Dominique Bonneau

Dominique Bonneau

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Dominique Bonneau

Publications by authors named "Dominique Bonneau"

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De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.

Genet Med 2019 Nov 14. Epub 2019 Nov 14.

Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.

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http://dx.doi.org/10.1038/s41436-019-0693-9DOI Listing
November 2019

Confirmation that variants in TTI2 are responsible for autosomal recessive intellectual disability.

Clin Genet 2019 Oct 17;96(4):354-358. Epub 2019 Jul 17.

Département de Biochimie et Génétique du CHU d'Angers, Centre Hospitalier Universitaire d'Angers, Angers, France.

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http://dx.doi.org/10.1111/cge.13603DOI Listing
October 2019

Oxidative stress contributes differentially to the pathophysiology of Charcot-Marie-Tooth disease type 2K.

Exp Neurol 2019 Oct 23;323:113069. Epub 2019 Oct 23.

MitoLab, UMR CNRS 6015-INSERM 1083, MitoVasc Institute, University of Angers, Angers, France; University Hospital of Angers, Department of Biochemistry and Genetics, F-49100 Angers, France.

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http://dx.doi.org/10.1016/j.expneurol.2019.113069DOI Listing
October 2019

Warburg-like effect is a hallmark of complex I assembly defects.

Biochim Biophys Acta Mol Basis Dis 2019 Sep 20;1865(9):2475-2489. Epub 2019 May 20.

UMR CNRS 6015-INSERM U1083, MitoVasc Institute, University of Angers, Angers, France; Department of Biochemistry and Genetics, University Hospital of Angers, F-49000, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09254439193017
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http://dx.doi.org/10.1016/j.bbadis.2019.05.011DOI Listing
September 2019

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

Metabolomics reveals highly regional specificity of cerebral sexual dimorphism in mice.

Prog Neurobiol 2019 Sep 23:101698. Epub 2019 Sep 23.

Département de Biochimie et Génétique, Centre Hospitalier Universitaire d'Angers, France; Equipe Mitolab, Unité Mixte de Recherche MITOVASC, CNRS 6015, INSERM U1083, Université d'Angers, Angers, France. Electronic address:

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http://dx.doi.org/10.1016/j.pneurobio.2019.101698DOI Listing
September 2019

A snapshot of some pLI score pitfalls.

Hum Mutat 2019 07 29;40(7):839-841. Epub 2019 Apr 29.

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

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http://dx.doi.org/10.1002/humu.23763DOI Listing
July 2019

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Nat Commun 2019 07 12;10(1):3094. Epub 2019 Jul 12.

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1038/s41467-019-10910-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626132PMC
July 2019

A New Case of PCSK1 Pathogenic Variant With Congenital Proprotein Convertase 1/3 Deficiency and Literature Review.

J Clin Endocrinol Metab 2019 Apr;104(4):985-993

Department of Pediatric Endocrinology and Diabetology, University Hospital of Angers, Angers Cedex 9, France.

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https://academic.oup.com/jcem/advance-article/doi/10.1210/jc
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http://dx.doi.org/10.1210/jc.2018-01854DOI Listing
April 2019

Metabolomic Profiling of Aqueous Humor in Glaucoma Points to Taurine and Spermine Deficiency: Findings from the Eye-D Study.

J Proteome Res 2019 Mar 11;18(3):1307-1315. Epub 2019 Feb 11.

Unité Mixte de Recherche MITOVASC, équipe Mitolab, Centre National de la Recherche Scientifique 6015, Institut National de la Santé et de la Recherche Médicale U1083 , Université d'Angers , Angers 49035 , France.

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http://dx.doi.org/10.1021/acs.jproteome.8b00915DOI Listing
March 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

A Metabolomics Profiling of Glaucoma Points to Mitochondrial Dysfunction, Senescence, and Polyamines Deficiency.

Invest Ophthalmol Vis Sci 2018 09;59(11):4355-4361

Equipe Mitolab, Institut Mitovasc, Centre National de la Recherche Scientifique 6015, Institut National de la Santé et de la Recherche Médicale (INSERM) U1083, Université d'Angers, Angers, France.

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http://dx.doi.org/10.1167/iovs.18-24938DOI Listing
September 2018

The accumulation of assembly intermediates of the mitochondrial complex I matrix arm is reduced by limiting glucose uptake in a neuronal-like model of MELAS syndrome.

Biochim Biophys Acta Mol Basis Dis 2018 May 14;1864(5 Pt A):1596-1608. Epub 2018 Feb 14.

