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Mireille Claustres

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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Plancke Aurélie; Holder-Espinasse Muriel; Rigau Valérie; Manouvrier Sylvie; Claustres Mireille; Van Kien Philippe Khau
Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome.
Claustres Mireille
Epigenetics in facioscapulohumeral muscular dystrophy (FSHD).
Fredj Sondess Hadj; Messaoud Taïeb; Templin Carine; des Georges Marie; Fattoum Slaheddine; Claustres Mireille
Cystic fibrosis transmembrane conductance regulator mutation spectrum in patients with cystic fibrosis in Tunisia.

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All Publications

2009: Plancke Aurélie; Holder-Espinasse Muriel; Rigau Valérie; Manouvrier Sylvie; Claustres Mireille; Van Kien Philippe Khau
Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome.
European journal of human genetics : EJHG 2009;17(11):1411-6.
2009: Claustres Mireille
Epigenetics in facioscapulohumeral muscular dystrophy (FSHD).
Human mutation 2009;30(10):v.
2009: Fredj Sondess Hadj; Messaoud Taïeb; Templin Carine; des Georges Marie; Fattoum Slaheddine; Claustres Mireille
Cystic fibrosis transmembrane conductance regulator mutation spectrum in patients with cystic fibrosis in Tunisia.
Genetic testing and molecular biomarkers 2009;13(5):577-81.
2009: Guédard-Méreuze Sandie Le; Vaché Christel; Molinari Nicolas; Vaudaine Julie; Claustres Mireille; Roux Anne-Françoise; Tuffery-Giraud Sylvie
Sequence contexts that determine the pathogenicity of base substitutions at position +3 of donor splice-sites.
Human mutation 2009;30(9):1329-39.
2009: Stheneur Chantal; Collod-Béroud Gwenaëlle; Faivre Laurence; Buyck Jean François; Gouya Laurent; Le Parc Jean-Marie; Moura Bertrand; Muti Christine; Grandchamp Bernard; Sultan Gilles; Claustres Mireille; Aegerter Philippe; Chevallier Bertrand; Jondeau Guillaume; Boileau Catherine
Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.
European journal of human genetics : EJHG 2009;17(9):1121-8.
2009: Azad Abul Kalam; Rauh Robert; Vermeulen François; Jaspers Martine; Korbmacher Judit; Boissier Brigitte; Bassinet Laurence; Fichou Yann; des Georges Marie; Stanke Frauke; De Boeck Kris; Dupont Lieven; Balascáková Miroslava; Hjelte Lena; Lebecque Patrick; Radojkovic Dragica; Castellani Carlo; Schwartz Marianne; Stuhrmann Manfred; Schwarz Martin; Skalicka Veronika; de Monestrol Isabelle; Girodon Emmanuelle; Férec Claude; Claustres Mireille; Tümmler Burkhard; Cassiman Jean-Jacques; Korbmacher Christoph; Cuppens Harry
Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease.
Human mutation 2009;30(7):1093-103.
2009: Ammar-Khodja Fatima; Faugère Valérie; Baux David; Giannesini Claire; Léonard Susana; Makrelouf Mohamed; Malek Rahia; Djennaoui Djamel; Zenati Akila; Claustres Mireille; Roux Anne-Françoise
Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F.
European journal of medical genetics 2009;52(4):174-9.
2009: Frédéric Mélissa Yana; Lalande Marine; Boileau Catherine; Hamroun Dalil; Claustres Mireille; Béroud Christophe; Collod-Béroud Gwenaëlle
UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity -- application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2.
Human mutation 2009;30(6):952-9.
2009: Tuffery-Giraud Sylvie; Béroud Christophe; Leturcq France; Yaou Rabah Ben; Hamroun Dalil; Michel-Calemard Laurence; Moizard Marie-Pierre; Bernard Rafaëlle; Cossée Mireille; Boisseau Pierre; Blayau Martine; Creveaux Isabelle; Guiochon-Mantel Anne; de Martinville Bérengère; Philippe Christophe; Monnier Nicole; Bieth Eric; Khau Van Kien Philippe; Desmet François-Olivier; Humbertclaude Véronique; Kaplan Jean-Claude; Chelly Jamel; Claustres Mireille
Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase.
Human mutation 2009;30(6):934-45.
2009: Desmet François-Olivier; Hamroun Dalil; Lalande Marine; Collod-Béroud Gwenaëlle; Claustres Mireille; Béroud Christophe
Human Splicing Finder: an online bioinformatics tool to predict splicing signals.
Nucleic acids research 2009;37(9):e67.
2009: Frédéric Mélissa Yana; Clot Fabienne; Blanchard Arnaud; Dhaenens Claire-Marie; Lesca Gaëtan; Cif Laura; Dürr Alexandra; Vidailhet Marie; Sablonniere Bernard; Calender Alain; Martinez Maria; Molinari Nicolas; Brice Alexis; Claustres Mireille; Tuffery-Giraud Sylvie; Collod-Beroud Gwenaëlle
The p.Asp216His TOR1A allele effect is not found in the French population.
Movement disorders : official journal of the Movement Disorder Society 2009;24(6):919-21.
2009: Schrauwen Isabelle; Ealy Megan; Huentelman Matthew J; Thys Melissa; Homer Nils; Vanderstraeten Kathleen; Fransen Erik; Corneveaux Jason J; Craig David W; Claustres Mireille; Cremers Cor W R J; Dhooge Ingeborg; Van de Heyning Paul; Vincent Robert; Offeciers Erwin; Smith Richard J H; Van Camp Guy
A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis.
American journal of human genetics 2009;84(3):328-38.
2009: Frédéric Melissa Yana; Monino Christine; Marschall Christoph; Hamroun Dalil; Faivre Laurence; Jondeau Guillaume; Klein Hanns-Georg; Neumann Luitgard; Gautier Elodie; Binquet Christine; Maslen Cheryl; Godfrey Maurice; Gupta Prateek; Milewicz Dianna; Boileau Catherine; Claustres Mireille; Béroud Christophe; Collod-Béroud Gwenaëlle
The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.
