P. Bitoun

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

R. Hennekam, J. Tolmie, G. Mortier, 2007, American Journal of Human Genetics.

Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort

M. Cossée, J. Mandel, A. Verloes, 2005, European Journal of Human Genetics.

The supplementary motor area modulates interhemispheric interactions during movement preparation

S. Lehéricy, S. Meunier, M. Vidailhet, 2019, Human brain mapping.

Genetic heterogeneity of Usher syndrome type 1 in French families.

J. Weissenbach, D. Bonneau, J. Dufier, 1994, Genomics.

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

C. Petit, F. Denoyelle, V. Drouin‐Garraud, 2006, European Journal of Human Genetics.

Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.

J. Mandel, A. Verloes, D. Bonneau, 2011, European journal of medical genetics.

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

E. Pipiras, P. Bitoun, F. Rigaudière, 2012, Ophthalmic genetics.

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

P. Sieving, S. Jacobson, R. Salati, 2022, Human mutation.

Identification of CANT1 mutations in Desbuquois dysplasia.

A. Munnich, S. Robertson, G. Mortier, 2009, American journal of human genetics.

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

L. Biesecker, J. Johnston, A. Verloes, 2009, European Journal of Human Genetics.

Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America

A. Ballabio, T. Meitinger, B. Lorenz, 2000, Human Genetics.

Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophy

P. Chinnery, P. Yu-Wai-Man, B. Wissinger, 2008, Journal of Medical Genetics.

Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins

J. Crolla, A. Verloes, C. Baumann, 2005, American journal of medical genetics. Part A.

Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes

A. Verloes, D. Lacombe, A. David, 1999, Journal of medical genetics.

Pre‐ and postnatal phenotype of 6p25 deletions involving the FOXC1 gene

P. Gressens, A. Verloes, J. Elion, 2012, American journal of medical genetics. Part A.

Wolfram syndrome. A report of four cases and review of the literature.

P. Bitoun, 1994, Ophthalmic genetics.

Congenital mirror movements

S. Rossi, L. Defebvre, M. Vidailhet, 2014, Neurology.

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Timothy J. Edwards, P. Lockhart, L. Richards, 2017, Nature Genetics.

Protein Secretion Machinery and Influenced by Components of the Actively Released via Membrane Vesicles , Upregulated during Growth in Biofilms , Streptococcus mutans Extracellular DNA

L., S. Ahn, R. Burne, 2014 .

Exclusion of epidermal growth factor and high-resolution physical mapping across the Rieger syndrome locus.

J. Carey, N. Datson, J. Murray, 1996, American journal of human genetics.

Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia

J. Murray, L. Reis, E. Semina, 2010, Molecular vision.

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

C. Fagour, P. Njølstad, J. Bernstein, 2016, Clinical genetics.

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

Jean Muller, O. Poch, N. Katsanis, 2010, Human Genetics.

Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome

J. Carey, N. Datson, J. Murray, 1996, Nature Genetics.

Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome

J. Clayton-Smith, B. Lorenz, I. Temple, 2016, PloS one.

A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD

R. Ferrell, J. Murray, W. Alward, 1998, Nature Genetics.

A new look at the management of the oculo-mandibulo-facial syndrome.

H. Trang, J. Timsit, P. Bitoun, 1992, Ophthalmic paediatrics and genetics.

Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma

P. Calvas, N. Chassaing, A. Verloes, 2020, European Journal of Human Genetics.

AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC.

M. Vincent, B. Héron, P. Bitoun, 2004, American journal of human genetics.

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

P. Sieving, S. Jacobson, R. Salati, 2005, European Journal of Human Genetics.

CNGA3 mutations in hereditary cone photoreceptor disorders.

S. Jacobson, R. Salati, L. Sharpe, 2001, American journal of human genetics.

Syddansk Universitet Genetic Analysis of ' PAX 6-Negative ' Individuals with Aniridia or Gillespie Syndrome

Stephen, Anthony, I.., 2016 .

A hereditary syndrome association of oculocutaneous albinism, dysmorphic features and short stature.

P. Bitoun, J. Morel-Charron, 1990, Ophthalmic paediatrics and genetics.

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

C. Petit, M. Mustapha, D. Weil, 1997, Human molecular genetics.

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

G. Mortier, D. Chitayat, A. Toi, 2007, American journal of medical genetics. Part A.

CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

J. W. Askew, W. Reardon, H. Kremer, 2002, American journal of human genetics.

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

Christopher Gillberg, Richard Delorme, Alain Verloes, 2015, Molecular Autism.

