Publications by authors named "Cherif Beldjord"

41Publications

Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency.

J Clin Endocrinol Metab 2016 12 7;101(12):4541-4550. Epub 2016 Sep 7.

Inserm 1185 (J.B., I.B., S.B., J.F., J.Y., N.B.), Le Kremlin-Bicêtre, Université Paris-Saclay, Faculté de Médecine Paris Sud, 94270 Le Kremlin-Bicêtre, France; Service de Biochimie et Génétique Moléculaire (K.A., C.B., C.D.), Hôpital Cochin, AP-HP, Université Paris-Descartes, 75004 Paris, France; Service d'Endocrinologie-Diabète-Nutrition (A.F., B.D.), CHU de Reims-Hôpital Robert-Debré, 51100 Reims, France; Institut Jacques Monod (A.L.T., R.A.V.), Université Paris Diderot-PARIS 7/CNRS UMR7592, 75013 Paris, France; and Service d'Endocrinologie et des Maladies de la Reproduction (J.Y.), APHP, Hôpital de Bicêtre, 94270 Le Kremlin-Bicêtre, France.

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http://dx.doi.org/10.1210/jc.2016-2152DOI Listing
December 2016

PINK1 and FLNA mutations association: A role for atypical parkinsonism?

Parkinsonism Relat Disord 2016 05 2;26:78-80. Epub 2016 Mar 2.

Département des Maladies du Système Nerveux, Centre Inter-Régional de Coordination de la Maladie de Parkinson, Hôpital Pitié-Salpêtrière, APHP, Paris, 75013, France; Université Pierre et Marie Curie-Paris 6, Laboratoire de Biologie du Développement, UMR 7622, Paris, 75005, France; Centre National de la Recherche Scientifique, Laboratoire de Biologie du Développement, UMR 7622 Paris, 75005, France.

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http://dx.doi.org/10.1016/j.parkreldis.2016.02.023DOI Listing
May 2016

Abnormal sodium current properties contribute to cardiac electrical and contractile dysfunction in a mouse model of myotonic dystrophy type 1.

Neuromuscul Disord 2015 Apr 10;25(4):308-20. Epub 2014 Dec 10.

INSERM UMRS-1166, Institute of Cardio-metabolism and nutrition (ICAN), Pierre and Marie Curie University, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2014.11.018DOI Listing
April 2015

New NOBOX mutations identified in a large cohort of women with primary ovarian insufficiency decrease KIT-L expression.

J Clin Endocrinol Metab 2015 Mar 16;100(3):994-1001. Epub 2014 Dec 16.

Inserm U693 (J.B., J.B., A.G.M., J.Y., N.B.), Le Kremlin-Bicêtre, F-94276, France; Université Paris-Sud (J.B., J.Y., N.B.), Faculté de Médecine Paris-Sud, Le Kremlin-Bicêtre, F-94276, France; Service d'Hormonologie, d'Endocrinologie Moléculaire et Des Maladies Rares (F.R.-B.), Centre De Biologie et Pathologie Est, Université Lyon 1, 69677 Bron, France; Unité de Gynécologie Endocrinienne (A.G.), Université Paris-Descartes, l'Assistance Publique-Hôpitaux de Paris, Hôpitaux Universitaires Paris Centre, 75014 Paris, France; l'Assistance Publique-Hôpitaux de Paris (H.B-G., J.Y., N.B.), Hôpital de Bicêtre, Service d'Endocrinologie et des Maladies de la Reproduction, Le Kremlin-Bicêtre, F-94276, France; Centre d'Aide Médicale à la Procréation (H.B-G.), CHI 94000 Créteil, France; Service de Biochimie et Génétique Moléculaire (K.A., C.B., C.D.), Hôpital Cochin, l'Assistance Publique-Hôpitaux de Paris Université Paris-Descartes, 75006 Paris, France; l'Assistance Publique-Hôpitaux de Paris (J.B., A.G.M.), Service de Génétique Moléculaire, Pharmacogénétique et Hormonologie, Le Kremlin-Bicêtre, F-94276, France; and Service d'Endocrinologie-Diabète-Nutrition (A.-C.H., B.D.), Centre Hospitalier Universitaire de Reims-Hôpital Robert-Debré, 51092 Reims, France.

