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Profile - MRGM, Rare diseases, genetic and metabolism

Benoit Arveiler - Université de Bordeaux - Centre Hospitalier Universitaire de Bordeaux

Professor

Birthdate : 18/03/1962
Professional status : PU-PH
Email address : benoit.arveiler@chu-bordeaux.fr
Website :

Major field of science : Génétique Moléculaire
CNU section : 47-04

Education :


Publications in scientific journals about MRGM projects

  • Marie-Laure Vuillaume, Naudion, S.; Banneau, G.; Diene G, Cartault A, Cailley D, Bouron J, Toutain J, Bourrouillou G, Vigouroux A, Bouneau L, Nacka F, Kieffer I, Benoit Arveiler, Anja Knoll-Gellida, Patrick J. Babin, Bieth E, Jouret B, Julia S, Sarda P, Geneviève D, Faivre L, Didier Lacombe, Barat P, Tauber M, Delrue MA, Caroline Rooryck-Thambo, (2014). New Candidate Loci Identified By Array-CGH in a Cohort of 100 Children Presenting With Syndromic Obesity American Journal of Medical Genetics Part A 164A, 1965-1975.
    DOI : 10.1002/ajmg.a.3658 , PDF, PubMed
    IF = 2.33
  • M Tajir, Patricia Fergelot, G Lancelot, SC Elalaoui, Benoit Arveiler, Didier Lacombe, A Sefiani. (2013). Germline mosaicism in Rubinstein-Taybi syndrome. Gene 518, 476-8.
    DOI : 10.1016/j.gene.2012.12.105. Epub 2013 Jan 23, PDF
    IF = 2.082
  • PY Vu, J Toutain, D Cappellen, MA Delrue, H Daoud, AA moneim, P Barat, O Montaubin, F Bonnet, ZQ Dai, C Philippe, CT Tran, Caroline Rooryck-Thambo, Benoit Arveiler, R Saura, S Briault, Didier Lacombe, L Taine. (2012). A homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly and ocular abnormalities) syndrome. Am J Med Genet A 158A, 2849-56.
    DOI : doi: 10.1002/ajmg.a.35694. Epub 2012 Oct 3, PDF
    IF = 2.048
  • Patricia Fergelot, Isabelle Coupry, Caroline Rooryck-Thambo, J Degorges, E Maurat, G Solé, O Boute, A Dieux-Coslier, A David, C Marchal, JB Thambo, Didier Lacombe, Benoit Arveiler, Cyril Goizet, (2012). Atypical male and female presentations of FLNA-related periventricular nodular heterotopia. Eur J Med Genet 55, 513-8.
    DOI : 10.1016/j.ejmg.2012.01.018. Epub 2012 Feb 8., PDF
    IF = 1.486
  • P Nurden, N Debili, Isabelle Coupry, M Bryckaert, I Marfak, G Solé, AC Pons, E Berrou, F Adam, A Klauskot, JM Daniel Lamazière, P Rameau, Patricia Fergelot, Caroline Rooryck-Thambo, D Cailley, Benoit Arveiler, Didier Lacombe, W Vainchenker, A Nurden, Cyril Goizet (2011). Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome. Blood 118, 5928-37.
    DOI : 10.1182/blood-2011-07-365601. Epub 2011 Sep 29., PDF
    IF = 9.775
  • Simon D, Laloo B, Barillot M, Barnetche T, Blanchard C, Caroline Rooryck-Thambo, Marche M, Burgelin I, Isabelle COUPRY, Chassaing N, Gilbert-Dussardier B, Didier Lacombe, Grosset C, Benoit Arveiler, (2010). A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia. Hum Mol Genet May 15;19(10), 2015-27.
    DOI : 10.1093/hmg/ddq083, PDF, PubMed
    IF = 6.677

