Thierry Bienvenu

Thierry Bienvenu

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Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 Aug;21(8):1897-1898

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0327-7DOI Listing
August 2019

Gene mutations in paediatric epilepsies cause NMDA-pathy, and phasic and tonic GABA-pathy.

Dev Med Child Neurol 2019 Aug 25;61(8):891-898. Epub 2019 Jan 25.

Inserm U1129, Infantile Epilepsies and Brain Plasticity, CEA Gif/Yvette, Pôle de Recherche et d'Enseignement Supérieur Sorbonne Paris Cité, Paris Descartes University, Paris, France.

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http://doi.wiley.com/10.1111/dmcn.14152
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http://dx.doi.org/10.1111/dmcn.14152DOI Listing
August 2019

Anorexia nervosa is associated with Neuronatin variants.

Psychiatr Genet 2019 08;29(4):103-110

Clinique des maladies mentales et de l'encéphale, Hôpital Sainte-Anne, Université Paris-Descartes.

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http://dx.doi.org/10.1097/YPG.0000000000000224DOI Listing
August 2019

Exome sequencing in a familial form of anorexia nervosa supports multigenic etiology.

J Neural Transm (Vienna) 2019 Aug 6. Epub 2019 Aug 6.

Institut de Psychiatrie et de Neurosciences de Paris (IPNP), Inserm U1266, 102 rue de la Santé, 75014, Paris, France.

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http://dx.doi.org/10.1007/s00702-019-02056-2DOI Listing
August 2019

Pitfalls in the interpretation of CFTR variants in the context of incidental findings.

Hum Mutat 2019 Jul 27. Epub 2019 Jul 27.

Laboratoire de Génétique et Biologie Moléculaires, AP-HP, Hôpital Cochin, HUPC, Paris, France.

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http://dx.doi.org/10.1002/humu.23884DOI Listing
July 2019

New insights in phenomenology and treatment of epilepsy in CDKL5 encephalopathy.

Epilepsy Behav 2019 May 18;94:308-311. Epub 2019 Mar 18.

AdPueriVitam, Antony, France; Service d'explorations fonctionnelles, Antoine Béclère Hospital, AP-HP, Clamart, France; Department of Pediatrics, André Grégoire Hospital, Centre Hospitalier Intercommunal de Montreuil, Montreuil, France.

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https://linkinghub.elsevier.com/retrieve/pii/S15255050183082
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http://dx.doi.org/10.1016/j.yebeh.2019.02.013DOI Listing
May 2019

Rheumatoid arthritis-associated bronchiectasis.

Lancet 2019 05;393(10185):2035-2036

Cochin Hospital, University Paris Descartes, Assistance Publique - Hôpitaux de Paris, 75014 Paris, France.

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http://dx.doi.org/10.1016/S0140-6736(19)30020-0DOI Listing
May 2019

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 04 12;21(4):837-849. Epub 2018 Sep 12.

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0268-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752297PMC
April 2019

Novel KDM5B splice variants identified in patients with developmental disorders: Functional consequences.

Gene 2018 Dec 12;679:305-313. Epub 2018 Sep 12.

Inserm, U1016, Institut Cochin, Paris, France; Université Paris Descartes, Sorbonne Paris Cité, Paris, France; CNRS, UMR8104, Paris, France; Institut de Psychiatrie et de Neurosciences de Paris, 102 rue de la santé, 75014 Paris, France; Laboratoire de Génétique et Biologie Moléculaires, Hôpital Cochin, HUPC, AP-HP, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2018.09.016DOI Listing
December 2018

Further delineation of the duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.

