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Mireille Claustres

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Caroline Raynal; Anne-Françoise Roux; Magali Taulan; Corinne Theze; Sylvie Tuffery-Giraud; Corinne Bareil; David Baux; Mireille Claustres; Marie Des Georges
A Classification Model Relative to Splicing for Variants of Unknown Clinical Significance: Application to the CFTR Gene.
Victoria Viart; Jessica Varilh; Mireille Claustres; Estelle Lopez; Céline René; Magali Taulan-Cadars
Phosphorylated C/EBPβ influences a complex network involving YY1 and USF2 in lung epithelial cells.
Gema García-García; Sue Malcolm; Jose M Millan; Elena Aller; David Baux; Thomas Besnard; Mireille Claustres; Christel Vaché; Anne-Françoise Roux
The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort.

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2013: Caroline Raynal; Anne-Françoise Roux; Magali Taulan; Corinne Theze; Sylvie Tuffery-Giraud; Corinne Bareil; David Baux; Mireille Claustres; Marie Des Georges
A Classification Model Relative to Splicing for Variants of Unknown Clinical Significance: Application to the CFTR Gene.
Human mutation 2013;34(5):774-84.
2013: Victoria Viart; Jessica Varilh; Mireille Claustres; Estelle Lopez; Céline René; Magali Taulan-Cadars
Phosphorylated C/EBPβ influences a complex network involving YY1 and USF2 in lung epithelial cells.
PloS one 2013;8(4):e60211.
2013: Gema García-García; Sue Malcolm; Jose M Millan; Elena Aller; David Baux; Thomas Besnard; Mireille Claustres; Christel Vaché; Anne-Françoise Roux
The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort.
Molecular vision 2013;19():367-73.
2012: C Abadie; D Baux; T Besnard; R Biboulet; C Blanchet; Mireille Claustres; Christian Hamel; L Larrieu; Sue Malcolm; Michel Mondain; P Ravel; Anne-Françoise Roux
Audiological findings in 100 USH2 patients.
Clinical genetics 2012;82(5):433-8.
2012: Aliya Ishmukhametova; Philippe Khau van Kien; Déborah Méchin; François Rivier; Delphine Thorel; Mireille Claustres; Christine Coubes; Véronique Humbertclaude; Marie-Claire Vincent; Sylvie Tuffery-Giraud
Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene.
European journal of human genetics : EJHG 2012;20(10):1096-100.
2012: Erica Lana; Gérard Lefranc; André Mégarbané; Pierre Sarda; Hélène Tourrière; Mireille Claustres; Albertina De Sario
DNA replication is altered in Immunodeficiency Centromeric instability Facial anomalies (ICF) cells carrying DNMT3B mutations.
European journal of human genetics : EJHG 2012;20(10):1044-50.
2012: Muriel Giansily-Blaizot; Estelle Lopez; Jacqueline Tapon-Bretaudière; Ouerdia Chafa; Mireille Claustres; Victoria Viart; Magali Taulan
Lethal factor VII deficiency due to novel mutations in the F7 promoter: functional analysis reveals disruption of HNF4 binding site.
Thrombosis and haemostasis 2012;108(2):277-83.
2012: Magali Taulan; Carine Templin; Corinne Theze; Victoria Viart; Jean-Pierre Altieri; Mireille Claustres; Caroline Guittard; Laurent Mely; Marie Des Georges
Identification of a novel duplication CFTRdup2 and functional impact of large rearrangements identified in the CFTR gene.
Gene 2012;500(2):194-8.
2012: Thomas Besnard; Catherine Blanchet; Patricia Blanchet; Patrick Calvas; Mireille Claustres; Albert David; Hélène Dollfus; Christian Hamel; Bertrand Isidor; Lise Larrieu; James Lespinasse; Geneviève Lina-Granade; Sue Malcolm; Gilles Morin; Sylvie Odent; Caroline Abadie; David Baux; Sylvie Tuffery-Giraud; Christel Vaché; Anne-Françoise Roux
Non-USH2A mutations in USH2 patients.
Human mutation 2012;33(3):504-10.
2011: Arleen D Auerbach; John Burn; Jean-Jacques Cassiman; Mireille Claustres; Richard G H Cotton; Garry R Cutting; Johan T den Dunnen; Mona El-Ruby; Marc S Greenblatt; Finlay Macrae; Yoichi Matsubara; David L Rimoin; Aida Falcon Vargas; Mauno Vihinen; Christine Van Broeckhoven
Mutation (variation) databases and registries: a rationale for coordination of efforts.
