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1		American Journal of Medical Genetics 138A:349354 (2005) Clinical Report
		Summary: ] syndromes. In addition, hyperkeratosis pilaris/ulerythema ophryogenes has been associated with 18p- syndrome... with CFC and 18p- syndromes. We propose that hyperkeratosis pilaris/ulerythema ophryo- genes has... associated with an ...
		Source: Klein, Ophir - Departments of Orofacial Sciences & Pediatrics, University of California at San Francisco
		Collection: Biology and Medicine

2		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
		Summary: 7/11 This oligonucleotide microarray-based assay allows for the detection of exonic deletions... be analyzed for deletions and duplications and results may be confirmed by qPCR, MLPA or alternative... methodologies. This assay will allow deletion/duplication analysis for disorders known to be caused by ...
		Source: Stephens, Matthew - Departments of Statistics & Human Genetics, University of Chicago
		Collection: Biology and Medicine ; Mathematics

3		Information for Patients and Families What is Sotos syndrome?
		Summary: 6/11 Information for Patients and Families What is Sotos syndrome? Sotos syndrome is a rare genetic... condition. As with other syndromes, individuals with Sotos syndrome look alike. Common findings include... with Sotos syndrome. Some may only need extra help in school while others may ...
		Source: Ober, Carole - Committee on Genetics & Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

4		Information for Patients and Families What is Sotos syndrome?
		Summary: 5/10 Information for Patients and Families What is Sotos syndrome? Sotos syndrome is a rare genetic... condition. As with other syndromes, individuals with Sotos syndrome look alike. Common findings include... with Sotos syndrome. Some may only need extra help in school while others may ...
		Source: Das, Soma - Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

5		Information for Patients and Families What is Sotos syndrome?
		Summary: 5/10 Information for Patients and Families What is Sotos syndrome? Sotos syndrome is a rare genetic... condition. As with other syndromes, individuals with Sotos syndrome look alike. Common findings include... with Sotos syndrome. Some may only need extra help in school while others may ...
		Source: Das, Soma - Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

6		This Provisional PDF corresponds to the article as it appeared upon acceptance. Fully formatted PDF and full text (HTML) versions will be made available soon.
		Summary: -Rokitansky-Kuster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci. Orphanet Journal of Rare... syndrome are also within the clinical spectrum of the 22q11.2 deletion syndrome, also referred to as Di... George syndrome appears to be ...
		Source: Ecole Polytechnique, Centre de mathématiques
		Collection: Mathematics

7		COMMON TYPES OF CHROMOSOME ABNORMALITIES Dr. Fern Tsien, Dept. of Genetics, LSUHSC, NO, LA
		Summary: syndrome or Trisomy 21, is the most common trisomy, occurring in 1 per 800 births (about 3,400) a year... Syndrome Society, there are more than 400,000 individuals with Down syndrome in the United States. Patients... with Down syndrome have three copies of their 21 chromosomes instead of the normal two. The ...
		Source: Louisiana State University Health Sciences Center in New Orleans, Department of Biochemistry and Molecular Biology
		Collection: Biology and Medicine

8		Page 1 of 3 8/10 THE UNIVERSITY OF CHICAGO GENETIC SERVICES LABORATORIES
		Summary: deletion analysis Atypical Rett/Angelman syndrome panel (MECP2 and TCF4 sequencing and deletion... ) sequencing Cornelia de Lange syndrome testing CdLS Series (NIPBL sequencing, NIPBL deletion... /duplication analysis Mowat-Wilson syndrome testing ZEB2 mutation ...
		Source: Das, Soma - Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

9		Genes in Eyecare geneseyedoc 3 W.M. Lyle and T.D. Williams 15 Mar 04
		Summary: . glucocorticoid deficiency. (AR) MC2R at 18p11.2 Show adrenal unresponsiveness. cortisol resistance. (AD) GRLat 5q... . Roy's book Ocular Syndromes and Systemic Diseases published by Lippincott Williams & Wilkins in 2002... in about 1/150. Gene symbols are written in BOLD ITALICS. The indicated gene may be mutated, ...
		Source: Le Roy, Robert J. - Department of Chemistry, University of Waterloo
		Collection: Chemistry

10		Information for Patients and Families What is Angelman syndrome?
		Summary: causes Angelman syndrome? There are several causes of Angelman syndrome. Deletion: About 70... 6/11 Information for Patients and Families What is Angelman syndrome? Angelman syndrome is a rare... . Individuals with Angelman syndrome can also have frequent laughter and ...
		Source: Ober, Carole - Committee on Genetics & Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

11		Information for Patients and Families What is Angelman syndrome?
		Summary: causes Angelman syndrome? There are several causes of Angelman syndrome. Deletion: About 70... 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 ...
		Source: Das, Soma - Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

12		Etiologicalheterogeneityinautismspectrumdisorders:morethan100 geneticandgenomicdisordersandstillcounting
		Summary: .Finally,thedataprovidestrongsupportforhighresolutionDNA microarraysaswellaswholeexomeandwholegenomesequencingascriticalapproachesfor identifyingthegeneticcausesofASDs. Keywords:autism;intellectualdisability;mutation;copynumbervariation;deletion... %of cases;themostfrequentabnormalitiesare15q11q13duplications,and2q37,22q11.2and22q13.3 deletions... ...
		Source: Ecole Polytechnique, Centre de mathématiques
		Collection: Mathematics

13		Clinical Features: Sotos syndrome is characterized by characteristic facial features, developmental delay, and increased height and
		Summary: % of patients with a clinical diagnosis of Sotos syndrome [2,3]. Recently, intragenic deletions of one or more... syndrome [4]. These intragenic deletions/duplications will not be detected by FISH or CGH analysis... : 132-143. 4. Douglas et al. "Partial NSD1 deletions cause 5% of Sotos ...
		Source: Ober, Carole - Committee on Genetics & Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