Human mutation 2009;30(2):181-90.
2009: Faivre Laurence; Masurel-Paulet Alice; Collod-Béroud Gwenaëlle; Callewaert Bert L; Child Anne H; Stheneur Chantal; Binquet Christine; Gautier Elodie; Chevallier Bertrand; Huet Frédéric; Loeys Bart L; Arbustini Eloisa; Mayer Karin; Arslan-Kirchner Mine; Kiotsekoglou Anatoli; Comeglio Paolo; Grasso Maurizia; Halliday Dorothy J; Béroud Christophe; Bonithon-Kopp Claire; Claustres Mireille; Robinson Peter N; Adès Lesley; De Backer Julie; Coucke Paul; Francke Uta; De Paepe Anne; Boileau Catherine; Jondeau Guillaume
Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations.
Pediatrics 2009;123(1):391-8.
2008: des Georges Marie; Guittard Caroline; Templin Carine; Altiéri Jean-Pierre; de Carvalho Candice; Ramsay Michele; Claustres Mireille
WGA allows the molecular characterization of a novel large CFTR rearrangement in a black South African cystic fibrosis patient.
The Journal of molecular diagnostics : JMD 2008;10(6):544-8.
2008: Stheneur Chantal; Collod-Béroud Gwenaëlle; Faivre Laurence; Gouya Laurent; Sultan Gilles; Le Parc Jean-Marie; Moura Bertrand; Attias David; Muti Christine; Sznajder Marc; Claustres Mireille; Junien Claudine; Baumann Clarisse; Cormier-Daire Valérie; Rio Marlène; Lyonnet Stanislas; Plauchu Henri; Lacombe Didier; Chevallier Bertrand; Jondeau Guillaume; Boileau Catherine
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.
Human mutation 2008;29(11):E284-95.
2008: Girardet Anne; Fernandez Céline; Claustres Mireille
Efficient strategies for preimplantation genetic diagnosis of spinal muscular atrophy.
Fertility and sterility 2008;90(2):443.e7-12.
2008: Schrauwen Isabelle; Thys Melissa; Vanderstraeten Kathleen; Fransen Erik; Dieltjens Nele; Huyghe Jeroen R; Ealy Megan; Claustres Mireille; Cremers Cor R W J; Dhooge Ingeborg; Declau Frank; Van de Heyning Paul; Vincent Robert; Somers Thomas; Offeciers Erwin; Smith Richard J H; Van Camp Guy
Association of bone morphogenetic proteins with otosclerosis.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2008;23(4):507-16.
2008: Frederic Melissa Yana; Hamroun Dalil; Faivre Laurence; Boileau Catherine; Jondeau Guillaume; Claustres Mireille; Béroud Christophe; Collod-Béroud Gwenaëlle
A new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD-TGFBR2.
Human mutation 2008;29(1):33-8.
2007: Bareil Corinne; Guittard Caroline; Altieri Jean-Pierre; Templin Carine; Claustres Mireille; des Georges Marie
Comprehensive and rapid genotyping of mutations and haplotypes in congenital bilateral absence of the vas deferens and other cystic fibrosis transmembrane conductance regulator-related disorders.
The Journal of molecular diagnostics : JMD 2007;9(5):582-8.
2007: Cotton R G H; Auerbach A D; Brown A F; Carrera P; Christodoulou J; Claustres M; Compton J; Cox D W; De Baere E; den Dunnen J T; Greenblatt M; Fujiwara M; Hilbert P; Jani A; Lehvaslaiho H; Nebert D W; Verma I; Vihinen M;
A structured simple form for ordering genetic tests is needed to ensure coupling of clinical detail (phenotype) with DNA variants (genotype) to ensure utility in publication and databases.
Human mutation 2007;28(10):931-2.
2007: Taulan M; Lopez E; Guittard C; René C; Baux D; Altieri J P; DesGeorges M; Claustres M; Romey M C
First functional polymorphism in CFTR promoter that results in decreased transcriptional activity and Sp1/USF binding.
Biochemical and biophysical research communications 2007;361(3):775-81.
2007: Thys Melissa; Schrauwen Isabelle; Vanderstraeten Kathleen; Janssens Katrien; Dieltjens Nele; Van Den Bogaert Kris; Fransen Erik; Chen Wenjie; Ealy Megan; Claustres Mireille; Cremers Cor R W J; Dhooge Ingeborg; Declau Frank; Claes Jos; Van de Heyning Paul; Vincent Robert; Somers Thomas; Offeciers Erwin; Smith Richard J H; Van Camp Guy
The coding polymorphism T263I in TGF-beta1 is associated with otosclerosis in two independent populations.
Human molecular genetics 2007;16(17):2021-30.
2007: Giansily-Blaizot Muriel; Thorel Delphine; Khau Van Kien Philippe; Behar Catherine; Romey Marie-Catherine; Mugneret Francine; Schved Jean-François; Claustres Mireille
Characterisation of a large complex intragenic re-arrangement in the FVII gene (F7) avoiding misdiagnosis in inherited factor VII deficiency.
British journal of haematology 2007;138(3):359-65.
2007: Baux David; Larrieu Lise; Blanchet Catherine; Hamel Christian; Ben Salah Safouane; Vielle Anne; Gilbert-Dussardier Brigitte; Holder Muriel; Calvas Patrick; Philip Nicole; Edery Patrick; Bonneau Dominique; Claustres Mireille; Malcolm Sue; Roux Anne-Françoise
Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients.
Human mutation 2007;28(8):781-9.
2007: Frédéric Mélissa; Lucarz Estelle; Monino Christine; Saquet Céline; Thorel Delphine; Claustres Mireille; Tuffery-Giraud Sylvie; Collod-Béroud Gwenaelle
First determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a Mediterranean population.
Movement disorders : official journal of the Movement Disorder Society 2007;22(6):884-8.