Nature reviews. Genetics 2011;12(12):881; discussion 881.
2011: Catherine Costa; André Coste; Bruno Costes; Alix de Becdelievre; Ralph Epaud; Pascale Fanen; Christine Gameiro; Marie Des Georges; Abdel Aissat; Laurence Bassinet; Thierry Bienvenu; Eric Bieth; Mireille Claustres; Irina Giurgea; Lisa Golmard; Michel Goossens; Caroline Guittard; Alexandre Hinzpeter; Virginie Pruliere-Escabasse; Emmanuelle Girodon
A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2011;10(6):479-82.
2011: Arnaud Blanchard; Mireille Claustres; Christophe Béroud; Coline Coquart; Vuthy Ea; Mélanie Martin; Agathe Roubertie; Gwenaëlle Collod-Béroud
DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene.
Human mutation 2011;32(11):1213-24.
2011: Bernhard Steiner; Niels Teich; Heiko Witt; Matthias Löhr; Marie-Pierre Audrezet; Teresa Casals; Mireille Claustres; Marie Des Georges; Marie-Claire Desax; Antoni Farre; Claude Férec; Sabina Gallati; Macarena Gomez-Lira; Thomas M Gress; Volker Keim; Monika Koudova; Olfert Landt; Matthias Lühr; Milan Macek Jr.; Renate Nickel; Roland Pfützer; Jonas Rosendahl; Hans-Ulrich Schulz; Kaspar Truninger
Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens.
Human mutation 2011;32(8):912-20.
2011: Anne-Françoise Roux; Christel Vaché; Umberto Ambrosetti; David Baux; Thomas Besnard; Catherine Blanchet; Dominique Bonneau; Albert David; P Edery; Valérie Faugère; Brigitte Gilbert-Dussardier; Christian Hamel; Muriel Holder-Espinasse; Hubert Journel; Didier Lacombe; Susana Léonard; Geneviève Lina-Granade; Sue Malcolm; Michel Mondain; Mireille Claustres
Four-year follow-up of diagnostic service in USH1 patients.
Investigative ophthalmology & visual science 2011;52(7):4063-71.
2011: Mouna Messaoud Khelifi; Aliya Ishmukhametova; Delphine Thorel; Déborah Méchin; Serge Perelman; Jean Pouget; Mireille Claustres; Philippe Khau Van Kien; Sylvie Tuffery-Giraud
Pure intronic rearrangements leading to aberrant pseudoexon inclusion in dystrophinopathy: a new class of mutations?
Human mutation 2011;32(4):467-75.
2011: Chantal Stheneur; Laurence Faivre; Gwenaëlle Collod-Béroud; Elodie Gautier; Christine Binquet; Claire Bonithon-Kopp; Mireille Claustres; Anne H Child; Eloisa Arbustini; Lesley C Adès; Uta Francke; Karin Mayer; Mine Arslan-Kirchner; Anne De Paepe; Bertrand Chevallier; Damien Bonnet; Guillaume Jondeau; catherine boileau
Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year.
Pediatric research 2011;69(3):265-70.
2011: Estelle Lopez; Victoria Viart; Caroline Guittard; Carine Templin; Céline René; Déborah Méchin; Marie Des Georges; Mireille Claustres; Marie-Catherine Romey-Chatelain; Magali Taulan
Variants in CFTR untranslated regions are associated with congenital bilateral absence of the vas deferens.
Journal of medical genetics 2011;48(3):152-9.
2011: Marie-Elisabeth Brun; Erica Lana; Isabelle Rivals; Gérard Lefranc; Pierre Sarda; Mireille Claustres; André Mégarbané; Albertina De Sario
Heterochromatic genes undergo epigenetic changes and escape silencing in immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome.
PloS one 2011;6(4):e19464.
2011: Damien Paulet; Mireille Claustres; Christophe Béroud
Hydrophobic pulses predict transmembrane helix irregularities and channel transmembrane units.
BMC bioinformatics 2011;12():135.
2011: Céline René; Damien Paulet; Emmanuelle Girodon; Catherine Costa; Guy Lalau; Julie Leclerc; Faïza Cabet-Bey; Thierry Bienvenu; Martine Blayau; Albert Iron; Hervé Mittre; Delphine Feldmann; Caroline Guittard; Mireille Claustres; Marie des Georges
p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study.
