Sylvie Odent

Sylvie Odent

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Sylvie Odent

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

Genet Med 2019 Oct 3. 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
October 2019

Population genetic screening: current issues in a European country.

Eur J Hum Genet 2019 Sep 8;27(9):1321-1323. Epub 2019 May 8.

INSERM U1086, Anticipe, Normandie Université, 3 avenue du Général Harris, F-14076, Caen, France.

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http://dx.doi.org/10.1038/s41431-019-0425-2DOI Listing
September 2019

Primal health research in the age of epigenetic clocks.

Med Hypotheses 2019 Sep 19;133:109403. Epub 2019 Sep 19.

Primal Health Research Centre, London NW3 2JR, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.mehy.2019.109403DOI Listing
September 2019

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

Intellectual functioning in Silver-Russell syndrome: First study in adults.

Appl Neuropsychol Adult 2019 Aug 8:1-12. Epub 2019 Aug 8.

b Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, CHU de Rennes , Rennes , France.

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http://dx.doi.org/10.1080/23279095.2019.1644643DOI Listing
August 2019

Whole Exome Sequencing Reveals a Large Genetic Heterogeneity and Revisits the Causes of Hypertrophic Cardiomyopathy.

Circ Genom Precis Med 2019 May;12(5):e002500

Département de génétique médicale, APHM, Hôpital d'enfants de la Timone, Marseille, France. Aix Marseille University, INSERM, Marseille Medical Genetics, Faculté de Médecine, France (K.N., S.R., D.S., J.-P.D., M.C., F.M., C.B., N.L.).

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http://dx.doi.org/10.1161/CIRCGEN.119.002500DOI Listing
May 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

Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis.

Am J Med Genet A 2018 07 27;176(7):1610-1613. Epub 2018 Apr 27.

Unité d'Embryofoetopathologie, Service d'Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, Assistance Publique - Hôpitaux de Paris (AP-HP), Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.38685DOI Listing
July 2018

Recent advances in understanding inheritance of holoprosencephaly.

Am J Med Genet C Semin Med Genet 2018 06 22;178(2):258-269. Epub 2018 May 22.

Univ Rennes, CNRS, IGDR (Institut de génétique et développement de Rennes) - UMR 6290, F - 35000, Rennes, France.

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http://dx.doi.org/10.1002/ajmg.c.31619DOI Listing
June 2018

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

Am J Hum Genet 2018 05 12;102(5):744-759. Epub 2018 Apr 12.

Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.02.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986661PMC
May 2018

Gestational choriocarcinoma associated with a germline TP53 mutation.

Fam Cancer 2018 01;17(1):113-117

Department of Genetics, Normandy Centre for Genomic and Personalized Medicine, Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, F 76000, Rouen, France.

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http://dx.doi.org/10.1007/s10689-017-9996-7DOI Listing
January 2018

Ultrasound Presentation of a Disseminated Fetal and Neonatal Rhabdoid Tumor.

Case Rep Obstet Gynecol 2018 31;2018:6073204. Epub 2018 Jan 31.

Department of Obstetrics and Gynaecology, CHU de Rennes, Hospital Anne de Bretagne, 16 Bd de Bulgarie, BP 90347, 35 203 Rennes Cedex 2, France.

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https://www.hindawi.com/journals/criog/2018/6073204/
Publisher Site
http://dx.doi.org/10.1155/2018/6073204DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5833875PMC
January 2018