14		Page 1 of 3 2/11 THE UNIVERSITY OF CHICAGO GENETIC SERVICES LABORATORIES
		Summary: /dup) SLC2A1 sequencing SLC2A1 deletion/duplication analysis Cornelia de Lange syndrome testing Cd... deletion/duplication analysis Mowat-Wilson syndrome testing ZEB2 mutation analysis (sequencing and del... /dup) ZEB2 sequence analysis ZEB2 deletion/duplication analysis Pitt-Hopkins ...
		Source: Gilad, Yoav - Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

15		Page 1 of 3 5/11 THE UNIVERSITY OF CHICAGO GENETIC SERVICES LABORATORIES
		Summary: /dup) SLC2A1 sequencing SLC2A1 deletion/duplication analysis Cornelia de Lange syndrome testing Cd... deletion/duplication analysis Mowat-Wilson syndrome testing ZEB2 mutation analysis (sequencing and del... /dup) ZEB2 sequence analysis ZEB2 deletion/duplication analysis Pitt-Hopkins ...
		Source: Das, Soma - Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

16		Clinical Features: Sotos syndrome is characterized by characteristic facial features, developmental delay, and increased height and
		Summary: % of patients with a clinical diagnosis of Sotos syndrome [2,3]. Recently, intragenic deletions of one or more... syndrome [4]. These intragenic deletions/duplications will not be detected by FISH or CGH analysis... : 132-143. 4. Douglas et al. "Partial NSD1 deletions cause 5% of Sotos ...
		Source: Das, Soma - Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

17		Clinical Features: Sotos syndrome is characterized by characteristic facial features, developmental delay, and increased height and
		Summary: % of patients with a clinical diagnosis of Sotos syndrome [2,3]. Recently, intragenic deletions of one or more... syndrome [4]. These intragenic deletions/duplications will not be detected by FISH or CGH analysis... : 132-143. 4. Douglas et al. "Partial NSD1 deletions cause 5% of Sotos ...
		Source: Gilad, Yoav - Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

18		CHARGE syndrome: Coloboma Heart defect
		Summary: or deletions in the CHD7 gene account for approximately 65% of patients with CHARGE syndrome. Up to 10... 2/08 CHARGE syndrome: Coloboma Heart defect Atresia of the choanae Retardation of growth... was given to this syndrome for its cardinal clinical features. Blake et al (1998) suggested the following
		Source: Das, Soma - Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

19		CHARGE syndrome: Coloboma Heart defect
		Summary: or deletions in the CHD7 gene account for approximately 65% of patients with CHARGE syndrome. Up to 10... 2/08 CHARGE syndrome: Coloboma Heart defect Atresia of the choanae Retardation of growth... was given to this syndrome for its cardinal clinical features. Blake et al (1998) suggested the following
		Source: Gilad, Yoav - Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

20		Clinical Features: Rett syndrome is a progressive neurodevelopmental disorder, primarily affecting females. Rett syndrome is
		Summary: syndrome [1]. Partial deletions of MeCP2 are found in approximately 16% of girls with classic or atypical... /Atypical Rett syndrome panel (MECP2, CDKL5, MEF2C and FOXG1 sequencing and deletion/duplication analysis) Sample... 6/11 Clinical Features: Rett syndrome is a progressive ...
		Source: Ober, Carole - Committee on Genetics & Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

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21		Clinical Features: Rett syndrome is a progressive neurodevelopmental disorder, primarily affecting females. Rett syndrome is
		Summary: % of girls with classic Rett syndrome and 20% of girls with a variant diagnosis. MeCP2 deletions are found... 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
		Source: Gilad, Yoav - Department of Human Genetics, University of Chicago; Ober, Carole - Committee on Genetics & Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

22		Clinical Features: Rett syndrome is a progressive neurodevelopmental disorder, primarily affecting females. Rett syndrome is
		Summary: % of girls with classic Rett syndrome and 20% of girls with a variant diagnosis. MeCP2 deletions are found... 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
		Source: Das, Soma - Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

23		Clinical Features: Angelman syndrome (AS) [OMIM #105830] is characterized by four essential features, demonstrated by all those
		Summary: Syndrome Tier 2 Panel (UBE3A, SLC9A6, MECP2 and TCF4 sequencing and deletion/duplication analysis... -MLPA for AS Abnormal methylation Deletion of 15q11-13 Abnormal methylation Imprinting Center deletion Angelman syndrome... 6/11 Clinical Features: Angelman syndrome ...
		Source: Ober, Carole - Committee on Genetics & Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

24		Clinical Features: Rett syndrome [OMIM #312750] is a progressive neurodevelopmental disorder, primarily affecting females.
		Summary: of Rett syndrome". (2008) Amer J Hum Genet 83: 1-5. 3. Pape FT, et al. "A 3 Mb deletion in 14q12 causes... 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
		Source: Das, Soma - Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

25		Clinical Features: Pitt-Hopkins syndrome (PHS) [OMIM #610954] is a severe congenital encephalopathy that occurs in
		Summary: for Angelman, Mowat-Wilson or Rett syndrome [4]. Giurgea et al [2008] detected deletions of the TCF4 gene in 4... Sequencing for Pitt-Hopkins Syndrome #12;6/11 TCF4 deletion/duplication analysis Sample specifications: 3 to... . Giurgea I, et al. "TCF4 deletions in Pitt-Hopkins ...
		Source: Ober, Carole - Committee on Genetics & Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

26		Clinical Features: Rett syndrome is a progressive neurodevelopmental disorder, primarily affecting females. Rett syndrome is
		Summary: % of girls with classic Rett syndrome and 20% of girls with a variant diagnosis. MeCP2 deletions are found... 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
		Source: Das, Soma - Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

27		Clinical Features: Rett syndrome is a progressive neurodevelopmental disorder, primarily affecting females. Rett syndrome is
		Summary: % of girls with classic Rett syndrome and 20% of girls with a variant diagnosis. MeCP2 deletions are found... 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
		Source: Gilad, Yoav - Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

28		TEST DISORDER TAT COST 83891, 83892, 83898 x 3, 83912 4 weeks $525
		Summary: and deletion/duplication) Angelman syndrome ASPM deletion/duplication by array-CGH* Angelman syndrome... Glucose transporter t ype 1 deficiency syndrome testing Crigler-Najjar syndrome Deletion... and deletion/duplication) ...
		Source: Das, Soma - Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

