Mireille Claustres : rechercher sur Z-Library

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1

CFTR -France, a national relational patient-database for sharing genetic and phenotypic data associated with rare CFTR variants a

Claustres, Mireille, Theze, Corinne, des Georges, Marie, Baux, David, Girodon, Emmanuelle, Bienvenu, Thierry, Audrezet, Marie-Pierre, Dugueperoux, Ingrid, Ferec, Claude, Lalau, Guy, Pagin, Adrien, Kit

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 1.74 MB

english, 2017

2

Nonsyndromic 35 delG Mutation of the Connexin 26 Gene Associated With Deafness in Syndromic Children: Two Case Reports

Frédéric Venail, Anne-Françoise Roux, Nathalie Pallares-Ruiz, Mireille Claustres, Patricia Blanchet, Quentin Gardiner, Michel Mondain

Journal:

The Laryngoscope

Année:

2004

Langue:

english

Fichier:

PDF, 89 KB

english, 2004

3

Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in Southern France

Claustres, Mireille, Laussel, Maguelone, Desgeorges, Marie, Giansily, Muriel, Culard, Jean-Françols, Razakatsara, Gaby, Demaille, Jacques

Journal:

Human Molecular Genetics

Année:

1993

Langue:

english

Fichier:

PDF, 4.03 MB

english, 1993

4

The UMD TP53 database and website: update and revisions

Dalil Hamroun, Shunsuke Kato, Chikashi Ishioka, Mireille Claustres, Christophe Béroud, Thierry Soussi

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 346 KB

english, 2006

5

A Classification Model Relative to Splicing for Variants of Unknown Clinical Significance: Application to the CFTR Gene

Raynal, Caroline, Baux, David, Theze, Corinne, Bareil, Corinne, Taulan, Magali, Roux, Anne-Françoise, Claustres, Mireille, Tuffery-Giraud, Sylvie, des Georges, Marie

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 492 KB

english, 2013

6

Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation

Slijkerman, Radulfus WN, Vaché, Christel, Dona, Margo, García-García, Gema, Claustres, Mireille, Hetterschijt, Lisette, Peters, Theo A, Hartel, Bas P, Pennings, Ronald JE, Millan, José M, Aller, Elena

Journal:

Molecular Therapy — Nucleic Acids

Année:

2016

Langue:

english

Fichier:

PDF, 1.20 MB

english, 2016

7

SSCP analysis: A blind sensitivity trial

Albena Jordanova, Luba Kalaydjieva, Alexey Savov, Mireille Claustres, Martin Schwarz, Xavier Estivill, Dora Angelicheva, Andrea Haworth, Teresa Casals, Ivo Kremensky

Journal:

Année:

1997

Langue:

english

Fichier:

PDF, 118 KB

english, 1997

8

Protein truncation test: Detection of severe haemophilia A mutation and analysis of factor VIII transcripts

Claude Maugard, Sylvie Tuffery, Patricia Aguilar-Martinez, Jean-François Schved, Jean-Christophe Gris, Jacques Demaille, Mireille Claustres

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 163 KB

english, 1998

9

Genetic findings in congenital bilateral aplasia of vas deferens patients and identification of six novel mutations

Anne de Meeus, Caroline Guittard, Marie Desgeorges, Soukeyna Carles, Jacques Demaille, Mireille Claustres

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 60 KB

english, 1998

10

Point mutations in the dystrophin gene: Evidence for frequent use of cryptic splice sites as a result of splicing defects

Sylvie Tuffery-Giraud, Sylvie Chambert, Jacques Demaille, Mireille Claustres

Journal:

Année:

1999

Langue:

english

Fichier:

PDF, 363 KB

english, 1999

11

W179R: A novel missense mutation in the peripherin/RDS gene in a family with autosomal dominant retinitis pigmentosa

Corinne Bareil, Valérie Delague, Bernard Arnaud, Jacques Demaille, Christian Hamel, Mireille Claustres

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 12 KB

english, 2000

12

Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France

Mireille Claustres, Caroline Guittard, Dominique Bozon, Françoise Chevalier, Claudine Verlingue, Claude Ferec, Emanuelle Girodon, Cécile Cazeneuve, Thierry Bienvenu, Guy Lalau, Viviane Dumur, Delphine

