Publications by authors named "Christophe Béroud"

100Publications

Pathogenic FBN1 Genetic Variation and Aortic Dissection in Patients With Marfan Syndrome.

J Am Coll Cardiol 2020 03;75(8):843-853

Centre de référence pour le syndrome de Marfan et apparentés, VASCERN HTAD European Reference Center, AP-HP, Hôpital Bichat, Paris, France; INSERM U1148, LVTS, Hôpital Bichat, Paris, France; Université de Paris, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.jacc.2019.12.043DOI Listing
March 2020

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

Circ Genom Precis Med 2019 05;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

Proposition of adjustments to the ACMG-AMP framework for the interpretation of MEN1 missense variants.

Hum Mutat 2019 06 28;40(6):661-674. Epub 2019 Mar 28.

Aix Marseille Univ, APHM, INSERM, MMG, Laboratory of Molecular Biology Hospital La Conception, Marseille, France.

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http://dx.doi.org/10.1002/humu.23746DOI Listing
June 2019

Clinical Significance of Aortic Root Modification Associated With Bicuspid Aortic Valve in Marfan Syndrome.

Circ Cardiovasc Imaging 2019 03;12(3):e008129

Centre National de Référence pour le syndrome de Marfan et apparentés, Paris, France (O.M., F.A., C. Bouleti, G.D., M.L., M.T., C. Boileau, G.J.).

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http://dx.doi.org/10.1161/CIRCIMAGING.118.008129DOI Listing
March 2019

Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia.

J Neurol Sci 2018 08 22;391:31-39. Epub 2018 May 22.

Département de Neurochirurgie, Centre Hospitalier Régional Montpellier, France; Unité de Recherche sur les Comportements et Mouvements Anormaux (URCMA), France; UMR 5203 CNRS-U1191 INSERM-UM-Institut de Génomique Fonctionnelle - IGF, Montpellier, France. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2018.05.018DOI Listing
August 2018

Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity.

Eur Radiol 2018 Dec 25;28(12):5293-5303. Epub 2018 May 25.

Assistance Publique des Hôpitaux de Paris (AP-HP), Service d'Imagerie Médicale, Pôle Neuro-locomoteur, Hôpital Raymond Poincaré, Garches, Hôpitaux Universitaires Paris-Ile-de-France Ouest, Garches, France.

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http://dx.doi.org/10.1007/s00330-018-5472-5DOI Listing
December 2018

Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects.

Hum Mutat 2018 06 25;39(6):774-789. Epub 2018 Mar 25.

Molecular genetics Laboratory, Medical genetics and Cell biology Department, La Timone children's hospital, Assistance-Publique des Hôpitaux de Marseille (APHM), Marseille, France.

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http://dx.doi.org/10.1002/humu.23418DOI Listing
June 2018

[OISO, automatic treatment of patients management in oncogenetics].

Bull Cancer 2017 Jul - Aug;104(7-8):602-607. Epub 2017 Jul 8.

Aix-Marseille université, Inserm, GMGF UMR_S 910, 27, boulevard Jean-Moulin, 13385 Marseille, France; RGDS, hôpital Clairval, 317, boulevard du Redon, 13009 Marseille, France; AP-HM Timone, département de génétique médicale, 264, rue Saint-Pierre, 13005 Marseille, France. Electronic address:

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http://dx.doi.org/10.1016/j.bulcan.2017.06.003DOI Listing
August 2017

Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL).

Metabolism 2017 06 28;71:213-225. Epub 2017 Mar 28.

Aix Marseille Univ, INSERM, GMGF, Marseille, France; Department of Medical Genetics, Molecular genetics Laboratory, La Timone Children's Hospital, 264 Rue Saint Pierre, 13005, Marseille, France. Electronic address:

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http://dx.doi.org/10.1016/j.metabol.2017.03.011DOI Listing
June 2017

Non-Coding Variation: The 2016 Annual Scientific Meeting of the Human Genome Variation Society.

Hum Mutat 2017 04 14;38(4):460-463. Epub 2017 Feb 14.

Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.

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http://dx.doi.org/10.1002/humu.23169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6546288PMC
April 2017

How to Identify Pathogenic Mutations among All Those Variations: Variant Annotation and Filtration in the Genome Sequencing Era.

Hum Mutat 2016 12 26;37(12):1272-1282. Epub 2016 Sep 26.

Aix Marseille University, INSERM, GMGF, Marseille, France.

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http://dx.doi.org/10.1002/humu.23110DOI Listing
December 2016

Clinical Interpretation of Variants from Next-Generation Sequencing: The 2016 Scientific Meeting of the Human Genome Variation Society.

Hum Mutat 2016 10 21;37(10):1110-3. Epub 2016 Aug 21.

Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1002/humu.23059DOI Listing
October 2016

A mutation in the Gardos channel is associated with hereditary xerocytosis.