Authors:
Marguerite Miguet Laurence Faivre Jeanne Amiel Mathilde Nizon Renaud Touraine Fabienne Prieur Laurent Pasquier Mathilde Lefebvre Julien Thevenon Christèle Dubourg Sophie Julia Catherine Sarret Ganaëlle Remerand Christine Francannet Fanny Laffargue Odile Boespflug-Tanguy Albert David Bertrand Isidor Jacqueline Vigneron Bruno Leheup Laetitia Lambert Christophe Philippe Mylène Béri-Dexheimer Jean-Marie Cuisset Joris Andrieux Ghislaine Plessis Annick Toutain Laurent Guibaud Valérie Cormier-Daire Marlene Rio Jean-Paul Bonnefont Bernard Echenne Hubert Journel Lydie Burglen Sandrine Chantot-Bastaraud Thierry Bienvenu Clarisse Baumann Laurence Perrin Séverine Drunat Pierre-Simon Jouk Klaus Dieterich Françoise Devillard Didier Lacombe Nicole Philip Sabine Sigaudy Anne Moncla Chantal Missirian Catherine Badens Nathalie Perreton Christel Thauvin-Robinet Réseau AChro-Puce Jean-Michel Pedespan Caroline Rooryck Cyril Goizet Catherine Vincent-Delorme Bénédicte Duban-Bedu Nadia Bahi-Buisson Alexandra Afenjar Kim Maincent Delphine Héron Jean-Luc Alessandri Dominique Martin-Coignard Gaëtan Lesca Massimiliano Rossi Martine Raynaud Patrick Callier Anne-Laure Mosca-Boidron Nathalie Marle Charles Coutton Véronique Satre Cédric Le Caignec Valérie Malan Serge Romana Boris Keren Anne-Claude Tabet Valérie Kremer Sophie Scheidecker Adeline Vigouroux Marilyn Lackmy-Port-Lis Damien Sanlaville Marianne Till Maryline Carneiro Brigitte Gilbert-Dussardier Marjolaine Willems Hilde Van Esch Vincent Des Portes Salima El Chehadeh

J Med Genet 2018 Jun 4;55(6):359-371. Epub 2018 Apr 4.

Service de génétique médicale, Institut de Génétique Médicale d'Alsace (IGMA), Centre de Référence Maladies Rares "Anomalies du développement et syndromes malformatifs", Centre de Référence Maladies Rares "Des déficiences intellectuelles de causes rares", Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Strasbourg, France.

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http://dx.doi.org/10.1136/jmedgenet-2017-104956DOI Listing
June 2018

Isolated Nonvisualization of the Fetal Gallbladder Should Be Considered for the Prenatal Diagnosis of Cystic Fibrosis.

Fetal Diagn Ther 2019 19;45(5):312-316. Epub 2018 Jun 19.

Laboratoire de Génétique et Biologie Moléculaires, Hôpital Cochin, HUPC, AP-HP, Paris, France.

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http://dx.doi.org/10.1159/000489120DOI Listing
June 2018

DMD and West syndrome.

Neuromuscul Disord 2017 Oct 19;27(10):911-913. Epub 2017 Jul 19.

I-Motion, Platform for Pediatric Clinical Trials, Arnold Trousseau Hospital, Paris, France; Neuromuscular Center, CHU of Liège, Liège, Belgium. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09608966173009
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http://dx.doi.org/10.1016/j.nmd.2017.07.008DOI Listing
October 2017

CFTR and/or pancreatitis susceptibility genes mutations as risk factors of pancreatitis in cystic fibrosis patients?

Pancreatology 2016 Jul-Aug;16(4):515-22. Epub 2016 Apr 5.

AP-HP, Laboratoire de Génétique et Biologie Moléculaires, HU Paris Centre, Site Cochin, France; Université Paris Descartes Paris, Institut Cochin, INSERM U1016, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.pan.2016.03.021DOI Listing
March 2017

ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.

Brain 2016 11;139(11):e64

Assistance Publique-Hôpitaux de Paris, Département de Génétique and Centre de Référence Déficiences Intellectuelles de Causes Rares and GRC UPMC "Déficiences Intellectuelles et Autisme", Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1093/brain/aww181DOI Listing
November 2016

DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis.

Clin Respir J 2016 Nov 15;10(6):777-783. Epub 2015 Apr 15.

AP-HP, Laboratoire de Biochimie et Génétique Moléculaire, Groupe Universitaire Paris Centre, Paris, France.