2007: Béroud Christophe; Tuffery-Giraud Sylvie; Matsuo Masafumi; Hamroun Dalil; Humbertclaude Véronique; Monnier Nicole; Moizard Marie-Pierre; Voelckel Marie-Antoinette; Calemard Laurence Michel; Boisseau Pierre; Blayau Martine; Philippe Christophe; Cossée Mireille; Pagès Michel; Rivier François; Danos Olivier; Garcia Luis; Claustres Mireille
Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy.
Human mutation 2007;28(2):196-202.
2007: Richard Chrystelle; Pennarun Erwan; Kivisild Toomas; Tambets Kristiina; Tolk Helle-Viivi; Metspalu Ene; Reidla Maere; Chevalier Sylviana; Giraudet Stéphanie; Lauc Lovorka Barac; Pericic Marijana; Rudan Pavao; Claustres Mireille; Journel Hubert; Dorval Ian; Müller Claude; Villems Richard; Chaventré André; Moisan Jean-Paul
An mtDNA perspective of French genetic variation.
Annals of human biology 2007;34(1):68-79.
2007: Taulan Magali; Girardet Anne; Guittard Caroline; Altieri Jean-Pierre; Templin Carine; Beroud Christophe; des Georges Marie; Claustres Mireille
Large genomic rearrangements in the CFTR gene contribute to CBAVD.
BMC medical genetics 2007;8():22.
2007: Le Guédard Sandie; Faugère Valérie; Malcolm Sue; Claustres Mireille; Roux Anne-Françoise
Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome.
Molecular vision 2007;13():102-7.
2006: Roux A-F; Faugère V; Le Guédard S; Pallares-Ruiz N; Vielle A; Chambert S; Marlin S; Hamel C; Gilbert B; Malcolm S; Claustres M;
Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.
Journal of medical genetics 2006;43(9):763-8.
2006: Disset A; Bourgeois C F; Benmalek N; Claustres M; Stevenin J; Tuffery-Giraud Sylvie
An exon skipping-associated nonsense mutation in the dystrophin gene uncovers a complex interplay between multiple antagonistic splicing elements.
Human molecular genetics 2006;15(6):999-1013.
2006: Soussi Thierry; Ishioka Chikashi; Claustres Mireille; Béroud Christophe
Locus-specific mutation databases: pitfalls and good practice based on the p53 experience.
Nature reviews. Cancer 2006;6(1):83-90.
2006: Soussi Thierry; Asselain Bernard; Hamroun Dalil; Kato Shunsuke; Ishioka Chikashi; Claustres Mireille; Béroud Christophe
Meta-analysis of the p53 mutation database for mutant p53 biological activity reveals a methodologic bias in mutation detection.
Clinical cancer research : an official journal of the American Association for Cancer Research 2006;12(1):62-9.
2006: Hamroun Dalil; Kato Shunsuke; Ishioka Chikashi; Claustres Mireille; Béroud Christophe; Soussi Thierry
The UMD TP53 database and website: update and revisions.
Human mutation 2006;27(1):14-20.
2006: Pompei Fiorenza; Ciminelli Bianca Maria; Bombieri Cristina; Ciccacci Cinzia; Koudova Monika; Giorgi Silvia; Belpinati Francesca; Begnini Angela; Cerny Milos; Des Georges Marie; Claustres Mireille; Ferec Claude; Macek Milan; Modiano Guido; Pignatti Pier Franco
Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations.
European journal of human genetics : EJHG 2006;14(1):85-93.
2005: Tuffery-Giraud Sylvie; Saquet Céline; Thorel Delphine; Disset Antoine; Rivier François; Malcolm Sue; Claustres Mireille
Mutation spectrum leading to an attenuated phenotype in dystrophinopathies.
European journal of human genetics : EJHG 2005;13(12):1254-60.
2005: Béroud Christophe; Hamroun Dalil; Collod-Béroud Gwenaëlle; Boileau Catherine; Soussi Thierry; Claustres Mireille
UMD (Universal Mutation Database): 2005 update.
Human mutation 2005;26(3):184-91.
2005: Anahory T; Hamamah S; Andréo B; Hédon B; Claustres M; Sarda P; Pellestor F
Sperm segregation analysis of a (13;22) Robertsonian translocation carrier by FISH: a comparison of locus-specific probe and whole chromosome painting.
Human reproduction (Oxford, England) 2005;20(7):1850-4.
2005: Girardet A; Moncla A; Hamamah S; Claustres M
Strategies for preimplantation genetic diagnosis of Angelman syndrome caused by mutations in the UBE3A gene.
Reproductive biomedicine online 2005;10(4):519-26.
2005: Posukh Olga; Pallares-Ruiz Nathalie; Tadinova Vera; Osipova Ludmila; Claustres Mireille; Roux Anne-Françoise
First molecular screening of deafness in the Altai Republic population.
BMC medical genetics 2005;6():12.
2005: Viel Marion; Leroy Chrystel; Des Georges Marie; Claustres Mireille; Bienvenu Thierry
Novel length variant of the polypyrimidine tract within the splice acceptor site in intron 8 of the CFTR gene: consequences for genetic testing using standard assays.
European journal of human genetics : EJHG 2005;13(2):136-8.
2005: Modiano Guido; Bombieri Cristina; Ciminelli Bianca Maria; Belpinati Francesca; Giorgi Silvia; Georges Marie des; Scotet Virginie; Pompei Fiorenza; Ciccacci Cinzia; Guittard Caroline; Audrézet Marie Pierre; Begnini Angela; Toepfer Michael; Macek Milan; Ferec Claude; Claustres Mireille; Pignatti Pier Franco
A large-scale study of the random variability of a coding sequence: a study on the CFTR gene.
European journal of human genetics : EJHG 2005;13(2):184-92.
2005: Claustres Mireille
Molecular pathology of the CFTR locus in male infertility.
Reproductive biomedicine online 2005;10(1):14-41.
2005: Disset Antoine; Michot Carine; Harris Ann; Buratti Emanuele; Claustres Mireille; Tuffery-Giraud Sylvie
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).
Human mutation 2005;25(1):72-81.
