Publications by authors named "Philippe Jonveaux"

63Publications

Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.

Am J Hum Genet 2016 Dec 23;99(6):1368-1376. Epub 2016 Nov 23.

Equipe d'Accueil 4271, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France; INSERM 1141, Service de Neurologie Pédiatrique, Hôpital Robert Debré, 75019 Paris, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, 21079 Dijon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.10.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5142104PMC
December 2016

GENESIS: a French national resource to study the missing heritability of breast cancer.

BMC Cancer 2016 Jan 12;16:13. Epub 2016 Jan 12.

Inserm, U900, Paris, France.

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http://dx.doi.org/10.1186/s12885-015-2028-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4711059PMC
January 2016

WWOX and severe autosomal recessive epileptic encephalopathy: first case in the prenatal period.

J Hum Genet 2015 May 26;60(5):267-71. Epub 2015 Feb 26.

Laboratoire de Génétique Médicale, Centre Hospitalier Universitaire de Nancy, INSERM U954, Université de Lorraine, Rue du Morvan, Vandoeuvre-les-Nancy, France.

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http://dx.doi.org/10.1038/jhg.2015.17DOI Listing
May 2015

Mutation of SLC9A1, encoding the major Na⁺/H⁺ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome.

Hum Mol Genet 2015 Jan 8;24(2):463-70. Epub 2014 Sep 8.

INSERM U827, Montpellier F-34000, France Université Montpellier I, Montpellier F-34000, France Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire (CHU) Montpellier, Montpellier F-34000, France Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U964/CNRS UMR7104/Université de Strasbourg, Illkirch, France

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http://hmg.oxfordjournals.org/content/early/2014/09/08/hmg.d
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddu461
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http://dx.doi.org/10.1093/hmg/ddu461DOI Listing
January 2015

Severe sex differentiation disorder in a boy with a 3.8 Mb 10q25.3-q26.12 microdeletion encompassing EMX2.

Am J Med Genet A 2014 Oct 26;164A(10):2618-22. Epub 2014 Jun 26.

Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France.

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http://doi.wiley.com/10.1002/ajmg.a.36662
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http://dx.doi.org/10.1002/ajmg.a.36662DOI Listing
October 2014

A new case of de novo 19p13.2p13.12 deletion in a girl with overgrowth and severe developmental delay.

Mol Cytogenet 2014 5;7:40. Epub 2014 Jun 5.

Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Morocco ; Centre de génomique humaine, Faculté de médecine et de pharmacie, Université Mohammed V, Rabat, Morocco.

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http://dx.doi.org/10.1186/1755-8166-7-40DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4068972PMC
June 2014

[An adult patient with 49, XXXXY syndrome: further clinical and biological delineation].

Ann Biol Clin (Paris) 2014 May-Jun;72(3):371-7

Laboratoire de génétique, Inserm U-954, Université de Lorraine, Centre Hospitalier de Nancy, Vandoeuvre les Nancy, France.

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http://www.john-libbey-eurotext.fr/medline.md?doi=10.1684/ab
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http://dx.doi.org/10.1684/abc.2014.0954DOI Listing
May 2016

De novo complex X chromosome rearrangement unmasking maternally inherited CSF2RA deletion in a girl with pulmonary alveolar proteinosis.

Am J Med Genet A 2013 Oct 5;161A(10):2594-9. Epub 2013 Aug 5.

Laboratoire de Génétique Médicale, Centre Hospitalier Universitaire de Nancy, Vandoeuvre-les-Nancy, France; Service de Médecine Infantile 3 et Génétique Clinique, Centre Hospitalier Universitaire de Nancy, Vandoeuvre-les-Nancy, France.

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http://dx.doi.org/10.1002/ajmg.a.36097DOI Listing
October 2013

Extended spectrum of MBD5 mutations in neurodevelopmental disorders.

Eur J Hum Genet 2013 Dec 20;21(12):1457-61. Epub 2013 Feb 20.

Laboratoire de Génétique, EA 4368, Université de Lorraine, Centre Hospitalier Universitaire de Nancy, Vandoeuvre les Nancy, France.

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http://www.nature.com/articles/ejhg201322
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http://dx.doi.org/10.1038/ejhg.2013.22DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3831065PMC
December 2013

RUNX1T1, a chromatin repression protein, is a candidate gene for autosomal dominant intellectual disability.

Am J Med Genet A 2012 Jul 29;158A(7):1782-4. Epub 2012 May 29.