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http://doi.wiley.com/10.1111/crj.12288
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http://dx.doi.org/10.1111/crj.12288DOI Listing
November 2016

Turkish cases of early infantile epileptic encephalopathy: two novel mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene.

Turk J Pediatr 2015 May-Jun;57(3):272-6

Division of Child Neurology, Department of Pediatrics, Ege University Faculty of Medicine, Izmir, Turkey.

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August 2016

Altered microtubule dynamics and vesicular transport in mouse and human MeCP2-deficient astrocytes.

Hum Mol Genet 2016 Jan 24;25(1):146-57. Epub 2015 Nov 24.

Inserm, U1016, Institut Cochin, Paris, France, Cnrs, UMR8104, Paris, France, Université Paris Descartes, Sorbonne Paris Cité, Paris, France, Laboratoire de Biologie et Génétique Moléculaires, HUPC, Hôpital Cochin, Paris, France,

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http://dx.doi.org/10.1093/hmg/ddv464DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4690499PMC
January 2016

Astrocyte Transcriptome from the Mecp2(308)-Truncated Mouse Model of Rett Syndrome.

Neuromolecular Med 2015 Dec 25;17(4):353-63. Epub 2015 Jul 25.

Inserm, U1016, Faculté de Médecine, Laboratoire de Génétique et de Physiopathologie des Maladies Mentales, Institut Cochin, 24 Rue du Faubourg Saint Jacques, 75014, Paris, France.

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http://dx.doi.org/10.1007/s12017-015-8363-9DOI Listing
December 2015

Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.

Am J Med Genet A 2015 Dec 11;167A(12):3076-81. Epub 2015 Sep 11.

Inserm, Institut Cochin, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.37364DOI Listing
December 2015

[Interest of Droplet digital PCR in non-invasive prenatal testing].

Ann Biol Clin (Paris) 2015 Nov;73 Suppl 1:22-3

Service de biochimie et génétique moléculaire, HUPC Hôpital Cochin, Paris, France, Inserm U1016, Institut Cochin, Paris, France.

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http://dx.doi.org/10.1684/abc.2015.1084DOI Listing
November 2015

Poor survival in rheumatoid arthritis associated with bronchiectasis: a family-based cohort study.

PLoS One 2014 13;9(10):e110066. Epub 2014 Oct 13.

Department of Respiratory Diseases, Hôpital Cochin, Assistance Publique-Hôpitaux de Paris, Université Paris Descartes, Paris, France.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0110066PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4195708PMC
September 2015

The hsa-miR-125a/hsa-let-7e/hsa-miR-99b cluster is potentially implicated in Cystic Fibrosis pathogenesis.

J Cyst Fibros 2015 Sep 21;14(5):571-9. Epub 2015 Mar 21.

CNRS, UMR 5547, Université de Toulouse, 118 route de Narbonne, 31062 Toulouse Cedex 09, France.

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http://dx.doi.org/10.1016/j.jcf.2015.02.011DOI Listing
September 2015

Differential Expression and Regulation of Brain-Derived Neurotrophic Factor (BDNF) mRNA Isoforms in Brain Cells from Mecp2(308/y) Mouse Model.

J Mol Neurosci 2015 Aug 30;56(4):758-767. Epub 2015 Jan 30.

Institut Cochin, INSERM U1016, Génétique, Physiopathologie et Approches Pharmacologiques des Maladies Neurodéveloppementales, Université Paris Descartes, Paris, France.

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http://link.springer.com/10.1007/s12031-014-0487-0
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http://dx.doi.org/10.1007/s12031-014-0487-0DOI Listing
August 2015

The p.Gly622Asp (G622D) mutation, frequently found in Reunion Island and in black populations, is associated with a wide spectrum of CF and CFTR-RD phenotypes.

J Cyst Fibros 2015 May 28;14(3):305-9. Epub 2014 Nov 28.

AP-HP, Laboratoire de Biochimie et Génétique Moléculaire, GH Cochin-Broca-Hôtel Dieu, Paris, France; Université Paris Descartes Paris, Institut Cochin, INSERM U1016, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.jcf.2014.11.001DOI Listing
May 2015

A case of Lennox-Gastaut syndrome in a patient with FOXG1-related disorder.

