Veronique Satre

Veronique Satre

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Veronique Satre

Veronique Satre

Publications by authors named "Veronique Satre"

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Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.

J Med Genet 2019 Aug 28;56(8):526-535. Epub 2019 Mar 28.

Service de Génétique, Hospices Civils de Lyon, Bron, France.

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http://dx.doi.org/10.1136/jmedgenet-2018-105778DOI Listing
August 2019

Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice.

Am J Hum Genet 2019 Feb 24;104(2):331-340. Epub 2019 Jan 24.

Team Genetics Epigenetics and Therapies of Infertility, Institute for Advanced Biosciences, Université Grenoble Alpes, Inserm U1209, Centre National de la Recherche Scientifique UMR 5309, Grenoble 38000, France; Unité Médicale de génétique de l'infertilité et de diagnostic pré-implantatoire (GI-DPI), Centre Hospitalier Universitaire Grenoble Alpes, Grenoble 38000, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.12.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6372258PMC
February 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

Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse.

Am J Hum Genet 2018 04;102(4):636-648

Univ. Grenoble Alpes, INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility, 38000 Grenoble, France; CHU Grenoble Alpes, UM de Génétique Chromosomique, 38000 Grenoble, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.03.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985338PMC
April 2018

Patients with multiple morphological abnormalities of the sperm flagella due to DNAH1 mutations have a good prognosis following intracytoplasmic sperm injection.

Hum Reprod 2016 06 19;31(6):1164-72. Epub 2016 Apr 19.

Université Grenoble Alpes, Grenoble F-38000, France Equipe 'Genetics Epigenetics and Therapies of Infertility', Institut Albert Bonniot (IAB), INSERM U1209, CNRS UMR 5309, Grenoble F-38000, France CHU de Grenoble, UF de Génétique Chromosomique, Grenoble F-38000, France.

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https://academic.oup.com/humrep/article-lookup/doi/10.1093/h
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http://dx.doi.org/10.1093/humrep/dew083DOI Listing
June 2016

Microdeletion del(22)(q12.1) excluding the MN1 gene in a patient with craniofacial anomalies.

Am J Med Genet A 2016 Feb 6;170A(2):498-503. Epub 2015 Nov 6.

Département de Génétique et Procréation, Hôpital Couple-Enfant, CHU de Grenoble, Grenoble, France.

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http://dx.doi.org/10.1002/ajmg.a.37450DOI Listing
February 2016

13q31.1 microdeletion: A prenatal case report with macrocephaly and macroglossia.

Eur J Med Genet 2015 Oct 10;58(10):526-30. Epub 2015 Sep 10.

Département de Génétique et Procréation, Hôpital Couple Enfant, CHU Grenoble, 38043 Grenoble Cedex, France; Université Grenoble-Alpes, 38000 Grenoble, France; Equipe "Genetics Epigenetics and Therapies of Infertility" Institut Albert Bonniot, INSERM U823, La Tronche F-38706, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.09.003DOI Listing
October 2015

FISH and tips: a large scale analysis of automated versus manual scoring for sperm aneuploidy detection.

Basic Clin Androl 2013 1;23:13. Epub 2013 Dec 1.

Genetic and procreation Department, CS 10217, CHU de Grenoble, Laboratoire d'aide à la procréation - CECOS, Grenoble, Cedex 9, 38043 France ; Joseph Fourier University, Grenoble, F-38000 France ; Laboratoire AGIM, CNRS FRE3405, "Equipe Andrologie Génétique et Cycle cellulaire", La Tronche, F-38700 France.

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http://dx.doi.org/10.1186/2051-4190-23-13DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4349666PMC
March 2015

Array-CGH in children with mild intellectual disability: a population-based study.

Eur J Pediatr 2015 Jan 3;174(1):75-83. Epub 2014 Jul 3.

Laboratoire de Génétique Chromosomique, Département de Génétique et Procréation, Hôpital Couple Enfant, CHU Grenoble, 38700, Grenoble, France,

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http://dx.doi.org/10.1007/s00431-014-2367-6DOI Listing
January 2015

Optimized Generation of Functional Neutrophils and Macrophages from Patient-Specific Induced Pluripotent Stem Cells: Ex Vivo Models of X(0)-Linked, AR22(0)- and AR47(0)- Chronic Granulomatous Diseases.

Biores Open Access 2014 Dec;3(6):311-26

Techniques de l' Ingénierie Médicale et de la Complexité-Informatique, Mathématiques et Applications, Grenoble (TIMC-IMAG), Université Grenoble Alpes , Grenoble, France . ; Centre Diagnostic et Recherche sur la CGD (CDiReC), Pôle Biologie, Centre Hospitalier Universitaire de Grenoble , Grenoble, France .

