Mireille Claustres

Mireille Claustres

UNVERIFIED PROFILE

Are you Mireille Claustres?   Register this Author

Register author
Mireille Claustres

Mireille Claustres

Publications by authors named "Mireille Claustres"

Are you Mireille Claustres?   Register this Author

100Publications

3468Reads

25Profile Views

A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes.

J Mol Diagn 2018 07 21;20(4):533-549. Epub 2018 May 21.

Molecular Diagnostic Laboratory, Centre Hospitalier Universitaire Montpellier, Montpellier, France; AOC (Atlantique-Occitanie-Caraïbe) Reference Center for Neuromuscular Disorders, Aquitaine, France; Rare Diseases Genetics Laboratory, Equipe Accueil EA7402, Université de Montpellier, Montpellier, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jmoldx.2018.04.001DOI Listing
July 2018

Identification of Splicing Factors Involved in DMD Exon Skipping Events Using an In Vitro RNA Binding Assay.

Methods Mol Biol 2018 ;1687:157-169

Laboratoire de Génétique de Maladies Rares (LGMR), EA7402, Université de Montpellier, Montpellier, 34000, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/978-1-4939-7374-3_11DOI Listing
June 2018

Current and future molecular approaches in the diagnosis of cystic fibrosis.

Expert Rev Respir Med 2018 05 19;12(5):415-426. Epub 2018 Apr 19.

a Laboratoire de Génétique Moléculaire , Centre Hospitalier Universitaire de Montpellier , Montpellier , France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/17476348.2018.1457438DOI Listing
May 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:

View Article

Download full-text PDF

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

Normal and altered pre-mRNA processing in the DMD gene.

Hum Genet 2017 09 9;136(9):1155-1172. Epub 2017 Jun 9.

Laboratoire de Génétique de Maladies Rares (LGMR, EA7402), University of Montpellier, Institut Universitaire de Recherche Clinique (IURC), 641 av du Doyen G. Giraud, Montpellier, Cedex 5, 34093, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-017-1820-9DOI Listing
September 2017

The HDAC inhibitor SAHA does not rescue CFTR membrane expression in Cystic Fibrosis.

Int J Biochem Cell Biol 2017 07 3;88:124-132. Epub 2017 May 3.

Respiratory Disease Department - CHU Montpellier, Montpellier F-34295, France; PhyMedExp, University of Montpellier, INSERM U1046, CNRS UMR 9214, Montpellier F-34295, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.biocel.2017.05.002DOI Listing
July 2017

Implementation of a Reliable Next-Generation Sequencing Strategy for Molecular Diagnosis of Dystrophinopathies.

J Mol Diagn 2016 09 16;18(5):731-740. Epub 2016 Jul 16.

Molecular Genetic Laboratory, Centre Hospitalier Universitaire, Montpellier, France; Rare Disease Genetics Laboratory, Université Montpellier, Montpellier, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jmoldx.2016.05.003DOI Listing
September 2016

Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia.

J Neurol 2016 Aug 26;263(8):1552-8. Epub 2016 May 26.

Laboratoire de Génétique de Maladies Rares, Institut Universitaire de Recherche Clinique, EA7402, Université de Montpellier, CHU Montpellier, 641 Avenue du Doyen Gaston Giraud, 34093, Montpellier Cedex 5, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00415-016-8167-3DOI Listing
August 2016

A false positive newborn screening result due to a complex allele carrying two frequent CF-causing variants.

J Cyst Fibros 2016 05 23;15(3):309-12. Epub 2016 Apr 23.

Laboratoire de Génétique Moléculaire, CHRU Montpellier, 34093 Montpellier Cedex 5, France; Laboratoire de Génétique de Maladies Rares, Institut Universitaire de Recherche Clinique, EA 7402, Université de Montpellier, 34000 Montpellier Cedex 5, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jcf.2016.04.003DOI Listing
May 2016

Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations.

Hum Mutat 2016 Feb 23;37(2):184-93. Epub 2015 Nov 23.

Laboratoire de Génétique de Maladies Rares EA 7402, Université de Montpellier, Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22926DOI Listing
February 2016

Assessment of the latest NGS enrichment capture methods in clinical context.

Sci Rep 2016 Feb 11;6:20948. Epub 2016 Feb 11.

Laboratoire de génétique de maladies rares, EA 7402, Université de Montpellier, Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/srep20948DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4750071PMC
February 2016

Nasal epithelial cells: a tool to study DNA methylation in airway diseases.

Epigenomics 2015 ;7(1):119-26

Laboratory Genetics of Rare Diseases, INSERM U827, Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2217/epi.14.65DOI Listing
September 2015

Should diffuse bronchiectasis still be considered a CFTR-related disorder?