European journal of human genetics : EJHG 2011;19(1):36-42.
2010: Delphine Détaint; Laurence Faivre; Gwenaelle Collod-Beroud; Anne H Child; Bart Loeys; Christine Binquet; Elodie Gautier; Eloisa Arbustini; Karin Mayer; Mine Arslan-Kirchner; Chantal Stheneur; Dorothy Halliday; Christophe Beroud; Claire Bonithon-Kopp; Mireille Claustres; Henri Plauchu; Peter N Robinson; Anatoli Kiotsekoglou; Julie De Backer; Lesley Adès; Uta Francke; Anne De Paepe; catherine boileau; Guillaume Jondeau
Cardiovascular manifestations in men and women carrying a FBN1 mutation.
European heart journal 2010;31(18):2223-9.
2010: Corinne Bareil; Corinne Thèze; Christophe Béroud; dalil hamroun; Caroline Guittard; Céline René; Damien Paulet; Marie des Georges; Mireille Claustres
UMD-CFTR: a database dedicated to CF and CFTR-related disorders.
Human mutation 2010;31(9):1011-9.
2010: Laurence Faivre; Philippe Khau van Kien; Patrick Callier; Nathalie Ruiz-Pallares; Corinne Baudoin; Aurélie Plancke; Jean-Eric Wolf; Christel Thauvin-Robinet; Edith Durand; Delphine Minot; Véronique Dulieu; Jean-Damien Metaizeau; Bruno Leheup; Fanny Coron; Samuel Bidot; Frédéric Huet; Guillaume Jondeau; catherine boileau; Mireille Claustres; Francine Mugneret
De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome.
European journal of medical genetics 2010;53(4):208-12.
2010: Céline René; Estelle Lopez; Mireille Claustres; Magali Taulan; Marie-Catherine Romey-Chatelain
NF-E2-related factor 2, a key inducer of antioxidant defenses, negatively regulates the CFTR transcription.
Cellular and molecular life sciences : CMLS 2010;67(13):2297-309.
2010: Elena Aller; Lise Larrieu; Teresa Jaijo; David Baux; Carmen Espinós; Fernando González-Candelas; Carmen Nájera; Francesc Palau; Mireille Claustres; Anne-Françoise Roux; José M Millán
The USH2A c.2299delG mutation: dating its common origin in a Southern European population.
European journal of human genetics : EJHG 2010;18(7):788-93.
2010: Christel Vaché; Thomas Besnard; Catherine Blanchet; David Baux; Lise Larrieu; Valérie Faugère; Michel Mondain; Christian Hamel; Sue Malcolm; Mireille Claustres; Anne-Françoise Roux
Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome.
Human mutation 2010;31(6):734-41.
2010: Inga Ebermann; Jennifer B Phillips; Max C Liebau; Robert K Koenekoop; Bernhard Schermer; Irma Lopez; Ellen Schäfer; Anne-Francoise Roux; Claudia Dafinger; Antje Bernd; Eberhart Zrenner; Mireille Claustres; Bernardo Blanco; Gudrun Nürnberg; Peter Nürnberg; Rebecca Ruland; Monte Westerfield; Thomas Benzing; Hanno J Bolz
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.
The Journal of clinical investigation 2010;120(6):1812-23.
2010: A Blanchard; A Roubertie; M Y Frédéric; Mireille Claustres; Gwenaëlle Collod-Béroud
[Monogenetic dystonia: revisiting the dopaminergic hypothesis].
Revue neurologique 2010;166(4):389-99.
2010: Sandie Le Guédard-Méreuze; Christel Vaché; David Baux; Valérie Faugère; Lise Larrieu; Caroline Abadie; Andreas Janecke; Mireille Claustres; Anne-Françoise Roux; Sylvie Tuffery-Giraud
Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes.
Human mutation 2010;31(3):347-55.
2010: Laura Cif; Xavier Vasques; Victoria Gonzalez; Patrice Ravel; Brigitte Biolsi; Gwenaelle Collod-Beroud; Sylvie Tuffery-Giraud; Hassan Elfertit; Mireille Claustres; Philippe Coubes
Long-term follow-up of DYT1 dystonia patients treated by deep brain stimulation: an open-label study.
Movement disorders : official journal of the Movement Disorder Society 2010;25(3):289-99.