2005: René Céline; Taulan Magali; Iral Florence; Doudement Julien; L'Honoré Aurore; Gerbon Catherine; Demaille Jacques; Claustres Mireille; Romey Marie-Catherine
Binding of serum response factor to cystic fibrosis transmembrane conductance regulator CArG-like elements, as a new potential CFTR transcriptional regulation pathway.
Nucleic acids research 2005;33(16):5271-90.
2004: des Georges Marie; Guittard Caroline; Altiéri Jean-Pierre; Templin Carine; Sarles Jacques; Sarda Pierre; Claustres Mireille
High heterogeneity of CFTR mutations and unexpected low incidence of cystic fibrosis in the Mediterranean France.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2004;3(4):265-72.
2004: Tuffery-Giraud Sylvie; Saquet Céline; Chambert Sylvie; Echenne Bernard; Marie Cuisset Jean; Rivier François; Cossée Mireille; Philippe Christophe; Monnier Nicole; Bieth Eric; Recan Dominique; Antoinette Voelckel Marie; Perelman Serge; Lambert Jean-Claude; Malcolm Sue; Claustres Mireille
The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre.
Neuromuscular disorders : NMD 2004;14(10):650-8.
2004: Coubes Philippe; Cif Laura; El Fertit Hassan; Hemm Simone; Vayssiere Nathalie; Serrat Stephanie; Picot Marie Christine; Tuffery Sylvie; Claustres Mireille; Echenne Bernard; Frerebeau Philippe
Electrical stimulation of the globus pallidus internus in patients with primary generalized dystonia: long-term results.
Journal of neurosurgery 2004;101(2):189-94.
2004: Claustres Mireille; Altiéri Jean-Pierre; Guittard Caroline; Templin Carine; Chevalier-Porst Françoise; Des Georges Marie
Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations?
BMC medical genetics 2004;5():19.
2004: Mizuguchi Takeshi; Collod-Beroud Gwenaëlle; Akiyama Takushi; Abifadel Marianne; Harada Naoki; Morisaki Takayuki; Allard Delphine; Varret Mathilde; Claustres Mireille; Morisaki Hiroko; Ihara Makoto; Kinoshita Akira; Yoshiura Koh-ichiro; Junien Claudine; Kajii Tadashi; Jondeau Guillaume; Ohta Tohru; Kishino Tatsuya; Furukawa Yoichi; Nakamura Yusuke; Niikawa Norio; Boileau Catherine; Matsumoto Naomichi
Heterozygous TGFBR2 mutations in Marfan syndrome.
Nature genetics 2004;36(8):855-60.
2004: Venail Frédéric; Roux Anne-Françoise; Pallares-Ruiz Nathalie; Claustres Mireille; Blanchet Patricia; Gardiner Quentin; Mondain Michel
Nonsyndromic 35 delG mutation of the connexin 26 gene associated with deafness in syndromic children: two case reports.
The Laryngoscope 2004;114(3):566-9.
2004: Roux Anne-Françoise; Pallares-Ruiz Nathalie; Vielle Anne; Faugère Valérie; Templin Carine; Leprevost Dorothée; Artières Françoise; Lina Geneviève; Molinari Nicolas; Blanchet Patricia; Mondain Michel; Claustres Mireille
Molecular epidemiology of DFNB1 deafness in France.
BMC medical genetics 2004;5():5.
2004: Groman Joshua D; Hefferon Timothy W; Casals Teresa; Bassas Lluís; Estivill Xavier; Des Georges Marie; Guittard Caroline; Koudova Monika; Fallin M Daniele; Nemeth Krisztina; Fekete Gyorgy; Kadasi Ludovit; Friedman Ken; Schwarz Martin; Bombieri Cristina; Pignatti Pier Franco; Kanavakis Emmanuel; Tzetis Maria; Schwartz Marianne; Novelli Giuseppe; D'Apice Maria Rosaria; Sobczynska-Tomaszewska Agnieszka; Bal Jerzy; Stuhrmann Manfred; Macek Milan; Claustres Mireille; Cutting Garry R
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.
American journal of human genetics 2004;74(1):176-9.
2003: Roubertie A; Rivier F; Tuffery-Giraud S; Humbertclaude V; Claustres M; Cheminal R; Echenne B
[Movement disorders in childhood: classification and genetic update]
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2003;10(11):994-1002.
2003: Feldmann Delphine; Couderc Remy; Audrezet Marie-Pierre; Ferec Claude; Bienvenu Thierry; Desgeorges Marie; Claustres Mireille; Mittre Hervé; Blayau Martine; Bozon Dominique; Malinge Marie-Claire; Monnier Nicole; Bonnefont Jean-Paul; Iron Albert; Bieth Eric; Dumur Viviane; Clavel Christine; Cazeneuve Cécile; Girodon Emmanuelle
CFTR genotypes in patients with normal or borderline sweat chloride levels.
Human mutation 2003;22(4):340.
2003: Girardet A; Hamamah S; Déchaud H; Anahory T; Coubes C; Hédon B; Demaille J; Claustres M
Specific detection of deleted and non-deleted dystrophin exons together with gender assignment in preimplantation genetic diagnosis of Duchenne muscular dystrophy.
Molecular human reproduction 2003;9(7):421-7.
2003: Tuffery-Giraud Sylvie; Saquet Céline; Chambert Sylvie; Claustres Mireille
Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy.
Human mutation 2003;21(6):608-14.
2003: Girardet Anne; Cathala Philippe; Claustres Mireille
Rapid detection of the deltaF508 mutation in single cells using DHPLC: implications for preimplantation genetic diagnosis.
Journal of assisted reproduction and genetics 2003;20(4):153-6.
2003: Girardet A; Hamamah S; Anahory T; Déchaud H; Sarda P; Hédon B; Demaille J; Claustres M
First preimplantation genetic diagnosis of hereditary retinoblastoma using informative microsatellite markers.
Molecular human reproduction 2003;9(2):111-6.
2003: Faugère Valérie; Tuffery-Giraud Sylvie; Hamel Christian; Claustres Mireille
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.
BMC genetics 2003;4():1.
