Nadege Gigot

Dijon, France

Last Updated: 09/26/2026

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Found 15 publications

Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.

Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.

Journal: Journal of medical genetics

Published: December 14, 2016

A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability.

A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability.

Journal: European journal of human genetics : EJHG

Published: January 29, 2015

Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations.

Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations.

Journal: American journal of medical genetics. Part A

Published: December 07, 2014

Severe X-linked chondrodysplasia punctata in nine new female fetuses.

Severe X-linked chondrodysplasia punctata in nine new female fetuses.

Journal: Prenatal diagnosis

Published: September 30, 2014

Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma.

Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma.

Journal: European journal of human genetics : EJHG

Published: May 06, 2014

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.

Journal: Nature genetics

Published: December 23, 2013

Cohen syndrome is associated with major glycosylation defects.

Cohen syndrome is associated with major glycosylation defects.

Journal: Human molecular genetics

Published: December 17, 2013

Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.

Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.

Journal: Clinical genetics

Published: November 12, 2013

C5orf42 is the major gene responsible for OFD syndrome type VI.

C5orf42 is the major gene responsible for OFD syndrome type VI.

Journal: Human genetics

Published: July 23, 2013

Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations.

Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations.

Journal: American journal of medical genetics. Part A

Published: May 07, 2013

Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis.

Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis.

Journal: European journal of human genetics : EJHG

Published: November 29, 2012

Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome.

Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome.

Journal: European journal of medical genetics

Published: November 28, 2012

Showing 1-12 of 15

Last Updated: 09/26/2026