Blood 2015 Sep 6;126(11):1273-80. Epub 2015 Jul 6.

Aix-Marseille Université, INSERM, Unité Mixte de Recherche S910, Marseille, France; Assistance Publique-Hopitaux de Marseille, Département de Génétique Médicale, Hôpital d'Enfants de la Timone, Marseille, France; Assistance Publique-Hopitaux de Marseille, Laboratoire de Biochimie, Hôpital Conception, Marseille, France;

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http://dx.doi.org/10.1182/blood-2015-04-642496DOI Listing
September 2015

Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing.

J Neurol Neurosurg Psychiatry 2016 Mar 17;87(3):340-2. Epub 2015 Mar 17.

APHM, Department of Neurology, Neuromuscular and ALS Reference Center, La Timone University Hospital, Marseille, France Aix Marseille Université, INSERM, GMGF, Marseille, France.

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http://dx.doi.org/10.1136/jnnp-2014-309663DOI Listing
March 2016

Rare inherited disorders with renal involvement-approach to the patient.

Kidney Int 2015 May 4;87(5):901-8. Epub 2015 Feb 4.

Service de Néphrologie, Université Paris-Descartes, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.

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https://linkinghub.elsevier.com/retrieve/pii/S00852538153010
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http://dx.doi.org/10.1038/ki.2014.432DOI Listing
May 2015

Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy.

Neurol India 2014 Nov-Dec;62(6):635-9

Aix Marseille University, GMGF, 13385; Inserm, UMR_S 910, 13385; Department of Medical Genetics and Cell Biology, APHM, Children's Hospital La Timone, 13385, Marseille, France.

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http://search.proquest.com/openview/e70fd22cb0c480c42d20ceb3
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http://dx.doi.org/10.4103/0028-3886.149386DOI Listing
March 2015

Genomic variations integrated database for MUTYH-associated adenomatous polyposis.

J Med Genet 2015 Jan 3;52(1):25-7. Epub 2014 Nov 3.

INSERM UMR_S910, Marseille, France Departments of medical Genetics and Gastroenterology, AP-HM La Timone, Marseille, France Gastroenterology Department, European Hospital, Marseille, France Oncology Department, Clairval Hospital, Marseille, France The first two authors contributed equally to this work.

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http://dx.doi.org/10.1136/jmedgenet-2014-102752DOI Listing
January 2015

Identification of splicing defects caused by mutations in the dysferlin gene.

Hum Mutat 2014 Dec;35(12):1532-41

Aix Marseille Université, GMGF, Marseille, 13385, France; Inserm, UMR_S 910, Marseille, 13385, France.

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http://dx.doi.org/10.1002/humu.22710DOI Listing
December 2014

The UMD-APC database, a model of nation-wide knowledge base: update with data from 3,581 variations.

Hum Mutat 2014 May 7;35(5):532-6. Epub 2014 Apr 7.

UMR_S910, INSERM, Marseille, France; AP-HM La Timone, Gastroenterology Department, Marseille, France.

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http://dx.doi.org/10.1002/humu.22539DOI Listing
May 2014

Correction: Dispelling myths about rare disease registry system development.

Source Code Biol Med 2014 Jan 31;9(1). Epub 2014 Jan 31.

Centre for Comparative Genomics, Murdoch University, Perth 6150, Western Australia.

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http://dx.doi.org/10.1186/1751-0473-9-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3917533PMC
January 2014

Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe.

J Neurol 2014 Jan 27;261(1):152-63. Epub 2013 Oct 27.

MRC Centre for Neuromuscular Diseases at Newcastle, Institute of Genetic Medicine, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK,

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http://link.springer.com/content/pdf/10.1007%2Fs00415-013-71
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http://www.rare-diseases.eu/wp-content/uploads/2013/08/41_t2
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http://link.springer.com/10.1007/s00415-013-7154-1
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http://dx.doi.org/10.1007/s00415-013-7154-1DOI Listing
January 2014

Dispelling myths about rare disease registry system development.

Source Code Biol Med 2013 Oct 16;8(1):21. Epub 2013 Oct 16.

Centre for Comparative Genomics, Murdoch University, Perth 6150, Western Australia.

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http://dx.doi.org/10.1186/1751-0473-8-21DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4015362PMC
October 2013

Surgical management of patients with Marfan syndrome: evolution throughout the years.

Arch Cardiovasc Dis 2012 Feb 22;105(2):84-90. Epub 2012 Feb 22.

Service de cardiologie, centre de référence pour les syndromes de Marfan et apparentés, hôpital Bichat, Paris, France.

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http://dx.doi.org/10.1016/j.acvd.2012.01.001DOI Listing
February 2012

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Hum Mutat 2012 Jun 4;33(6):949-59. Epub 2012 Apr 4.

Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U964/CNRS UMR7104, University of Strasbourg, Collège de France, Illkirch, France.