J Cyst Fibros 2015 Sep 18;14(5):646-53. Epub 2015 Mar 18.

INSERM U827, Laboratoire de Génétique de Maladies Rares, Montpellier F-34093, France; Université Montpellier I, UFR de Médecine, Montpellier F-34000, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jcf.2015.02.012DOI Listing
September 2015

Becker muscular dystrophy severity is linked to the structure of dystrophin.

Hum Mol Genet 2015 Mar 27;24(5):1267-79. Epub 2014 Oct 27.

Université de Rennes 1, Avenue du Professeur Léon Bernard, 35043 Rennes, France, CNRS UMR 6290, Institut de Génétique et Développement de Rennes, 35043 Rennes, France,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddu537DOI Listing
March 2015

Comprehensive CFTR gene analysis of the French cystic fibrosis screened newborn cohort: implications for diagnosis, genetic counseling, and mutation-specific therapy.

Genet Med 2015 Feb 14;17(2):108-16. Epub 2014 Aug 14.

1] Laboratoire de Génétique Moléculaire, IURC, CHU de Montpellier, Montpellier, France [2] INSERM U827, Laboratoire de Génétique des Maladies Rares, Montpellier, France [3] Université Montpellier 1, UFR de Médecine, Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2014.113DOI Listing
February 2015

FUBP1: a new protagonist in splicing regulation of the DMD gene.

Nucleic Acids Res 2015 Feb 6;43(4):2378-89. Epub 2015 Feb 6.

Université Montpellier, UFR de Médecine, Montpellier F-34000, France Inserm U827, Laboratoire de Génétique de Maladies Rares, F-34000 Montpellier, France

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/nar/gkv086DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4344520PMC
February 2015

Transcription factors and miRNAs that regulate fetal to adult CFTR expression change are new targets for cystic fibrosis.

Eur Respir J 2015 Jan 3;45(1):116-28. Epub 2014 Sep 3.

INSERM U827, Laboratoire de Génétique de Maladies Rares, Montpellier, France Université Montpellier I, UFR de Médecine, Montpellier, France

View Article

Download full-text PDF

Source
http://erj.ersjournals.com/content/erj/45/1/116.full.pdf
Web Search
http://erj.ersjournals.com/cgi/doi/10.1183/09031936.00113214
Publisher Site
http://dx.doi.org/10.1183/09031936.00113214DOI Listing
January 2015

Mutation of SLC9A1, encoding the major Na⁺/H⁺ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome.

Hum Mol Genet 2015 Jan 8;24(2):463-70. Epub 2014 Sep 8.

INSERM U827, Montpellier F-34000, France Université Montpellier I, Montpellier F-34000, France Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire (CHU) Montpellier, Montpellier F-34000, France Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U964/CNRS UMR7104/Université de Strasbourg, Illkirch, France

View Article

Download full-text PDF

Source
http://hmg.oxfordjournals.org/content/early/2014/09/08/hmg.d
Web Search
http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddu461
Publisher Site
http://dx.doi.org/10.1093/hmg/ddu461DOI Listing
January 2015

Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic).

Eur J Hum Genet 2014 Feb 14;22(2):160-70. Epub 2013 Aug 14.

National Centre for Medical Genetics, School of Medicine & Medical Sciences, University College Dublin, Our Lady's Children's Hospital, Dublin, Ireland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2013.125DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3895644PMC
February 2014

Experience of targeted Usher exome sequencing as a clinical test.

Mol Genet Genomic Med 2014 Jan 10;2(1):30-43. Epub 2013 Jul 10.

U827, Inserm Montpellier, F-34000, France ; Laboratoire de Génétique Moléculaire, CHU Montpellier Montpellier, F-34000, France.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/mgg3.25
Publisher Site
http://dx.doi.org/10.1002/mgg3.25DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3907913PMC
January 2014

Phosphorylated C/EBPβ influences a complex network involving YY1 and USF2 in lung epithelial cells.

PLoS One 2013 1;8(4):e60211. Epub 2013 Apr 1.

UFR de Médecine, Université Montpellier1, Montpellier, France ; INSERM U827, Laboratoire de Génétique de Maladies Rares, Montpellier, France.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0060211PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3613372PMC
September 2013

A classification model relative to splicing for variants of unknown clinical significance: application to the CFTR gene.

Hum Mutat 2013 May 5;34(5):774-84. Epub 2013 Apr 5.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22291DOI Listing
May 2013

Lethal factor VII deficiency due to novel mutations in the F7 promoter: functional analysis reveals disruption of HNF4 binding site.