Epilepsia 2014 Nov 29;55(11):e116-9. Epub 2014 Sep 29.

AP-HP, Pediatric Neurology Department, Hospital Robert Debré, Paris, France; Inserm, U1141, Paris, France; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.

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http://dx.doi.org/10.1111/epi.12800DOI Listing
November 2014

p.Arg75Gln, a CFTR variant involved in the risk of CFTR-related disorders?

J Hum Genet 2014 Apr 23;59(4):206-10. Epub 2014 Jan 23.

1] Laboratoire de Biochimie et Génétique Moléculaire, GH Cochin-Broca-Hôtel Dieu, AP-HP, Paris, France [2] Institut Cochin, INSERM U1016, Université Paris Descartes Paris, Paris, France.

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http://www.nature.com/articles/jhg20142
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http://dx.doi.org/10.1038/jhg.2014.2DOI Listing
April 2014

Mutations in the C-terminus of CDKL5: proceed with caution.

Eur J Hum Genet 2014 Feb 12;22(2):270-2. Epub 2013 Jun 12.

1] Laboratoire de Biochimie et Génétique Moléculaire, Hôpital Cochin, Assistance Publique - Hôpitaux de Paris, Paris, France [2] Inserm, U1016, Paris, France [3] Institut Cochin, Université Paris Descartes, Sorbonne Paris Cité, CNRS (UMR 8104), Paris, France.

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http://dx.doi.org/10.1038/ejhg.2013.133DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3895649PMC
February 2014

Characterization of SLC26A9 in patients with CF-like lung disease.

Hum Mutat 2013 Oct 13;34(10):1404-14. Epub 2013 Aug 13.

INSERM U 845, Paris, France; Faculté de Médecine, Université René Descartes, Paris V, Paris, France.

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http://dx.doi.org/10.1002/humu.22382DOI Listing
October 2013

Refining the phenotype associated with MEF2C point mutations.

Neurogenetics 2013 Feb 23;14(1):71-5. Epub 2012 Sep 23.

CNRS UMR 8104, Institut Cochin, Laboratoire de Génétique des Maladies Neurodéveloppementales, Université Paris Descartes, Paris, France.

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http://dx.doi.org/10.1007/s10048-012-0344-7DOI Listing
February 2013

MeCP2 deficiency is associated with impaired microtubule stability.

FEBS Lett 2013 Jan 10;587(2):245-53. Epub 2012 Dec 10.

Université Paris Descartes, CNRS UMR 8104, Institut Cochin, Laboratoire de Génétique des Maladies Neurodéveloppementales, Paris, France.

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http://dx.doi.org/10.1016/j.febslet.2012.11.033DOI Listing
January 2013

CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomes.

Hum Mutat 2012 Nov 2;33(11):1557-65. Epub 2012 Jul 2.

Institut de Physiologie et Biologie Cellulaires, Centre National de la Recherche Scientifique Formation de Recherche en Evolution FRE 3511, Université de Poitiers, Poitiers, France.

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http://dx.doi.org/10.1002/humu.22129DOI Listing
November 2012

Altered microtubule dynamics in Mecp2-deficient astrocytes.

J Neurosci Res 2012 May 18;90(5):990-8. Epub 2012 Jan 18.

Université Paris Descartes, CNRS UMR 8104, Institut Cochin, Laboratoire de Génétique des Maladies Neurodéveloppementales, Paris, France.

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http://dx.doi.org/10.1002/jnr.23001DOI Listing
May 2012

Pancreas divisum is not a cause of pancreatitis by itself but acts as a partner of genetic mutations.

Am J Gastroenterol 2012 Feb 13;107(2):311-7. Epub 2011 Dec 13.

Pôle Biologie Imagerie Pathologie Pharmacie, Service de Radiologie générale, Hôpital Beaujon, AP-HP, Université Paris VII-Denis Diderot, Clichy, France.