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 532 KB

english, 2000

13

Nonprogressive autosomal recessive ataxia maps to chromosome 9q34-9qter in a large consanguineous lebanese family

Valérie Delague, Corinne Bareil, Patrice Bouvagnet, Nabiha Salem, Eliane Chouery, Jacques Loiselet, André Mégarbané, Mireille Claustres

Journal:

Annals of Neurology

Année:

2001

Langue:

english

Fichier:

PDF, 823 KB

english, 2001

14

Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy

Sylvie Tuffery-Giraud, Céline Saquet, Sylvie Chambert, Mireille Claustres

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 6.17 MB

english, 2003

15

A new intragenic polymorphism detected by the single-strand conformation polymorphism (SSCP) assay in the dystrophin gene

Sylvie Tuffery, Jacques Demaille, Mireille Claustres

Journal:

Année:

1992

Langue:

english

Fichier:

PDF, 216 KB

english, 1992

16

Screening for cystic fibrosis mutations in Southern France: Identification of a frameshift mutation and two missense variations

Mireille Claustres, Bernard Gerrard, Paule Kjellberg, Marie Desgeorges, Jacques Demaille, Michael Dean

Journal:

Année:

1992

Langue:

english

Fichier:

PDF, 366 KB

english, 1992

17

Base substitutions in the human dystrophin gene: Detection by using the single-strand conformation polymorphism (SSCP) technique

Sylvie Tuffery, Philippe Moine, Jacques Demaille, Mireille Claustres

Journal:

Année:

1993

Langue:

english

Fichier:

PDF, 658 KB

english, 1993

18

A novel mutation (Val-373 to Glu) in the catalytic domain of factor IX, resulting in moderately/severe hemophilia B in a Southern French patient

Patricia Aguilar-Martinez, Marie-Catherine Romey, Jean-Christophe Gris, Jean-François Schved, Jacques Demaille, Mireille Claustres

Journal:

Année:

1994

Langue:

english

Fichier:

PDF, 299 KB

english, 1994

19

Protein truncation test: Analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation

Sylvie Tuffery, Uwe Lenk, Roland G. Roberts, Christine Coubes, Jacques Demaille, Mireille Claustres

Journal:

Année:

1995

Langue:

english

Fichier:

PDF, 947 KB

english, 1995

20

Novel missense mutation in the first transmembrane segment of the CFTR gene (Q98R) identified in a male adult

Marie-Catherine Romey, Marie Desgeorges, Patrice Ray, Philippe Godard, Jacques Demaille, Mireille Claustres

Journal:

Année:

1995

Langue:

english

Fichier:

PDF, 174 KB

english, 1995

21

A novel mutation in the CFTR gene: I506T in exon 10

Marie Desgeorges, Marie-Catherine Romey, Christine Coubes, Jacques Demaille, Mireille Claustres

Journal:

Année:

1995

Langue:

english

Fichier:

PDF, 70 KB

english, 1995

22

A novel mutation (S558X) causing choroideremia

Laurent Beaufère, Sylvie Tuffery, Christian Hamel, Bernard Amaud, Jacques Demaille, Mireille Claustres

Journal:

Année:

1996

Langue:

english

Fichier:

PDF, 112 KB

english, 1996

23

A T3 allele in the CFTR gene exacerbates exon 9 skipping in vas deferens and epididymal cell lines and is associated with Congenital Bilateral Absence of Vas Deferens (CBAVD)

Antoine Disset, Carine Michot, Ann Harris, Emanuele Buratti, Mireille Claustres, Sylvie Tuffery-Giraud

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 425 KB

english, 2005

24

UMD (Universal Mutation Database): 2005 update

Christophe Béroud, Dalil Hamroun, Gwenaëlle Collod-Béroud, Catherine Boileau, Thierry Soussi, Mireille Claustres

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 367 KB

english, 2005

25

A new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD-TGFBR2

Melissa Yana Frederic, Dalil Hamroun, Laurence Faivre, Catherine Boileau, Guillaume Jondeau, Mireille Claustres, Christophe Béroud, Gwenaëlle Collod-Béroud