Oral communications without acts in an international or national congress

  • Didier Lacombe, J van Gils, Isabelle Coupry, Caroline Rooryck-Thambo, J Desforges, G Lancelot, Benoit Arveiler, Patricia Fergelot, (2014). Phenotype-genotype correlations in Rubinstein-Taybi syndrome in 20 patients with EP300 gene mutations. . 25th European meeting on Dysmorphology. 10-12 september , Bischenberg.
  • Benoit Arveiler, (2014). Molecular genetics of patients with oculocutaneous albinism. . 25th European Meeting on Dysmorphology. 10-12 september, Strasbourg – Le Bischenberg, France.
  • Benoit Arveiler (2014). Diagnosis of albinism in France. . Second European Days of Albinism . 5-6 April, Valencia, Spain.
  • Julie Pilliod, Julie Lavie, Isabelle Coupry, E Maurat, M Anheim, M Barth, A Guichet, Caroline Rooryck-Thambo, Benoit Arveiler, S Forlani, F Lesne, F Mochel, K N’Guyen, G Lesca, A Brice, Didier Lacombe, G Stevanin, A Durr, Rodrigue Rossignol, Giovanni Benard, Cyril Goizet, (2013). Genetic and functional studies of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). SPATAX. 11-13 June, Paris, France.
  • Didier Lacombe, S Naudion, S Moutton, Mp Cordier, AL Delezoide, A Goldenberg, P Loget, J Melki, S Odent, S Patrier, A Verloes, G Viot, Benoit Arveiler, Patricia Fergelot, Cyril Goizet, (2013). Fetal phenotype of OPD spectrum disorders. . 24th European Meeting on Dysmorphology. 05-06 septembre , Bischenberg.
  • Julie Lavie, Julie Pilliod, Christelle Durand, A Durr, S Forlani, Patrick J. Babin, Angela Tingaud-Sequeira, Anja Knoll-Gellida, M André, Benoit Arveiler, Didier Lacombe, A Brice, G Stevanin, Isabelle Coupry, Cyril Goizet, (2012). Les mutations de CYP7B1/SPG5 dans les paraplégies spastiques héréditaires sporadiques. 6ème assises de génétique humaine et médicale. 2-4 février, Marseille. France.
  • Julie Pilliod, Julie Lavie, Isabelle Coupry, E Maurat, M Anheim, M Barth, A Guichet, Caroline Rooryck-Thambo, Benoit Arveiler, S Forlani, F Lesne, F Mochel, K N’Guyen, G Lesca, A Brice, Didier Lacombe, G Stevanin, A Durr, Rodrigue Rossignol, Giovanni Benard, Cyril Goizet, (2012). Genetic and functional studies of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Journée jeunes chercheurs SFR TransBioMed. 21 June, Bordeaux, France.
  • Benoit Arveiler, (2012). Next generation sequencing perspectives for the diagnosis of albinism. . First European Days of Albinism. 27-28 october, Paris, France.
  • Benoit Arveiler, (2012). Oculocutaneous albinism and syndromic forms of albinism - general considerations. . First European Days of Albinism. 27-28 october, Paris, France.
  • Benoit Arveiler (2012). Chondrodysplasie due à une surexpression du gène HDAC6. . Congrès des Sociétés Médico-Chirurgicales de Pédiatrie. 6-9 June, Bordeaux, France.
  • Benoit Arveiler, (2011). The genetics of oculocutaneous albinism. . International Pigment Cells Conference. 21-24 September, Bordeaux, France.
  • Benoit Arveiler, Didier Lacombe, (2010). A mutation in the 3'UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia. . European Human Genetics Conference. 12-15 June, Goteborg, Sweden.
  • Benoit Arveiler, Didier Lacombe, (2010). A mutation in the 3'UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia.. Human Genome Meeting 2010 (HUGO 2010). 18-21 May, Montpellier, France.
  • Benoit Arveiler, Didier Lacombe, (2010). A mutation in the 3'UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia.. 5èmes Assises de Génétique Humaine et Médicale, Strasbourg. 28-30 January, Strasbourg, France.

Communications by poster in an international or national congress

Conferences given after the invitation of the organisation committee in an international or national congress

  • Benoit Arveiler, (2014). Genotypes and Molecular Strategies in Albinism. . European Association for Vision and Eye Research (EVER). 1-4 october, Nice, France.
  • Benoit Arveiler, (2014). Normal pigment production. . European Association for Vision and Eye Research (EVER). 1-4 october, Nice, France.
  • Benoit Arveiler, (2014). Organisation des laboratoires de génétique moléculaire français et contexte européen.. Conférence EUROPLAN. . 13 january, Paris, France.

Organization of symposiums of international or national reach

  • Benoit Arveiler, Didier Lacombe, (2014). 7èmes Assises de Génétique Humaine et Médicale. 29-31 January, Bordeaux, France.
  • Benoit Arveiler, (2014). Second European Days of Albinism. 5-6 April, Valencia, Spain.
  • Benoit Arveiler, (2014). Symposium « Clinical & Molecular Aspects of Albinism », European Association for Vision and Eye Research (EVER) . 1-4 october, Nice, France.
  • Benoit Arveiler, (2012). 1st European Days of Albinism. 27-28 october, paris, France.

Main research contracts obtained

Thesis supervision

Activities linked to missions other than research

Responsable du Laboratoire de Génétique Moléculaire du CHU de Bordeaux (1992 - )

Membre du Bureau du Plateau Technique de Biologie Moléculaire (CHU de Bordeaux) (2004 - )

Membre du Bureau Exécutif du Pôle de Biologie du CHU de Bordeaux (2007 - )

Président de l’Association Nationale des Praticiens de Génétique Moléculaire (2013 - )

Membre du Groupe Permanant du Plan National Maladies Rares 2 (2013-)