Associated Papers
Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study.
Kouri C et al.
Ebiomedicine, 2025
Genomic classification of benign adrenocortical lesions.
Faillot S et al.
Endocrine-related Cancer, 2021
Variants in ALX4 and their association with genitourinary defects.
Chen CH et al.
Andrology, 2020
Systems Biology Approaches Reveal Potential Phenotype-Modifier Genes in Neurofibromatosis Type 1.
Woycinck Kowalski T et al.
Cancers, 2020
Review on significance of GDNF, PTCH1 and RNF213 in chromophobe renal cell carcinoma illustrated by the case of 71-years-old man.
Kowalik A et al.
Polish Journal of Pathology : Official Journal of the Polish Society of Pathologists, 2020
High-frequency actionable pathogenic exome variants in an average-risk cohort.
Rego S et al.
Cold Spring Harbor Molecular Case Studies, 2018
Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?
Camats N et al.
European Journal of Human Genetics : Ejhg, 2018
Updates on the genetics and the clinical impacts on phaeochromocytoma and paraganglioma in the new era.
Pillai S et al.
Critical Reviews in Oncology/hematology, 2016
Next-generation-based targeted sequencing as an efficient tool for the study of the genetic background in Hirschsprung patients.
Luzón-Toro B et al.
Bmc Medical Genetics, 2015
PHOX2B polyalanine repeat length is associated with sudden infant death syndrome and unclassified sudden infant death in the Dutch population.
Liebrechts-Akkerman G et al.
International Journal of Legal Medicine, 2014
Medullary sponge kidney: state of the art.
Fabris A et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2013
Traditional and targeted exome sequencing reveals common, rare and novel functional deleterious variants in RET-signaling complex in a cohort of living US patients with urinary tract malformations.
Chatterjee R et al.
Human Genetics, 2012
Expression of PROKR1 and PROKR2 in human enteric neural precursor cells and identification of sequence variants suggest a role in HSCR.
Ruiz-Ferrer M et al.
Plos One, 2011
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Common variants of the glial cell-derived neurotrophic factor gene do not influence kidney size of the healthy newborn.
Zhang Z et al.
Pediatric Nephrology (berlin, Germany), 2009
Genetics and early disturbances of breathing control.
Gaultier C et al.
Pediatric Research, 2004
Highly recurrent RET mutations and novel mutations in genes of the receptor tyrosine kinase and endothelin receptor B pathways in Chinese patients with sporadic Hirschsprung disease.
Garcia-Barceló M et al.
Clinical Chemistry, 2004
The genetic basis of pheochromocytoma.
Gimm O et al.
Frontiers of Hormone Research, 2004
Neuroblastoma - a developmental perspective.
McConville CM et al.
Cancer Letters, 2003
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.
Amiel J et al.
Nature Genetics, 2003
Hirschsprung associated GDNF mutations do not prevent RET activation.
Borghini S et al.
European Journal of Human Genetics : Ejhg, 2002
[Molecular genetics of Hirschsprung disease: a model of multigenic neurocristopathy].
Amiel J et al.
Journal De La Societe De Biologie, 2000
Mutations of the RET-GDNF signaling pathway in Ondine's curse.
Amiel J et al.
American Journal of Human Genetics, 1998
Mutation analysis of glial cell line-derived neurotrophic factor, a ligand for an RET/coreceptor complex, in multiple endocrine neoplasia type 2 and sporadic neuroendocrine tumors.
Marsh DJ et al.
The Journal of Clinical Endocrinology and Metabolism, 1997
Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL.
Woodward ER et al.
Human Molecular Genetics, 1997
Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient.
Angrist M et al.
Nature Genetics, 1996
Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease.
Salomon R et al.
Nature Genetics, 1996
[Genetics of Hirschsprung disease].
Attié T et al.
Comptes Rendus Des Seances De La Societe De Biologie Et De Ses Filiales, 1996