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http://dx.doi.org/10.1002/humu.22067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3374402PMC
June 2012

Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases.

Nucleic Acids Res 2012 Jan 5;40(Database issue):D992-1002. Epub 2011 Dec 5.

Institut Curie-Hôpital René Huguenin, Service d'Oncogénétique, U735 INSERM-Saint-Cloud, France.

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http://dx.doi.org/10.1093/nar/gkr1160DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3245050PMC
January 2012

Aortic event rate in the Marfan population: a cohort study.

Circulation 2012 Jan 1;125(2):226-32. Epub 2011 Dec 1.

Centre de Référence pour le Syndrome de Marfan et Apparentés, Hôpital Bichat, 75018 Paris, France.

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http://dx.doi.org/10.1161/CIRCULATIONAHA.111.054676DOI Listing
January 2012

UMD-CFTR: a database dedicated to CF and CFTR-related disorders.

Hum Mutat 2010 Sep;31(9):1011-9

CHU Montpellier, Hôpital Arnaud de Villeneuve, Laboratoire de Génétique Moléculaire, Montpellier, F-34000 France.

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http://dx.doi.org/10.1002/humu.21316DOI Listing
September 2010

MUT-TP53 2.0: a novel versatile matrix for statistical analysis of TP53 mutations in human cancer.

Hum Mutat 2010 Sep;31(9):1020-5

Karolinska Institute Department of Oncology-Pathology Cancer Center Karolinska, Stockholm, Sweden.

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http://doi.wiley.com/10.1002/humu.21313
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http://dx.doi.org/10.1002/humu.21313DOI Listing
September 2010

157th ENMC International Workshop: patient registries for rare, inherited muscular disorders 25-27 January 2008 Naarden, The Netherlands.

Neuromuscul Disord 2008 Dec 22;18(12):997-1001. Epub 2008 Oct 22.

Institute of Human Genetics, University of Newcastle, TREAT-NMD Office, Newcastle upon Tyne NE1 3BZ, UK.

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http://dx.doi.org/10.1016/j.nmd.2008.07.006DOI Listing
December 2008

Trichloroethylene exposure and somatic mutations of the VHL gene in patients with Renal Cell Carcinoma.

J Occup Med Toxicol 2007 Nov 12;2:13. Epub 2007 Nov 12.

Laboratoire de Génétique Oncologique EPHE, Faculté de Médecine Paris-Sud, Le Kremlin-Bicêtre 94275 Le Kremlin-Bicêtre Cedex, France.

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http://dx.doi.org/10.1186/1745-6673-2-13DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2211482PMC
November 2007

Locus-specific mutation databases: pitfalls and good practice based on the p53 experience.

Nat Rev Cancer 2006 01;6(1):83-90

Université P.M. Curie, 4 place Jussieu, 75005 Paris, France.

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http://dx.doi.org/10.1038/nrc1783DOI Listing
January 2006

The UMD TP53 database and website: update and revisions.

Hum Mutat 2006 Jan;27(1):14-20

Laboratoire de Génétique Moléculaire et Chromosomique, Institut Universitaire de Recherche Clinique et CHU, CNRS UPR 1142, Montpellier, France.

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http://dx.doi.org/10.1002/humu.20269DOI Listing
January 2006

UMD (Universal Mutation Database): 2005 update.

Hum Mutat 2005 Sep;26(3):184-91

Laboratoire de Génétique Moléculaire, IURC, Montpellier, France.

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http://doi.wiley.com/10.1002/humu.20210
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http://dx.doi.org/10.1002/humu.20210DOI Listing
September 2005

Impact of cytomorphological detection of circulating tumor cells in patients with liver cancer.

Hepatology 2004 Mar;39(3):792-7

Pasteur/INSERM Unit 370, Faculté de Médecine Necker-Enfants Malades, 156 rue de Vaugirard, 75739 Paris cedex 15, France.

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http://dx.doi.org/10.1002/hep.20091DOI Listing
March 2004

Significance of TP53 mutations in human cancer: a critical analysis of mutations at CpG dinucleotides.

Hum Mutat 2003 Mar;21(3):192-200

Institut Curie and Université P. & M. Curie, EA3493, Laboratoire de Génotoxicologie des Tumeurs, Paris, France.

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http://dx.doi.org/10.1002/humu.10189DOI Listing
March 2003

The UMD-p53 database: new mutations and analysis tools.

Hum Mutat 2003 Mar;21(3):176-81

Laboratoire de Génétique Moléculaire, CHU de Montpellier, Institut Universitaire de Recherche Clinique, Montpellier Cedex, France.

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http://doi.wiley.com/10.1002/humu.10187
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http://dx.doi.org/10.1002/humu.10187DOI Listing
March 2003

Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study.

Invest Ophthalmol Vis Sci 2002 Sep;43(9):3067-74

Fédération de Génétique, Ophthalmology Department, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.

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September 2002