Associated Papers
Proof of Concept for Genome Profiling of the Neurofibroma/Sarcoma Sequence in Neurofibromatosis Type 1.
Cannizzaro IR et al.
International Journal of Molecular Sciences, 2024
Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration.
Sun F et al.
Orphanet Journal of Rare Diseases, 2024
Genetic heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB variants detected among hearing impaired families in Morocco.
AitRaise I et al.
Molecular Biology Reports, 2022
A clinical and genetic study of 16 Japanese families with Waardenburg syndrome.
Minami SB et al.
Gene, 2019
New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing.
Li W et al.
Neural Plasticity, 2019
Homozygous EDNRB mutation in a patient with Waardenburg syndrome type 1.
Morimoto N et al.
Auris, Nasus, Larynx, 2018
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
Novel mutations of endothelin-B receptor gene in Pakistani patients with Waardenburg syndrome.
Jabeen R et al.
Molecular Biology Reports, 2012
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
The G protein-coupled receptors: pharmacogenetics and disease.
Thompson MD et al.
Critical Reviews in Clinical Laboratory Sciences, 2005
Functional characterization of three mutations of the endothelin B receptor gene in patients with Hirschsprung's disease: evidence for selective loss of Gi coupling.
Fuchs S et al.
Molecular Medicine (cambridge, Mass.), 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
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
Mutational analysis of the endothelin-B receptor gene in Japanese Hirschsprung's disease.
Inoue M et al.
Journal of Pediatric Surgery, 1998
Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease.
Amiel J et al.
Human Molecular Genetics, 1996