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 476 KB

english, 2008

26

UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes

David Baux, Valérie Faugère, Lise Larrieu, Sandie Le Guédard-Méreuze, Dalil Hamroun, Christophe Béroud, Sue Malcolm, Mireille Claustres, Anne-Françoise Roux

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 270 KB

english, 2008

27

Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders

Chantal Stheneur, Gwenaëlle Collod-Béroud, Laurence Faivre, Laurent Gouya, Gilles Sultan, Jean-Marie Le Parc, Bertrand Moura, David Attias, Christine Muti, Marc Sznajder, Mireille Claustres, Claudine

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 421 KB

english, 2008

28

UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity—application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2

Mélissa Yana Frédéric, Marine Lalande, Catherine Boileau, Dalil Hamroun, Mireille Claustres, Christophe Béroud, Gwenaëlle Collod-Béroud

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 225 KB

english, 2009

29

Sequence contexts that determine the pathogenicity of base substitutions at position +3 of donor splice-sites

Sandie Le Guédard-Méreuze, Christel Vaché, Nicolas Molinari, Julie Vaudaine, Mireille Claustres, Anne-Françoise Roux, Sylvie Tuffery-Giraud

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 521 KB

english, 2009

30

Epigenetics in facioscapulohumeral muscular dystrophy (FSHD)

Mireille Claustres

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 64 KB

english, 2009

31

Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes

Sandie Le Guédard-Méreuze, Christel Vaché, David Baux, Valérie Faugère, Lise Larrieu, Caroline Abadie, Andreas Janecke, Mireille Claustres, Anne-Françoise Roux, Sylvie Tuffery-Giraud

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 311 KB

english, 2010

32

Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome

Christel Vaché, Thomas Besnard, Catherine Blanchet, David Baux, Lise Larrieu, Valérie Faugère, Michel Mondain, Christian Hamel, Sue Malcolm, Mireille Claustres, Anne-Françoise Roux

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 431 KB

english, 2010

33

UMD-CFTR: A database dedicated to CF and CFTR-related disorders

Corinne Bareil, Corinne Thèze, Christophe Béroud, Dalil Hamroun, Caroline Guittard, Céline René, Damien Paulet, Marie des Georges, Mireille Claustres

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 616 KB

english, 2010

34

Pure intronic rearrangements leading to aberrant pseudoexon inclusion in dystrophinopathy: a new class of mutations?

Mouna Messaoud Khelifi, Aliya Ishmukhametova, Philippe Khau Van Kien, Delphine Thorel, Déborah Méchin, Serge Perelman, Jean Pouget, Mireille Claustres, Sylvie Tuffery-Giraud

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 275 KB

english, 2011

35

DYT6 dystonia: Review of the literature and creation of the UMD locus-specific database (LSDB) for mutations in the THAP1 gene

Arnaud Blanchard, Vuthy Ea, Agathe Roubertie, Mélanie Martin, Coline Coquart, Mireille Claustres, Christophe Béroud, Gwenaëlle Collod-Béroud

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 258 KB

english, 2011

36

CFTR genotypes in patients with normal or borderline sweat chloride levels

Delphine Feldmann, Remy Couderc, Marie-Pierre Audrezet, Claude Ferec, Thierry Bienvenu, Marie Desgeorges, Mireille Claustres, Hervé Mittre, Martine Blayau, Dominique Bozon, Marie-Claire Malinge, Nicol

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 40 KB

english, 2003

37

First determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a Mediterranean population

Mélissa Frédéric, Estelle Lucarz, Christine Monino, Céline Saquet, Delphine Thorel, Mireille Claustres, Tuffery-Giraud Sylvie, Collod-Béroud Gwenaelle

Journal:

Movement Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 203 KB

english, 2007

38

Long-term follow-up of DYT1 dystonia patients treated by deep brain stimulation: An open-label study

Laura Cif, Xavier Vasques, Victoria Gonzalez, Patrice Ravel, Brigitte Biolsi, Gwenaelle Collod-Beroud, Sylvie Tuffery-Giraud, Hassan Elfertit, Mireille Claustres, Philippe Coubes