29		Clinical Features: Angelman syndrome (AS) [OMIM #105830] is characterized by four essential features, demonstrated by all those
		Summary: Syndrome Tier 2 Panel (UBE3A and SLC9A6 sequencing, MECP2 and TCF4 sequencing and deletion... deletion Angelman syndrome Tier 2 Panel (UBE3A, SLC9A6, TCF4, MECP2) MS-MLPA abnormal for AS Abnormal... 1/11 Clinical Features: Angelman syndrome (AS) [OMIM #105830] is characterized by four ...
		Source: Das, Soma - Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

30		Clinical Features: Angelman syndrome (AS) [OMIM #105830] is characterized by four essential features, demonstrated by all those
		Summary: Syndrome Tier 2 Panel (UBE3A and SLC9A6 sequencing, MECP2 and TCF4 sequencing and deletion... deletion Angelman syndrome Tier 2 Panel (UBE3A, SLC9A6, TCF4, MECP2) MS-MLPA abnormal for AS Abnormal... 1/11 Clinical Features: Angelman syndrome (AS) [OMIM #105830] is characterized by four ...
		Source: Gilad, Yoav - Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

31		and neurobehavioral phenotype.4-7 Studies have documented language im-
		Summary: live births.2 The major physical Language skills in children with velocardiofacial syndrome (deletion... significant after adjusting for IQ differ- ences (F = 2.02, df = 1,18, P = .17). The repeated-measures ANOVA... . Parental origin of the deletion 22q11.2 and brain devel- opment in ...
		Source: Stanford University - Center for Interdisciplinary Brain Sciences Research
		Collection: Biology and Medicine

32		Clinical Features: Rett syndrome is a progressive neurodevelopmental disorder, primarily affecting females. Rett syndrome is
		Summary: syndrome [1]. Partial deletions of MeCP2 are found in approximately 16% of girls with classic or atypical... on separate tests). Rett/Atypical Rett syndrome panel (MECP2 and CDKL5 sequencing and deletion... 1/11 Clinical Features: Rett syndrome is a progressive neurodevelopmental ...
		Source: Das, Soma - Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

33		Clinical Features: Rett syndrome is a progressive neurodevelopmental disorder, primarily affecting females. Rett syndrome is
		Summary: syndrome [1]. · Partial deletions of MeCP2 are found in approximately 16% of girls with classic or atypical... on separate tests). Rett/Atypical Rett syndrome panel (MECP2 and CDKL5 sequencing and deletion... 1/11 Clinical Features: Rett syndrome is a progressive neurodevelopmental ...
		Source: Gilad, Yoav - Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

34		Clinical Features: Goldberg-Shprintzen megacolon syndrome (GOSHS, OMIM #609460) is a multiple malformation disorder
		Summary: with 22q11 deletion syndrome. Am. J. Med. Genet. 2005. 138A:307-313. Committed to CUSTOMIZED DIAGNOSTICS... 12/11 Clinical Features: Goldberg-Shprintzen megacolon syndrome (GOSHS, OMIM #609460) is a multiple... and prominent nose [4]. Differential Diagnosis: Mowat-Wilson syndrome (OMIM # 235730), has ...
		Source: Das, Soma - Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

35		Clinical Features: Patients with CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects
		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... , and over 20 mutations have been identified. Intragenic deletions of one or more exons of the NSDHL gene
		Source: Das, Soma - Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

36		Clinical Features: Patients with CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects
		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... , and over 20 mutations have been identified. Intragenic deletions of one or more exons of the NSDHL gene
		Source: Gilad, Yoav - Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

37		Clinical Features: Pitt-Hopkins syndrome (PHS) [OMIM #610954] is a severe congenital encephalopathy that occurs in
		Summary: for Angelman, Mowat-Wilson or Rett syndrome [4]. Giurgea et al [2008] detected deletions of the TCF4 gene in 4... mutations". (2009) Genet Med 11(11):797-805. 2. Giurgea I, et al. "TCF4 deletions in Pitt-Hopkins syndrome... 7/10 Clinical Features: Pitt-Hopkins syndrome (PHS) [OMIM ...
		Source: Das, Soma - Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

38		Clinical Features: Pitt-Hopkins syndrome (PHS) [OMIM #610954] is a severe congenital encephalopathy that occurs in
		Summary: for Angelman, Mowat-Wilson or Rett syndrome [4]. Giurgea et al [2008] detected deletions of the TCF4 gene in 4... mutations". (2009) Genet Med 11(11):797-805. 2. Giurgea I, et al. "TCF4 deletions in Pitt-Hopkins syndrome... 7/10 Clinical Features: Pitt-Hopkins syndrome (PHS) [OMIM ...
		Source: Gilad, Yoav - Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

39		Clinical Features: Pitt-Hopkins syndrome (PHS) [OMIM #610954] is a severe congenital encephalopathy that occurs in
		Summary: for Angelman, Mowat-Wilson or Rett syndrome [4]. Giurgea et al [2008] detected deletions of the TCF4 gene in 4... mutations (2009) Genet Med 11(11):797-805. 2. Giurgea I, et al. TCF4 deletions in Pitt-Hopkins syndrome... 7/10 Clinical Features: Pitt-Hopkins syndrome (PHS) [OMIM #610954] ...
		Source: Das, Soma - Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

40		Linking Cognitive Neuroscience and Molecular Genetics: New Perspectives from Williams Syndrome Ursula Bellugi and Marie St. George (Eds.)
		Summary: & Williams syndrome (WMS), a genetic condition resulting from a contiguous deletion on the long arm... ). Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: Evaluation of 235... wnt receptor gene binds wingless protein and is in the Williams syndrome ...
		Source: Stanford University - Center for Interdisciplinary Brain Sciences Research
		Collection: Biology and Medicine