Thromb Haemost 2012 Aug 25;108(2):277-83. Epub 2012 May 25.

CHU Montpellier, Laboratoire de Génétique Moléculaire, Montpellier, 641 Avenue du Doyen Gaston Giraud, 34095 Montpellier Cedex 5, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1160/TH11-09-0638DOI Listing
August 2012

Functional analysis of a promoter variant identified in the CFTR gene in cis of a frameshift mutation.

Eur J Hum Genet 2012 Feb 17;20(2):180-4. Epub 2011 Aug 17.

INSERM U827, Laboratoire de Génétique de Maladies Rares, Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2011.161DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3260914PMC
February 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.

View Article

Download full-text PDF

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

NF-E2-related factor 2, a key inducer of antioxidant defenses, negatively regulates the CFTR transcription.

Cell Mol Life Sci 2010 Jul 23;67(13):2297-309. Epub 2010 Mar 23.

INSERM U827, 34000, Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00018-010-0336-4DOI Listing
July 2010

A novel double deletion underscores the importance of characterizing end points of the CFTR large rearrangements.

Eur J Hum Genet 2009 Dec 13;17(12):1683-7. Epub 2009 May 13.

Université Montpellier1, UFR de Médecine, Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2009.73DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987017PMC
December 2009

Cystic fibrosis transmembrane conductance regulator mutation spectrum in patients with cystic fibrosis in Tunisia.

Genet Test Mol Biomarkers 2009 Oct;13(5):577-81

Laboratoire de Biochimie et Biologie Moléculaire, Hôpital d'Enfants de Tunis, Tunis, Tunisia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/gtmb.2009.0028DOI Listing
October 2009

Epigenetics in facioscapulohumeral muscular dystrophy (FSHD).

Hum Mutat 2009 Oct;30(10)

Institut Universitaire de Recherche Clinique, Montpellier.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.21124DOI Listing
October 2009

Planning the human variome project: the Spain report.

Authors:
Jim Kaput Richard G H Cotton Lauren Hardman Michael Watson Aida I Al Aqeel Jumana Y Al-Aama Fahd Al-Mulla Santos Alonso Stefan Aretz Arleen D Auerbach Bharati Bapat Inge T Bernstein Jong Bhak Stacey L Bleoo Helmut Blöcker Steven E Brenner John Burn Mariona Bustamante Rita Calzone Anne Cambon-Thomsen Michele Cargill Paola Carrera Lawrence Cavedon Yoon Shin Cho Yeun-Jun Chung Mireille Claustres Garry Cutting Raymond Dalgleish Johan T den Dunnen Carlos Díaz Steven Dobrowolski M Rosário N dos Santos Rosemary Ekong Simon B Flanagan Paul Flicek Yoichi Furukawa Maurizio Genuardi Ho Ghang Maria V Golubenko Marc S Greenblatt Ada Hamosh John M Hancock Ross Hardison Terence M Harrison Robert Hoffmann Rania Horaitis Heather J Howard Carol Isaacson Barash Neskuts Izagirre Jongsun Jung Toshio Kojima Sandrine Laradi Yeon-Su Lee Jong-Young Lee Vera L Gil-da-Silva-Lopes Finlay A Macrae Donna Maglott Makia J Marafie Steven G E Marsh Yoichi Matsubara Ludwine M Messiaen Gabriela Möslein Mihai G Netea Melissa L Norton Peter J Oefner William S Oetting James C O'Leary Ana Maria Oller de Ramirez Mark H Paalman Jillian Parboosingh George P Patrinos Giuditta Perozzi Ian R Phillips Sue Povey Suyash Prasad Ming Qi David J Quin Rajkumar S Ramesar C Sue Richards Judith Savige Dagmar G Scheible Rodney J Scott Daniela Seminara Elizabeth A Shephard Rolf H Sijmons Timothy D Smith María-Jesús Sobrido Toshihiro Tanaka Sean V Tavtigian Graham R Taylor Jon Teague Thoralf Töpel Mollie Ullman-Cullere Joji Utsunomiya Henk J van Kranen Mauno Vihinen Elizabeth Webb Thomas K Weber Meredith Yeager Young I Yeom Seon-Hee Yim Hyang-Sook Yoo

Hum Mutat 2009 Apr;30(4):496-510

Division of Personalised Nutrition and Medicine, FDA/National Center for Toxicological Research, Jefferson, Arkansas 72079, USA.

View Article

Download full-text PDF

Source
http://compbio.berkeley.edu/people/brenner/pubs/kaput-2009-h
Web Search
http://doi.wiley.com/10.1002/humu.20972
Publisher Site
http://dx.doi.org/10.1002/humu.20972DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5879779PMC
April 2009