.ip-pragmatics.com | ||
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Summary: between patients with sepsis, with systemic inflammatory response syndrome (SIRS), or with neither... condition, days before clinical symptoms are seen. Technology: Utilises a panel of real time RT... -PCR biomarkers that can identify patients with sepsis days before clinical symptoms are seen. Mortality increases |
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Source: Centre for Environment, Fisheries and Aquaculture Science (Cefas) |
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Collection: Environmental Sciences and Ecology |
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| 74 | Does diagnosis of the metabolic syndrome detect further men at high risk of cardiovascular death beyond those | ||
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Summary: of the metabolic syndrome in clinical practice is thus justified in men, but the waist circumference provided... of fatal CVD over the 10-year follow-up, using the clinical definition of the metabolic syndrome given... , but this was not formally tested. In these two clinical trials, the ... |
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Source: Ecole Polytechnique, Centre de mathématiques |
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Collection: Mathematics |
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| 75 | Is the intersection syndrome is an occupational disease? Descatha Alexis 1 2 * | ||
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Summary: patient. It is important to remember that intersection syndrome diagnosis is a clinical diagnosis... Is the intersection syndrome is an occupational disease? Descatha Alexis 1 2 * , Leproust H l neé è... : Alexis Descatha |
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Source: Ecole Polytechnique, Centre de mathématiques |
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Collection: Mathematics |
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| 76 | Letter to the Editor. The sensitivity and specificity of ultrasound for the diagnosis of carpal tunnel syndrome. A meta-analysis | ||
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Summary: tunnel syndrome. A meta-analysis Alexis Descatha MD PhD 1,2,3 , Laure Huard MD 3 , Sarah Duval MD 3 1... of Ultrasound for the Diagnosis of Carpal Tunnel Syndrome" by Fowler, Gaughan and Ilyas 1 . It is true... ultrasound has garnered interest in the last decade for diagnosis of carpal tunnel syndrome considering its |
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Source: Ecole Polytechnique, Centre de mathématiques |
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Collection: Mathematics |
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| 77 | HISTORY / CLINICAL INFORMATION (REQUIRED) AREA TO BE EXAMINED / TYPE OF EXAMINATION | ||
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Summary: HISTORY / CLINICAL INFORMATION (REQUIRED) AREA TO BE EXAMINED / TYPE OF EXAMINATION DIAGNOSIS... OR CLINICAL SUSPICION (REQUIRED) Rule out diagnosis not acceptable O R T H O P A E D I C NAME: MEDICAL RECORD... shoulder c Calcaneal Spur c Carpal Tunnel Syndrome c Cellulitis & Abscess c Chondrocalcinosis c |
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Source: Jacob, Mathews - Departments of Biomedical Engineering & Electrical and Computer Engineering, University of Rochester |
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Collection: Biology and Medicine ; Engineering |
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| 78 | Clinical Features: Pitt-Hopkins syndrome (PHS) [OMIM #610954] is a severe congenital encephalopathy that occurs in | ||
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Summary: 7/10 Clinical Features: Pitt-Hopkins syndrome (PHS) [OMIM #610954] is a severe congenital... with Angelman, Mowat-Wilson and Rett syndromes. Patients with PHS are typically less ataxic than those... with Angelman syndrome. Epilepsy and sleep disturbances have been reported features of PHS, but are more ... |
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Source: Das, Soma - Department of Human Genetics, University of Chicago |
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Collection: Biology and Medicine |
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| 79 | BioMed Central Page 1 of 10 | ||
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Summary: of a syndromic surveillance system set up within the armed forces, compared to the traditional clinical... : It was shown that syndromic surveillance detected the dengue fever outbreak several weeks before clinical... public) Type of disease definition criteria Syndromic 1. ... |
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Source: Ecole Polytechnique, Centre de mathématiques |
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Collection: Mathematics |
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| 80 | VOLUME17,NUMBER1,2007nLINCOLNLABORATORYJOURNAL 101 Health Surveillance and | ||
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Summary: by clinical diagno- sis, but it still depends on a syndromic-surveillance alert occurring before the first... clinical case finding. Moreover, syndromic surveillance has a potentially important role in characterizing... to the first clinical diag- nosis. By that measure, ... |