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41		TEST DISORDER TAT COST 83891, 83892, 83898 x 3, 83912 4 weeks $525
		Summary: Lissencephaly panel (LIS & DCX sequencing and deletion/duplication, TUBA1A sequencing) Bernard-Soulier syndrome... , CENPJ, MCPH1 and STIL sequencing and deletion/duplication and CEP152 sequencing)** Angelman Syndrome... Tier 2 Panel (MECP2,TCF4, SLC9A6 and UBE3A sequencing and ...
		Source: Stephens, Matthew - Departments of Statistics & Human Genetics, University of Chicago
		Collection: Biology and Medicine ; Mathematics

42		Am J Psychiatry 157:3, March 2000 409 Children and Adolescents With Velocardiofacial Syndrome
		Summary: births (2). In most patients, a de novo deletion at chromosome 22q11.2 is responsible for the syndrome (3... syndrome (determined by means of the fluo- rescent in situ hybridization technique to have a deletion... . Karayiorgou et al. (42) even suggested that the velocardiofacial syndrome ...
		Source: Stanford University - Center for Interdisciplinary Brain Sciences Research
		Collection: Biology and Medicine

43		Last Updated 06/07/2011 1 Study Title and Description Age Diagnosis
		Summary: , under 44 lbs. Study ID. 62: Executive Control of Attention in Chromosome 22q11.2 Deletion Syndrome Many... individuals with chromosome 22q11.2 deletion syndrome (VCFS/DiGeorge) score lower on tests of math and similar... Reactivity and Coping in Children with Chromosome 22q11.2 Deletion ...
		Source: Nguyen, Danh - Department of Public Health Sciences, University of California, Davis
		Collection: Biology and Medicine ; Mathematics

44		TEST DISORDER TAT COST 83891, 83892x2, 83900, 83912 4 weeks $450
		Summary: Lissencephaly panel (LIS1, TUBA1A, & DCX sequencing and deletion/duplication analysis) Angelman syndrome... mutation analysis (sequencing and del/dup testing) Rett/atypical Rett syndrome testing MECP2 deletion... - 4 weeks $540 Imprinting center deletion analysis 83891, 83892x2, ...
		Source: Gilad, Yoav - Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

45		TEST DISORDER TAT COST 83891, 83892x2, 83900, 83912 4 weeks $450
		Summary: sequencing) Atypical Rett/Angelman syndrome panel (MECP2 and TCF4 sequence and deletion/duplication analysis... - 4 weeks $540 Imprinting center deletion analysis 83891, 83892x2, 83900, 83912 4 weeks $450 UBE3A... sequencing Angelman syndrome 83891, 83898 x 4, 83904 x 9, 83912 4 - 6 weeks $2,025 SLC9A6 ...
		Source: Das, Soma - Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

46		CHARGE syndrome: Coloboma Heart defect
		Summary: or deletions in the CHD7 gene account for approximately 65% of patients with CHARGE syndrome. Up to 10... 6/11 CHARGE syndrome: Coloboma Heart defect Atresia of the choanae Retardation of growth... was given to this syndrome for its cardinal clinical features. Blake et al (1998) suggested the following
		Source: Ober, Carole - Committee on Genetics & Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

47		Elisabeth May Dykens 3724 Princeton Ave,
		Summary: with Prader-Willi syndrome due to Type I paternal deletions. Under review. Invited Presentations 2007 Dykens... Scientific Advisory Board, Prader-Willi Syndrome Association (USA) Clinical Advisory Board, Prader... -Willi Syndrome Association (USA) CDC Steering Committee for Down Syndrome ...
		Source: Palmeri, Thomas - Department of Psychology, Vanderbilt University
		Collection: Biology and Medicine

48		Overview --Videos of presentations from 2005 present http://www.ucdmc.ucdavis.edu/mindinstitute/videos/video_index.html
		Summary: Syndrome Chromsome 22q11.2 Deletion Syndrome: An Introduction to the Medical Issues Presenter: Kathy... of Atypical Brain Development in Autism Presenter: Kevin A. Pelphrey, Ph.D. Chromosome 22q11.2 Deletion... . Jill James, Ph.D./University of Arkansas for Medical Sciences Fragile X ...
		Source: Nguyen, Danh - Department of Public Health Sciences, University of California, Davis
		Collection: Biology and Medicine ; Mathematics

49		TEST DISORDER TAT COST 83891, 83892x2, 83900, 83912 4 weeks $450
		Summary: - 4 weeks $540 Imprinting center deletion analysis 83891, 83892x2, 83900, 83912 4 weeks $450 UBE3A... sequencing Angelman syndrome 83891, 83898 x 4, 83904 x 9, 83912 4 - 6 weeks $2,025 SLC9A6 sequencing X... -linked Angelman-like syndrome 83891, 83898x4, 83904x7, 83912 4 - 6 weeks $1,675 83891, 83904 x 20, 83900, 83901 x
		Source: Das, Soma - Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

50		Clinical Features: Rett syndrome [OMIM #312750] is a progressive neurodevelopmental disorder, primarily affecting females.
		Summary: of Rett syndrome". (2008) Amer J Hum Genet 83: 1-5. 3. Pape FT, et al. "A 3 Mb deletion in 14q12 causes... 8/11 Clinical Features: Rett syndrome [OMIM #312750] is a progressive neurodevelopmental disorder... , primarily affecting females. Classic Rett syndrome is characterized by acquired microcephaly, loss
		Source: Ober, Carole - Committee on Genetics & Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

51		Clinical Features: Infantile spasms involve momentary flexion of the neck, trunk, or extremities, onsetting within the first year of life
		Summary: syndrome and approximately 20% of females with atypical Rett syndrome [3]. · Partial deletions of MeCP2... Panel #12;11/09 Infantile spasms/atypical Rett syndrome panel (MeCP2 sequencing and deletion analysis... develop other seizures and have severe developmental delays. West ...
		Source: Das, Soma - Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

52		Evolutionary Applications (in press, December 2008) Genomic Sister-Disorders of Neurodevelopment
		Summary: the names of specific known syndromes, and the terms `deletion' and `duplication' in conjunction... ). Given that over 30 genes are commonly deleted in this syndrome, the physical and psychiatric phenotypes... and Williams-syndrome region duplications Williams ...
		Source: Crespi, Bernard J. - Department of Biological Sciences, Simon Fraser University
		Collection: Environmental Sciences and Ecology

