Publications by authors named "Pierre Bitoun"

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Novel Intragenic and Genomic Variants Highlight the Phenotypic Variability in -Related Disease.
Linda M Reis, Donald Basel, Pierre Bitoun, David S Walton, Tom Glaser

Genes (Basel)· December 2024

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Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
Didier Lacombe, Agnès Bloch-Zupan, Cecilie Bredrup, Edward B Cooper, Sofia Douzgou Houge, Pierre Bitoun

J Med Genet· May 2024

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Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia.
Hildegard Nikki Hall, David Parry, Mihail Halachev, Kathleen A Williamson, Kevin Donnelly, Pierre Bitoun

J Med Genet· February 2024

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Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Maria Solaki, Britta Baumann, Peggy Reuter, Sten Andreasson, Isabelle Audo, Pierre Bitoun

Hum Mutat· July 2022

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Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma.
Marion Aubert-Mucca, Julie Pernin-Grandjean, Sébastien Marchasson, Veronique Gaston, Christophe Habib, Pierre Bitoun

Eur J Hum Genet· January 2021

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Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis.
Celia Zazo-Seco, Julie Plaisancié, Pierre Bitoun, Marta Corton, Ana Arteche

J Hum Genet· May 2020

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Expanding the phenotype of the X-linked BCOR microphthalmia syndromes.
Nicola Ragge, Bertrand Isidor, Pierre Bitoun, Sylvie Odent, Irina Giurgea

Hum Genet· September 2019

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The supplementary motor area modulates interhemispheric interactions during movement preparation.
Quentin Welniarz, Cécile Gallea, Jean-Charles Lamy, Aurélie Méneret, Traian Popa, Pierre Bitoun

Hum Brain Mapp· May 2019

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Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance.
Ashley P L Marsh, Delphine Heron, Timothy J Edwards, Angélique Quartier, Charles Galea, Pierre Bitoun

Nat Genet· April 2017

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Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.
Morad Ansari, Jacqueline Rainger, Isabel M Hanson, Kathleen A Williamson, Freddie Sharkey, Pierre Bitoun

PLoS One· February 2017

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Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment.
Myriam Srour, Véronique Caron, Toni Pearson, Sarah B Nielsen, Sébastien Lévesque, Pierre Bitoun

Hum Mutat· August 2016

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A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.
Meriel McEntagart, Kathleen A Williamson, Jacqueline K Rainger, Ann Wheeler, Anne Seawright, Pierre Bitoun

Am J Hum Genet· May 2016

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Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder.
Anne-Claude Tabet, Alain Verloes, Marion Pilorge, Elsa Delaby, Richard Delorme, Pierre Bitoun

Mol Autism· April 2015

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Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases.
Aurélie Méneret, Christel Depienne, Florence Riant, Oriane Trouillard, Delphine Bouteiller, Pierre Bitoun

Neurology· June 2014

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Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
Margaret J McMillin, Anita E Beck, Jessica X Chong, Kathryn M Shively, Kati J Buckingham, Pierre Bitoun

Am J Hum Genet· May 2014

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Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.
Myriam Srour, David Chitayat, Véronique Caron, Nicolas Chassaing, Pierre Bitoun

Am J Hum Genet· October 2013

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PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.
Christel Thauvin-Robinet, Martine Auclair, Laurence Duplomb, Martine Caron-Debarle, Magali Avila, Pierre Bitoun

Am J Hum Genet· July 2013

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Pre- and postnatal phenotype of 6p25 deletions involving the FOXC1 gene.
Andrée Delahaye, Suonavy Khung-Savatovsky, Azzedine Aboura, Fabien Guimiot, Séverine Drunat, Pierre Bitoun

Am J Med Genet A· October 2012

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Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies.
Andrée Delahaye, Pierre Bitoun, Séverine Drunat, Marion Gérard-Blanluet, Nicolas Chassaing

Eur J Hum Genet· May 2012

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Congenital macular dystrophy, corpus callosum agenesis, hippocampi hypoplasia--a novel neuro-ophthalmic syndrome: case report.
Pierre Bitoun, Eva Pipiras, Florence Rigaudiere

Ophthalmic Genet· March 2012

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Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.
Elise Schaefer, Myriam Durand, Corinne Stoetzel, Bérénice Doray, Brigitte Viville, Pierre Bitoun

Eur J Med Genet· August 2011

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Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia.
Dominique Brémond-Gignac, Pierre Bitoun, Linda M Reis, Henri Copin, Jeffrey C Murray

Mol Vis· August 2010

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Identification of CANT1 mutations in Desbuquois dysplasia.
Céline Huber, Bénédicte Oulès, Marta Bertoli, Mounia Chami, Mélanie Fradin, Pierre Bitoun

Am J Hum Genet· November 2009

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BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.
Emma Hilton, Jennifer Johnston, Sandra Whalen, Nobuhiko Okamoto, Yoshikazu Hatsukawa, Pierre Bitoun

Eur J Hum Genet· October 2009

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The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): report of eight cases including a living child and further evidence for autosomal recessive inheritance.
David Chitayat, Hana Sroka, Sarah Keating, Randall S Colby, Greg Ryan, Pierre Bitoun

Am J Med Genet A· June 2007

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