Related references
Note: Only part of the references are listed.Genome-wide analysis of transcript isoform variation in humans
Tony Kwan et al.
NATURE GENETICS (2008)
Hirschsprung disease, associated syndromes and genetics: a review
J. Amiel et al.
JOURNAL OF MEDICAL GENETICS (2008)
A second generation human haplotype map of over 3.1 million SNPs
Kelly A. Frazer et al.
NATURE (2007)
Genome-wide detection and characterization of positive selection in human populations
Pardis C. Sabeti et al.
NATURE (2007)
PLINK: A tool set for whole-genome association and population-based linkage analyses
Shaun Purcell et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
A new multipoint method for genome-wide association studies by imputation of genotypes
Jonathan Marchini et al.
NATURE GENETICS (2007)
Principal components analysis corrects for stratification in genome-wide association studies
Alkes L. Price et al.
NATURE GENETICS (2006)
A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk
ES Emison et al.
NATURE (2005)
Whole-genome patterns of common DNA variation in three human populations
DA Hinds et al.
SCIENCE (2005)
Haploview: analysis and visualization of LD and haplotype maps
JC Barrett et al.
BIOINFORMATICS (2005)
TTF-1 and RET promoter SNPs:: regulation of RET transcription in Hirschsprung's disease
M Garcia-Barcelo et al.
HUMAN MOLECULAR GENETICS (2005)
Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations
K Inoue et al.
NATURE GENETICS (2004)
Interactions between Sox10 and EdnrB modulate penetrance and severity of aganglionosis in the Sox10Dom mouse model of Hirschsprung disease
VA Cantrell et al.
HUMAN MOLECULAR GENETICS (2004)
Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2
GM Burzynski et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2004)
Spatiotemporal regulation of endothelin receptor-B by SOX10 in neural crest-derived enteric neuron precursors
L Zhu et al.
NATURE GENETICS (2004)
Enteric nervous system progenitors are coordinately controlled by the G protein-coupled receptor EDNRB and the receptor tyrosine kinase RET
A Barlow et al.
NEURON (2003)
Disruption of ErbB receptor signaling in adult non-myelinating Schwann cells causes progressive sensory loss
SZ Chen et al.
NATURE NEUROSCIENCE (2003)
Single nucleotide polymorphic alleles in the 5′ region of the RET proto-oncogene define a risk haplotype in Hirschsprung's disease
M Sancandi et al.
JOURNAL OF MEDICAL GENETICS (2003)
Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer
D Lang et al.
HUMAN MOLECULAR GENETICS (2003)
Neuregulins: functions, forms, and signaling strategies
DL Falls
EXPERIMENTAL CELL RESEARCH (2003)
Phenotype variation in two-locus mouse models of Hirschsprung disease:: Tissue-specific interaction between Ret and Ednrb
AS McCallion et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2003)
Colonic epithelial expression of ErbB2 is required for postnatal maintenance of the enteric nervous system
SA Crone et al.
NEURON (2003)
Sox10 haploinsufficiency affects maintenance of progenitor cells in a mouse model of Hirschsprung disease
C Paratore et al.
HUMAN MOLECULAR GENETICS (2002)
Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease
MM Carrasquillo et al.
NATURE GENETICS (2002)
Enteric nervous system: Development and developmental disturbances - Part 2
D Newgreen et al.
PEDIATRIC AND DEVELOPMENTAL PATHOLOGY (2002)
SOX10 is abnormally expressed in aganglionic bowel of Hirschsprung's disease infants
MH Sham et al.
GUT (2001)
The transcription factor Sox10 is a key regulator of peripheral glial development
S Britsch et al.
GENES & DEVELOPMENT (2001)
RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease
S Borrego et al.
JOURNAL OF MEDICAL GENETICS (2000)
A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus
S Bolk et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2000)