Peripheral neuropathy with hypomyelination, chronic intestinal pseudo-obstruction and deafness: A developmental ?neural crest syndrome? related to a SOX10 mutation

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

1991 • 1,293 citations

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

1998 • 806 citations

Sox10, a Novel Transcriptional Modulator in Glial Cells

1998 • 759 citations

SOX10 mutation disrupts neural crest development in Dom Hirschsprung mouse model

1998 • 725 citations

Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies

1998 • 478 citations

A genetic study of Hirschsprung disease.

1990 • 426 citations

Clinical Phenotypes of Different MPZ (P0) Mutations May Include Charcot–Marie–Tooth Type 1B, Dejerine–Sottas, and Congenital Hypomyelination

1996 • 362 citations

Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease

1995 • 311 citations

Protein Zero Gene Expression Is Regulated by the Glial Transcription Factor Sox10

2000 • 216 citations

P0 and PMP22 mark a multipotent neural crest-derived cell type that displays community effects in response to TGF-β family factors

1999 • 177 citations

Myelin deficiencies in both the central and the peripheral nervous systems associated with aSOX10 mutation

1999 • 174 citations

Neurological Phenotype in Waardenburg Syndrome Type 4 Correlates with Novel SOX10 Truncating Mutations and Expression in Developing Brain

2000 • 161 citations

Novel missense mutation in the early growth response 2 gene associated with Dejerine–Sottas syndrome phenotype

1999 • 149 citations

Chronic intestinal pseudoobstruction syndrome: clinical analysis, outcome, and prognosis in 105 children. French-Speaking Group of Pediatric Gastroenterology.

1999 • 135 citations

Association of megacolon with a new dominant spotting gene (Dom) in the mouse

1984 • 123 citations

CONGENITAL HYPOMYELINATION POLYNEUROPATHY

1982 • 90 citations

Visceral Neuropathies Responsible for Chronic Intestinal Pseudo-Obstruction Syndrome in Pediatric Practice

1990 • 63 citations

Assignment of microsatellite sequences to the region duplicated in CMT1A (17p12): a useful tool for diagnosis.

1995 • 27 citations