Christele Dubourg

Christele Dubourg

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Christele Dubourg

Publications by authors named "Christele Dubourg"

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Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

Genet Med 2019 Oct 3. Epub 2019 Oct 3.

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

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http://dx.doi.org/10.1038/s41436-019-0657-0DOI Listing
October 2019

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

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

Am J Hum Genet 2019 Jun 9;104(6):1210-1222. Epub 2019 May 9.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556837PMC
June 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

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

Recent advances in understanding inheritance of holoprosencephaly.

Am J Med Genet C Semin Med Genet 2018 06 22;178(2):258-269. Epub 2018 May 22.

Univ Rennes, CNRS, IGDR (Institut de génétique et développement de Rennes) - UMR 6290, F - 35000, Rennes, France.

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http://dx.doi.org/10.1002/ajmg.c.31619DOI Listing
June 2018

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

Am J Hum Genet 2018 05 12;102(5):744-759. Epub 2018 Apr 12.

Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.02.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986661PMC
May 2018

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Authors:
Sébastien Küry Geeske M van Woerden Thomas Besnard Martina Proietti Onori Xénia Latypova Meghan C Towne Megan T Cho Trine E Prescott Melissa A Ploeg Stephan Sanders Holly A F Stessman Aurora Pujol Ben Distel Laurie A Robak Jonathan A Bernstein Anne-Sophie Denommé-Pichon Gaëtan Lesca Elizabeth A Sellars Jonathan Berg Wilfrid Carré Øyvind Løvold Busk Bregje W M van Bon Jeff L Waugh Matthew Deardorff George E Hoganson Katherine B Bosanko Diana S Johnson Tabib Dabir Øystein Lunde Holla Ajoy Sarkar Kristian Tveten Julitta de Bellescize Geir J Braathen Paulien A Terhal Dorothy K Grange Arie van Haeringen Christina Lam Ghayda Mirzaa Jennifer Burton Elizabeth J Bhoj Jessica Douglas Avni B Santani Addie I Nesbitt Katherine L Helbig Marisa V Andrews Amber Begtrup Sha Tang Koen L I van Gassen Jane Juusola Kimberly Foss Gregory M Enns Ute Moog Katrin Hinderhofer Nagarajan Paramasivam Sharyn Lincoln Brandon H Kusako Pierre Lindenbaum Eric Charpentier Catherine B Nowak Elouan Cherot Thomas Simonet Claudia A L Ruivenkamp Sihoun Hahn Catherine A Brownstein Fan Xia Sébastien Schmitt Wallid Deb Dominique Bonneau Mathilde Nizon Delphine Quinquis Jamel Chelly Gabrielle Rudolf Damien Sanlaville Philippe Parent Brigitte Gilbert-Dussardier Annick Toutain Vernon R Sutton Jenny Thies Lisenka E L M Peart-Vissers Pierre Boisseau Marie Vincent Andreas M Grabrucker Christèle Dubourg Wen-Hann Tan Nienke E Verbeek Martin Granzow Gijs W E Santen Jay Shendure Bertrand Isidor Laurent Pasquier Richard Redon Yaping Yang Matthew W State Tjitske Kleefstra Benjamin Cogné Slavé Petrovski Kyle Retterer Evan E Eichler Jill A Rosenfeld Pankaj B Agrawal Stéphane Bézieau Sylvie Odent Ype Elgersma Sandra Mercier

Am J Hum Genet 2017 Nov;101(5):768-788

CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.

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http://dx.doi.org/10.1016/j.ajhg.2017.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673671PMC
November 2017

[From cyclops to reality: a fresh look at the genetics of holoprosencephaly].

Med Sci (Paris) 2017 Nov 4;33(11):924-926. Epub 2017 Dec 4.

UMR 6290 CNRS, institut de génétique et développement de Rennes, université de Rennes1, France - Service de génétique moléculaire et génomique, CHU Pontchaillou, 2, rue Henri Le Guilloux, 35033 Rennes, France.

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http://dx.doi.org/10.1051/medsci/20173311003DOI Listing
November 2017

Homozygous STIL mutation causes holoprosencephaly and microcephaly in two siblings.

PLoS One 2015 6;10(2):e0117418. Epub 2015 Feb 6.

Institut de Génétique et Développement de Rennes, Equipe Génétique des Pathologies Liées au Développement, Faculté de Médecine, Université de Rennes 1, 35043 Rennes, France; Laboratoire de Génétique Moléculaire et Génomique, CHU Pontchaillou, 35033 Rennes, France.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0117418PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4319975PMC
February 2016

Novel genes upregulated when NOTCH signalling is disrupted during hypothalamic development.

Neural Dev 2013 Dec 23;8:25. Epub 2013 Dec 23.

Institut de Génétique et Développement de Rennes, CNRS UMR6290, Université de Rennes 1, IFR140 GFAS, Faculté de Médecine, Rennes, France.

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http://dx.doi.org/10.1186/1749-8104-8-25DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3880542PMC
December 2013

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

NOTCH, a new signaling pathway implicated in holoprosencephaly.

Hum Mol Genet 2011 Mar 31;20(6):1122-31. Epub 2010 Dec 31.

Institut de Génétique et Développement, CNRS UMR6061, Université de Rennes 1, IFR140 GFAS, Faculté de Médecine, Rennes, France.

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http://dx.doi.org/10.1093/hmg/ddq556DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3390777PMC
March 2011

Clinical utility gene card for: Holoprosencephaly.

