Pierre-Simon Jouk

Pierre-Simon Jouk

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Pierre-Simon Jouk

Pierre-Simon Jouk

Publications by authors named "Pierre-Simon Jouk"

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Longitudinal Study by Two-Dimensional Speckle-Tracking Echocardiography of the Left Ventricle Rotational Mechanics during Postnatal Adaptation in Healthy Newborns.

J Am Soc Echocardiogr 2019 Dec 4. Epub 2019 Dec 4.

DyCTim Team, TIMC-IMAG Laboratory, La Tronche, France; Department of Genetics, Grenoble Alpes University Hospital, Grenoble, France.

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http://dx.doi.org/10.1016/j.echo.2019.09.017DOI Listing
December 2019

The diagnostic workup in a patient with AMC: Overview of the clinical evaluation and paraclinical analyses with review of the literature.

Am J Med Genet C Semin Med Genet 2019 09 1;181(3):337-344. Epub 2019 Aug 1.

Robert Wood Johnson School of Medicine, Rutgers University, New Brunswick, New Jersey, USA.

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http://dx.doi.org/10.1002/ajmg.c.31730DOI Listing
September 2019

Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant.

Eur J Med Genet 2019 Jun 22;62(6):103530. Epub 2018 Aug 22.

Service de Génétique Médicale, CHU de Bordeaux and Laboratoire MRGM, INSERM U1211, Univ. Bordeaux, Bordeaux, France; Centre de Référence Neurogénétique, Service de Génétique Médicale, CHU de Bordeaux, France.

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http://dx.doi.org/10.1016/j.ejmg.2018.08.011DOI Listing
June 2019

Quantitative comparison of human myocardial fiber orientations derived from DTI and polarized light imaging.

Phys Med Biol 2018 10 23;63(21):215003. Epub 2018 Oct 23.

School of Computer and Information Technology, Beijing Jiaotong University, Beijing, People's Republic of China. Univ Lyon, INSA-Lyon, Université Claude Bernard Lyon 1, UJM-Saint Etienne, CNRS, Inserm, CREATIS UMR 5220, U1206, F-69621, LYON, France. Author to whom any correspondence should be addressed.

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http://dx.doi.org/10.1088/1361-6560/aae514DOI Listing
October 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

Disability in adults with arthrogryposis is severe, partly invisible, and varies by genotype.

Neurology 2018 05 6;90(18):e1596-e1604. Epub 2018 Apr 6.

From the Service de Rééducation Neurologique, Institut de Rééducation Hôpital Sud (S.D., M.J., D.P.), and Département Thoracique et Vasculaire, Laboratoire Sommeil & Exercice (B.W.), Hôpital Universitaire Grenoble-Alpes; Laboratoire de Psychologie et Neurocognition (LPNC), CNRS (S.D., D.P.), INSERM, Grenoble Institut des Neurosciences (GIN) (K.D., D.P.), INSERM, HP2 Laboratory (B.W.), and TIMC-IMAG, CNRS (P.-S.J.), Universitaire Grenoble Alpes; and Service de Génétique Clinique (K.D., P.-S.J.), Hôpital Couple Enfant, CHU Grenoble Alpes, Grenoble, France.

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http://dx.doi.org/10.1212/WNL.0000000000005418DOI Listing
May 2018

Postnatal myocardium remodelling generates inhomogeneity in the architecture of the ventricular mass.

Surg Radiol Anat 2018 Jan 28;40(1):75-83. Epub 2017 Nov 28.

Equipe DyCTim, Laboratoire TIMC-IMAG, 38706, La Tronche cedex, France.

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http://dx.doi.org/10.1007/s00276-017-1945-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5820407PMC
January 2018

Biallelic mutation of UNC50, encoding a protein involved in AChR trafficking, is responsible for arthrogryposis.

Hum Mol Genet 2017 10;26(20):3989-3994

Institut National de la Santé et de la Recherche Médicale (Inserm) UMR-1169, Université Paris Sud, 94276 Le Kremlin Bicêtre, France.

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http://dx.doi.org/10.1093/hmg/ddx288DOI Listing
October 2017

Clinical and molecular cytogenetic characterization of four unrelated patients carrying 2p14 microdeletions.

Am J Med Genet A 2017 Aug 9;173(8):2268-2274. Epub 2017 Jun 9.

Hospices Civils de Lyon, Service de Génétique, Centre de Référence Anomalies du Développement, Bron, France.

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http://dx.doi.org/10.1002/ajmg.a.38307DOI Listing
August 2017

Study of myocardial cell inhomogeneity of the human heart: Simulation and validation using polarized light imaging.

Med Phys 2016 May;43(5):2273

CREATIS, CNRS UMR 5220, INSERM U1206, University of Lyon, INSA Lyon, Lyon 69621, France.