Glaucoma with a Larsen-like syndrome.

P. Bitoun, 1994, Ophthalmic genetics.

Somatic Mosaicism for Partial Paternal Isodisomy in Wiedemann-Beckwith Syndrome: A Post-Fertilization Event

C. Junien, P. Landrieu, M. Mannens, 1993, European journal of human genetics : EJHG.

PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.

Patrick Callier, Laurence Faivre, Christel Thauvin-Robinet, 2013, American journal of human genetics.

Gain‐of‐Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment

J. Rosenfeld, E. Roeder, F. Xia, 2016, Human mutation.

Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.

P. Calvas, N. Chassaing, D. Chitayat, 2013, American journal of human genetics.

Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS)

P. Sieving, A. Ballabio, T. Rosenberg, 1998 .

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

Marc S. Williams, J. Shendure, D. Nickerson, 2014, American journal of human genetics.

Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies

P. Gressens, A. Toutain, N. Chassaing, 2012, European Journal of Human Genetics.

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

Mark T. Handley, I. Temple, P. Clouston, 2016, American journal of human genetics.

Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis

P. Calvas, N. Chassaing, C. Gilissen, 2020, Journal of Human Genetics.

Möbius sequence, Robin complex, and hypotonia: Severe expression of brainstem disruption spectrum versus Carey–Fineman–Ziter syndrome

M. Patton, A. Toutain, A. Verloes, 2004, American journal of medical genetics. Part A.

Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes

A. Toutain, C. Wallgren‐Pettersson, J. Burn, 2002, European Journal of Human Genetics.

Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

P. Calvas, N. Chassaing, D. Bax, 2018, Human Genetics.

Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

W. Newman, P. Calvas, N. Chassaing, 2018, Human Genetics.

Genotype–phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions

S. Lyonnet, M. Vekemans, J. Andrieux, 2007, Journal of Medical Genetics.

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

S. Julia, A. Afenjar, A. Toutain, 2016, Clinical genetics.

Kabuki syndrome – Report of six cases and review of the literature with emphasis on ocular features

M. Warburg, A. Toutain, I. Kluijt, 2000, Ophthalmic genetics.

Blepharophimosis‐mental retardation (BMR) syndromes: A proposed clinical classification of the so‐called Ohdo syndrome, and delineation of two new BMR syndromes, one X‐linked and one autosomal recessive

Y. Gillerot, H. Brunner, A. Verloes, 2006, American journal of medical genetics. Part A.

Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases

C. Bole-Feysot, P. Nitschké, A. Gezdirici, 2017, Clinical genetics.

Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3

A. Munnich, D. Bacq, L. Faivre, 2003, Journal of medical genetics.

Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma

P. Calvas, N. Chassaing, A. Verloes, 2020, European Journal of Human Genetics.

The Wiedemann‐Rautenstrauch neonatal progeroid syndrome: a case report and review of the literature

S. Sauvion, N. Sellier, P. Bitoun, 1995, Clinical dysmorphology.

CHD7 gene and non‐syndromic cleft lip and palate

J. Murray, T. Félix, R. Mueller, 2006, American journal of medical genetics. Part A.

ERGs in female carriers of incomplete Congenital Stationary Night Blindness (I-CSNB) A family report

J. Le Gargasson, P. Bitoun, P. Lachapelle, 2003, Documenta Ophthalmologica.

Diffuse Severe Digestive Angiodysplasia in Bernard-Soulier Syndrome

L. Drouet, P. Bitoun, G. Tobelem, 1995, Thrombosis and Haemostasis.

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

S. Julia, A. Afenjar, A. Toutain, 2016, Clinical genetics.

Optic atrophy, microcephaly, mental retardation and mosaic variegated aneuploidy: a human mitotic mutation.

E. Tamboise, P. Bitoun, J. Gaudelus, 1994, Annales de genetique.

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

N. Katsanis, A. Mégarbané, N. Philip, 2010, Human Genetics.

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

L. Biesecker, J. Johnston, A. Verloes, 2009, European Journal of Human Genetics.

G. Mortier, R. Hennekam, G. Nürnberg, 2007, American journal of human genetics.

Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes

A. Verloes, D. Lacombe, A. David, 1999, Journal of medical genetics.

G. Mortier, D. Fitzpatrick, R. Hennekam, 2007, American journal of human genetics.