Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
PROPHYLACTIC LASER RETINOPEXY AND SCLERAL BUCKLE PLACEMENT FOR RETINAL DETACHMENT PREVENTION IN PIERSON SYNDROME: A Retrospective, Case Series Study.
Sather RN et al.
Retina (philadelphia, Pa.), 2025
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
The Emerging Genetic Landscape of Hirschsprung Disease and Its Potential Clinical Applications.
Karim A et al.
Frontiers in Pediatrics, 2021
A gene regulatory network explains RET-EDNRB epistasis in Hirschsprung disease.
Chatterjee S et al.
Human Molecular Genetics, 2019
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
Hirschsprung disease is associated with an L286P mutation in the fifth transmembrane domain of the endothelin-B receptor in the N-ethyl-N-nitrosourea-induced mutant line.
Chen B et al.
Experimental Animals, 2016
[Hereditary hypomelanocytoses: the role of PAX3, SOX10, MITF, SNAI2, KIT, EDN3 and EDNRB genes].
Otręba M et al.
Postepy Higieny I Medycyny Doswiadczalnej (online), 2013
Hirschsprung's disease as a model of complex genetic etiology.
Borrego S et al.
Histology and Histopathology, 2013
Genetic Analyses of a Three Generation Family Segregating Hirschsprung Disease and Iris Heterochromia.
Cui L et al.
Plos One, 2013
Advances in molecular genetics of Hirschsprung's disease.
Pan ZW et al.
Anatomical Record (hoboken, N.j. : 2007), 2012
Novel mutations of endothelin-B receptor gene in Pakistani patients with Waardenburg syndrome.
Jabeen R et al.
Molecular Biology Reports, 2012
Genetic interactions and modifier genes in Hirschsprung's disease.
Wallace AS et al.
World Journal of Gastroenterology, 2011
QTL analysis identifies a modifier locus of aganglionosis in the rat model of Hirschsprung disease carrying Ednrb(sl) mutations.
Dang R et al.
Plos One, 2011
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Review and update of mutations causing Waardenburg syndrome.
Pingault V et al.
Human Mutation, 2010
Functional analysis of the 5' regulatory region of the 5-aminolevulinate synthase (ALAS1) gene in response to estrogen.
du Plessis N et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2009
Analysis of RET, ZEB2, EDN3 and GDNF genomic rearrangements in 80 patients with Hirschsprung disease (using multiplex ligation-dependent probe amplification).
Serra A et al.
Annals of Human Genetics, 2009
A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV.
Morín M et al.
American Journal of Medical Genetics. Part A, 2008
Hirschsprung disease, associated syndromes and genetics: a review.
Amiel J et al.
Journal of Medical Genetics, 2008
Mutation analysis of endothelin-B receptor gene in patients with Hirschsprung disease in Taiwan.
Lin YC et al.
Journal of Pediatric Gastroenterology and Nutrition, 2008
G protein-coupled receptors disrupted in human genetic disease.
Thompson MD et al.
Methods in Molecular Biology (clifton, N.j.), 2008
A French CDK4-positive melanoma family with a co-inherited EDNRB mutation.
Soufir N et al.
Journal of Dermatological Science, 2007
Allele dosage-dependent penetrance of RET proto-oncogene in an Israeli-Arab inbred family segregating Hirschsprung disease.
Basel-Vanagaite L et al.
European Journal of Human Genetics : Ejhg, 2007
Novel mutation of Endothelin-B receptor gene in Waardenburg-Hirschsprung disease.
Sangkhathat S et al.
Pediatric Surgery International, 2005
Genetic variation in G-protein-coupled receptors--consequences for G-protein-coupled receptors as drug targets.
Tang CM et al.
Expert Opinion on Therapeutic Targets, 2005
Association between endothelin receptor B nonsynonymous variants and melanoma risk.
Soufir N et al.
Journal of the National Cancer Institute, 2005
The G protein-coupled receptors: pharmacogenetics and disease.
Thompson MD et al.
Critical Reviews in Clinical Laboratory Sciences, 2005
Exhaustive allelic transmission disequilibrium tests as a new approach to genome-wide association studies.
Lin S et al.
Nature Genetics, 2004
The genetics of Hirschsprung disease.
Stewart DR et al.
Gastroenterology Clinics of North America, 2003
Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease.
Carrasquillo MM et al.
Nature Genetics, 2002
Two novel transcripts for human endothelin B receptor produced by RNA editing/alternative splicing from a single gene.
Tanoue A et al.
The Journal of Biological Chemistry, 2002
Hirschsprung disease, associated syndromes, and genetics: a review.
Amiel J et al.
Journal of Medical Genetics, 2001
EDNRB/EDN3 and Hirschsprung disease type II.
McCallion AS et al.
Pigment Cell Research, 2001
Functional analysis of five endothelin-B receptor mutations found in human Hirschsprung disease patients.
Abe Y et al.
Biochemical and Biophysical Research Communications, 2000
Pathogenesis of Hirschsprung's disease.
Martucciello G et al.
Journal of Pediatric Surgery, 2000
Japanese patients with sporadic Hirschsprung: mutation analysis of the receptor tyrosine kinase proto-oncogene, endothelin-B receptor, endothelin-3, glial cell line-derived neurotrophic factor and neurturin genes: a comparison with similar studies.
Sakai T et al.
European Journal of Pediatrics, 2000
A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.
Bolk S et al.
Proceedings of the National Academy of Sciences of the United States of America, 2000
[Molecular genetics of Hirschsprung disease: a model of multigenic neurocristopathy].
Amiel J et al.
Journal De La Societe De Biologie, 2000
Novel nonsense mutation of the endothelin-B receptor gene in a family with Waardenburg-Hirschsprung disease.
Syrris P et al.
American Journal of Medical Genetics, 1999
Association of RET protooncogene codon 45 polymorphism with Hirschsprung disease.
Fitze G et al.
American Journal of Human Genetics, 1999
Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease.
Auricchio A et al.
American Journal of Human Genetics, 1999
The Sox10(Dom) mouse: modeling the genetic variation of Waardenburg-Shah (WS4) syndrome.
Southard-Smith EM et al.
Genome Research, 1999
Genetic aspects of Hirschsprung's disease.
Kusafuka T et al.
Seminars in Pediatric Surgery, 1998
Mutational analysis of the endothelin-B receptor gene in Japanese Hirschsprung's disease.
Inoue M et al.
Journal of Pediatric Surgery, 1998
Hirschsprung's disease genes and the development of the enteric nervous system.
Wartiovaara K et al.
Annals of Medicine, 1998