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http://dx.doi.org/10.1210/jc.2014-2761DOI Listing
March 2015

Bilateral frontoparietal polymicrogyria.

Indian J Pediatr 2015 Apr 23;82(4):390-1. Epub 2014 Nov 23.

Division of Pediatric Neurology, Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India,

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http://dx.doi.org/10.1007/s12098-014-1614-1DOI Listing
April 2015

Brugada syndrome and abnormal splicing of SCN5A in myotonic dystrophy type 1.

Arch Cardiovasc Dis 2013 Dec 17;106(12):635-43. Epub 2013 Oct 17.

Service de cardiologie, université Paris-Descartes, hôpital Cochin, AP-HP, 27, rue du Faubourg-Saint-Jacques, 75014 Paris, France; Institut de myologie, université Pierre et Marie-Curie, hôpital Pitié-Salpêtrière, AP-HP, 75013 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.acvd.2013.08.003DOI Listing
December 2013

Deletion of filamin A in two female patients with periventricular nodular heterotopia.

Am J Med Genet A 2012 Jun 20;158A(6):1512-6. Epub 2012 Apr 20.

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.35409DOI Listing
June 2012

Evidence for tangential migration disturbances in human lissencephaly resulting from a defect in LIS1, DCX and ARX genes.

Acta Neuropathol 2010 Oct 12;120(4):503-15. Epub 2010 May 12.

Pathology Laboratory, Pole Pathologie-Biologie, Brest University Hospital, Brest, France.

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http://dx.doi.org/10.1007/s00401-010-0692-zDOI Listing
October 2010

[Molecular diagnosis of fragile X syndrome].

Tunis Med 2008 Nov;86(11):973-7

Service des maladies congénitales et héréditaires, EPS Charles Nicolle, Tunis, Tunisie.

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November 2008

Molecular heterogeneity of beta-thalassemia in Algeria: how to face up to a major health problem.

Hemoglobin 2009 ;33(1):24-36

Laboratoire de Biologie Cellulaire et Moléculaire, Faculté des Sciences Biologiques, Université des Sciences et de la Technologie Houari Boumediène, Alger, Algérie.

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http://dx.doi.org/10.1080/03630260802626061DOI Listing
April 2009

Detection of two rare beta-thalassemia alleles found in the Tunisian population: codon 47 (+A) and codons 106/107 (+G).

Hemoglobin 2006 ;30(4):437-47

Laboratory of Clinical Biochemistry and Molecular Biology, Hôpital d'Enfants, Place Bab Saadoun 1007, Tunis, Tunisia.

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http://dx.doi.org/10.1080/03630260600867933DOI Listing
October 2006

Genetics and pathophysiology of mental retardation.

Eur J Hum Genet 2006 Jun;14(6):701-13

Institut Cochin, Inserm-U567, CNRS-UMR 8104, Université Paris 5 René Descartes, Faculté de Médecine René Descartes, Paris, France.

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http://dx.doi.org/10.1038/sj.ejhg.5201595DOI Listing
June 2006

Human disorders of cortical development: from past to present.

Eur J Neurosci 2006 Feb;23(4):877-93

Institut Cochin, Département de Génétique et Développement, Paris, F-75014 France.

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http://dx.doi.org/10.1111/j.1460-9568.2006.04649.xDOI Listing
February 2006

Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons.

Brain Res Mol Brain Res 2004 Mar;122(1):35-46

Laboratoire de Génétique et de Physiopathologie des Retards Mentaux, Institut Cochin. Inserm U567, Université Paris V. 24, rue du Faubourg Saint Jacques, 75014 Paris, France.

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http://dx.doi.org/10.1016/j.molbrainres.2003.11.021DOI Listing
March 2004

Spectrum of MECP2 mutations in Rett syndrome.

Genet Test 2002 ;6(1):1-6

INSERM U129-ICGM, Faculté de Médecine Cochin, 75014 Paris, France.

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http://dx.doi.org/10.1089/109065702760093843DOI Listing
December 2002