Agnes Guichet

Agnes Guichet

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Agnes Guichet

Agnes Guichet

Publications by authors named "Agnes Guichet"

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30Publications

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Prenatal diagnosis of Desbuquois dysplasia type 1 by whole exome sequencing before the occurrence of specific ultrasound signs.

J Matern Fetal Neonatal Med 2019 Sep 12:1-4. Epub 2019 Sep 12.

Department of Biochemistry and Genetics, Angers University Hospital , Angers , France.

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http://dx.doi.org/10.1080/14767058.2019.1657084DOI Listing
September 2019

The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease.

Hum Mol Genet 2016 Apr 9;25(8):1559-73. Epub 2016 Feb 9.

Pathophysiology of Striated Muscles Laboratory, Unit of Functional and Adaptive Biology (BFA), University Paris Diderot, Sorbonne Paris Cité, BFA, UMR CNRS 8251, 75250 Paris Cedex 13, France, Inserm U787, Myology Group, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, 75013 Paris, France, UPMC, UMR787, 75013 Paris, France, AP-HP, Centre de Référence Maladies Neuromusculaires Paris-Est, Groupe Hospitalier Pitié-Salpêtrière, 75013 Paris, France

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http://dx.doi.org/10.1093/hmg/ddw033DOI Listing
April 2016

Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.

Am J Hum Genet 2014 Dec 13;95(6):637-48. Epub 2014 Nov 13.

Institut National de la Santé et de la Recherche Médicale Unité Mixte de Recherche 1163, Laboratory of Inherited Kidney Diseases, 75015 Paris, France; Université Paris Descartes, Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France; Department of Genetics, Necker Hospital, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.10.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4259970PMC
December 2014

Extensive Mongolian spots in 4p16.3 deletion (Wolf-Hirschhorn syndrome).

Clin Dysmorphol 2014 Jul;23(3):109-10

aDepartment of Biochemistry and Genetics, Angers University Hospital bDepartment of Medical Genetics, Montpellier University Hospital cLaboratoire de Biochimie Métabolique, Institut Fédératif de Biologie, Hôpital Purpan, Toulouse, France.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/MCD.0000000000000041DOI Listing
July 2014

New management strategy of pregnancies at risk of congenital adrenal hyperplasia using fetal sex determination in maternal serum: French cohort of 258 cases (2002-2011).

J Clin Endocrinol Metab 2014 Apr 28;99(4):1180-8. Epub 2014 Jan 28.

Laboratoire d'Endocrinologie Moléculaire et Maladies Rares (V.T.-G., R.M., Y.M.), Centre de Biologie et de Pathologie Est, Hospices civils de Lyon, 69677 Bron, France; Département de Génétique (J.-M.C), Laboratoire Cerba, 95066 Cergy Pontoise, France; Département d'Endocrinologie, Diabétologie, et Métabolismes Pédiatriques (M.D.), Hôpital Mère-Enfant, HCL, 69677 Bron, France; Unité d'Endocrinologie pédiatrique (C.B.-M.), Centre Hospitalier de Bicêtre, 94275 Le Kremlin-Bicêtre, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France; Unité de Génétique Clinique (C.B.), Hôpital Robert Debré, AP-HP, 75019 Paris, France; Laboratoire d'Explorations Fonctionnelles (M.H.), Hôpital Trousseau, AP-HP, 75012 Paris, France; Unité d'Endocrinologie et Gynécologie Obstétrique (F.L.), Pôle Femme-Mère-Couple, Hôpital Paule de Viguier, 31059 Toulouse, France; Département de Génétique (N.P.), Hôpital Timone, Assistance Publique-Hôpitaux de Marseille, 13385 Marseille, France; Département de Génétique (S.O.), Hôpital Sud, 35203 Rennes, France; and Département de Génétique (A.G.), Centre Hospitalier UniversitaireAngers, 49033 Angers, France.

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http://dx.doi.org/10.1210/jc.2013-2895DOI Listing
April 2014

Barth syndrome in a female patient.

Mol Genet Metab 2012 May 24;106(1):115-20. Epub 2012 Jan 24.

Service de Médecine Pédiatrique, CHRU de Tours, Université François Rabelais, Tours, France.

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https://linkinghub.elsevier.com/retrieve/pii/S10967192120001
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http://dx.doi.org/10.1016/j.ymgme.2012.01.015DOI Listing
May 2012

Relationship of non-visualization of the fetal gallbladder and amniotic fluid digestive enzymes analysis to outcome.

Prenat Diagn 2012 May 11;32(5):423-6. Epub 2012 Apr 11.

Biochimie-Hormonologie, Hôpital Robert Debré, AP-HP, Paris, France.

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http://dx.doi.org/10.1002/pd.3830DOI 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

Ring chromosome 17 epilepsy may resemble that of ring chromosome 20 syndrome.

Epileptic Disord 2007 Sep 20;9(3):327-31. Epub 2007 Sep 20.

Département de Neurologie, Centre Hospitalier Universitaire, Angers, France.

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http://dx.doi.org/10.1684/epd.2007.0121DOI Listing
September 2007

Heterozygous mutation of steroidogenic factor-1 in 46,XY subjects may mimic partial androgen insensitivity syndrome.

J Clin Endocrinol Metab 2007 Aug 8;92(8):2868-73. Epub 2007 May 8.

Department of Pediatric Endocrinology, University Hospital, 4 rue Larrey, 49033 Angers Cedex 01, France.

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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
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http://dx.doi.org/10.1210/jc.2007-0024DOI Listing
August 2007

Effects of OPA1 mutations on mitochondrial morphology and apoptosis: relevance to ADOA pathogenesis.

J Cell Physiol 2007 May;211(2):423-30

Laboratoire de Biologie Cellulaire et Moléculaire du Contrôle de la Prolifération, Université Paul Sabatier, Toulouse, France.

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http://dx.doi.org/10.1002/jcp.20950DOI Listing
May 2007