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|
Source: Massachusetts Institute of Technology (MIT), Media Laboratory, Software Agents Group |
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Collection: Computer Technologies and Information Sciences |
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| 81 | Original article Impact of geometry and viewing angle | ||
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Summary: ://www.elsevier.com/locate/ejmg + MODEL #12;1. Introduction Syndrome diagnosis based on clinical examination of patients is a challenge... - teriorate as more syndromes are included e which is a prerequisite to moving forward to the clinical... demonstrated to be effective in a small number of ... |
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|
Source: Ruhr-Universität Bochum - Institut für Neuroinformatik (INI) |
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Collection: Computer Technologies and Information Sciences |
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| 82 | DRhoGEF2 encodes a member of the Dbl family of oncogenes and controls cell | ||
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Summary: (AarskogScott syndrome), a multi- systemic developmental disease affecting skeletal and urogenital systems... .L. Gorski. 1994. Isolation and characterization of the faciogeni- tal dysplasia (Aarskog-Scott syndrome |
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Source: Higgins, Darren - Department of Microbiology and Molecular Genetics, Harvard University |
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Collection: Biology and Medicine |
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| 83 | Taped or Not Taped Subject ID# D I A G N O S T I C I M P R E S S I O N DATE: ****____ Std. MAP Proc. or Special Proc.__________________ Enrolled in Study | ||
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Summary: , _______________________________________ DAT OR PRODROMAL SYNDROMES _______ Incipient dementia _______ DAT... of clinical assessment. (Mood disorder active within past year) REMOTE: Defined as episodes occurring greater... and thus has little potential to contribute to dementia at time of clinical assessment. Active Remote |
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Source: Washington University in St. Louis, Department of Psychology, Cognitive Control and Psychopathology Laboratory |
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Collection: Biology and Medicine |
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| 84 | Beth L. Goodlin-Jones, Ph.D. Goodlin-Jones, Beth L., Ph.D., Associate Professor of Clinical Psychiatry, Department of | ||
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Summary: for Sleep Problems in Children with Autism and Fragile X Syndrome. Journal of Clinical Sleep Medicine 5... Beth L. Goodlin-Jones, Ph.D. Goodlin-Jones, Beth L., Ph.D., Associate Professor of Clinical... Biography Dr. Goodlin-Jones, a clinical developmental psychologist, is an active member of the M |
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|
Source: Nguyen, Danh - Department of Public Health Sciences, University of California, Davis |
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Collection: Biology and Medicine ; Mathematics |
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| 85 | Clinical Features: Angelman syndrome (AS) [OMIM #105830] is characterized by four essential features, demonstrated by all those | ||
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Summary: 6/11 Clinical Features: Angelman syndrome (AS) [OMIM #105830] is characterized by four essential... or balance disorder, usually manifesting as ataxia, but may be clinically mild Behavioral uniqueness... or dysfunction of the typically active maternal allele at chromosome 15q11-q13, while the clinically ... |
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Source: Ober, Carole - Committee on Genetics & Department of Human Genetics, University of Chicago |
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Collection: Biology and Medicine |
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| 86 | Clinical Features: Angelman syndrome (AS) [OMIM #105830] is characterized by four essential features, demonstrated by all those | ||
|
Summary: 1/11 Clinical Features: Angelman syndrome (AS) [OMIM #105830] is characterized by four essential... or balance disorder, usually manifesting as ataxia, but may be clinically mild Behavioral uniqueness... or dysfunction of the typically active maternal allele at chromosome 15q11-q13, while the clinically ... |
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Source: Das, Soma - Department of Human Genetics, University of Chicago |
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Collection: Biology and Medicine |
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| 87 | Clinical Features: Angelman syndrome (AS) [OMIM #105830] is characterized by four essential features, demonstrated by all those | ||