2002: Reboul M P; Bieth E; Fayon M; Biteau N; Barbier R; Dromer C; Desgeorges M; Claustres M; Bremont F; Lacombe D; Iron A
Splice mutation 1811+1.6kbA>G causes severe cystic fibrosis with pancreatic insufficiency: report of 11 compound heterozygous and two homozygous patients.
Journal of medical genetics 2002;39(11):e73.
2002: Claustres Mireille; Horaitis Ourania; Vanevski Marijana; Cotton Richard G H
Time for a unified system of mutation description and reporting: a review of locus-specific mutation databases.
Genome research 2002;12(5):680-8.
2002: Delague Valérie; Bareil Corinne; Bouvagnet Patrice; Salem Nabiha; Chouery Eliane; Loiselet Jacques; Mégarbané André; Claustres Mireille
A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze Family.
Neurogenetics 2002;4(1):23-7.
2002: Pallares-Ruiz Nathalie; Blanchet Patricia; Mondain Michel; Claustres Mireille; Roux Anne-Francoise
A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?
European journal of human genetics : EJHG 2002;10(1):72-6.
2001: Tuffery-Giraud S; Cavalier L; Roubertie A; Guittard C; Carles S; Calvas P; Echenne B; Coubes P; Claustres M
No evidence of allelic heterogeneity in the DYT1 gene of European patients with early onset torsion dystonia.
Journal of medical genetics 2001;38(10):E35.
2001: Delague V; Bareil C; Bouvagnet P; Salem N; Chouery E; Loiselet J; Mégarbané A; Claustres M
Nonprogressive autosomal recessive ataxia maps to chromosome 9q34-9qter in a large consanguineous Lebanese family.
Annals of neurology 2001;50(2):250-3.
2001: Feldmann D; Guittard C; Georges M D; Houdayer C; Magnier C; Claustres M; Couderc R
[Genetic testing for cystic fibrosis: evaluation of the Elucigene CF20 kit in blood and buccal cells]
Annales de biologie clinique 2001;59(3):277-83.
2001: Bareil C; Hamel C P; Delague V; Arnaud B; Demaille J; Claustres M
Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa.
Human genetics 2001;108(4):328-34.
2001: Federici S; Iron A; Reboul M P; Desgeorges M; Claustres M; Bremont F; Bieth E
[CFTR gene analyis in 207 patients with cystic fibrosis in southwest France: high frequency of N1303K and 1811+1.6bA>G mutations]
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2001;8(2):150-7.
2001: Guilbot A; Williams A; Ravisé N; Verny C; Brice A; Sherman D L; Brophy P J; LeGuern E; Delague V; Bareil C; Mégarbané A; Claustres M
A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease.
Human molecular genetics 2001;10(4):415-21.
2001: Pallares-Ruiz N; Blanchet P; Mondain M; Low-Hong S; Demaille J; Claustres M; Roux A F
Evaluation of dHPLC for CX26 mutation screening in patients from southern France with sensorineural deafness.
Genetic testing 2001;5(4):339-43.
2000: Hamel C P; Griffoin J M; Bazalgette C; Lasquellec L; Duval P A; Bareil C; Beaufrère L; Bonnet S; Eliaou C; Marlhens F; Schmitt-Bernard C F; Tuffery S; Claustres M; Arnaud B
[Molecular genetics of pigmentary retinopathies: identification of mutations in CHM, RDS, RHO, RPE65, USH2A and XLRS1 genes]
Journal français d'ophtalmologie 2000;23(10):985-95.
2000: Schmitt-Bernard C F; Claustres M; Arnaud B; Demaille J; Argiles A
Lattice corneal dystrophy.
Ophthalmology 2000;107(9):1613-4.
2000: Delague V; Bareil C; Tuffery S; Bouvagnet P; Chouery E; Koussa S; Maisonobe T; Loiselet J; Mégarbané A; Claustres M
Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene.
American journal of human genetics 2000;67(1):236-43.
2000: Bareil C; Delague V; Arnaud B; Demaille J; Hamel C; Claustres M
W179R: a novel missense mutation in the peripherin/RDS gene in a family with autosomal dominant retinitis pigmentosa.
Human mutation 2000;15(6):583-4.
2000: Schmitt-Bernard C F; Guittard C; Arnaud B; Demaille J; Argiles A; Claustres M; Tuffery-Giraud S
BIGH3 exon 14 mutations lead to intermediate type I/IIIA of lattice corneal dystrophies.
Investigative ophthalmology & visual science 2000;41(6):1302-8.
2000: Bombieri C; Giorgi S; Carles S; de Cid R; Belpinati F; Tandoi C; Pallares-Ruiz N; Lazaro C; Ciminelli B M; Romey M C; Casals T; Pompei F; Gandini G; Claustres M; Estivill X; Pignatti P F; Modiano G
A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals.
Human genetics 2000;106(2):172-8.
2000: Romey M C; Pallares-Ruiz N; Mange A; Mettling C; Peytavi R; Demaille J; Claustres M
A naturally occurring sequence variation that creates a YY1 element is associated with increased cystic fibrosis transmembrane conductance regulator gene expression.
The Journal of biological chemistry 2000;275(5):3561-7.
2000: Girardet A; McPeek M S; Leeflang E P; Munier F; Arnheim N; Claustres M; Pellestor F
Meiotic segregation analysis of RB1 alleles in retinoblastoma pedigrees by use of single-sperm typing.
American journal of human genetics 2000;66(1):167-75.
2000: Claustres M; Guittard C; Bozon D; Chevalier F; Verlingue C; Ferec C; Girodon E; Cazeneuve C; Bienvenu T; Lalau G; Dumur V; Feldmann D; Bieth E; Blayau M; Clavel C; Creveaux I; Malinge M C; Monnier N; Malzac P; Mittre H; Chomel J C; Bonnefont J P; Iron A; Chery M; Georges M D
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.
Human mutation 2000;16(2):143-56.
1999: Pallares-Ruiz N; Carles S; Des Georges M; Guittard C; Arnal F; Humeau C; Claustres M
Complete mutational screening of the cystic fibrosis transmembrane conductance regulator gene: cystic fibrosis mutations are not involved in healthy men with reduced sperm quality.
