Severine Audebert-Bellanger

Severine Audebert-Bellanger

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Severine Audebert-Bellanger

Severine Audebert-Bellanger

Publications by authors named "Severine Audebert-Bellanger"

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12Publications

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Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing.

Authors:
Elodie Girard Séverine Eon-Marchais Robert Olaso Anne-Laure Renault Francesca Damiola Marie-Gabrielle Dondon Laure Barjhoux Didier Goidin Vincent Meyer Dorothée Le Gal Juana Beauvallet Noura Mebirouk Christine Lonjou Juliette Coignard Morgane Marcou Eve Cavaciuti Céline Baulard Marie-Thérèse Bihoreau Odile Cohen-Haguenauer Dominique Leroux Clotilde Penet Sandra Fert-Ferrer Chrystelle Colas Thierry Frebourg François Eisinger Claude Adenis Anne Fajac Laurence Gladieff Julie Tinat Anne Floquet Jean Chiesa Sophie Giraud Isabelle Mortemousque Florent Soubrier Séverine Audebert-Bellanger Jean-Marc Limacher Christine Lasset Sophie Lejeune-Dumoulin Hélène Dreyfus Yves-Jean Bignon Michel Longy Pascal Pujol Laurence Venat-Bouvet Valérie Bonadona Pascaline Berthet Elisabeth Luporsi Christine M Maugard Catherine Noguès Capucine Delnatte Jean-Pierre Fricker Paul Gesta Laurence Faivre Alain Lortholary Bruno Buecher Olivier Caron Marion Gauthier-Villars Isabelle Coupier Nicolas Servant Anne Boland Sylvie Mazoyer Jean-François Deleuze Dominique Stoppa-Lyonnet Nadine Andrieu Fabienne Lesueur

Int J Cancer 2019 04 13;144(8):1962-1974. Epub 2018 Nov 13.

Inserm, Paris, France.

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http://doi.wiley.com/10.1002/ijc.31921
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http://dx.doi.org/10.1002/ijc.31921DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6587727PMC
April 2019

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Authors:
Benjamin Cogné Sophie Ehresmann Eliane Beauregard-Lacroix Justine Rousseau Thomas Besnard Thomas Garcia Slavé Petrovski Shiri Avni Kirsty McWalter Patrick R Blackburn Stephan J Sanders Kévin Uguen Jacqueline Harris Julie S Cohen Moira Blyth Anna Lehman Jonathan Berg Mindy H Li Usha Kini Shelagh Joss Charlotte von der Lippe Christopher T Gordon Jennifer B Humberson Laurie Robak Daryl A Scott Vernon R Sutton Cara M Skraban Jennifer J Johnston Annapurna Poduri Magnus Nordenskjöld Vandana Shashi Erica H Gerkes Ernie M H F Bongers Christian Gilissen Yuri A Zarate Malin Kvarnung Kevin P Lally Peggy A Kulch Brina Daniels Andres Hernandez-Garcia Nicholas Stong Julie McGaughran Kyle Retterer Kristian Tveten Jennifer Sullivan Madeleine R Geisheker Asbjorg Stray-Pedersen Jennifer M Tarpinian Eric W Klee Julie C Sapp Jacob Zyskind Øystein L Holla Emma Bedoukian Francesca Filippini Anne Guimier Arnaud Picard Øyvind L Busk Jaya Punetha Rolph Pfundt Anna Lindstrand Ann Nordgren Fayth Kalb Megha Desai Ashley Harmon Ebanks Shalini N Jhangiani Tammie Dewan Zeynep H Coban Akdemir Aida Telegrafi Elaine H Zackai Amber Begtrup Xiaofei Song Annick Toutain Ingrid M Wentzensen Sylvie Odent Dominique Bonneau Xénia Latypova Wallid Deb Sylvia Redon Frédéric Bilan Marine Legendre Caitlin Troyer Kerri Whitlock Oana Caluseriu Marine I Murphree Pavel N Pichurin Katherine Agre Ralitza Gavrilova Tuula Rinne Meredith Park Catherine Shain Erin L Heinzen Rui Xiao Jeanne Amiel Stanislas Lyonnet Bertrand Isidor Leslie G Biesecker Dan Lowenstein Jennifer E Posey Anne-Sophie Denommé-Pichon Claude Férec Xiang-Jiao Yang Jill A Rosenfeld Brigitte Gilbert-Dussardier Séverine Audebert-Bellanger Richard Redon Holly A F Stessman Christoffer Nellaker Yaping Yang James R Lupski David B Goldstein Evan E Eichler Francois Bolduc Stéphane Bézieau Sébastien Küry Philippe M Campeau

Am J Hum Genet 2019 Mar 28;104(3):530-541. Epub 2019 Feb 28.

Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407527PMC
March 2019

Post-traumatic Stress Disorder in Patients and Relatives Following a Diagnosis of De novo Neurofibromatosis Type 1.

Authors:
Johanna Huguen Séverine Audebert-Bellanger Emilie Brenaut Laurent Misery Claire Abasq-Thomas

Acta Derm Venereol 2018 Feb;98(2):291-293

Department of Dermatology, University Hospital Brest, CHU Morvan Brest, 2 avenue Foch, FR-29200 Brest, France.

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http://dx.doi.org/10.2340/00015555-2813DOI Listing
February 2018

Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?

Authors:
Jessica Le Gall Mathilde Nizon Olivier Pichon Joris Andrieux Séverine Audebert-Bellanger Sabine Baron Claire Beneteau Frédéric Bilan Odile Boute Tiffany Busa Valérie Cormier-Daire Claude Ferec Mélanie Fradin Brigitte Gilbert-Dussardier Sylvie Jaillard Aia Jønch Dominique Martin-Coignard Sandra Mercier Sébastien Moutton Caroline Rooryck Elise Schaefer Marie Vincent Damien Sanlaville Cédric Le Caignec Sébastien Jacquemont Albert David Bertrand Isidor

Eur J Hum Genet 2017 08 14;25(8):930-934. Epub 2017 Jun 14.

Service de Génétique Médicale, CHU Nantes, Nantes, France.

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http://dx.doi.org/10.1038/ejhg.2017.93DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5567159PMC
August 2017

Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients.

Authors:
Sarah Grotto Jean-Marie Cuisset Stéphane Marret Séverine Drunat Patricia Faure Séverine Audebert-Bellanger Isabelle Desguerre Vincent Flurin Anne-Gaëlle Grebille Anne-Marie Guerrot Hubert Journel Gilles Morin Ghislaine Plessis Sylvain Renolleau Joëlle Roume Brigitte Simon-Bouy Renaud Touraine Marjolaine Willems Thierry Frébourg Eric Verspyck Pascale Saugier-Veber

J Neuromuscul Dis 2016 11;3(4):487-495

Department of Genetics, Normandy Center for Medical Genomics and Personalized Medicine, Rouen University Hospital, Rouen, France.

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http://dx.doi.org/10.3233/JND-160177DOI Listing
November 2016

Clinical Characteristics of Pruritus in Neurofibromatosis 1.

Authors:
Emilie Brenaut Constance Nizery-Guermeur Séverine Audebert-Bellanger Salah Ferkal Pierre Wolkenstein Laurent Misery Claire Abasq-Thomas

Acta Derm Venereol 2016 Mar;96(3):398-9

Department of Dermatology, University Hospital of Brest , Brest, France.

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http://dx.doi.org/10.2340/00015555-2241DOI Listing
March 2016

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

Authors:
Olga M Sinilnikova Marie-Gabrielle Dondon Séverine Eon-Marchais Francesca Damiola Laure Barjhoux Morgane Marcou Carole Verny-Pierre Valérie Sornin Lucie Toulemonde Juana Beauvallet Dorothée Le Gal Noura Mebirouk Muriel Belotti Olivier Caron Marion Gauthier-Villars Isabelle Coupier Bruno Buecher Alain Lortholary Catherine Dugast Paul Gesta Jean-Pierre Fricker Catherine Noguès Laurence Faivre Elisabeth Luporsi Pascaline Berthet Capucine Delnatte Valérie Bonadona Christine M Maugard Pascal Pujol Christine Lasset Michel Longy Yves-Jean Bignon Claude Adenis Laurence Venat-Bouvet Liliane Demange Hélène Dreyfus Marc Frenay Laurence Gladieff Isabelle Mortemousque Séverine Audebert-Bellanger Florent Soubrier Sophie Giraud Sophie Lejeune-Dumoulin Annie Chevrier Jean-Marc Limacher Jean Chiesa Anne Fajac Anne Floquet François Eisinger Julie Tinat Chrystelle Colas Sandra Fert-Ferrer Clotilde Penet Thierry Frebourg Marie-Agnès Collonge-Rame Emmanuelle Barouk-Simonet Valérie Layet Dominique Leroux Odile Cohen-Haguenauer Fabienne Prieur Emmanuelle Mouret-Fourme François Cornélis Philippe Jonveaux Odile Bera Eve Cavaciuti Anne Tardivon Fabienne Lesueur Sylvie Mazoyer Dominique Stoppa-Lyonnet Nadine Andrieu