2010: Philippe Khau Van Kien; David Baux; Nathalie Pallares-Ruiz; Corinne Baudoin; Aurélie Plancke; Nicolas Chassaing; Patrick Collignon; Valérie Drouin-Garraud; Alain Hovnanian; Dominique Martin-Coignard; Gwenaëlle Collod-Béroud; Christophe Béroud; Anne-Françoise Roux; Mireille Claustres
Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains.
Human mutation 2010;31(1):E1021-42.
2009: David Attias; Chantal Stheneur; Carine Roy; Gwenaëlle Collod-Béroud; Delphine Detaint; Laurence Faivre; Marie-Ange Delrue; Laurence Cohen; Christine Francannet; Christophe Béroud; Mireille Claustres; Franck Iserin; Philippe Khau Van Kien; Didier Lacombe; Martine Le Merrer; Stanislas LYONNET; Sylvie Odent; Henri Plauchu; Marlène Rio; Annick Rossi; Daniel Sidi; Philippe Gabriel STEG; Philippe Ravaud; catherine boileau; Guillaume Jondeau
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders.
Circulation 2009;120(25):2541-9.
2009: Anne Girardet; C Fernandez; Mireille Claustres
Rapid and powerful decaplex and dodecaplex PGD protocols for Duchenne muscular dystrophy.
Reproductive biomedicine online 2009;19(6):830-7.
2009: Richard G H Cotton; Aida I Al Aqeel; Fahd Al-Mulla; Paola Carrera; Mireille Claustres; Rosemary Ekong; Valentine J Hyland; Finlay A Macrae; Makia J Marafie; Mark H Paalman; George P Patrinos; Ming Qi; Rajkumar S Ramesar; Rodney J Scott; Rolf H Sijmons; María-Jesús Sobrido; Mauno Vihinen
Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project.
Genetics in medicine : official journal of the American College of Medical Genetics 2009;11(12):843-9.
2009: Magali Taulan; Caroline Guittard; Corinne Theze; Mireille Claustres; Marie des Georges
A novel double deletion underscores the importance of characterizing end points of the CFTR large rearrangements.
European journal of human genetics : EJHG 2009;17(12):1683-7.
2009: Aurélie Plancke; Muriel Holder-Espinasse; Valérie Rigau; Sylvie MANOUVRIER; Mireille Claustres; Philippe Khau Van Kien
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: Mireille Claustres
Epigenetics in facioscapulohumeral muscular dystrophy (FSHD).
Human mutation 2009;30(10):v.
2009: Sondess Hadj Fredj; Taïeb Messaoud; Carine Templin; Marie Des Georges; Slaheddine Fattoum; Mireille Claustres
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: Sandie Le Guédard-Méreuze; Christel Vaché; Nicolas Molinari; Julie Vaudaine; Mireille Claustres; Anne-Françoise Roux; Sylvie Tuffery-Giraud
Sequence contexts that determine the pathogenicity of base substitutions at position +3 of donor splice-sites.
Human mutation 2009;30(9):1329-39.
2009: Chantal Stheneur; Gwenaëlle Collod-Béroud; Laurence Faivre; Jean François Buyck; Laurent Gouya; Jean-Marie Le Parc; Bertrand Moura; Christine Muti; Bernard Grandchamp; Gilles Sultan; Mireille Claustres; Philippe Aegerter; Bertrand Chevallier; Guillaume Jondeau; catherine boileau
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: Abul Kalam Azad; Robert Rauh; François Vermeulen; Martine Jaspers; Judit Korbmacher; Brigitte Boissier; Laurence Bassinet; Yann Fichou; Marie Des Georges; Frauke Stanke; Kris De Boeck; Lieven Dupont; Miroslava Balascáková; Lena Hjelte; Patrick Lebecque; Dragica Radojkovic; Carlo Castellani; Marianne Schwartz; Manfred Stuhrmann; Martin Schwarz; Veronika Skalicka; Isabelle de Monestrol; Emmanuelle Girodon; Claude Férec; Mireille Claustres; Burkhard Tümmler; Jean-Jacques Cassiman; Christoph Korbmacher; Harry Cuppens
Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease.
Human mutation 2009;30(7):1093-103.