53		The Scientist
		Summary: Williams syndrome to a de novo deletion of ELN on Chromosome 7. They discovered that the responsible... deletions, smaller than the typical 2MB standard, exist, and the varying degrees of Williams syndrome... The Scientist :: Music, the Brain, and Williams Syndrome, Nov. 26... http
		Source: Levitin, Daniel - Department of Psychology, McGill University
		Collection: Biology and Medicine

54		Clinical Features: Angelman syndrome (AS) [OMIM #105830] is characterized by four essential features, demonstrated by all those
		Summary: 3/10 Clinical Features: Angelman syndrome (AS) [OMIM #105830] is characterized by four essential... Prader-Willi syndrome (PWS) is the result of dysfunction or absence of the paternal allele. The 15q11-q13... majority of AS [3]. To date, AS is known to be caused by four different genetic mechanisms [3]: Deletions
		Source: Das, Soma - Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

55		Last Updated 05/20/2011 1 Study Title and Description Age Diagnosis
		Summary: : Executive Control of Attention in Chromosome 22q11.2 Deletion Syndrome Many individuals with chromosome 22q... 11.2 deletion syndrome (VCFS/DiGeorge) score lower on tests of math and similar thinking abilities... : Hormonal Indices of Stress Reactivity and Coping in Children with Chromosome 22q11.2 ...
		Source: Nguyen, Danh - Department of Public Health Sciences, University of California, Davis
		Collection: Biology and Medicine ; Mathematics

56		Clinical Features: Prader-Willi syndrome (PWS) [OMIM #176270] is a genetic disorder which causes hypotonia and poor feeding in
		Summary: 6/11 Clinical Features: Prader-Willi syndrome (PWS) [OMIM #176270] is a genetic disorder which... of several mechanisms including a de novo paternal deletion in this region, maternal uniparental disomy (UPD... deletion of 15q11-q13 on the paternally contributed chromosome, corresponding to a less than 1% recurrence
		Source: Ober, Carole - Committee on Genetics & Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

57		Clinical Features: Oral-facial-digital syndrome, type 1
		Summary: -Robinet C, et al. "Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after... 5/10 Clinical Features: Oral-facial-digital syndrome, type 1 Patients with oral... -facial-digital syndrome, type 1 (OFD1) [OMIM #311200] have oral (lobed tongue, cleft palate, hamartomas or lipomas
		Source: Das, Soma - Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

58		Clinical Features: Oral-facial-digital syndrome, type 1
		Summary: -Robinet C, et al. "Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after... 5/10 Clinical Features: Oral-facial-digital syndrome, type 1 Patients with oral... -facial-digital syndrome, type 1 (OFD1) [OMIM #311200] have oral (lobed tongue, cleft palate, hamartomas or lipomas
		Source: Gilad, Yoav - Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

59		Clinical Features: Oral-facial-digital syndrome, type 1
		Summary: -Robinet C, et al. Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after... 5/10 Clinical Features: Oral-facial-digital syndrome, type 1 Patients with oral... -facial-digital syndrome, type 1 (OFD1) [OMIM #311200] have oral (lobed tongue, cleft palate, hamartomas or lipomas
		Source: Das, Soma - Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

60		Clinical Features: Oral-facial-digital syndrome, type 1
		Summary: -Robinet C, et al. "Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after... 6/11 Clinical Features: Oral-facial-digital syndrome, type 1 Patients with oral... -facial-digital syndrome, type 1 (OFD1) [OMIM #311200] have oral (lobed tongue, cleft palate, hamartomas or lipomas
		Source: Ober, Carole - Committee on Genetics & Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

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61		Original article 93 Case report: Y;6 translocation with deletion of 6p
		Summary: deletion syndromes consisting of varying combinations of malformations have been proposed (Davies et al... both the interstitial and terminal 6p deletion syndromes, including growth and developmental delay... in the distal chromosome regions, from 6p22 to the telomere. Two distinct 6p ...
		Source: Klein, Ophir - Departments of Orofacial Sciences & Pediatrics, University of California at San Francisco
		Collection: Biology and Medicine

62		Clinical Features: Prader-Willi syndrome (PWS) [OMIM #176270] is a genetic disorder which causes hypotonia and poor feeding in
		Summary: 3/10 Clinical Features: Prader-Willi syndrome (PWS) [OMIM #176270] is a genetic disorder which... of several mechanisms including a de novo paternal deletion in this region, maternal uniparental disomy (UPD... deletion of 15q11-q13 on the paternally contributed chromosome, corresponding to a less than 1% recurrence
		Source: Das, Soma - Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

63		Clinical Features: Prader-Willi syndrome (PWS) [OMIM #176270] is a genetic disorder which causes hypotonia and poor feeding in
		Summary: 3/10 Clinical Features: Prader-Willi syndrome (PWS) [OMIM #176270] is a genetic disorder which... of several mechanisms including a de novo paternal deletion in this region, maternal uniparental disomy (UPD... deletion of 15q11-q13 on the paternally contributed chromosome, corresponding to a less than 1% recurrence
		Source: Gilad, Yoav - Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

64		Clinical Features: Prader-Willi syndrome (PWS) [OMIM #176270] is a genetic disorder which causes hypotonia and poor feeding in
		Summary: 3/10 Clinical Features: Prader-Willi syndrome (PWS) [OMIM #176270] is a genetic disorder which... of several mechanisms including a de novo paternal deletion in this region, maternal uniparental disomy (UPD... deletion of 15q11-q13 on the paternally contributed chromosome, corresponding to a less than 1% recurrence
		Source: Das, Soma - Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

65		MOLECULAR (DNA) TEST REQUISITION FOR CHG LAB USE ONLY: Center for Human Genetics, Inc. Date received: ________________________________
		Summary: 30 deletion (non-syndromic deafness) Smith-Lemli-Opitz syndrome (DHCR7 sequencing) PAK3 analysis... panel LEOPARD syndrome comprehensive panel X-linked Mental Retardation FLT3 common mutations NPM1 exon... , or single gene) Angelman syndrome Loeys-Dietz syndrome ...
		Source: Baloh, Bob - Department of Neurology, Washington University in St. Louis
		Collection: Biology and Medicine