Eur J Hum Genet 2011 Jan 21;19(1):preceeding 118-20. Epub 2010 Jul 21.

Génétique Moléculaire, UMR 6061 CNRS IGDR, CHU Pontchaillou,University of Rennes, Rennes, France.

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http://dx.doi.org/10.1038/ejhg.2010.110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3039493PMC
January 2011

Holoprosencephaly: An update on cytogenetic abnormalities.

Am J Med Genet C Semin Med Genet 2010 Feb;154C(1):86-92

Institut National de la Santé et de la Recherche Médicale, Rennes, France.

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http://dx.doi.org/10.1002/ajmg.c.30250DOI Listing
February 2010

Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients.

Am J Med Genet C Semin Med Genet 2010 Feb;154C(1):93-101

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-3717, USA.

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http://doi.wiley.com/10.1002/ajmg.c.30253
Publisher Site
http://dx.doi.org/10.1002/ajmg.c.30253DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2815008PMC
February 2010

Analysis of genotype-phenotype correlations in human holoprosencephaly.

Am J Med Genet C Semin Med Genet 2010 Feb;154C(1):133-41

National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1002/ajmg.c.30240DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2815217PMC
February 2010

Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: further delineation and review.

Am J Med Genet A 2009 Jul;149A(7):1476-81

Service de Génétique Médicale, ULB, Hôpital Erasme, Brussels, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.32678DOI Listing
July 2009

Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans.

Hum Genet 2009 May 31;125(4):393-400. Epub 2009 Jan 31.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 35 Convent Drive-MSC 3717, Building 35, Bethesda, MD 20892-3717, USA.

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http://dx.doi.org/10.1007/s00439-009-0628-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2774849PMC
May 2009

Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein.

Nat Genet 2008 Nov 5;40(11):1348-53. Epub 2008 Oct 5.

Department of Genetics, University of Pennsylvania School of Medicine, 415 Curie Boulevard, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1038/ng.230DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2648611PMC
November 2008

MLPA screening reveals novel subtelomeric rearrangements in holoprosencephaly.

Hum Mutat 2007 Dec;28(12):1189-97

Institut de Génétique et Développement de Rennes, Université de Rennes1, Faculté de Médecine, Rennes, France.

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http://dx.doi.org/10.1002/humu.20594DOI Listing
December 2007

Midline defects in deletion 18p syndrome: clinical and molecular characterization of three patients.

Clin Dysmorphol 2007 Oct;16(4):247-52

Cytogenetics Laboratory, AP-HP, Saint-Antoine's Hospital, Pierre and Marie Curie University, Paris, France.

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http://dx.doi.org/10.1097/MCD.0b013e328235a572DOI Listing
October 2007

Phenotypic variability of a 4q34-->qter inherited deletion: MRKH syndrome in the daughter, cardiac defect and Fallopian tube cancer in the mother.

Eur J Med Genet 2007 Jan-Feb;50(1):66-72. Epub 2006 Oct 1.

CNRS UMR 6061, Génétique et Développement, Université de Rennes 1, IFR140 GFAS, Faculté de Médecine, 2, avenue du Profeseur Leon Bernard, Rennes 35043, France.

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http://dx.doi.org/10.1016/j.ejmg.2006.09.003DOI Listing
March 2007

Holoprosencephaly.

Orphanet J Rare Dis 2007 Feb 2;2. Epub 2007 Feb 2.

UMR 6061 CNRS, Institut de Génétique et Développement de Rennes, Université de Rennes1, IFR 140 GFAS, Faculté de Médecine, Rennes, 35000, France.

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http://dx.doi.org/10.1186/1750-1172-2-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1802747PMC
February 2007

Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes.

Hum Genet 2006 Mar 2;119(1-2):1-8. Epub 2005 Dec 2.

Groupe Génétique Humaine, IFR140 GFAS, CNRS UMR 6061, Université de Rennes1, 2 avenue du Pr Léon Bernard, CS 34317, 35043 Rennes Cedex, France.

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http://dx.doi.org/10.1007/s00439-005-0097-6DOI Listing
March 2006

Functional characterization of sonic hedgehog mutations associated with holoprosencephaly.

J Biol Chem 2004 Oct 28;279(41):42889-97. Epub 2004 Jul 28.

Institut de Neurobiologie Alfred Fessard, IFR 2118 CNRS, Laboratoire de Neurobiologie Cellulaire et Moléculaire, UPR 9040 CNRS, Bātiment 33, 1 avenue de la terrasse 91198 Gif sur Yvette, France.

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http://www.jbc.org/lookup/doi/10.1074/jbc.M405161200
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http://dx.doi.org/10.1074/jbc.M405161200DOI Listing
October 2004

Promoter analysis of the human translation termination factor 1 gene.

Gene 2003 Oct;316:91-101

Département de Biochimie et Biologie Moléculaire, UMR 6061 "Génétique et Développement", Faculté de Médecine, CS 34317, 2 Avenue du Pr. Leon Bernard, 35043 Cedex, Rennes, France.

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http://dx.doi.org/10.1016/s0378-1119(03)00742-xDOI Listing
October 2003

Evaluation of ETF1/eRF1, mapping to 5q31, as a candidate myeloid tumor suppressor gene.

Cancer Genet Cytogenet 2002 Apr;134(1):33-7

Département de Biochimie et Biologie Moléculaire, UMR 6061, Faculté de Médecine CS 34317, 35043 Rennes Cedex, France.

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http://dx.doi.org/10.1016/s0165-4608(01)00605-7DOI Listing
April 2002