Laboratoire de Génétique, EA4368, Nancy Université, CHU Nancy, France.

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http://dx.doi.org/10.1002/ajmg.a.35386DOI Listing
July 2012

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

Authors:
Sébastien Jacquemont Alexandre Reymond Flore Zufferey Louise Harewood Robin G Walters Zoltán Kutalik Danielle Martinet Yiping Shen Armand Valsesia Noam D Beckmann Gudmar Thorleifsson Marco Belfiore Sonia Bouquillon Dominique Campion Nicole de Leeuw Bert B A de Vries Tõnu Esko Bridget A Fernandez Fernando Fernández-Aranda José Manuel Fernández-Real Mònica Gratacòs Audrey Guilmatre Juliane Hoyer Marjo-Riitta Jarvelin R Frank Kooy Ants Kurg Cédric Le Caignec Katrin Männik Orah S Platt Damien Sanlaville Mieke M Van Haelst Sergi Villatoro Gomez Faida Walha Bai-Lin Wu Yongguo Yu Azzedine Aboura Marie-Claude Addor Yves Alembik Stylianos E Antonarakis Benoît Arveiler Magalie Barth Nathalie Bednarek Frédérique Béna Sven Bergmann Mylène Beri Laura Bernardini Bettina Blaumeiser Dominique Bonneau Armand Bottani Odile Boute Han G Brunner Dorothée Cailley Patrick Callier Jean Chiesa Jacqueline Chrast Lachlan Coin Charles Coutton Jean-Marie Cuisset Jean-Christophe Cuvellier Albert David Bénédicte de Freminville Bruno Delobel Marie-Ange Delrue Bénédicte Demeer Dominique Descamps Gérard Didelot Klaus Dieterich Vittoria Disciglio Martine Doco-Fenzy Séverine Drunat Bénédicte Duban-Bedu Christèle Dubourg Julia S El-Sayed Moustafa Paul Elliott Brigitte H W Faas Laurence Faivre Anne Faudet Florence Fellmann Alessandra Ferrarini Richard Fisher Elisabeth Flori Lukas Forer Dominique Gaillard Marion Gerard Christian Gieger Stefania Gimelli Giorgio Gimelli Hans J Grabe Agnès Guichet Olivier Guillin Anna-Liisa Hartikainen Délphine Heron Loyse Hippolyte Muriel Holder Georg Homuth Bertrand Isidor Sylvie Jaillard Zdenek Jaros Susana Jiménez-Murcia Géraldine Joly Helas Philippe Jonveaux Satu Kaksonen Boris Keren Anita Kloss-Brandstätter Nine V A M Knoers David A Koolen Peter M Kroisel Florian Kronenberg Audrey Labalme Emilie Landais Elisabetta Lapi Valérie Layet Solenn Legallic Bruno Leheup Barbara Leube Suzanne Lewis Josette Lucas Kay D MacDermot Pall Magnusson Christian Marshall Michèle Mathieu-Dramard Mark I McCarthy Thomas Meitinger Maria Antonietta Mencarelli Giuseppe Merla Alexandre Moerman Vincent Mooser Fanny Morice-Picard Mafalda Mucciolo Matthias Nauck Ndeye Coumba Ndiaye Ann Nordgren Laurent Pasquier Florence Petit Rolph Pfundt Ghislaine Plessis Evica Rajcan-Separovic Gian Paolo Ramelli Anita Rauch Roberto Ravazzolo Andre Reis Alessandra Renieri Cristobal Richart Janina S Ried Claudine Rieubland Wendy Roberts Katharina M Roetzer Caroline Rooryck Massimiliano Rossi Evald Saemundsen Véronique Satre Claudia Schurmann Engilbert Sigurdsson Dimitri J Stavropoulos Hreinn Stefansson Carola Tengström Unnur Thorsteinsdóttir Francisco J Tinahones Renaud Touraine Louis Vallée Ellen van Binsbergen Nathalie Van der Aa Catherine Vincent-Delorme Sophie Visvikis-Siest Peter Vollenweider Henry Völzke Anneke T Vulto-van Silfhout Gérard Waeber Carina Wallgren-Pettersson Robert M Witwicki Simon Zwolinksi Joris Andrieux Xavier Estivill James F Gusella Omar Gustafsson Andres Metspalu Stephen W Scherer Kari Stefansson Alexandra I F Blakemore Jacques S Beckmann Philippe Froguel

Nature 2011 Aug 31;478(7367):97-102. Epub 2011 Aug 31.

Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland.

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http://dx.doi.org/10.1038/nature10406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3637175PMC
August 2011

IgG deficiency and expansion of CTG repeats in myotonic dystrophy.

Clin Neurol Neurosurg 2011 Jul 3;113(6):464-8. Epub 2011 Mar 3.

Centre Hospitalier Universitaire de Nancy, Hôpitaux de Brabois, Vandoeuvre Cedex, France.

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http://dx.doi.org/10.1016/j.clineuro.2011.02.003DOI Listing
July 2011

Clinical and molecular characterization of a large family with an interstitial 15q11q13 duplication.

Am J Med Genet A 2010 Aug;152A(8):1933-41

Service de Médecine Infantile III et Génétique Clinique, Centre de référence Anomalies du développement et Syndromes malformatifs, Centre Hospitalier Universitaire de Nancy, Nancy-Université Henri Poincaré, Vandoeuvre les Nancy, France.

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http://dx.doi.org/10.1002/ajmg.a.33521DOI Listing
August 2010

Molecular characterization of a monosomy 1p36 presenting as an Aicardi syndrome phenocopy.

Am J Med Genet A 2009 Nov;149A(11):2493-500

Laboratoire de génétique humaine, EA 4002, IFR111, Faculté de médecine de Nancy, Nancy-Universite, Vandoeuvre-lès-Nancy, France.

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http://dx.doi.org/10.1002/ajmg.a.33051DOI Listing
November 2009

Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions.

Eur J Hum Genet 2008 Aug 14;16(8):1014-8. Epub 2008 May 14.

Laboratoire de Génétique, Centre Hospitalier Universitaire de Nancy Brabois, Nancy Université, EA4002, France.

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http://dx.doi.org/10.1038/ejhg.2008.89DOI Listing
August 2008

Screening of subtle copy number changes in Aicardi syndrome patients with a high resolution X chromosome array-CGH.

Eur J Med Genet 2007 Sep-Oct;50(5):386-91. Epub 2007 Jun 7.

Laboratoire de génétique, EA 4002-IFR111, Nancy-Université University Hospital (CHU) of Nancy-Brabois, Rue du Morvan, 54511 Vandoeuvre-les-Nancy, France.

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http://dx.doi.org/10.1016/j.ejmg.2007.05.006DOI Listing
November 2007

Tetrasomy 15q11-q13 diagnosed by FISH in a patient with autistic disorder.

J Biomed Biotechnol 2007 20;2007(3):61538. Epub 2007 Mar 20.

Département de génétique médicale, Institut National d'Hygiène, Rabat 11400, Morocco.

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http://dx.doi.org/10.1155/2007/61538DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1874673PMC
June 2010

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

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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http://dx.doi.org/10.1016/j.pediatrneurol.2005.10.013DOI Listing
May 2006

Characterization of mosaic supernumerary ring chromosomes by array-CGH: segmental aneusomy for proximal 4q in a child with tall stature and obesity.

Am J Med Genet A 2006 Feb;140(3):233-7

Laboratoire de Génétique EA 3441, Centre Hospitalier Universitaire de Nancy, Vandoeuvre les Nancy, France.

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http://dx.doi.org/10.1002/ajmg.a.31075DOI Listing
February 2006

Chromosome imbalances in oligodendroglial tumors detected by comparative genomic hybridization.

Ann Genet 2004 Apr-Jun;47(2):105-11

Laboratoire de Génétique-EA3441, CHU Nancy-Brabois, avenue du Morvan, 54111 Vandoeuvre les Nancy, France.

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http://linkinghub.elsevier.com/retrieve/pii/S000339950300076
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http://dx.doi.org/10.1016/j.anngen.2003.10.002DOI Listing
October 2005

MECP2 mutations or polymorphisms in mentally retarded boys: diagnostic implications.

Mol Diagn 2003 ;7(1):3-7

Laboratory of Medical Genetics, EA 3441, CHU-Brabois, Vandoeuvre-Lès Nancy, France.

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http://dx.doi.org/10.1007/BF03260014DOI Listing
September 2005

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

Rapid detection of common autosomal aneuploidies by quantitative fluorescent PCR on uncultured amniocytes.

Eur J Hum Genet 2002 Aug;10(8):462-6

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

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http://dx.doi.org/10.1038/sj.ejhg.5200833DOI Listing
August 2002