66		Clinical Features: Crigler-Najjar syndromes (CN) are inborn disorders of the liver metabolism of bilirubin characterized by non-
		Summary: of the deletions in the UGT1a1 gene of the patients with Crigler-Najjar syndrome type 1 from Slovakia. Gen. Physiol... 8/11 Clinical Features: Crigler-Najjar syndromes (CN) are inborn disorders of the liver metabolism... -Najjar syndrome, type I (CN-I) [OMIM # 218800] is characterized by serum bilirubin more ...
		Source: Ober, Carole - Committee on Genetics & Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

67		Delorme et al. BMC Medical Genetics 2010, 11:100 http://www.biomedcentral.com/1471-2350/11/100
		Summary: .2 deletion syndrome (DiGeorge/ velocardiofacial syndrome) or Prader-Willi syndrome (15q11-13 deletion... microdeletion disorders, 22q11.2 deletion syndrome and Prader-Willi syndrome (PWS), due to deletion ...
		Source: Ecole Polytechnique, Centre de mathématiques
		Collection: Mathematics

68		Clinical Features: Patients with CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects
		Summary: CA, et al. "CHILD syndrome caused by a deletion of exons 6-8 of the NSDHL gene". (2006) Dermatology... 6/11 Clinical Features: Patients with CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform... identified in patients with CHILD syndrome [2]. This protein functions in the cholesterol biosynthetic
		Source: Ober, Carole - Committee on Genetics & Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

69		Page 1 of 3 See our QuickGuide to Genetic Testing for complete list of Costs, TAT, and CPT codes 11/11 THE UNIVERSITY OF CHICAGO GENETIC SERVICES LABORATORIES
		Summary: , and CPT codes 11/11 Angelman/Prader-Willi syndromes testing Angelman Syndrome Series (MS-MLPA and Tier 2... , if negative) MS-MLPA for PWS MS-MLPA for AS UPD15 Imprinting center deletion analysis UBE3A Sequencing UBE3A... Del/Dup (by array-CGH) SLC9A6 Sequencing SLC9A6 Del/Dup (by array-CGH) Angelman ...
		Source: Stephens, Matthew - Departments of Statistics & Human Genetics, University of Chicago
		Collection: Biology and Medicine ; Mathematics

70		Page 1 of 3 See our QuickGuide to Genetic Testing for complete list of Costs, TAT, and CPT codes 12/11 THE UNIVERSITY OF CHICAGO GENETIC SERVICES LABORATORIES
		Summary: , and CPT codes 12/11 Angelman/Prader-Willi syndromes testing Angelman Syndrome Series (MS-MLPA and Tier 2... , if negative) MS-MLPA for PWS MS-MLPA for AS UPD15 Imprinting center deletion analysis UBE3A Sequencing UBE3A... Del/Dup (by array-CGH) SLC9A6 Sequencing SLC9A6 Del/Dup (by array-CGH) Angelman ...
		Source: Das, Soma - Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

71		Abnormal Cortical Activation During Response Inhibition in 22q11.2 Deletion Syndrome
		Summary: Abnormal Cortical Activation During Response Inhibition in 22q11.2 Deletion Syndrome Doron Gothelf... .2 deletion syndrome (22q11.2DS) is a well-known genetic risk factor for schizophrenia. The catechol... ; parie- tal lobe; cingulate INTRODUCTION The 22q11.2 deletion ...
		Source: Stanford University - Center for Interdisciplinary Brain Sciences Research
		Collection: Biology and Medicine

72		Clinical Features: Mowat-Wilson syndrome (MWS) [OMIM # 235730] is characterized by distinctive facial features, which in young
		Summary: 8/10 Clinical Features: Mowat-Wilson syndrome (MWS) [OMIM # 235730] is characterized by distinctive... are large or intermediate-sized deletions that would not be detected by sequencing [4]. ZEB2 encodes... in both the forward and reverse directions. We also offer deletion/duplication analysis of ZEB2 by MLPA
		Source: Das, Soma - Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

73		Clinical Features: Mowat-Wilson syndrome (MWS) [OMIM # 235730] is characterized by distinctive facial features, which in young
		Summary: 8/10 Clinical Features: Mowat-Wilson syndrome (MWS) [OMIM # 235730] is characterized by distinctive... are large or intermediate-sized deletions that would not be detected by sequencing [4]. ZEB2 encodes... in both the forward and reverse directions. We also offer deletion/duplication analysis of ZEB2 by MLPA
		Source: Gilad, Yoav - Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

74		Clinical Features: Mowat-Wilson syndrome (MWS) [OMIM # 235730] is characterized by distinctive facial features, which in young
		Summary: 8/10 Clinical Features: Mowat-Wilson syndrome (MWS) [OMIM # 235730] is characterized by distinctive... are large or intermediate-sized deletions that would not be detected by sequencing [4]. ZEB2 encodes... in both the forward and reverse directions. We also offer deletion/duplication analysis of ZEB2 by MLPA
		Source: Das, Soma - Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

75		Am J Psychiatry 158:3, March 2001 447 Velocardiofacial Syndrome: Are Structural Changes
		Summary: of a localized and early effect of the velocardiofacial syndrome deletion on this re- gion (Table 1) deserves... , UFD1L, localized in the 2.0-megabase region commonly deleted in velocar- diofacial syndrome. Of 182... subjects with velocardiofacial syndrome, all had a ...
		Source: Stanford University - Center for Interdisciplinary Brain Sciences Research
		Collection: Biology and Medicine

76		LANGUAGE AND COMMUNICATIVE DEVELOPMENT IN WILLIAMS SYNDROME
		Summary: ) with Williams syndrome. All have classic deletions and have not been diag- nosed with autism spectrum disorder... and adolescents (aged 714 years) with Williams syndrome. All have clas- sic deletions and have not been diagnosed... of the early vocabularies of 13 children with Williams ...
		Source: Stromswold, Karin - Department of Psychology, Rutgers University
		Collection: Biology and Medicine