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Summary: 1/11 Clinical Features: Angelman syndrome (AS) [OMIM #105830] is characterized by four essential... or balance disorder, usually manifesting as ataxia, but may be clinically mild · Behavioral uniqueness... or dysfunction of the typically active maternal allele at chromosome 15q11-q13, while the clinically ... |
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|
Source: Gilad, Yoav - Department of Human Genetics, University of Chicago |
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Collection: Biology and Medicine |
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| 88 | Clinical Features: Angelman syndrome (AS) [OMIM #105830] is characterized by four essential features, demonstrated by all those | ||
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Summary: 3/10 Clinical Features: Angelman syndrome (AS) [OMIM #105830] is characterized by four essential... or balance disorder, usually manifesting as ataxia, but may be clinically mild Behavioral uniqueness... or dysfunction of the typically active maternal allele at chromosome 15q11-q13, while the clinically ... |
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|
Source: Das, Soma - Department of Human Genetics, University of Chicago |
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Collection: Biology and Medicine |
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| 89 | Wellcome tRust 2007/0834 Wellcome tRust gRant | ||
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Summary: in being able to provide parents with a diagnosis. As well as being able to guide clinical care... by Nigel Carter of the Sanger Institute and Helen Firth, a clinical genetics consultant at Addenbrooke... 's Hospital in Cambridge. Clinical geneticists from anywhere in the world can register and, having obtained |
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|
Source: Rambaut, Andrew - School of Biological Sciences, University of Edinburgh |
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|
Collection: Biology and Medicine |
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| 90 | Clinical Features: Rett syndrome is a progressive neurodevelopmental disorder, primarily affecting females. Rett syndrome is | ||
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Summary: 11/09 Clinical Features: Rett syndrome is a progressive neurodevelopmental disorder, primarily... affecting females. Rett syndrome is characterized by acquired microcephaly, loss of purposeful hand... include scoliosis, epilepsy, poor growth, and irregular breathing [1]. There is broad clinical variability |
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|
Source: Das, Soma - Department of Human Genetics, University of Chicago |
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Collection: Biology and Medicine |
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| 91 | Clinical Features: Rett syndrome is a progressive neurodevelopmental disorder, primarily affecting females. Rett syndrome is | ||
|
Summary: 11/09 Clinical Features: Rett syndrome is a progressive neurodevelopmental disorder, primarily... affecting females. Rett syndrome is characterized by acquired microcephaly, loss of purposeful hand... include scoliosis, epilepsy, poor growth, and irregular breathing [1]. There is broad clinical variability |
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|
Source: Gilad, Yoav - Department of Human Genetics, University of Chicago |
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Collection: Biology and Medicine |
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| 92 | Clinical Features: Rett syndrome is a progressive neurodevelopmental disorder, primarily affecting females. Rett syndrome is | ||
|
Summary: 6/11 Clinical Features: Rett syndrome is a progressive neurodevelopmental disorder, primarily... affecting females. Rett syndrome is characterized by acquired microcephaly, loss of purposeful hand... include scoliosis, epilepsy, poor growth, and irregular breathing [1]. There is broad clinical variability |
|||
|
Source: Gilad, Yoav - Department of Human Genetics, University of Chicago; Ober, Carole - Committee on Genetics & Department of Human Genetics, University of Chicago |
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Collection: Biology and Medicine |
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| 93 | Evolutionary Applications (in press, December 2008) Genomic Sister-Disorders of Neurodevelopment | ||
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Summary: phenotype of the 22q11.2 deletion syndrome: selective deficit in visual-spatial memory. Journal of Clinical... neurogenetic sister-disorders, including Williams syndrome, Velocardiofacial syndrome, and Smith... -Magenis syndrome, as well as the X-chromosomal conditions Klinefelter and ... |
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|
Source: Crespi, Bernard J. - Department of Biological Sciences, Simon Fraser University |
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Collection: Environmental Sciences and Ecology |
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| 94 | Clinical Features: Prader-Willi syndrome (PWS) [OMIM #176270] is a genetic disorder which causes hypotonia and poor feeding in | ||