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http://dx.doi.org/10.1089/biores.2014.0045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4245876PMC
December 2014

7p22.3 microdeletion disrupting SNX8 in a patient presenting with intellectual disability but no tetralogy of Fallot.

Am J Med Genet A 2014 Aug 8;164A(8):2133-5. Epub 2014 Apr 8.

Département de Biochimie, Biochimie et Génétique Moléculaire, Toxicologie et Pharmacologie, CHU Grenoble, Grenoble, France; Université Joseph Fourier, Grenoble, France; Grenoble Institut des Neurosciences, Unité INSERM U836, Grenoble, France.

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http://dx.doi.org/10.1002/ajmg.a.36566DOI Listing
August 2014

Maternal complex chromosomal rearrangement leads to TCF12 microdeletion in a patient presenting with coronal craniosynostosis and intellectual disability.

Am J Med Genet A 2014 Jun 19;164A(6):1530-6. Epub 2014 Mar 19.

Laboratoire de Génétique Chromosomique, Département de Génétique et Procréation, Hôpital Couple Enfant, CHU Grenoble, Grenoble, France.

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http://doi.wiley.com/10.1002/ajmg.a.36467
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http://dx.doi.org/10.1002/ajmg.a.36467DOI Listing
June 2014

Functional and genetic characterization of two extremely rare cases of Williams-Beuren syndrome associated with chronic granulomatous disease.

Eur J Hum Genet 2013 Oct 23;21(10):1079-84. Epub 2013 Jan 23.

1] Chronic Granulomatous Disease Diagnosis and Research Centre, Therex-TIMC/Imag, UMR CNRS 5525, UJF-Grenoble 1, Grenoble, France [2] Pôle Biologie, CHU de Grenoble, Grenoble, France.

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http://dx.doi.org/10.1038/ejhg.2012.310DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3778347PMC
October 2013

17p13.1 microduplication in a boy with Silver-Russell syndrome features and intellectual disability.

Am J Med Genet A 2012 Oct 17;158A(10):2564-70. Epub 2012 Aug 17.

Laboratoire de Génétique Chromosomique, Département de Génétique et Procréation, Hôpital Couple Enfant, CHU Grenoble, France.

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http://dx.doi.org/10.1002/ajmg.a.35553DOI Listing
October 2012

[Genetics of male infertility: the new players].

Med Sci (Paris) 2012 May 30;28(5):497-502. Epub 2012 May 30.

Équipe génétique, infertilité et thérapeutiques, laboratoire AGIM (ageing, imaging and modeling), CNRS FRE3405, La Tronche, 38700, France.

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http://www.medecinesciences.org/10.1051/medsci/2012285014
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http://dx.doi.org/10.1051/medsci/2012285014DOI Listing
May 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

Lowe syndrome protein Ocrl1 is translocated to membrane ruffles upon Rac GTPase activation: a new perspective on Lowe syndrome pathophysiology.

Hum Mol Genet 2005 Jun 13;14(11):1441-8. Epub 2005 Apr 13.

Institut Cochin, Département de Génétique, Développement et Pathologie Moléculaire, INSERM U567/CNRS UMR 8104/Université Paris V, 24 rue du Faubourg Saint Jacques, 75014 Paris, France.

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http://dx.doi.org/10.1093/hmg/ddi153DOI Listing
June 2005

Lowe syndrome protein OCRL1 interacts with Rac GTPase in the trans-Golgi network.

Hum Mol Genet 2003 Oct 29;12(19):2449-56. Epub 2003 Jul 29.

Institut Cochin, Département de Génétiques, Développement et Pathologie Moléculaire, INSERM U567/CNRS UMR8104/Université Paris V, France.

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http://dx.doi.org/10.1093/hmg/ddg250DOI Listing
October 2003

End-stage renal failure in Lowe syndrome.

Nephrol Dial Transplant 2003 Sep;18(9):1923-5

Service de Néphrologie, Hôpital Necker, Paris, Service de Néphrologie, AURA, Paris, France.

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http://dx.doi.org/10.1093/ndt/gfg294DOI Listing
September 2003

Epilepsy and hypothalamic hamartoma: look at the hand Pallister-Hall syndrome.

Epileptic Disord 2003 Mar;5(1):27-30

Magnetic Resonance Imaging Unit, Michallon University Hospital, Grenoble, France.

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March 2003