Vincent Delorme

Prenatal diagnosis of metatropic dwarfism.

[Isolated bilateral dysplasia of the hip in children].

The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.

Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS).

Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients.

IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.

Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation.

Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.

What can we learn from old microdeletion syndromes using array-CGH screening?

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features.

Sensorineural hearing loss in OPA1-linked disorders.

Possible association between complex congenital heart defects and 11p15 hypomethylation in three patients with severe Silver-Russell syndrome.

Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.

Clinical and molecular spectrum of renal malformations in Kabuki syndrome.

New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.