77		Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly
		Summary: , and learning disabilities, caused by mutations or deletions of the NSD1 gene, located at 5q35. Sotos syndrome... mutations or deletions of NSD1, indicating that Sotos syndrome is a rare cause of autism spectrum disorders... patients with a NSD1 mutation or deletion have the ...
		Source: Ecole Polytechnique, Centre de mathématiques
		Collection: Mathematics

78		Clinical Features: Patients with Robinow syndrome (RS) [OMIM #268310] have characteristic facial features, growth
		Summary: 6/11 Clinical Features: Patients with Robinow syndrome (RS) [OMIM #268310] have characteristic... Genetics: Robinow syndrome--Mutations of the ROR2 [OMIM #602337] gene have been identified in patients... ]. Inheritance: Robinow syndrome--ROR2 mutations that cause RRS are inherited in an autosomal recessive pattern
		Source: Ober, Carole - Committee on Genetics & Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

79		Homeostasis is the ability of a system to return to a set point following perturbation. Much is understood about neuronal homeostatic mecha-
		Summary: significant neurodevelopmental and psychiatric morbidity. The 22q11.2 deletion syndrome is caused by the loss... of the q11.2 region from one copy of chromosome 22. Individuals with this deletion syndrome have highly... ) and Angelman syndrome (bottom) involve ...
		Source: Vosshall, Leslie - L:aboratory of Neurogenetics and Behavior, Rockefeller University
		Collection: Biology and Medicine

80		I. Cellular options to DNA damage II. DNA mismatch repair
		Summary: pyrimidine dimers in DNA If not repaired, pyrimidine dimers result in 1-2 nt deletions or a substitution... (AT)! Nijmegen Breakage Syndrome (NBS)! Bloom s Syndrome (BS)! Fanconi anemia (FA)! Xeroderma... Pigmentosum Variant (XPV)! Hereditary Non-polyposis Colon Cancer (HNPCC)! Cockayne Syndrome (CS)! ...
		Source: Lycan, Deborah E. - Department of Biology, Lewis and Clark College
		Collection: Biology and Medicine

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81		Clinical Features: Patients with Rubinstein-Taybi syndrome (RSTS) [OMIM #180849] have characteristic facial features, short
		Summary: 5/10 Clinical Features: Patients with Rubinstein-Taybi syndrome (RSTS) [OMIM #180849] have... ,4], and approximately 10-20% of patients with RSTS have intragenic deletions or duplications involving one or more exons... exons. These intragenic deletions/duplications will not be detected by FISH or CGH analysis
		Source: Das, Soma - Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

82		Clinical Features: Patients with Rubinstein-Taybi syndrome (RSTS) [OMIM #180849] have characteristic facial features, short
		Summary: 5/10 Clinical Features: Patients with Rubinstein-Taybi syndrome (RSTS) [OMIM #180849] have... ,4], and approximately 10-20% of patients with RSTS have intragenic deletions or duplications involving one or more exons... exons. These intragenic deletions/duplications will not be detected by FISH or CGH analysis
		Source: Gilad, Yoav - Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

83		Clinical Features: Patients with Rubinstein-Taybi syndrome (RSTS) [OMIM #180849] have characteristic facial features, short
		Summary: 5/10 Clinical Features: Patients with Rubinstein-Taybi syndrome (RSTS) [OMIM #180849] have... ,4], and approximately 10-20% of patients with RSTS have intragenic deletions or duplications involving one or more exons... exons. These intragenic deletions/duplications will not be detected by FISH or CGH analysis
		Source: Das, Soma - Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

84		Clinical Features: CDKL5 mutations have been demonstrated in a broad spectrum of phenotypes [1-5], including
		Summary: -5], including: X-linked infantile spasms (ISSX) or West syndrome--triad of infantile spasms, hypsarrhythmia... , and severe mental retardation Infantile epileptic encephalopathy Otohara syndrome Atypical Rett syndrome... with infantile spasms or the Hanefeld variant Mild mental retardation and autism Angelman ...
		Source: Das, Soma - Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

85		Does diagnosis of the metabolic syndrome detect further men at high risk of cardiovascular death beyond those
		Summary: 1/1 Does diagnosis of the metabolic syndrome detect further men at high risk of cardiovascular... Study Group Short title: Metabolic syndrome and cardiovascular risk scores Abstract: 226 words Text... .0000230107.78524.da #12;2/2 Abstract Background It is not known whether the metabolic syndrome detects
		Source: Ecole Polytechnique, Centre de mathématiques
		Collection: Mathematics

86		Clinical Features: CDKL5 mutations have been demonstrated in a broad spectrum of phenotypes [1-5], including
		Summary: -5], including: X-linked infantile spasms (ISSX) or West syndrome--triad of infantile spasms, hypsarrhythmia... , and severe mental retardation Infantile epileptic encephalopathy Otohara syndrome Atypical Rett syndrome... with infantile spasms or the Hanefeld variant Mild mental retardation and autism Angelman ...
		Source: Ober, Carole - Committee on Genetics & Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

87		Biol Psychiatry . Author manuscript Screening for genomic rearrangements and methylation abnormalities of
		Summary: with Angelman syndrome, one with a maternal deletion and the other with a paternal uniparental disomy... Deletion ; Gene Dosage ; Humans ; Male ; Microsatellite Repeats/ genetics ; Prader-Willi Syndrome/ genetics... ; Uniparental Disomy Author Keywords autism ; chromosome 15 ; deletion ; ...
		Source: Ecole Polytechnique, Centre de mathématiques
		Collection: Mathematics

88		Original article Impact of geometry and viewing angle
		Summary: of patients each being affected by one in 14 syndromes (Micro- deletion 22q11.2, WolfeHirschhorn syndrome, Cri... demonstrated to be effective in a small number of syndromes. In this paper we investigate several aspects... of increasing the number of syndromes from 10 to 14 as compared ...
		Source: Ruhr-Universität Bochum - Institut für Neuroinformatik (INI)
		Collection: Computer Technologies and Information Sciences