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http://dx.doi.org/10.1038/ajg.2011.424DOI Listing
February 2012

Brain-derived neurotrophic factor, food intake regulation, and obesity.

Arch Med Res 2011 Aug 22;42(6):482-94. Epub 2011 Sep 22.

Unidad de Investigación Médica en Genética Humana, Hospital de Pediatría, Centro Médico Nacional Siglo XXI, Instituto Mexicano del Seguro Social, México, D.F., Mexico.

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http://linkinghub.elsevier.com/retrieve/pii/S018844091100198
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http://dx.doi.org/10.1016/j.arcmed.2011.09.005DOI Listing
August 2011

Mutations of the cystic fibrosis gene in patients with bronchiectasis associated with rheumatoid arthritis.

Ann Rheum Dis 2011 Apr 3;70(4):653-9. Epub 2010 Dec 3.

Center for Rare Systemic Auto-immune Diseases, Department of Rheumatology, Centre Hospitalier du Mans, 194 avenue Rubillard, 72000 Le Mans, France.

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http://ard.bmj.com/content/70/4/653.full.pdf
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http://ard.bmj.com/cgi/doi/10.1136/ard.2010.142760
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http://dx.doi.org/10.1136/ard.2010.142760DOI Listing
April 2011

A FOXG1 mutation in a boy with congenital variant of Rett syndrome.

Neurogenetics 2011 Feb 24;12(1):1-8. Epub 2010 Aug 24.

Institut Cochin, Inserm U1016, UMR8104, Université Paris Descartes, 24 rue du Faubourg St Jacques, 75014, Paris, France.

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http://dx.doi.org/10.1007/s10048-010-0255-4DOI Listing
February 2011

CFTR gene mutation in patients with apparently idiopathic pancreatitis: lack of phenotype-genotype correlation.

Pancreatology 2010 12;10(2-3):158-64. Epub 2010 May 12.

Pôle des Maladies de l'Appareil Digestif, Service de Gastroentérologie-Pancréatologie, Hôpital Beaujon, AP-HP, Clichy, France.

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http://linkinghub.elsevier.com/retrieve/pii/S142439031080073
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http://dx.doi.org/10.1159/000231976DOI Listing
September 2010

Somatic mosaicism for a CDKL5 mutation as an epileptic encephalopathy in males.

Am J Med Genet A 2010 Aug;152A(8):2110-1

Laboratoire de Biochimie et Biologie Moléculaire, AP-HP, Hôpital Cochin, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.33037DOI Listing
August 2010

Synaptic maturation at cortical projections to the lateral amygdala in a mouse model of Rett syndrome.

PLoS One 2010 Jul 2;5(7):e11399. Epub 2010 Jul 2.

Institut des Neurosciences Cellulaires et Intégratives, CNRS UPR 3212 et Université de Strasbourg, Strasbourg, France.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0011399PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2896423PMC
July 2010

Cystic fibrosis transmembrane conductance regulator channel dysfunction in non-cystic fibrosis bronchiectasis.

Am J Respir Crit Care Med 2010 May 18;181(10):1078-84. Epub 2010 Feb 18.

Service d'Explorations Fonctionnelles, Hôpital Cochin, 27 rue du Faubourg St-Jacques, Paris, France.

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http://dx.doi.org/10.1164/rccm.200909-1434OCDOI Listing
May 2010

Clinical data and parenthood of 63 infertile and Y-microdeleted men.

Fertil Steril 2010 Feb 4;93(3):822-32. Epub 2008 Dec 4.

Assistance Publique - Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1016/j.fertnstert.2008.10.033DOI Listing
February 2010

Epileptic encephalopathy in a girl with an interstitial deletion of Xp22 comprising promoter and exon 1 of the CDKL5 gene.

Am J Med Genet B Neuropsychiatr Genet 2010 Jan;153B(1):202-7

Service de Neurologie Pédiatrique, Département de Pédiatrie, Hôpital Necker Enfants Malades, AP-HP, Paris, France.

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http://dx.doi.org/10.1002/ajmg.b.30974DOI Listing
January 2010

CDKL5 influences RNA splicing activity by its association to the nuclear speckle molecular machinery.

