Genetic localization of an autosomal dominant leukodystrophy mimicking chronic progressive multiple sclerosis to chromosome 5q31
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journal
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March 2000 |
Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms
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journal
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January 2011 |
Isolated noradrenergic failure in adult-onset autosomal dominant leukodystrophy
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journal
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January 2011 |
Adult-onset autosomal dominant leukodystrophy with autonomic symptoms restricted to 1.5 Mbp on chromosome 5q23
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journal
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January 2006 |
A Novel Duplication Confirms the Involvement of 5q23.2 in Autosomal Dominant Leukodystrophy
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journal
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November 2008 |
Autosomal Dominant Leukodystrophy Caused by Lamin B1 Duplications: A Clinical and Molecular Case Study of Altered Nuclear Function and Disease
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book
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January 2010 |
Lamin B1 duplications cause autosomal dominant leukodystrophy
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journal
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September 2006 |
A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations: ADLD without
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journal
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December 2009 |
Lamin B1 is required for mouse development and nuclear integrity
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journal
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July 2004 |
Lamin B1 overexpression increases nuclear rigidity in autosomal dominant leukodystrophy fibroblasts
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journal
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September 2014 |
Defects in lamin B1 expression or processing affect interphase chromosome position and gene expression
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journal
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February 2007 |
The integrity of a lamin-B1-dependent nucleoskeleton is a fundamental determinant of RNA synthesis in human cells
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journal
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March 2008 |
Regulation of Myelination in the Central Nervous System by Nuclear Lamin B1 and Non-coding RNAs
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journal
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January 2014 |
Autosomal Dominant Late-Onset Leukoencephalopathy
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journal
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January 1997 |
MRI and CT in an autosomal-dominant, adult-onset leukodystrophy
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journal
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June 1997 |
A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy
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journal
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February 2009 |
Analysis of LMNB 1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression
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journal
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May 2013 |
A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation
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journal
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January 2009 |
An evaluation of 3C-based methods to capture DNA interactions
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journal
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October 2007 |
Circular chromosome conformation capture (4C) uncovers extensive networks of epigenetically regulated intra- and interchromosomal interactions
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journal
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October 2006 |
Structural variations, the regulatory landscape of the genome and their alteration in human disease: Prospects & Overviews
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journal
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April 2013 |
Homeotic Arm-to-Leg Transformation Associated with Genomic Rearrangements at the PITX1 Locus
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journal
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October 2012 |
In vivo enhancer analysis of human conserved non-coding sequences
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journal
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November 2006 |
Topological domains in mammalian genomes identified by analysis of chromatin interactions
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journal
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April 2012 |
Deletions of chromosomal regulatory boundaries are associated with congenital disease
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journal
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September 2014 |
Evolution from fish to Mammals by gene Duplication
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journal
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February 1968 |
MicroRNA-23a promotes myelination in the central nervous system
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journal
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October 2013 |
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2
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journal
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May 2000 |
Mutations in antiquitin in individuals with pyridoxine-dependent seizures
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journal
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February 2006 |
PHAX, a Mediator of U snRNA Nuclear Export Whose Activity Is Regulated by Phosphorylation
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journal
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April 2000 |
A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX
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journal
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October 2014 |
Capturing Chromosome Conformation
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journal
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February 2002 |
Copy number variation at 6q13 functions as a long-range regulator and is associated with pancreatic cancer risk
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journal
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October 2011 |
Disease-Causing 7.4 kb Cis-Regulatory Deletion Disrupting Conserved Non-Coding Sequences and Their Interaction with the FOXL2 Promotor: Implications for Mutation Screening
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journal
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June 2009 |
An integrated encyclopedia of DNA elements in the human genome
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journal
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September 2012 |
Metrics of sequence constraint overlook regulatory sequences in an exhaustive analysis at phox2b
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journal
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February 2008 |
The Transcription Factor Yin Yang 1 Is Essential for Oligodendrocyte Progenitor Differentiation
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journal
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July 2007 |
Bcl11a is required for neuronal morphogenesis and sensory circuit formation in dorsal spinal cord development
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journal
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April 2012 |
Essential role of Gata transcription factors in sympathetic neuron development
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journal
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October 2004 |
VISTA Enhancer Browser--a database of tissue-specific human enhancers
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journal
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January 2007 |
Enhancer-adoption as a mechanism of human developmental disease
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journal
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October 2011 |
Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain
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journal
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July 2009 |
Nanomechanical analysis of cells from cancer patients
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journal
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December 2007 |
Dimensional and mechanical dynamics of active and stable edges in motile fibroblasts investigated by using atomic force microscopy
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journal
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February 1999 |
Direct, high-resolution measurement of furrow stiffening during division of adherent cells
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journal
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May 2001 |
Calibration of atomic‐force microscope tips
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journal
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July 1993 |
Atomic Force Microscopy in Mechanobiology: Measuring Microelastic Heterogeneity of Living Cells
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book
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January 2011 |
Influence of Lamin A on the Mechanical Properties of Amphibian Oocyte Nuclei Measured by Atomic Force Microscopy
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journal
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May 2009 |
AFM stiffness nanotomography of normal, metaplastic and dysplastic human esophageal cells
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journal
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February 2011 |
Determination of Elastic Moduli of Thin Layers of Soft Material Using the Atomic Force Microscope
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journal
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May 2002 |
The UCSC Genome Browser Database: update 2006
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journal
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January 2006 |
BLAT---The BLAST-Like Alignment Tool
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journal
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March 2002 |
Decellularized Extracellular Matrix (ECM) as a Model to Study Fibrotic ECM Mechanobiology
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book
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May 2021 |
AFM Stiffness Nanotomography of Normal, Metaplastic and Dysplastic Human Esophageal Cells
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journal
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February 2011 |
Comparison of 15 dinoflagellate genomes reveals extensive sequence and structural divergence in family Symbiodiniaceae and genus Symbiodinium
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journal
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April 2021 |
Dimensional and mechanical dynamics of active and stable edges in motile fibroblasts investigated by using atomic force microscopy
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text
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January 1999 |
Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression
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journal
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October 2013 |
Nanomechanical Analysis of Cells from Cancer Patients
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book
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November 2020 |
An integrated encyclopedia of DNA elements in the human genome
- Libraries, The University of North Carolina at Chapel Hill University
-
The University of North Carolina at Chapel Hill University Libraries
https://doi.org/10.17615/wcvb-k036
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text
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January 2012 |
FOXL2copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions
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journal
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January 2010 |
Location, Location,Cis-mutation
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journal
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November 2011 |
Comment on critical region for talipes equinovarus in patients with 5q23 deletions
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journal
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April 2015 |
Lamins A and C but Not Lamin B1 Regulate Nuclear Mechanics
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journal
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July 2006 |
The Sp1 Family of Transcription Factors Is Involved in p27Kip1-Mediated Activation of Myelin Basic Protein Gene Expression
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journal
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June 2003 |
Lamin B1 mediates cell-autonomous neuropathology in a leukodystrophy mouse model
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journal
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May 2013 |
MR Imaging Characteristics and Neuropathology of the Spinal Cord in Adult-Onset Autosomal Dominant Leukodystrophy with Autonomic Symptoms
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journal
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October 2008 |