89		BioMed Central Page 1 of 6
		Summary: Donald-McGinn D, Zackai EH, Driscoll DA: Identification of a patient with Bernard-Soulier syndrome and a deletion... in a patient with Bernard-Soulier syndrome associated with a homozygous single base pair deletion in the gene... . Afshar-Kharghan V, Lopez JA: Bernard-Soulier syndrome ...
		Source: Ecole Polytechnique, Centre de mathématiques
		Collection: Mathematics

90		DRUG DISCOVERY Transcriptional mechanisms of
		Summary: deleted in del22q11 might be responsible for the DiGeorge syndrome phenotype. Targeted mutations... ,23,24]. In addition, Borozdin et al. demonstrated that Okihiro syndrome can also be caused by deletions of either... Borozdin, W. et al. (2004) SALL4 deletions are a common cause of ...
		Source: Conlon, Frank - Department of Genetics, University of North Carolina at Chapel Hill
		Collection: Biology and Medicine

91		BioMed Central Page 1 of 7
		Summary: or deletions of the NSD1 gene, located at 5q35. Sotos syndrome has been described in a number of patients... syndrome is a rare cause of autism spectrum disorders and that screening for NSD1 mutations and deletions... mutations or deletions of NSD1, indicating that Sotos ...
		Source: Ecole Polytechnique, Centre de mathématiques
		Collection: Mathematics

92		Clinical Features: CDKL5 mutations have been demonstrated in a broad spectrum of phenotypes [1-5], including
		Summary: -5], including: X-linked infantile spasms (ISSX) or West syndrome--triad of infantile spasms, hypsarrhythmia... , and severe mental retardation Infantile epileptic encephalopathy Otohara syndrome Atypical Rett syndrome... with infantile spasms or the Hanefeld variant Mild mental retardation and autism Angelman ...
		Source: Das, Soma - Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

93		Clinical Features: CDKL5 mutations have been demonstrated in a broad spectrum of phenotypes [1-5], including
		Summary: -5], including: X-linked infantile spasms (ISSX) or West syndrome--triad of infantile spasms, hypsarrhythmia... , and severe mental retardation Infantile epileptic encephalopathy Otohara syndrome Atypical Rett syndrome... with infantile spasms or the Hanefeld variant Mild mental retardation and autism Angelman ...
		Source: Gilad, Yoav - Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

94		Clinical Features: Patients with Cornelia de Lange syndrome (CdLS) [OMIM #122470] have characteristic facial features, growth
		Summary: 5/10 Clinical Features: Patients with Cornelia de Lange syndrome (CdLS) [OMIM #122470] have... in the NIPBL gene. Recently, intragenic deletions of one or more exons of NIPBL have been reported... exons. Only missense mutations and in-frame deletions have been identified in the SMC1A gene. Patients
		Source: Das, Soma - Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

95		Clinical Features: Patients with Cornelia de Lange syndrome (CdLS) [OMIM #122470] have characteristic facial features, growth
		Summary: 5/10 Clinical Features: Patients with Cornelia de Lange syndrome (CdLS) [OMIM #122470] have... in the NIPBL gene. Recently, intragenic deletions of one or more exons of NIPBL have been reported... exons. Only missense mutations and in-frame deletions have been identified in the SMC1A gene. Patients
		Source: Gilad, Yoav - Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

96		Clinical Features: Patients with Cornelia de Lange syndrome (CdLS) [OMIM #122470] have characteristic facial features, growth
		Summary: 5/10 Clinical Features: Patients with Cornelia de Lange syndrome (CdLS) [OMIM #122470] have... in the NIPBL gene. Recently, intragenic deletions of one or more exons of NIPBL have been reported... exons. Only missense mutations and in-frame deletions have been identified in the SMC1A gene. Patients
		Source: Das, Soma - Department of Human Genetics, University of Chicago
		Collection: Biology and Medicine

97		Holoprosencephaly: an update on cytogenetic abnormalities CLAUDE BENDAVID, VALRIE DUP, LUCIE ROCHARD, ISABELLE
		Summary: . tested 10 HPE patients with known deletions: eight SHH deletions (7q36) and two TGIF deletions (18p... and others 2000; Pasquier and others 2000; Wallis and others 1999], and TGIF (18p11.3) (HPE4) [Aguilella... responsible for CHARGE ...
		Source: Ecole Polytechnique, Centre de mathématiques
		Collection: Mathematics

98		UNCORRECTEDPROOF Neural phenotypes of common and rare genetic variants
		Summary: will specifically focus on the examples of the 22q11.2 deletion syndrome (velocardiofacial syndrome; 22q11.2DS... .2 deletion syndrome is often viewed as a developmental model for psychosis, whereas fragile X is considered... to be a model for autism (Schaer and Eliez, 2007). Williams ...
		Source: Thompson, Paul - Laboratory of Neuro Imaging, University of California at Los Angeles
		Collection: Biology and Medicine

99		Deaf Today v2.0: The singing syndrome http://www.deaftoday.com/news/archives/001151.html 1 of 8 8/31/05 8:12 PM
		Summary: Deaf Today v2.0: The singing syndrome http://www.deaftoday.com/news/archives/001151.html 1 of 8 8... 11, 2003 The singing syndrome From: The Globe and Mail, Canada - 11 Jan 2003 They have pixie... , a born performer, was also born with a rare neurogenetic disorder called Williams syndrome. It has given
		Source: Levitin, Daniel - Department of Psychology, McGill University
		Collection: Biology and Medicine

100		1/9/09 2:19 PMSchizophrenia Forum -Print News Page 1 of 8http://www.schizophreniaforum.org/new/detailprint.asp?id=1436
		Summary: , another gene deleted in 22q11 deletion syndrome (22q11DS, encompassing velocardiofacial syndrome and Di... report of a postmortem study of neuropathology of three patients with 22q11 deletion syndrome... , understanding whether and which miRNAs are affected in people ...
		Source:
		Collection: Biology and Medicine

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