Philippe Jonveaux

Philippe Jonveaux

UNVERIFIED PROFILE

Are you Philippe Jonveaux?   Register this Author

Register author
Philippe Jonveaux

Philippe Jonveaux

Publications by authors named "Philippe Jonveaux"

Are you Philippe Jonveaux?   Register this Author

61Publications

2730Reads

8Profile Views

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:

View Article

Download full-text PDF

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

[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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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

View Article

Download full-text PDF

Source
http://hmg.oxfordjournals.org/content/early/2014/09/08/hmg.d
Web Search
http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddu461
Publisher Site
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.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.36662
Publisher Site
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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S000339950300076
Publisher Site
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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