2009: Fatima Ammar-Khodja; Valérie Faugère; David Baux; Claire Giannesini; Susana Léonard; Mohamed Makrelouf; Rahia Malek; Djamel Djennaoui; Zenati Akila; Mireille Claustres; Anne-Françoise Roux
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: Mélissa Yana Frédéric; Marine Lalande; catherine boileau; dalil hamroun; Mireille Claustres; Christophe Béroud; Gwenaëlle Collod-Béroud
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: Sylvie Tuffery-Giraud; Christophe Béroud; France Leturcq; Rabah Ben Yaou; dalil hamroun; Laurence Michel-Calemard; Marie-Pierre Moizard; Rafaëlle Bernard; Mireille Cossée; Pierre Boisseau; Martine Blayau; Isabelle Creveaux; Anne Guiochon-Mantel; Bérengère de Martinville; Christophe Philippe; Nicole Monnier; Eric Bieth; Philippe Khau Van Kien; François-Olivier Desmet; Véronique Humbertclaude; Jean-Claude Kaplan; Jamel Chelly; Mireille Claustres
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: François-Olivier Desmet; dalil hamroun; Marine Lalande; Gwenaëlle Collod-Béroud; Mireille Claustres; Christophe Béroud
Human Splicing Finder: an online bioinformatics tool to predict splicing signals.
Nucleic acids research 2009;37(9):e67.
2009: Mélissa Yana Frédéric; Fabienne Clot; Arnaud Blanchard; Claire-Marie Dhaenens; Gaëtan Lesca; Laura Cif; Alexandra Dürr; Marie Vidailhet; Bernard Sablonniere; Alain Calender; Maria Martinez; Nicolas Molinari; Alexis Brice; Mireille Claustres; Sylvie Tuffery-Giraud; Gwenaëlle Collod-Beroud
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: Isabelle Schrauwen; Megan Ealy; Matthew Huentelman; Melissa Thys; Nils Homer; Kathleen Vanderstraeten; Erik Fransen; Jason J Corneveaux; David Craig; Mireille Claustres; Cor W R J Cremers; Ingeborg Dhooge; Paul Van de Heyning; Robert Vincent; Erwin Offeciers; Richard J H Smith; Guy Van Camp
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: Melissa Yana Frédéric; Christine Monino; Christoph Marschall; dalil hamroun; Laurence Faivre; Guillaume Jondeau; HG Klein; Luitgard Neumann; Elodie Gautier; Christine Binquet; Cheryl L Maslen; M Godfrey; Prateek Gupta; Dianna Milewicz; catherine boileau; Mireille Claustres; Christophe Béroud; Gwenaëlle Collod-Béroud
The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.
Human mutation 2009;30(2):181-90.
2009: Laurence Faivre; Alice Masurel-Paulet; Gwenaëlle Collod-Béroud; Bert L Callewaert; Anne H Child; Chantal Stheneur; Christine Binquet; Elodie Gautier; Bertrand Chevallier; Frédéric Huet; Bart Loeys; Eloisa Arbustini; Karin Mayer; Mine Arslan-Kirchner; Anatoli Kiotsekoglou; Paolo Comeglio; Maurizia Grasso; Dorothy J Halliday; Christophe Béroud; Claire Bonithon-Kopp; Mireille Claustres; Peter Robinson; Lesley Adès; Julie De Backer; Paul Coucke; Uta Francke; Anne De Paepe; catherine boileau; Guillaume Jondeau
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: Marie Des Georges; Caroline Guittard; Carine Templin; Jean-Pierre Altiéri; Candice de Carvalho; Michele Ramsay; Mireille Claustres
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: 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 Junien; Clarisse Baumann; Valérie Cormier-Daire; Marlène Rio; Stanislas LYONNET; Henri Plauchu; Didier Lacombe; Bertrand Chevallier; Guillaume Jondeau; catherine boileau
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: David Baux; Valérie Faugère; Lise Larrieu; Sandie Le Guédard-Méreuze; dalil hamroun; Christophe Béroud; Sue Malcolm; Mireille Claustres; Anne-Françoise Roux
UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes.
Human mutation 2008;29(8):E76-87.
2008: Anne Girardet; Céline Fernandez; Mireille Claustres
Efficient strategies for preimplantation genetic diagnosis of spinal muscular atrophy.
Fertility and sterility 2008;90(2):443.e7-12.
2008: Isabelle Schrauwen; Melissa Thys; Kathleen Vanderstraeten; Erik Fransen; Nele Dieltjens; Jeroen R Huyghe; Megan Ealy; Mireille Claustres; Cor R W J Cremers; Ingeborg Dhooge; Frank Declau; Paul Van de Heyning; Robert Vincent; Thomas Somers; Erwin Offeciers; Richard J H Smith; Guy Van Camp
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: Melissa Yana Frederic; dalil hamroun; Laurence Faivre; catherine boileau; Guillaume Jondeau; Mireille Claustres; Christophe Béroud; Gwenaëlle Collod-Béroud
A new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD-TGFBR2.