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

Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization.

Authors:
Frederic Brioude Irène Netchine Francoise Praz Marilyne Le Jule Claire Calmel Didier Lacombe Patrick Edery Martin Catala Sylvie Odent Bertrand Isidor Stanislas Lyonnet Sabine Sigaudy Bruno Leheup Séverine Audebert-Bellanger Lydie Burglen Fabienne Giuliano Jean-Luc Alessandri Valérie Cormier-Daire Fanny Laffargue Sophie Blesson Isabelle Coupier James Lespinasse Patricia Blanchet Odile Boute Clarisse Baumann Michel Polak Berenice Doray Alain Verloes Géraldine Viot Yves Le Bouc Sylvie Rossignol

Hum Mutat 2015 Sep 6;36(9):894-902. Epub 2015 Aug 6.

INSERM, UMR_S 938, Centre de recherche Saint-Antoine, F-75012, Paris, France.

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http://dx.doi.org/10.1002/humu.22824DOI Listing
September 2015

Cascade testing in families of carriers identified through newborn screening in Western Brittany (France).

Authors:
Ingrid Duguépéroux Marie-Pierre Audrézet Philippe Parent Séverine Audebert-Bellanger Michel Roussey Claude Férec Virginie Scotet

J Cyst Fibros 2013 Jul 28;12(4):338-44. Epub 2012 Dec 28.

Inserm, U1078, Brest, F-29200, France.

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http://dx.doi.org/10.1016/j.jcf.2012.11.009DOI Listing
July 2013

A small de novo 16q24.1 duplication in a woman with severe clinical features.

Authors:
Sylvia Quéméner-Redon Caroline Bénech Séverine Audebert-Bellanger Gaëlle Friocourt Marc Planes Philippe Parent Claude Férec

Eur J Med Genet 2013 Apr 17;56(4):211-5. Epub 2013 Jan 17.

Institut National de la Santé et de la Recherche Médicale (INSERM), UMR1078, Brest, France.

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http://dx.doi.org/10.1016/j.ejmg.2013.01.001DOI Listing
April 2013

Subtelomeric monosomy 11q and trisomy 16q in siblings and an unrelated child: molecular characterization of two der(11)t(11;16).

Authors:
Audrey Basinko Séverine Audebert-Bellanger Nathalie Douet-Guilbert Jérémie Le Franc Philippe Parent Sylvia Quemener Philippe La Selve Clément Bovo Frédéric Morel Marie-Josée Le Bris Marc De Braekeleer

Am J Med Genet A 2011 Sep 10;155A(9):2281-7. Epub 2011 Aug 10.

Laboratoire d'Histologie, Cytologie et Cytogénétique, Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale, Brest, France.

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http://dx.doi.org/10.1002/ajmg.a.34162DOI Listing
September 2011

Focus on cystic fibrosis and other disorders evidenced in fetuses with sonographic finding of echogenic bowel: 16-year report from Brittany, France.

Authors:
Virginie Scotet Ingrid Duguépéroux Marie-Pierre Audrézet Séverine Audebert-Bellanger Matthieu Muller Martine Blayau Claude Férec

Am J Obstet Gynecol 2010 Dec 8;203(6):592.e1-6. Epub 2010 Oct 8.

Inserm U613, Faculté de Médecine et des Sciences de Santé, Université Brest, Etablissement Français du Sang Bretagne, Brest, France.

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http://dx.doi.org/10.1016/j.ajog.2010.08.033DOI Listing
December 2010