Pierre Bitoun

Pierre Bitoun

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Pierre Bitoun

Pierre Bitoun

Publications by authors named "Pierre Bitoun"

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

Mol Autism 2015 25;6:19. Epub 2015 Mar 25.

INSERM, UMR 1130, Neuroscience Paris Seine, 9 quai Saint Bernard, 75005 Paris, France ; CNRS, UMR 8246, Neuroscience Paris Seine, 9 quai Saint Bernard, 75005 Paris, France ; Sorbonne Universités, UPMC Univ Paris 6, Institut de Biologie Paris-Seine, 9 quai Saint Bernard, 75005 Paris, France.

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http://www.molecularautism.com/content/6/1/19
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http://dx.doi.org/10.1186/s13229-015-0015-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4384291PMC
April 2015

Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases.

Neurology 2014 Jun 7;82(22):1999-2002. Epub 2014 May 7.

From INSERM, U 975, and CNRS 7225-CRICM (A.M., C.D., O.T., D.B., I.L., M.V., A.B., E.R.), Département de Neurologie (A.M., M.V., E.R.), Fédération de Génétique, Département de Génétique et de Cytogénétique (C.D., A.B.), Banque d'ADN et de cellules (I.L.), Department of Biostatistics (J.-L.G.), and Centre d'Investigation Clinique Pitié Neurosciences 1422 (E.R.), Hôpital Pitié-Salpêtrière, AP-HP, Paris; Université Pierre et Marie Curie-Paris-6 (A.M., C.D., M.V., A.B., E.R.), UMR_S 975, Paris; Laboratoire de Génétique (F.R.), Groupe hospitalier Lariboisière-Fernand Widal, AP-HP, Paris; INSERM UMR_S740 (F.R.), Université Paris 7 Denis Diderot, Paris, France; Unit of Neurology (M.C., A.B.), Florence Health Authority, Italy; Génétique Médicale (P.B.), CHU Paris Nord, Hôpital Jean Verdier, Bondy, France; Department of Human Genetics (J.W.), University Medical Center Hamburg-Eppendorf, Hamburg, Germany; Institute of Neurogenetics (A.W.), University of Lübeck, Germany; Service de Neuropédiatrie (D.D.), Hôpital Trousseau, AP-HP, Paris, France; Unit of Neurology (M.R.), Villa Sofia-Cervello Hospital, Palermo; Department of Neuroscience (S.R.), Section of Neurology and Clinical Neurophysiology, Azienda Ospedaliera Universitaria of Siena, Italy; Neurologie et Pathologie du Mouvement (L.D.), Neurologie A, Hopital Salengro, Centre Hospitalier Universitaire, EA 1046, Lille, France; Pediatric Neurology and Metabolism (L.D.M.), Universitair Ziekenhuis Brussel, Belgium; James J. and Joan A. Gardner Family Center for Parkinson's disease and Movement Disorders (A.J.E.), University of Cincinnati Academic Health Center, Cincinnati, OH; IRCCS Fondazione Stella Maris (S.F.), Calambrone, Pisa, Italy; Department of Neurology (S.K.), University Hospital Würzburg, Germany; Service de Génétique Clinique (C.Q.), Hôpital Sud, Rennes, France; Institute for Human Genetics (S.R.-S.), Uniklinik RWTH Aachen, Germany; Service de Génétique (G.P.), CHU Clémenceau, Caen, F

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http://dx.doi.org/10.1212/WNL.0000000000000477DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4105259PMC
June 2014

Congenital macular dystrophy, corpus callosum agenesis, hippocampi hypoplasia--a novel neuro-ophthalmic syndrome: case report.

Ophthalmic Genet 2012 Mar 11;33(1):39-43. Epub 2011 Aug 11.

Génétique Médicale, Hôpital Jean Verdier AP-HP, C.H.U. Paris Nord, Bondy, France.

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http://dx.doi.org/10.3109/13816810.2011.596892DOI Listing
March 2012

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

Eur J Med Genet 2011 Mar-Apr;54(2):157-60. Epub 2010 Oct 29.

Service de Génétique Médicale: centre de référence anomalies du développement Grand-Est et centre de référence affections génétiques ophtalmologiques (CARGO), Hôpitaux Universitaires de Strasbourg, Strasbourg, France.

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http://dx.doi.org/10.1016/j.ejmg.2010.10.004DOI Listing
August 2011

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

Mol Vis 2010 Aug 22;16:1705-11. Epub 2010 Aug 22.

Department of Pediatric Ophthalmology, St Victor University Hospital of Amiens, INSERM UMRS968, Vision Institute, Paris VI University, Amiens, France.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2927439PMC
August 2010

CHD7 gene and non-syndromic cleft lip and palate.

Am J Med Genet A 2006 Oct;140(19):2110-4

Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA.

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http://dx.doi.org/10.1002/ajmg.a.31308DOI Listing
October 2006

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

Am J Hum Genet 2004 Jun 26;74(6):1276-81. Epub 2004 Apr 26.

Laboratory of Physiological Chemistry, Christian de Duve Institute of Cellular Pathology and Cliniques Universitaires Saint-Luc, Universite Catholique de Louvain, Brussels, Belgium.

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http://dx.doi.org/10.1086/421475DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1182092PMC
June 2004

ERGs in female carriers of incomplete congenital stationary night blindness (I-CSNB). A family report.

Doc Ophthalmol 2003 Sep;107(2):203-12

Université Paris 7, UFR Lariboisière-Saint-Louis, Unité INSERM U-483, Service de Biophysique, Département Vision, Paris, France.

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http://link.springer.com/content/pdf/10.1023/A:1026212318245
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http://dx.doi.org/10.1023/a:1026212318245DOI Listing
September 2003