Journal:

Movement Disorders

Année:

2010

Langue:

english

Fichier:

PDF, 293 KB

english, 2010

39

Recurrent PIG-A mutation (IVS5+1G→A) in a paediatric case of paroxysmal nocturnal haemoglobinuria: detection by the protein truncation test

Claude Maugard, Geneviève Margueritte, Sylvie Tuffery, Heri Rabesandratana, Jacques Demaille, Mireille Claustres

Journal:

British Journal of Haematology

Année:

1997

Langue:

english

Fichier:

PDF, 355 KB

english, 1997

40

Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay

Valérie Faugère, Sylvie Tuffery-Giraud, Christian Hamel, Mireille Claustres

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 699 KB

english, 2003

41

First molecular screening of deafness in the Altai Republic population

Olga Posukh, Nathalie Pallares-Ruiz, Vera Tadinova, Ludmila Osipova, Mireille Claustres, Anne-Françoise Roux

Journal:

BMC Medical Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 530 KB

english, 2005

42

Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations ?

Mireille Claustres, Jean-Pierre Altiéri, Caroline Guittard, Carine Templin, Françoise Chevalier-Porst, Marie Des Georges

Journal:

BMC Medical Genetics

Année:

2004

Langue:

english

Fichier:

PDF, 504 KB

english, 2004

43

Large genomic rearrangements in theCFTRgene contribute to CBAVD

Magali Taulan, Anne Girardet, Caroline Guittard, Jean-Pierre Altieri, Carine Templin, Christophe Beroud, Marie des Georges, Mireille Claustres

Journal:

BMC Medical Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 959 KB

english, 2007

44

Prenatal diagnosis for cystic fibrosis using SSCP analysis

Marie Desgeorges, Pierre Boulot, Paule Kjellberg, Geneviève Lefort, Michel Rolland, Jacques Demaille, Dr Mireille Claustres

Journal:

Prenatal Diagnosis

Année:

1993

Langue:

english

Fichier:

PDF, 172 KB

english, 1993

45

Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study

Anthonie J. Essen, Stephen Abbs, Montserrat Baiget, Egbert Bakker, Catherine Boileau, Christine Broeckhoven, Kate Bushby, Angus Clarke, Mireille Claustres, Angela E. Covone, Maurizio Ferrari, Alessand

Journal:

Année:

1992

Langue:

english

Fichier:

PDF, 903 KB

english, 1992

46

Germinal mosaicism from grand-paternal origin in a family with Duchenne muscular dystrophy

Mireille Claustres, Paule Kjellberg, Marie Desgeorges, Hélène Bellet, Jacques Demaille

Journal:

Année:

1990

Langue:

english

Fichier:

PDF, 216 KB

english, 1990

47

Analysis of the whole CFTR coding regions and splice junctions in azoospermic men with congenital bilateral aplasia of epididymis or vas deferens

Jean-Francois Culard, Marie Desgeorges, Pierre Costa, Maguelone Laussel, Gaby Razakatzara, Henri Navratil, Jacques Demaille, Mireille Claustres

Journal:

Année:

1994

Langue:

english

Fichier:

PDF, 304 KB

english, 1994

48

Molecular deletion patterns in families from southern France with Duchenne/Becker muscular dystrophies

Mireille Claustres, Sylvie Tuffery, Marie-Pierre Chevron, Marie-Pierre Jozelon, Patricia Martinez, Bernard Echenne, Jacques Demaille

Journal:

Année:

1991

Langue:

english

Fichier:

PDF, 679 KB

english, 1991

49

Factor IX gene mutations causing haemophilia B: comparison of SSC screening versus systematic DNA sequencing and diagnostic applications

Patricia Aguilar-Martinez, Marie-Catherine Romey, Jean-François Schved, Jean-Christophe Gris, Jacques Demaille, Mireille Claustres

Journal:

Année:

1994

Langue:

english

Fichier:

PDF, 420 KB

english, 1994

50

Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype

Marie Desgeorges, Michel Rodier, Michel Piot, Jacques Demaille, Mireille Claustres

Journal:

Année:

1995

Langue:

english

Fichier:

PDF, 318 KB

english, 1995