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Summary: 3/10 Clinical Features: Prader-Willi syndrome (PWS) [OMIM #176270] is a genetic disorder which... . Chen C et al. Prader-Willi Syndrome; An update and Review for the Primary Pediatrician 2007 Clinical... to 25% [2]. Additional Resources: Prader-Willi Syndrome Association 5700 Midnight Pass ... |
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Source: Das, Soma - Department of Human Genetics, University of Chicago |
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Collection: Biology and Medicine |
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| 95 | Clinical Features: Mowat-Wilson syndrome (MWS) [OMIM # 235730] is characterized by distinctive facial features, which in young | ||
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Summary: 8/10 Clinical Features: Mowat-Wilson syndrome (MWS) [OMIM # 235730] is characterized by distinctive... Clinical Advisor ABMG Certified Clinical Geneticists References: 1. Adam, MP, et al. Mowat-Wilson syndrome... 80% of individuals with a clinical diagnosis of MWS ... |
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Source: Das, Soma - Department of Human Genetics, University of Chicago |
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Collection: Biology and Medicine |
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| 96 | Title: Determinants of Quality of Life in Older Adults with Diabetes: The Diabetes & Aging Study (3483/3500 CHARACTERS) | ||
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Summary: of the first clinical guidelines for this population by the California Healthcare Foundation and American... syndromes. However, the extent to which geriatric syndromes, relative to traditional complications... to assess QOL. To estimate the separate effects of prevalent geriatric syndromes [chronic pain, ... |
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|
Source: Mateo, Jill M. - Institute for Mind and Biology, University of Chicago |
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Collection: Biology and Medicine |
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| 97 | ORAL MEDICINE CLINICAL CENTER Oral Medicine Oral AIDS Center Sjgren's Syndrome Clinic | ||
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Summary: ORAL MEDICINE CLINICAL CENTER Oral Medicine Oral AIDS Center Sjögren's Syndrome Clinic... University of California San Francisco 521 Parnassus (Clinical Sciences Building) Room C-646 San Francisco... , CA 94143-0422 Clinic Phone: (415) 476-2045 DIRECTIONS TO THE ... |
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|
Source: Derisi, Joseph - Department of Biochemistry and Biophysics, University of California at San Francisco |
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Collection: Biotechnology ; Biology and Medicine |
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| 98 | U.S. DEPARTMENT OF HEALTH AND HUMAN SERVICES | ||
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Summary: Vasculitis Syndromes of the Central and Peripheral Nervous Systems #12;#12;1 Vasculitis Syndromes... , including the central (CNS) and peripheral (PNS) nervous systems. Vasculitic disorders, or syndromes... , or capillaries. #12;What are the symptoms? A vasculitis syndrome may begin suddenly or develop over ... |
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Source: National Institutes of Health, Laboratory of Functional and Molecular Imaging |
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|
Collection: Biotechnology ; Biology and Medicine |
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| 99 | ORIGINAL ARTICLE Turner syndrome and the evolution of human sexual | ||
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Summary: important implications for both clinical treatment of individuals with this syndrome, and hypotheses... of karyotypepheno- type correlations in Turner syndrome is important both for clinical treatment... . Journal of Clinical Endocrinology and Metabolism 88:622626. Bondy, C. A. 2006. ... |
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|
Source: Crespi, Bernard J. - Department of Biological Sciences, Simon Fraser University |
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Collection: Environmental Sciences and Ecology |
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| 100 | Harvard Medical School M.D.-Ph.D. Program, Brigham and Women's Hospital and the Leder Program in Human Biology and Translational Medicine | ||
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Summary: -based therapy for Alport Syndrome Clinical Case Presentation by Dr. Benjamin Olenchock Research Presentation... Presenters December 10, 2008 5:15pm A 39 year old man with fever, nausea, and a cough Clinical Case... on "pathophysiology of Alport syndrome" by Ms. Valerie LeBleu February 18, 2009 5:15pm ... |
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|
Source: Knipe, David M. - Department of Microbiology and Molecular Genetics, Harvard University |
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|
Collection: Biology and Medicine |
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