UMR CNRS 6015-INSERM U1083, MitoVasc Institute, Angers University, Angers, France; Biochemistry and Genetics Department, Angers Hospital, F-49000, France. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2018.02.005DOI Listing
May 2018

A subject-specific biomechanical control model for the prediction of cervical spine muscle forces.

Clin Biomech (Bristol, Avon) 2018 01 6;51:58-66. Epub 2017 Dec 6.

Arts et Metiers ParisTech, Institut de Biomecanique Humaine Georges Charpak, 151 bd de l'Hopital, 75013 Paris, France.

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http://dx.doi.org/10.1016/j.clinbiomech.2017.12.001DOI Listing
January 2018

A Plasma Metabolomic Signature Involving Purine Metabolism in Human Optic Atrophy 1 (OPA1)-Related Disorders.

Invest Ophthalmol Vis Sci 2018 01;59(1):185-195

Equipe Mitolab, Institut MITOVASC, Centre National de la Recherche Scientifique 6015, Institut National de la Santé et de la Recherche Médicale U1083, Université d'Angers, Angers, France.

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http://dx.doi.org/10.1167/iovs.17-23027DOI Listing
January 2018

Novel gene mutation in an atypical late-onset mitochondrial form of multifocal dystonia.

Neurol Genet 2017 Dec 11;3(6):e205. Epub 2017 Dec 11.

UMR CNRS 6015-INSERM U1083 (C.B., V.D.-D., N.G., D.G., M.B., D.B., P.A.-B., G.L., P.R., V.P.), Mitovasc Institute, Angers University, France; Department of Biochemistry and Genetics (C.B., V.D.-D., N.G., D.G., M.B., D.B., P.A.-B., G.L., P.R., V.P.), University Hospital of Angers, France; Department of Neurology (T.R.), University Hospital of Nantes, France; and CHU Reims (A.-S.L.), Hôpital Maison Blanche, Pole de biologie, Service de génétique, France.

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http://dx.doi.org/10.1212/NXG.0000000000000205DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5733248PMC
December 2017

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

Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy.

J Cell Mol Med 2017 10 4;21(10):2284-2297. Epub 2017 Apr 4.

PREMMi/Mitochondrial Medicine Research Centre, Institut MITOVASC, CNRS UMR 6015, INSERM U1083, Université d'Angers, CHU d'Angers, Angers, France.

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http://dx.doi.org/10.1111/jcmm.13149DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5618673PMC
October 2017

[An atypical case of lipoid proteinosis].

Ann Pathol 2017 Oct 19;37(5):425-428. Epub 2017 Sep 19.

Service d'anatomie et cytologie pathologiques, centre hospitalier du Mans, 72037 Le Mans cedex 09, France.

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http://dx.doi.org/10.1016/j.annpat.2017.06.009DOI Listing
October 2017

Dissociation between decision-making under risk and decision-making under ambiguity in premanifest and manifest Huntington's disease.

Neuropsychologia 2017 Aug 13;103:87-95. Epub 2017 Jul 13.

Centre National de Référence pour les Maladies Neurogénétiques de l'Adulte, Département de Neurologie, Centre Hospitalier Universitaire, Angers, France; Laboratoire de Psychologie des Pays de la Loire(EA4638), Université d'Angers, Angers, France. Electronic address:

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http://dx.doi.org/10.1016/j.neuropsychologia.2017.07.011DOI Listing
August 2017

Gain-of-Function Mutation in Filamin A Potentiates Platelet Integrin αβ Activation.

Arterioscler Thromb Vasc Biol 2017 06 20;37(6):1087-1097. Epub 2017 Apr 20.

From the INSERM UMR_S 1176, Université Paris-Sud, Université Paris-Saclay, Le Kremlin Bicêtre, France (E.B., F.A., M.L., V.P., O.I., J.-P.R., M.B.); INSERM UMR_S 1211, Université de Bordeaux, CHU Bordeaux UNIV EA 4576, Place Aurélie Raba-Léon, France (P.F., I.C., C.G.); CHU Bordeaux, Centre de Référence Anomalies du Développement Embryonnaire, Service de Génétique Médicale, Hôpital Pellegrin, Place Aurélie Raba-Léon, France (P.F., C.G.); Unité d'Hémostase Biologique, Hospices Civils de Lyon, CBE Bron, EA4609 and CIQLE-Lyon Bio Image, Université Lyon, France (J.-C.B.); Institut Hospitalo-Universitaire LIRYC PTIB, Hôpital Xavier Arnozan, av du Haut Lévêque, Pessac, France (P.N.); and Département de Biochimie et Génétique, INSERM UMR_S 1083 - CNRS 6214, CHU Angers, Angers, France (D.B., E.C.).