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Authors:
Sébastien Küry Geeske M van Woerden Thomas Besnard Martina Proietti Onori Xénia Latypova Meghan C Towne Megan T Cho Trine E Prescott Melissa A Ploeg Stephan Sanders Holly A F Stessman Aurora Pujol Ben Distel Laurie A Robak Jonathan A Bernstein Anne-Sophie Denommé-Pichon Gaëtan Lesca Elizabeth A Sellars Jonathan Berg Wilfrid Carré Øyvind Løvold Busk Bregje W M van Bon Jeff L Waugh Matthew Deardorff George E Hoganson Katherine B Bosanko Diana S Johnson Tabib Dabir Øystein Lunde Holla Ajoy Sarkar Kristian Tveten Julitta de Bellescize Geir J Braathen Paulien A Terhal Dorothy K Grange Arie van Haeringen Christina Lam Ghayda Mirzaa Jennifer Burton Elizabeth J Bhoj Jessica Douglas Avni B Santani Addie I Nesbitt Katherine L Helbig Marisa V Andrews Amber Begtrup Sha Tang Koen L I van Gassen Jane Juusola Kimberly Foss Gregory M Enns Ute Moog Katrin Hinderhofer Nagarajan Paramasivam Sharyn Lincoln Brandon H Kusako Pierre Lindenbaum Eric Charpentier Catherine B Nowak Elouan Cherot Thomas Simonet Claudia A L Ruivenkamp Sihoun Hahn Catherine A Brownstein Fan Xia Sébastien Schmitt Wallid Deb Dominique Bonneau Mathilde Nizon Delphine Quinquis Jamel Chelly Gabrielle Rudolf Damien Sanlaville Philippe Parent Brigitte Gilbert-Dussardier Annick Toutain Vernon R Sutton Jenny Thies Lisenka E L M Peart-Vissers Pierre Boisseau Marie Vincent Andreas M Grabrucker Christèle Dubourg Wen-Hann Tan Nienke E Verbeek Martin Granzow Gijs W E Santen Jay Shendure Bertrand Isidor Laurent Pasquier Richard Redon Yaping Yang Matthew W State Tjitske Kleefstra Benjamin Cogné Slavé Petrovski Kyle Retterer Evan E Eichler Jill A Rosenfeld Pankaj B Agrawal Stéphane Bézieau Sylvie Odent Ype Elgersma Sandra Mercier

Am J Hum Genet 2017 Nov;101(5):768-788

CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.

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http://dx.doi.org/10.1016/j.ajhg.2017.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673671PMC
November 2017

Fetal costello syndrome with neuromuscular spindles excess and p.Gly12Val HRAS mutation.

Eur J Med Genet 2017 Jul 25;60(7):395-398. Epub 2017 Apr 25.

Service d'Anatomopathologie, CHU Hôpital Morvan, Brest, France, EA 4685 LNB UBO, Brest, France.

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http://dx.doi.org/10.1016/j.ejmg.2017.03.014DOI Listing
July 2017

Do the Side Effects of BRAF Inhibitors Mimic RASopathies?

J Invest Dermatol 2017 04;137(4):805-809

Department of Dermatology, Pontchaillou Hospital, CHU de Rennes, Rennes, France; Division of Medicine, Université de Rennes 1, Rennes, France; CNRS UMR6290, GEO team, IGDR, Rennes, France. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2016.12.012DOI Listing
April 2017

Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy.

Int J Mol Sci 2017 Mar 12;18(3). Epub 2017 Mar 12.

Pôle Hospitalo-Universitaire de Psychiatrie de l'Enfant et de l'Adolescent (PHUPEA), University of Rennes 1 and Centre Hospitalier Guillaume Régnier, 35200 Rennes, France.

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http://dx.doi.org/10.3390/ijms18030618DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5372633PMC
March 2017

Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome.

J Med Genet 2017 02 31;54(2):100-103. Epub 2016 Aug 31.

Département de Génétique et Centre de Référence Maladies Rares Syndrome de Marfan et pathologies apparentées, Assistance Publique-Hôpitaux de Paris, Hôpital Bichat, Paris, France.

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http://dx.doi.org/10.1136/jmedgenet-2016-103996DOI Listing
February 2017

First case of osteopathia striata with cranial sclerosis in an adult male with Klinefelter syndrome.

Joint Bone Spine 2017 Jan 28;84(1):87-90. Epub 2016 Jun 28.

Centre de compétences des maladies osseuses constitutionnelles, CHU de Rennes, 35203 Rennes, France; Faculté de médecine, université de Rennes 1, 35043 Rennes, France; Service de rhumatologie, CHU de Rennes, 35203 Rennes, France; Inserm UMR991, 35000 Rennes, France.

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http://dx.doi.org/10.1016/j.jbspin.2016.04.012DOI Listing
January 2017

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

Homozygous STIL mutation causes holoprosencephaly and microcephaly in two siblings.