Human reproduction (Oxford, England) 1999;14(12):3035-40.
1999: Bareil C; Hamel C; Pallarès-Ruiz N; Arnaud B; Demaille J; Claustres M
Molecular analysis of the rhodopsin gene in southern France: identification of the first duplication responsible for retinitis pigmentosa, c.998999ins4.
Ophthalmic genetics 1999;20(3):173-82.
1999: Romey M C; Guittard C; Chazalette J P; Frossard P; Dawson K P; Patton M A; Casals T; Bazarbachi T; Girodon E; Rault G; Bozon D; Seguret F; Demaille J; Claustres M
Complex allele [-102T>A+S549R(T>G)] is associated with milder forms of cystic fibrosis than allele S549R(T>G) alone.
Human genetics 1999;105(1-2):145-50.
1999: Tuffery-Giraud S; Chambert S; Demaille J; Claustres M
[Genotypic diagnosis of Duchenne and Becker muscular dystrophies]
Annales de biologie clinique 1999;57(4):417-26.
1999: Beaufrère L; Claustres M; Tuffery S
No missense mutation in choroideremia patients analyzed to date.
Ophthalmic genetics 1999;20(2):89-93.
1999: Coubes P; Echenne B; Roubertie A; Vayssière N; Tuffery S; Humbertclaude V; Cambonie G; Claustres M; Frerebeau P
[Treatment of early-onset generalized dystonia by chronic bilateral stimulation of the internal globus pallidus. Apropos of a case]
Neuro-Chirurgie 1999;45(2):139-44.
1999: Romey M C; Guittard C; Carles S; Demaille J; Claustres M; Ramsay M
First putative sequence alterations in the minimal CFTR promoter region.
Journal of medical genetics 1999;36(3):263-4.
1999: Girardet A; Lien S; Leeflang E P; Beaufrère L; Tuffery S; Munier F; Arnheim N; Claustres M; Pellestor F
Direct estimation of the recombination frequency between the RB1 gene and two closely linked microsatellites using sperm typing.
European journal of human genetics : EJHG 1999;7(2):239-42.
1999: Tuffery-Giraud S; Chambert S; Demaille J; Claustres M
Point mutations in the dystrophin gene: evidence for frequent use of cryptic splice sites as a result of splicing defects.
Human mutation 1999;14(5):359-68.
1998: Macari F; Lautier C; Girardet A; Dadoun F; Darmon P; Dutour A; Renard E; Bouvagnet P; Claustres M; Oliver C; Grigorescu F
Refinement of genetic localization of the Alström syndrome on chromosome 2p12-13 by linkage analysis in a North African family.
Human genetics 1998;103(6):658-61.
1998: Marlhens F; Griffoin J M; Bareil C; Arnaud B; Claustres M; Hamel C P
Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene.
European journal of human genetics : EJHG 1998;6(5):527-31.
1998: Dörk T; El-Harith E H; Stuhrmann M; Macek M; Egan M; Cutting G R; Tzetis M; Kanavakis E; Carles S; Claustres M; Padoa C; Ramsay M; Schmidtke J
Evidence for a common ethnic origin of cystic fibrosis mutation 3120+1G-->A in diverse populations.
American journal of human genetics 1998;63(2):656-62.
1998: de Meeus A; Guittard C; Desgeorges M; Carles S; Demaille J; Claustres M
Linkage disequilibrium between the M470V variant and the IVS8 polyT alleles of the CFTR gene in CBAVD.
Journal of medical genetics 1998;35(7):594-6.
1998: Beaufrère L; Rieu S; Hache J C; Dumur V; Claustres M; Tuffery S
Altered rep-1 expression due to substitution at position +3 of the IVS13 splice-donor site of the choroideremia (CHM) gene.
Current eye research 1998;17(7):726-9.
1998: Beaufrere L; Girardet A; Arnaud B; Claustres M; Tuffery S
[Update on a diagnostic test for choroideremia: the protein truncation test (PTT)]
Journal français d'ophtalmologie 1998;21(5):345-50.
1998: Girardet A; Beaufrere L; Tuffery S; Claustres M; Pellestor F
[Retinoblastoma: importance of genetic counseling]
Journal français d'ophtalmologie 1998;21(4):295-301.
1998: Schmitt-Bernard C F; Bareil C; Hamel C P; Beaufrere L; Arnaud B; Claustres M; de Meeus A
[Clinical features and genetic analysis in a family with X-linked incomplete congenital stationary night blindness (CSNBi)]
Journal français d'ophtalmologie 1998;21(4):251-6.
1998: Tuffery S; Chambert S; Bareil C; Sarda P; Coubes C; Echenne B; Demaille J; Claustres M
Mutation analysis of the dystrophin gene in Southern French DMD or BMD families: from Southern blot to protein truncation test.
Human genetics 1998;102(3):334-42.
1998: de Meeus A; Guittard C; Desgeorges M; Carles S; Demaille J; Claustres M
Genetic findings in congenital bilateral aplasia of vas deferens patients and identification of six novel mutatations. Mutations in brief no. 138. Online.
Human mutation 1998;11(6):480.
1998: Beaufrère L; Rieu S; Hache J C; Dumur V; Claustres M; Tuffery S
Length variations of the poly(T) tract at the exon 3 splice acceptor site of the choroideremia gene.
Genetic counseling (Geneva, Switzerland) 1998;9(4):255-7.
1998: Maugard C; Tuffery S; Aguilar-Martinez P; Schved J F; Gris J C; Demaille J; Claustres M
Protein truncation test: detection of severe haemophilia a mutation and analysis of factor VIII transcripts.
Human mutation 1998;11(1):18-22.
1997: Beaufrère L; Tuffery S; Hamel C; Bareil C; Arnaud B; Demaille J; Claustres M
The protein truncation test (PTT) as a method of detection for choroideremia mutations.
Experimental eye research 1997;65(6):849-54.