Hum Mol Genet 2009 Dec 9;18(23):4590-602. Epub 2009 Sep 9.

Division of Neuroscience, San Raffaele Rett Research Center, San Raffaele Scientific Institute, Milan 20132, Italy.

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http://dx.doi.org/10.1093/hmg/ddp426DOI Listing
December 2009

The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform.

Neurogenetics 2009 Apr 26;10(2):127-33. Epub 2008 Nov 26.

Institut Cochin, Université Paris Descartes, CNRS (UMR 8104), Paris, France.

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http://dx.doi.org/10.1007/s10048-008-0161-1DOI Listing
April 2009

A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features.

Eur J Hum Genet 2008 Nov 4;16(11):1358-63. Epub 2008 Jun 4.

Maladies Hereditaires et Congenitales, Service des Maladies Héréditaires et Congénitales, Hôpital Charles Nicole, Tunis, Tunisia.

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http://dx.doi.org/10.1038/ejhg.2008.103DOI Listing
November 2008

Could a defective epithelial sodium channel lead to bronchiectasis.

Respir Res 2008 May 28;9:46. Epub 2008 May 28.

Service d'Explorations Fonctionnelles, AP-HP, Hôpital Cochin, Paris, France.

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http://dx.doi.org/10.1186/1465-9921-9-46DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2435537PMC
May 2008

ENaCbeta and gamma genes as modifier genes in cystic fibrosis.

J Cyst Fibros 2008 Jan 7;7(1):23-9. Epub 2007 Jun 7.

Laboratoire de Biochimie et Génétique Moléculaires, Hôpital Cochin (AP-HP), 123 boulevard de Port Royal, 75014, Paris, France.

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http://dx.doi.org/10.1016/j.jcf.2007.04.003DOI Listing
January 2008

Netrin G1 mutations are an uncommon cause of atypical Rett syndrome with or without epilepsy.

Pediatr Neurol 2007 Oct;37(4):270-4

Assistance Publique-Hopitaux de Paris, Laboratoire de Biochimie et Génétique Moléculaires, Hôpital Cochin, France.

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http://dx.doi.org/10.1016/j.pediatrneurol.2007.06.002DOI Listing
October 2007

Deleterious mutations in exon 1 of MECP2 in Rett syndrome.

Eur J Med Genet 2006 Jul-Aug;49(4):313-22. Epub 2005 Dec 20.

Laboratoire de Génétique, EA 3441, CHU Brabois, avenue du Morvan, 54511 Vandoeuvre-les-Nancy cedex, France.

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http://dx.doi.org/10.1016/j.ejmg.2005.11.002DOI Listing
September 2006

Molecular genetics of Rett syndrome: when DNA methylation goes unrecognized.

Nat Rev Genet 2006 Jun;7(6):415-26

Institut Cochin, Départment de Génétique et Developpement, Paris, F-75014 France.

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http://www.nature.com/articles/nrg1878
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http://dx.doi.org/10.1038/nrg1878DOI Listing
June 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

Results of assisted reproductive technique in men with cystic fibrosis.

Hum Reprod 2006 May 23;21(5):1232-6. Epub 2006 Jan 23.

Centre de Ressources et de Compétences pour la Mucoviscidose - Service de Pneumologie, Paris, France.

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http://dx.doi.org/10.1093/humrep/dei453DOI Listing
May 2006

The incidence of Rett syndrome in France.

Pediatr Neurol 2006 May;34(5):372-5

University Paris 5, Cochin Institute, INSERM U567, Centre National de la Recherche Scientifique/Unitré Mixte de Reserche 8104, Paris, France.

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May 2006

Calpain 10 and development of diabetes mellitus in cystic fibrosis.

J Cyst Fibros 2006 Jan 27;5(1):47-51. Epub 2005 Dec 27.

Laboratoire de Biochimie et Génétique Moléculaire and Université René Descartes Paris 5, Institut Cochin, INSERM U567, GDPM, Paris, France.

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January 2006