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http://dx.doi.org/10.1118/1.4945272DOI Listing
May 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

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

Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures.

Am J Med Genet A 2014 Dec 24;164A(12):3027-34. Epub 2014 Sep 24.

Fédération Hospitalo-Universitaire TRANSLAD et Centre de Génétique et Centre de Référence «Anomalies du Développement et Syndromes Malformatifs» du Grand Est, Hôpital d'Enfants, CHU Dijon, Dijon, France; Université de Bourgogne, Dijon, France.

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http://dx.doi.org/10.1002/ajmg.a.36751DOI Listing
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
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.36467DOI Listing
June 2014

Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella.

Am J Hum Genet 2014 Jan 19;94(1):95-104. Epub 2013 Dec 19.

Université Joseph Fourier, Grenoble 38000, France; Laboratoire AGIM, CNRS FRE3405, Equipe "Andrologie et Génétique," La Tronche 38700, France; CHU de Grenoble, Institut de Biologie et Pathologie, Département de Biochimie, Toxicologie et Pharmacologie (DBTP), UF de Biochimie et Génétique Moléculaire, Grenoble 38000, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2013.11.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3882734PMC
January 2014

Stillbirth classification in population-based data and role of fetal growth restriction: the example of RECODE.

BMC Pregnancy Childbirth 2013 Oct 3;13:182. Epub 2013 Oct 3.

The RHEOP (Registre des Handicaps de l'Enfant et Observatoire Périnatal Isère, Savoie et Haute-Savoie), Grenoble, France.

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http://dx.doi.org/10.1186/1471-2393-13-182DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3850812PMC
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

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

Prenatal diagnosis of achondroplasia: new specific signs.

Prenat Diagn 2009 Jul;29(7):697-702

Maternity Hospital, Chambéry 73000, France.

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http://dx.doi.org/10.1002/pd.2280DOI Listing
July 2009

Absence of beta-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy.

Neuromuscul Disord 2009 Feb 19;19(2):118-23. Epub 2009 Jan 19.

Laboratoire de Biochimie et Génétique Moléculaire & Centre de Référence des Maladies Neuro-Musculaires, CHU Grenoble, France.

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http://dx.doi.org/10.1016/j.nmd.2008.11.009DOI Listing
February 2009

Prenatal manifestation in a family affected by nevoid basal cell carcinoma syndrome.

Eur J Med Genet 2008 Sep-Oct;51(5):472-8. Epub 2008 May 2.

Department of Gynecology and Obstetrics, General Hospital, BP 1125, 73011 Chambery cedex, France.

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http://dx.doi.org/10.1016/j.ejmg.2008.04.002DOI Listing
November 2008

Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility.

Nat Genet 2007 May 15;39(5):661-5. Epub 2007 Apr 15.

Centre Hospitalier Universitaire (CHU) de Grenoble, Département de Génétique et Procréation, Unite Fonctionelle (UF) de biochimie génétique et moléculaire, F-38700 La Tronche, France.

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http://dx.doi.org/10.1038/ng2027DOI Listing
May 2007

Trends, perinatal characteristics, and medical conditions in pervasive developmental disorders.

Dev Med Child Neurol 2006 Nov;48(11):896-900

Register for Disabled Children and the Isère County Perinatal Survey, France.

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http://dx.doi.org/10.1017/S0012162206001964DOI Listing
November 2006

Late event-related potentials and movement complexity in young adults with Down syndrome.

Neurophysiol Clin 2005 Jul;35(2-3):81-91

Université J. Fourier, Laboratoire Sport et Performance Motrice, BP 53, 38041 Grenoble cedex 9, France.

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http://dx.doi.org/10.1016/j.neucli.2005.03.002DOI Listing
July 2005

Perforated tubular duplication of the transverse colon: a rare cause of meconium peritonitis with prenatal diagnosis.

Pediatr Surg Int 2005 Feb 11;21(2):110-2. Epub 2005 Jan 11.

Pediatric Surgical Unit, University Hospital, Grenoble, France.

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http://dx.doi.org/10.1007/s00383-004-1349-6DOI Listing
February 2005

Carbimazole-related gastroschisis.

Ann Pharmacother 2003 Jun;37(6):829-31

Centre Régional de Pharmacovigilance, Centre Hospitalier Universitaire de Grenoble, Grenoble, France.

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http://dx.doi.org/10.1345/aph.1C368DOI Listing
June 2003

A model of the structural and functional development of the normal human fetal left ventricle based on a global growth law.

Comput Methods Biomech Biomed Engin 2002 Apr;5(2):113-26

Department of Composite Materials, LaMaCo, Engineering School of Chambery, University of Savoie, 73376 Le Bourget du Lac, France.

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http://www.tandfonline.com/doi/abs/10.1080/10255840290032135
Publisher Site
http://dx.doi.org/10.1080/10255840290032135DOI Listing
April 2002