1997: Marlhens F; Bareil C; Griffoin J M; Zrenner E; Amalric P; Eliaou C; Liu S Y; Harris E; Redmond T M; Arnaud B; Claustres M; Hamel C P
Mutations in RPE65 cause Leber's congenital amaurosis.
Nature genetics 1997;17(2):139-41.
1997: Bareil C; Hamel C; Arnaud B; Demaille J; Claustres M
A complex allele (1064delTC and IVS2 + 22ins7) in the peripherin/RDS gene in retinitis pigmentosa with macular dystrophy.
Ophthalmic genetics 1997;18(3):129-38.
1997: Desgeorges M; Mégarbané A; Guittard C; Carles S; Loiselet J; Demaille J; Claustres M
Cystic fibrosis in Lebanon: distribution of CFTR mutations among Arab communities.
Human genetics 1997;100(2):279-83.
1997: Maugard C; Margueritte G; Tuffery S; Rabesandratana H; Demaille J; Claustres M
Recurrent PIG-A mutation (IVS5+1G-->A) in a paediatric case of paroxysmal nocturnal haemoglobinuria: detection by the protein truncation test.
British journal of haematology 1997;98(1):21-4.
1997: Debrus S; Tuffery S; Matsuoka R; Galal O; Sarda P; Sauer U; Bozio A; Tanman B; Toutain A; Claustres M; Le Paslier D; Bouvagnet P
Lack of evidence for connexin 43 gene mutations in human autosomal recessive lateralization defects.
Journal of molecular and cellular cardiology 1997;29(5):1423-31.
1997: Girardet A; Pellestor F; Tuffery S; Claustres M; Munier F; Duperray C
Amplification of the RB1.20 polymorphism in single spermatozoa.
Journal of assisted reproduction and genetics 1997;14(3):177-9.
1997: Beaufrère L; Tuffery S; Hamel C; Bareil C; Arnaud B; Demaille J; Claustres M
[Rapid genetic diagnosis of females carriers related to patients with choroideremia]
Journal français d'ophtalmologie 1997;20(7):534-8.
1997: Beaufrere L; Tuffery S; Hamel C; Bareil C; Arnaud B; Demaille J; Claustres M
An exonic polymorphism (381A/G) in the choroideremia gene.
Genetic counseling (Geneva, Switzerland) 1997;8(3):223-5.
1996: Carles S; Desgeorges M; Goldman A; Thiart R; Guittard C; Kitazos C A; de Ravel T J; Westwood A T; Claustres M; Ramsay M
First report of CFTR mutations in black cystic fibrosis patients of southern African origin.
Journal of medical genetics 1996;33(9):802-4.
1996: Claustres M; Desgeorges M; Moine P; Morral N; Estivill X
CFTR haplotypic variability for normal and mutant genes in cystic fibrosis families from southern France.
Human genetics 1996;98(3):336-44.
1996: Romey M C; Tuffery S; Desgeorges M; Bienvenu T; Demaille J; Claustres M
Transcript analysis of CFTR frameshift mutations in lymphocytes using the reverse transcription-polymerase chain reaction technique and the protein truncation test.
Human genetics 1996;98(3):328-32.
1996: Beaufrère L; Tuffery S; Hamel C; Arnaud B; Demaille J; Claustres M
A novel mutation (S558X) causing choroideremia.
Human mutation 1996;8(4):395.
1996: Tuffery S; Bareil C; Demaille J; Claustres M
Four novel dystrophin point mutations: detection by protein truncation test and transcript analysis in lymphocytes from Duchenne muscular dystrophy patients.
European journal of human genetics : EJHG 1996;4(3):143-52.
1995: Desgeorges M; Rodier M; Piot M; Demaille J; Claustres M
Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype.
Human genetics 1995;96(6):717-20.
1995: Chillón M; Casals T; Mercier B; Bassas L; Lissens W; Silber S; Romey M C; Ruiz-Romero J; Verlingue C; Claustres M
Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.
The New England journal of medicine 1995;332(22):1475-80.
1995: Tuffery S; Moine P; Demaille J; Claustres M
Identification of variable length polyadenosine tract at the dystrophin locus.
Human genetics 1995;95(5):590-2.
1995: Romey M C; Desgeorges M; Ray P; Godard P; Demaille J; Claustres M
Novel missense mutation in the first transmembrane segment of the CFTR gene (Q98R) identified in a male adult.
Human mutation 1995;6(2):190-1.
1995: Tuffery S; Lenk U; Roberts R G; Coubes C; Demaille J; Claustres M
Protein truncation test: analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation.
Human mutation 1995;6(2):126-35.
1995: Maugard C; Aguilar-Martinez P; Schved J F; Biron C; Gris J C; Demaille J; Claustres M
Direct carrier detection for severe haemophilia A: application to families with no available affected male.
Genetic counseling (Geneva, Switzerland) 1995;6(2):109-12.
1994: Aguilar-Martinez P; Romey M C; Schved J F; Gris J C; Demaille J; Claustres M
Factor IX gene mutations causing haemophilia B: comparison of SSC screening versus systematic DNA sequencing and diagnostic applications.
Human genetics 1994;94(3):287-90.
1994: Chevron M P; Girard F; Claustres M; Demaille J
Expression and subcellular localization of dystrophin in skeletal, cardiac and smooth muscles during the human development.
Neuromuscular disorders : NMD 1994;4(5-6):419-32.
1994: Romey M C; Desgeorges M; Laussel M; Durand M F; Demaille J; Claustres M
Two novel rare frameshift mutations (2423 del G in exon 13 and 1215 del G in exon 7) and one novel rare sequence variation (3271 + 18 C or T) identified in a patient with cystic fibrosis.
Human molecular genetics 1994;3(6):1003-4.
1994: Romey M C; Desgeorges M; Malzac P; Sarles J; Demaille J; Claustres M
Homozygosity for a novel missense mutation (I175V) in exon 5 of the CFTR gene in a family of Armenian descent.
Human molecular genetics 1994;3(4):661-2.
1994: Culard J F; Desgeorges M; Costa P; Laussel M; Razakatzara G; Navratil H; Demaille J; Claustres M
Analysis of the whole CFTR coding regions and splice junctions in azoospermic men with congenital bilateral aplasia of epididymis or vas deferens.
