Associated Papers
Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.
Sprissler R et al.
Cancers, 2020
Waardenburg syndrome: Novel mutations in a large Brazilian sample.
Bocángel MAP et al.
European Journal of Medical Genetics, 2018
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M et al.
Nature, 2016
Polymorphisms in endothelin system genes, arsenic levels and obesity risk.
Martínez-Barquero V et al.
Plos One, 2015
Structural and energetic analyses of SNPs in drug targets and implications for drug therapy.
Sun HY et al.
Journal of Chemical Information and Modeling, 2013
Novel mutations of endothelin-B receptor gene in Pakistani patients with Waardenburg syndrome.
Jabeen R et al.
Molecular Biology Reports, 2012
EDNRB gene variants and melanoma risk in two southern European populations.
Spica T et al.
Clinical and Experimental Dermatology, 2011
Pigmentation-related genes and their implication in malignant melanoma susceptibility.
Fernandez LP et al.
Experimental Dermatology, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
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
Association between endothelin receptor B nonsynonymous variants and melanoma risk.
Soufir N et al.
Journal of the National Cancer Institute, 2005
Hirschsprung disease in an infant with a contiguous gene syndrome of chromosome 13.
Shanske A et al.
American Journal of Medical Genetics, 2001
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 consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome).
Brooks AS et al.
Journal of Medical 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
Genetic aspects of Hirschsprung's disease.
Kusafuka T et al.
Seminars in Pediatric Surgery, 1998
Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population.
Auricchio A et al.
Human Molecular Genetics, 1996