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List of works by Pierre Bitoun

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

scientific article published on 21 April 2016

A hereditary syndrome with retinopathy and ataxia or deafness in two consanguineous brothers ⬇️

scientific article published on 01 September 1991

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

scientific article

CHD7 gene and non-syndromic cleft lip and palate.

scientific article

Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management

scientific article

Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder

scientific article

Congenital Macular Dystrophy, Corpus Callosum Agenesis, Hippocampi Hypoplasia – A Novel Neuro-Ophthalmic Syndrome: Case Report ⬇️

scientific article published on August 11, 2011

Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey

scientific article

Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

scientific article published on 23 February 2010

Identification of CANT1 mutations in Desbuquois dysplasia

scientific article published on 22 October 2009

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

scientific article

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation

scientific article

PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy

scientific article published on 27 June 2013

Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene

scientific article

SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations

scientific article published in June 2006

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