Publications by authors named "Christine Francannet"

65Publications

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

Genet Med 2020 03 3;22(3):524-537. 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
March 2020

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies.

Authors:
Karim Wahbi Rabah Ben Yaou Estelle Gandjbakhch Frédéric Anselme Thomas Gossios Neal K Lakdawala Caroline Stalens Frédéric Sacher Dominique Babuty Jean-Noel Trochu Ghassan Moubarak Kostantinos Savvatis Raphaël Porcher Pascal Laforêt Abdallah Fayssoil Eloi Marijon Tanya Stojkovic Anthony Béhin Sarah Leonard-Louis Guilhem Sole Fabien Labombarda Pascale Richard Corinne Metay Susana Quijano-Roy Ivana Dabaj Didier Klug Marie-Christine Vantyghem Philippe Chevalier Pierre Ambrosi Emmanuelle Salort Nicolas Sadoul Xavier Waintraub Khadija Chikhaoui Philippe Mabo Nicolas Combes Philippe Maury Jean-Marc Sellal Usha B Tedrow Jonathan M Kalman Jitendra Vohra Alexander F A Androulakis Katja Zeppenfeld Tina Thompson Christine Barnerias Henri-Marc Bécane Eric Bieth Franck Boccara Damien Bonnet Françoise Bouhour Stéphane Boulé Anne-Claire Brehin Françoise Chapon Pascal Cintas Jean-Marie Cuisset Jean-Marc Davy Annachiara De Sandre-Giovannoli Florence Demurger Isabelle Desguerre Klaus Dieterich Julien Durigneux Andoni Echaniz-Laguna Romain Eschalier Ana Ferreiro Xavier Ferrer Christine Francannet Mélanie Fradin Bénédicte Gaborit Arnaud Gay Albert Hagège Arnaud Isapof Isabelle Jeru Raul Juntas Morales Emmanuelle Lagrue Nicolas Lamblin Olivier Lascols Vincent Laugel Arnaud Lazarus France Leturcq Nicolas Levy Armelle Magot Véronique Manel Raphaël Martins Michèle Mayer Sandra Mercier Christophe Meune Maud Michaud Marie-Christine Minot-Myhié Antoine Muchir Aleksandra Nadaj-Pakleza Yann Péréon Philippe Petiot Florence Petit Julien Praline Anne Rollin Pascal Sabouraud Catherine Sarret Stéphane Schaeffer Frederic Taithe Céline Tard Vincent Tiffreau Annick Toutain Camille Vatier Ulrike Walther-Louvier Bruno Eymard Philippe Charron Corinne Vigouroux Gisèle Bonne Saurabh Kumar Perry Elliott Denis Duboc

Circulation 2019 07 3;140(4):293-302. Epub 2019 Jun 3.

APHP, Cochin Hospital, Cardiology Department, FILNEMUS, Centre de Référence de Pathologie Neuromusculaire Nord/Est/Ile de France, Paris-Descartes, Sorbonne Paris Cité University (K.W., D.D.).

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http://dx.doi.org/10.1161/CIRCULATIONAHA.118.039410DOI Listing
July 2019

Association between hereditary predisposition to common cancers and congenital multimalformations.

Congenit Anom (Kyoto) 2020 Jan 12;60(1):22-31. Epub 2019 Mar 12.

Oncogenetics Department, Centre Jean Perri (Comprehensive Cancer Center), Clermont-Ferrand, France.

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http://dx.doi.org/10.1111/cga.12329DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6973007PMC
January 2020

Sperm meiotic segregation of a balanced interchromosomal reciprocal insertion resulting in recurrent spontaneous miscarriage.

Reprod Biomed Online 2018 Jul 9;37(1):100-106. Epub 2018 Apr 9.

Medical Cytogenetics Department, CHU Estaing, F-63003 Clermont-Ferrand, France; Université Clermont Auvergne, INSERM, U1240 Imagerie Moléculaire et Stratégies Théranostiques, F-63000 Clermont-Ferrand, France. Electronic address:

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http://dx.doi.org/10.1016/j.rbmo.2018.03.019DOI Listing
July 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

Congenital unilateral renal agenesis: Prevalence, prenatal diagnosis, associated anomalies. Data from two birth-defect registries.

Birth Defects Res 2017 Sep 19;109(15):1204-1211. Epub 2017 Jul 19.

Centre d'Etude des Malformations Congénitale, CEMC-Auvergne, Clermont-Ferrand, France.

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http://dx.doi.org/10.1002/bdr2.1065DOI Listing
September 2017

Characterization by microarray and meiotic segregation study of a der(10)t(10;18) in a patient with infertility and normal phenotype.

Asian J Androl 2017 Jan-Feb;19(1):135-137

Department of Medical Cytogenetic, Univ Clermont 1, CHU Estaing, Clermont-Ferrand, France EA 4677, ERTICa, Univ Clermont 1, Clermont-Ferrand, France.

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http://dx.doi.org/10.4103/1008-682X.172818DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5227663PMC
February 2017

Impact of prenatal diagnosis on the outcome of patients with a transposition of great arteries: A 24-year population-based study.

Birth Defects Res A Clin Mol Teratol 2016 Mar 21;106(3):178-84. Epub 2015 Dec 21.

EA 4681, PEPRADE, Clermont Université, Université d'Auvergne, Clermont-Ferrand, France.

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http://dx.doi.org/10.1002/bdra.23474DOI Listing
March 2016

Rare ACTG1 variants in fetal microlissencephaly.

Eur J Med Genet 2015 Aug 16;58(8):416-8. Epub 2015 Jul 16.

Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France; Institut Imagine-INSERM UMR-1163, Embryology and Genetics of Congenital Malformations, Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212150011
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http://dx.doi.org/10.1016/j.ejmg.2015.06.006DOI Listing
August 2015

Prenatal diagnosis of the VACTERL association using routine ultrasound examination.

Birth Defects Res A Clin Mol Teratol 2015 Oct 2;103(10):880-6. Epub 2015 Jun 2.

Pôle Gynéco-Obstétrique-Reproduction Humaine, CHU Clermont-Ferrand, Clermont-Ferrand, France.

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http://dx.doi.org/10.1002/bdra.23346DOI Listing
October 2015

Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome.

Am J Med Genet A 2015 Jan 25;167A(1):250-3. Epub 2014 Nov 25.

Cytogénétique Médicale, Univ Clermont1, UFR Médecine, CHU Clermont-Ferrand, CHU Estaing, France; EA 4677, ERTICa, Université d'Auvergne, Clermont-Ferrand, France.

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http://dx.doi.org/10.1002/ajmg.a.36840DOI Listing
January 2015

Clinical and molecular description of a 17q21.33 microduplication in a girl with severe kyphoscoliosis and developmental delay.

Eur J Med Genet 2014 Oct 6;57(10):552-7. Epub 2014 Aug 6.

Univ Clermont 1, UFR Médecine, Cytologie Histologie Embryologie Cytogénétique, Clermont-Ferrand, F-63001, France; CHU Estaing, Cytogénétique Médicale, Clermont-Ferrand, F-63003, France; ERTICa, Univ Clermont 1, UFR Médecine, Clermont-Ferrand, F-63001, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.07.003DOI Listing
October 2014

Mutations in SETD2 cause a novel overgrowth condition.

J Med Genet 2014 Aug 22;51(8):512-7. Epub 2014 May 22.

INSERM UMR_1163, Département de génétique, Université Paris Descartes Sorbonne Paris Cité, Institut Imagine, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1136/jmedgenet-2014-102402DOI Listing
August 2014

A new mutation that predicted a drastic alteration of the BTK protein function.

Gene 2013 Sep 15;527(1):426-8. Epub 2013 Jun 15.

Centre Hospitalier et Universitaire de Clermont-Ferrand, génétique médicale, F-63058 Clermont-Ferrand, France.

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http://dx.doi.org/10.1016/j.gene.2013.05.070DOI Listing
September 2013

A new case of 8q22.1 microdeletion restricts the critical region for Nablus mask-like facial syndrome.

Am J Med Genet A 2013 Jan 13;161A(1):162-5. Epub 2012 Dec 13.

Génétique Médicale, Univ Clermont1, UFR Médecine, CHU Clermont-Ferrand, CHU Estaing, France.

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http://dx.doi.org/10.1002/ajmg.a.35614DOI Listing
January 2013

An atypical 0.8 Mb inherited duplication of 22q11.2 associated with psychomotor impairment.

Eur J Med Genet 2012 Nov 14;55(11):650-5. Epub 2012 Jul 14.

Cytogénétique Médicale, Univ Clermont1, UFR Médecine, CHU Clermont-Ferrand, CHU Estaing, 1 place Lucie Aubrac, 63003 Clermont-Ferrand Cedex1, France.

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http://dx.doi.org/10.1016/j.ejmg.2012.06.014DOI Listing
November 2012

Sjögren-Larsson syndrome: novel mutations in the ALDH3A2 gene in a French cohort.

J Neurol Sci 2012 Jan 26;312(1-2):123-6. Epub 2011 Aug 26.

Génétique, Reproduction et Développement, Unité Mixte de Recherche 931 (Institut National de la Santé et de la Recherche médicale), Faculté de médecine, Clermont-Ferrand, France.

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http://dx.doi.org/10.1016/j.jns.2011.08.006DOI Listing
January 2012

Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome.

Prenat Diagn 2010 Nov;30(11):1072-8

Département de Génétique et Procréation, CHU de Grenoble, France.

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http://dx.doi.org/10.1002/pd.2613DOI Listing
November 2010

Trisomy 20q caused by interstitial duplication 20q13.2: clinical report and literature review.

Am J Med Genet A 2008 May;146A(10):1307-11

CHU Clermont-Ferrand, Service de Biochimie Biologie Moléculaire, Clermont-Ferrand, France.

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http://dx.doi.org/10.1002/ajmg.a.32278DOI Listing
May 2008

Fetal and maternal CYP2E1 genotypes and the risk of nonsyndromic oral clefts.

Am J Med Genet A 2007 Jun;143A(12):1382-5

Inserm, U625; Univ Rennes I, GERHM, IFR140, Rennes, France.

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http://dx.doi.org/10.1002/ajmg.a.31779DOI Listing
June 2007

Antenatal detection and impact on outcome of congenital diaphragmatic hernia: a 12-year experience in Auvergne, France.

Eur J Obstet Gynecol Reprod Biol 2006 Apr 15;125(2):202-5. Epub 2005 Aug 15.

CHU Clermont-Ferrand, Maternal Fetal Medecine Unit, Maternité Hôtel-Dieu, Boulevard Léon Malfreyt, 63003 Clermont-Ferrand Cedex, France.

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http://dx.doi.org/10.1016/j.ejogrb.2005.06.030DOI Listing
April 2006

Genetics of nonsyndromic cleft lip with or without cleft palate: is there a Mendelian sub-entity?

Ann Genet 2004 Jan-Mar;47(1):29-39

Unité de Recherches INSERM U535, Hôpital Paul Brousse, BP 1000, 98417 Villejuif cedex, France.

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http://dx.doi.org/10.1016/j.anngen.2003.12.002DOI Listing
December 2004