PLoS One 2015 6;10(2):e0117418. Epub 2015 Feb 6.

Institut de Génétique et Développement de Rennes, Equipe Génétique des Pathologies Liées au Développement, Faculté de Médecine, Université de Rennes 1, 35043 Rennes, France; Laboratoire de Génétique Moléculaire et Génomique, CHU Pontchaillou, 35033 Rennes, France.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0117418PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4319975PMC
February 2016

A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.

J Med Genet 2016 Feb 26;53(2):98-110. Epub 2015 Oct 26.

Centre de Référence des Manifestations Odontologiques des Maladies Rares, Pôle de Médecine et Chirurgie Bucco-dentaires, Hôpitaux Universitaires de Strasbourg (HUS), Strasbourg, France Faculté de Chirurgie Dentaire, Université de Strasbourg, Strasbourg, France Institut de Génétique et de Biologie Moléculaire and Cellulaire-Centre Européen de Recherche en Biologie et en Médecine, CNRS UMR7104, INSERM U964 Université de Strasbourg, Illkirch, France.

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http://dx.doi.org/10.1136/jmedgenet-2015-103302DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4752661PMC
February 2016

Karyotype is not dead (yet)!

Eur J Med Genet 2016 Jan 10;59(1):11-5. Epub 2015 Dec 10.

Laboratoire de Cytogénétique et Biologie Cellulaire, CHU Pontchaillou, Rennes, France; CNRS UMR 6290 (IGDR), Université de Rennes 1, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.11.016DOI Listing
January 2016

Marfan Sartan: a randomized, double-blind, placebo-controlled trial.

Eur Heart J 2015 Aug 2;36(32):2160-6. Epub 2015 May 2.

Centre National de Référence pour le syndrome de Marfan et apparentés, Hôpital Bichat, 46 rue Henry Huchard, Paris 75018, France Service de Cardiologie, AP-HP, Hôpital Bichat, Paris, France INSERM LVTS U1148, Paris 75018, France

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http://dx.doi.org/10.1093/eurheartj/ehv151DOI Listing
August 2015

Osteopathia striata with cranial sclerosis: when a fetal malformation syndrome reveals maternal pathology.

Prenat Diagn 2015 Feb 26;35(2):200-2. Epub 2014 Oct 26.

Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, CHU Hôpital Sud, Rennes, France.

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http://dx.doi.org/10.1002/pd.4502DOI Listing
February 2015

MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections.

Am J Hum Genet 2014 Dec 26;95(6):736-43. Epub 2014 Nov 26.

INSERM U1148, Laboratory for Vascular Translational Science, Hôpital Bichat, Université Paris Diderot, Sorbonne Paris Cité, 75018 Paris, France; AP-HP, Département de Génétique, Hôpital Bichat, 75018 Paris, France; AP-HP, Centre de référence pour les syndromes de Marfan et apparentés, Service de Cardiologie, Hôpital Bichat, 75018 Paris, France; UFR de Médecine, Université Paris Diderot, 75018 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.10.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4259978PMC
December 2014

Transient neonatal liver disease after maternal antenatal intravenous Ig infusions in gestational alloimmune liver disease associated with neonatal haemochromatosis.

J Pediatr Gastroenterol Nutr 2014 Nov;59(5):629-35

*Pediatric Hepatology and Inborn Metabolic Diseases Unit, University Children's Hospital, Toulouse †Department of Pediatric Gastroenterology, Hepatology and Nutrition ‡Pathology Department, Hopital Femme Mère Enfant, Bron §Pathology Department, Institut Gustave Roussy ||Sorbonne Universités, UPMC Univ Paris 06, Paris ¶Internal Medicine Department #Special Care Baby Unit, Poissy-Saint Germain en Laye Hospital, Poissy **Clinical Genetics, Hopital Femme Mère Enfant, Bron ‡‡Pediatric Hepatology and Gastroenterology Unit §§Special Care Baby Unit, University Children's Hospital, Bordeaux ||Fetal Medicine, Saint Nicolas Hospital, Blaye ¶¶Neonatal Intensive Care Unit, Armand Trousseau Hospital, Paris ##Neonatal Intensive Care Unit, General Hospital, Saint-Brieuc ***Pediatric Surgery, Saint-Brieuc †††Clinical Genetics, University Hospital, Rennes, France ‡‡‡Metabolic Medicine Department, Great Ormond Street Hospital, London, UK §§§Department of Pediatric Surgery, Hepatology, and Transplantation, Necker Enfants Malades Hospital, Paris ||||||Pediatrics, University Hospital, Limoges, France.