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http://dx.doi.org/10.1161/ATVBAHA.117.309337DOI Listing
June 2017

A Nontargeted UHPLC-HRMS Metabolomics Pipeline for Metabolite Identification: Application to Cardiac Remote Ischemic Preconditioning.

Anal Chem 2017 02 6;89(3):2138-2146. Epub 2017 Jan 6.

PREMMi, Pôle de Recherche et d'Enseignement en Médecine Mitochondriale, Institut MITOVASC, CNRS 6214, INSERM U1083, Université d'Angers , 4 Rue Larrey, 49933 Angers CEDEX 9, France.

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http://pubs.acs.org/doi/10.1021/acs.analchem.6b04912
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http://dx.doi.org/10.1021/acs.analchem.6b04912DOI Listing
February 2017

Targeted Metabolomics Reveals Early Dominant Optic Atrophy Signature in Optic Nerves of Opa1delTTAG/+ Mice.

Invest Ophthalmol Vis Sci 2017 02;58(2):812-820

Pôle de Recherche et d'Enseignement en Médecine Mitochondriale (PREMMi), Institut MITOVASC, Université d'Angers, Angers, France 2Département de Biochimie et Génétique, Centre Hospitalier Universitaire, Angers, France.

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http://dx.doi.org/10.1167/iovs.16-21116DOI Listing
February 2017

The addition of ketone bodies alleviates mitochondrial dysfunction by restoring complex I assembly in a MELAS cellular model.

Biochim Biophys Acta Mol Basis Dis 2017 01 1;1863(1):284-291. Epub 2016 Nov 1.

UMR CNRS 6214-INSERM U1083, Mitovasc Institute, Angers University, Angers, France; Biochemistry and Genetics Department, Angers Hospital, F-49000, France. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2016.10.028DOI Listing
January 2017

Increased mitochondrial fusion in a autosomal recessive CMT2A family with mitochondrial GTPase mitofusin 2 mutations.

J Peripher Nerv Syst 2016 12;21(4):365-369

PREMMi/Mitochondrial Medicine Research Centre, Institut MITOVASC, CNRS UMR 6214, INSERM U1083, Université d'Angers, CHU d'Angers, Angers, France.

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http://dx.doi.org/10.1111/jns.12192DOI Listing
December 2016

OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology.

Neurobiol Dis 2016 Jun 23;90:20-6. Epub 2015 Aug 23.

Centre Hospitalier Universitaire, Département de Biochimie et Génétique, Angers, France; UMR CNRS 6214-INSERM 1083, Université d'Angers, Angers, France. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2015.08.015DOI Listing
June 2016

Dermatologic features of Smith-Magenis syndrome.

Pediatr Dermatol 2015 May-Jun;32(3):337-41. Epub 2015 Feb 12.

Department of Dermatology, University Hospital of Angers, Angers, France.

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http://dx.doi.org/10.1111/pde.12517DOI Listing
April 2016

Theory of mind and empathy in preclinical and clinical Huntington's disease.

Soc Cogn Affect Neurosci 2016 Jan 25;11(1):89-99. Epub 2015 Jul 25.

Centre National de Référence pour les Maladies Neurogénétiques de l'Adulte, Département de Neurologie, Centre Hospitalier Universitaire d'Angers, Angers France, and LUNAM Université, Université d'Angers, Laboratoire de Psychologie des Pays de la Loire (EA 4638), Angers, France

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http://dx.doi.org/10.1093/scan/nsv093DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4692318PMC
January 2016

Salivary Hormones Response to Preparation and Pre-competitive Training of World-class Level Athletes.

Front Physiol 2015 16;6:333. Epub 2015 Nov 16.

Fatigue and Vigilance Unit (EA 7330), Neurosciences and Operational Constraints Department, French Armed Forces Biomedical Research Institute (IRBA), Paris Descartes University Brétigny-sur-Orge, France.

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http://dx.doi.org/10.3389/fphys.2015.00333DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4644790PMC
December 2015

Reliable protocol for shear wave elastography of lower limb muscles at rest and during passive stretching.

Ultrasound Med Biol 2015 Sep 27;41(9):2284-91. Epub 2015 Jun 27.

LBM/Institut de Biomécanique Humaine Georges Charpark, Arts et Métiers ParisTech, 151 Boulevard de l'Hôpital, Paris 75013, France.

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http://dx.doi.org/10.1016/j.ultrasmedbio.2015.04.020DOI Listing
September 2015

Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency.

Int J Biochem Cell Biol 2015 Aug 27;65:91-103. Epub 2015 May 27.