Human genetics 1994;93(4):467-70.
1994: Martinez P A; Romey M C; Schved J F; Gris J C; Demaille J; Claustres M
Direct carrier testing of haemophilia B by SSCP.
Clinical and laboratory haematology 1994;16(1):15-20.
1994: Claustres M; Laussel M; Desgeorges M; Demaille J
Identification of a 6 bp deletion (3195del6) in exon 17a of the cystic fibrosis (CFTR) gene.
Human molecular genetics 1994;3(2):371.
1994: Culard J F; Desgeorges M; Romey M C; Malzac P; Demaille J; Claustres M
A novel splice site mutation in the first exon of the cystic fibrosis transmembrane regulator (CFTR) gene identified in a CBAVD patient.
Human molecular genetics 1994;3(2):369-70.
1994: Desgeorges M; Kjellberg P; Demaille J; Claustres M
A healthy male with compound and double heterozygosities for delta F508, F508C, and M47OV in exon 10 of the cystic fibrosis gene.
American journal of human genetics 1994;54(2):384-5.
1994: Desgeorges M; Laussel M; Rollin B; Demaille J; Claustres M
Severe pulmonary and digestive disease in a cystic fibrosis child homozygous for G542X.
Journal of medical genetics 1994;31(1):84-5.
1994: Aguilar-Martinez P; Romey M C; Gris J C; Schved J F; Demaille J; Claustres M
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.
Human mutation 1994;3(2):156-8.
1994: Tuffery S; Moine P; Sarda P; Lefort G; Boulot P; Demaille J; Claustres M
Molecular diagnosis of Duchenne muscular dystrophy by use of a conformational polymorphism in the absence of DNA from an affected boy.
Genetic counseling (Geneva, Switzerland) 1994;5(2):183-5.
1993: Romey M C; Aguilar-Martinez P; Demaille J; Claustres M
Rapid detection of single nucleotide deletions: application to the beta 6 (-A) mutation of the beta-globin gene and to cystic fibrosis.
Human genetics 1993;92(6):627-8.
1993: Claustres M; Laussel M; Desgeorges M; Giansily M; Culard J F; Razakatsara G; Demaille J
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.
Human molecular genetics 1993;2(8):1209-13.
1993: Aguilar-Martinez P; Galacteros F; Schved J F; Blouquit Y; Gris J C; Demaille J; Claustres M
Comparison of the protein and DNA approaches for the characterization of a beta-globin chain variant, hemoglobin Cocody [beta 21 (B3) Asp--->Asn], in a Caucasian patient.
Annals of hematology 1993;66(5):269-72.
1993: Gervais R; Dumur V; Rigot J M; Lafitte J J; Roussel P; Claustres M; Demaille J
High frequency of the R117H cystic fibrosis mutation in patients with congenital absence of the vas deferens.
The New England journal of medicine 1993;328(6):446-7.
1993: Tuffery S; Moine P; Demaille J; Claustres M
Base substitutions in the human dystrophin gene: detection by using the single-strand conformation polymorphism (SSCP) technique.
Human mutation 1993;2(5):368-74.
1993: Aguilar-Martinez P; Fabre N; Navarro R; Schved J F; Gris J C; Romey M C; Demaille J; Claustres M
DNA analysis of haemophilia A families from southern France. Experience of a hospital laboratory.
Genetic counseling (Geneva, Switzerland) 1993;4(4):311-9.
1992: Claustres M; Desgeorges M; Kjellberg P; Tissot C; Demaille J
Analysis of 30 known cystic fibrosis mutations: 10 mutations account for 27% of non-delta F508 chromosomes in southern France.
Human genetics 1992;90(4):464-6.
1992: Claustres M; Gerrard B; White M B; Desgeorges M; Kjellberg P; Rollin B; Dean M
A new mutation (1078delT) in exon 7 of the CFTR gene in a southern French adult with cystic fibrosis.
Genomics 1992;13(3):907-8.
1992: Chevron M P; Tuffery S; Echenne B; Demaille J; Claustres M
Becker muscular dystrophy: demonstration of the carrier status of a female by immunoblotting and immunostaining.
Neuromuscular disorders : NMD 1992;2(1):47-50.
1992: Claustres M; Gerrard B; Kjellberg P; Desgeorges M; Demaille J; Dean M
Screening for cystic fibrosis mutations in southern France: identification of a frameshift mutation and two missense variations.
Human mutation 1992;1(4):310-3.
1991: Claustres M; Tuffery S; Chevron M P; Jozelon M P; Martinez P; Echenne B; Demaille J
Molecular deletion patterns in families from southern France with Duchenne/Becker muscular dystrophies.
Human genetics 1991;88(2):179-84.
1990: Claustres M; Kjellberg P; Desgeorges M; Bellet H; Demaille J
Germinal mosaicism from grand-paternal origin in a family with Duchenne muscular dystrophy.
Human genetics 1990;86(2):241-3.
1990: Claustres M; Desgeorges M; Kjellberg P; Bellet H; Demaille J; Ramsay M
Cystic fibrosis typing with DNA probes and screening for delta F508 deletion in families from southern France.
Human genetics 1990;85(4):398-9.
1990: Claustres M; Desgeorges M; Kjellberg P; Demaille J
Identification of carriers by screening for delta F508 deletion in a multi-generation cystic fibrosis family.
Genetic counseling (Geneva, Switzerland) 1990;1(3-4):211-7.
1989: Claustres M; Kjellberg P; Desgeorges M; Bellet H; Sarda P; Bonnet H; Boileau C
[Detection of deletions by the amplification of exons (multiplex PCR) in Duchenne muscular dystrophy]
Journal de génétique humaine 1989;37(3):251-7.
1989: Claustres M; Bellet H; Desgeorges M; Kjellberg P; Toueri M F; Rollin B; Bonnet H
[DNA amplification in the study of polymorphisms linked to the cystic fibrosis gene]
Journal de génétique humaine 1989;37(3):243-9.

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