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http://dx.doi.org/10.1097/MPG.0000000000000514DOI Listing
November 2014

Maternal uniparental disomy 14 revealed by alpha 1 antitrypsin deficiency.

Clin Res Hepatol Gastroenterol 2014 Oct 11;38(5):604-6. Epub 2014 Mar 11.

Service de gastroentérologie, hépatologie et nutrition pédiatrique, hôpital Femme-Mère-Enfant, hospices civils de Lyon, université Lyon 1, CHU de Lyon, 59, boulevard Pinel, 69500 Bron, France.

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http://dx.doi.org/10.1016/j.clinre.2014.01.011DOI Listing
October 2014

A recurrent fibrillin-1 mutation in severe early onset Marfan syndrome.

J Pediatr Genet 2014 Sep;3(3):157-62

Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA, USA.

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http://dx.doi.org/10.3233/PGE-14095DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5021001PMC
September 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

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.

Am J Hum Genet 2014 Jul;95(1):113-20

Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, 21079 Dijon, France; Equipe d'Accueil 4271, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France; Laboratoire de Génétique Moléculaire, Plateau Technique de Biologie, Centre Hospitalier Universitaire Dijon, 21079 Dijon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.06.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4085634PMC
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

Orthopedics management of acromicric dysplasia: follow up of nine patients.

Am J Med Genet A 2014 Feb 11;164A(2):331-7. Epub 2013 Dec 11.

Département de Génétique Médicale, INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Institut imagine, Hôpital Necker Enfants Malades, Paris, France; Département de chirurgie orthopédique pédiatrique, Université Paris Descartes-Sorbonne Paris Cité, Hôpital Necker-Enfants-Malades, Paris, France.

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http://doi.wiley.com/10.1002/ajmg.a.36139
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.36139DOI Listing
February 2014

Xq25 duplications encompassing GRIA3 and STAG2 genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance.

Am J Med Genet A 2013 Jun 1;161A(6):1370-5. Epub 2013 May 1.

Université Paris Descartes, INSERM U 781 & Département de Génétique, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.35307DOI Listing
June 2013

NODAL and SHH dose-dependent double inhibition promotes an HPE-like phenotype in chick embryos.

Dis Model Mech 2013 Mar 20;6(2):537-43. Epub 2012 Dec 20.

Institut de Génétique et Développement, CNRS UMR6290, Université de Rennes 1, IFR140 GFAS, Faculté de Médecine, 35043 Rennes, France.

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http://dx.doi.org/10.1242/dmm.010132DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3597036PMC
March 2013

Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP.

Hum Mutat 2013 Jan 16;34(1):88-92. Epub 2012 Oct 16.

Department of Genetics, INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Necker, Paris, France.

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http://dx.doi.org/10.1002/humu.22216DOI Listing
January 2013

Exonic deletions of FXN and early-onset Friedreich ataxia.

Arch Neurol 2012 Jul;69(7):912-6

Université Pierre et Marie Curie, Centre de Recherche de l’Institut du Cerveau et de la Moelle épinière, Institut National de la Santé et de la Recherche Médicale, France.

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http://dx.doi.org/10.1001/archneurol.2011.834DOI Listing
July 2012

FG syndrome: the FGS2 locus revisited.

Am J Med Genet A 2012 Jun 23;158A(6):1489-92. Epub 2012 Apr 23.

Molecular and Experimental Immunology and Neurogenetics, UMR7355, University of orléans, 3b Rue de Férollerie, Orléans La Source, Cedex 2, France.

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http://dx.doi.org/10.1002/ajmg.a.35322DOI Listing
June 2012