Angers University, Angers, France; Biochemistry and Genetics Laboratory, CHU Angers, F-49000, France; UMR CNRS 6214-INSERM U1083, Angers F-49000, France. Electronic address:

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http://dx.doi.org/10.1016/j.biocel.2015.05.017DOI Listing
August 2015

A phase II, open-label evaluation of cysteamine tolerability in patients with Huntington's disease.

Mov Disord 2015 Feb 5;30(2):288-9. Epub 2014 Dec 5.

Centre de référence des maladies neurogénétiques, Centre Hospitalier Universitaire, Angers, France.

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http://dx.doi.org/10.1002/mds.26101DOI Listing
February 2015

Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients.

Brain 2015 Feb 19;138(Pt 2):284-92. Epub 2014 Dec 19.

1 Département de Neurologie, CHU de Montpellier, 34295 Montpellier, France

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http://brain.oxfordjournals.org/content/brain/138/2/284.full
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http://www.brain.oxfordjournals.org/cgi/doi/10.1093/brain/aw
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http://dx.doi.org/10.1093/brain/awu353DOI Listing
February 2015

Improved locus-specific database for OPA1 mutations allows inclusion of advanced clinical data.

Hum Mutat 2015 Jan 1;36(1):20-5. Epub 2014 Dec 1.

CNRS 6214/INSERM 1083, Angers University, Angers, France; Department of Biochemistry and Genetics, University Hospital, Angers, France.

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http://doi.wiley.com/10.1002/humu.22703
Publisher Site
http://dx.doi.org/10.1002/humu.22703DOI Listing
January 2015

Non-invasive biomechanical characterization of intervertebral discs by shear wave ultrasound elastography: a feasibility study.

Eur Radiol 2014 Dec 13;24(12):3210-6. Epub 2014 Aug 13.

Arts et Métiers ParisTech, LBM, 151 bd de l'hôpital, 75013, Paris, France,

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http://dx.doi.org/10.1007/s00330-014-3382-8DOI Listing
December 2014

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

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.

PLoS Genet 2014 Sep 4;10(9):e1004580. Epub 2014 Sep 4.

Institut Pasteur, Human Genetics and Cognitive Functions Unit, Paris, France; CNRS UMR 3571 Genes, Synapses and Cognition, Institut Pasteur, Paris, France; University Paris Diderot, Sorbonne Paris Cité, Human Genetics and Cognitive Functions, Paris, France; FondaMental Foundation, Créteil, France.

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http://dx.doi.org/10.1371/journal.pgen.1004580DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4154644PMC
September 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

Study on cervical muscle volume by means of three-dimensional reconstruction.

J Magn Reson Imaging 2014 Jun 9;39(6):1411-6. Epub 2013 Oct 9.

Arts et Métiers ParisTech, LBM, Paris, France; State Key Laboratory of Advanced Design and Manufacture for Vehicle Body, Hunan University, Changsha, People's Republic of China.

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http://dx.doi.org/10.1002/jmri.24326DOI Listing
June 2014

Intervertebral disc characterization by shear wave elastography: An in vitro preliminary study.

Proc Inst Mech Eng H 2014 Jun 11;228(6):607-615. Epub 2014 Jun 11.

Arts et Métiers ParisTech, LBM, Paris, France.

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http://dx.doi.org/10.1177/0954411914540279DOI Listing
June 2014

SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism.

J Invest Dermatol 2014 Feb 28;134(2):568-571. Epub 2013 Aug 28.

Maladies Rares: Génétique et Métabolisme (MRGM), University Bordeaux, Bordeaux, France; Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France. Electronic address:

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http://dx.doi.org/10.1038/jid.2013.360DOI Listing
February 2014

Evaluation of the colorectal cancer risk conferred by rare UNC5C alleles.

World J Gastroenterol 2014 Jan;20(1):204-13

Sébastien Küry, Céline Garrec, Fabrice Airaud, Flora Breheret, Virginie Guibert, Cécile Frenard, Stéphane Bezieau, CHU Nantes, Service de Génétique Médicale, 44093 Nantes CEDEX 1, France.

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http://dx.doi.org/10.3748/wjg.v20.i1.204DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3886009PMC
January 2014

Dominant optic atrophy.

Orphanet J Rare Dis 2012 Jul 9;7:46. Epub 2012 Jul 9.

Institut des Neurosciences de Montpellier, U1051 de l'INSERM, Université de Montpellier I et II, BP 74103, F-34091 Montpellier cedex 05, France.

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http://dx.doi.org/10.1186/1750-1172-7-46DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3526509PMC
July 2012