Human mutation 2008;29(1):33-8.
2007: Corinne Bareil; Caroline Guittard; Jean-Pierre Altieri; Carine Templin; Mireille Claustres; Marie Des Georges
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: Richard G H Cotton; A D Auerbach; A F Brown; P Carrera; J Christodoulou; Mireille Claustres; J Compton; D W Cox; E De Baere; J T den Dunnen; M Greenblatt; M Fujiwara; P Hilbert; A Jani; H Lehvaslaiho; D W Nebert; I Verma; Mauno Vihinen
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: Magali Taulan; E Lopez; Caroline Guittard; C René; D Baux; Jean-Pierre Altieri; M Desgeorges; Mireille Claustres; Marie-Catherine Romey
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: Melissa Thys; Isabelle Schrauwen; Kathleen Vanderstraeten; Koen Janssens; Nele Dieltjens; Kris Van Den Bogaert; Erik Fransen; Wenjie Chen; Megan Ealy; Mireille Claustres; Cor R W J Cremers; Ingeborg Dhooge; Frank Declau; Jos Claes; Paul Van de Heyning; Robert Vincent; Thomas Somers; Erwin Offeciers; Richard J H Smith; Guy Van Camp
The coding polymorphism T263I in TGF-beta1 is associated with otosclerosis in two independent populations.
Human molecular genetics 2007;16(17):2021-30.
2007: Muriel Giansily-Blaizot; Delphine Thorel; Philippe Khau van Kien; Catherine Behar; Marie-Catherine Romey; Francine Mugneret; Jean-François Schved; Mireille Claustres
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: David Baux; Lise Larrieu; Catherine Blanchet; Christian Hamel; Safouane Ben Salah; Anne Vielle; Brigitte Gilbert-Dussardier; Muriel Holder; Patrick Calvas; Nicole Philip; P Edery; Dominique Bonneau; Mireille Claustres; Sue Malcolm; Anne-Françoise Roux
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: Mélissa Frédéric; Estelle Lucarz; Christine Monino; Céline Saquet; Delphine Thorel; Mireille Claustres; Sylvie Tuffery-Giraud; Gwenaëlle Collod-Béroud
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: Christophe Béroud; Sylvie Tuffery-Giraud; Masafumi Matsuo; dalil hamroun; Véronique Humbertclaude; Nicole Monnier; Marie-Pierre Moizard; Marie-Antoinette Voelckel; Laurence Michel Calemard; Pierre Boisseau; Martine Blayau; Christophe Philippe; Mireille Cossée; Michel Pagès; François Rivier; Olivier Danos; Luis Garcia; Mireille Claustres
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: Chrystelle Richard; Erwan Pennarun; Toomas Kivisild; Kristiina Tambets; Helle-Viivi Tolk; Ene Metspalu; Maere Reidla; Sylviana Chevalier; Stéphanie Giraudet; Lovorka Barac Lauc; Marijana Pericić; Pavao Rudan; Mireille Claustres; Hubert Journel; Ian Dorval; Claude Müller; Richard Villems; André Chaventré; Jean-Paul Moisan
An mtDNA perspective of French genetic variation.
Annals of human biology 2007;34(1):68-79.
2007: Magali Taulan; Anne Girardet; Caroline Guittard; Jean-Pierre Altieri; Carine Templin; Christophe Beroud; Marie Des Georges; Mireille Claustres
Large genomic rearrangements in the CFTR gene contribute to CBAVD.
BMC medical genetics 2007;8():22.
2007: Sandie Le Guédard; Valérie Faugère; Sue Malcolm; Mireille Claustres; Anne-Françoise Roux
Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome.
Molecular vision 2007;13():102-7.
2006: Anne-Françoise Roux; Valérie Faugère; S Le Guédard; Nathalie Pallares-Ruiz; Anne Vielle; Sylvie Chambert; S Marlin; Christian Hamel; B Gilbert; Sue Malcolm; Mireille Claustres
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: Antoine Disset; Cyril F Bourgeois; N Benmalek; Mireille Claustres; James Stevenin; Sylvie Tuffery-Giraud
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: thierry soussi; Chikashi Ishioka; Mireille Claustres; Christophe Béroud
Locus-specific mutation databases: pitfalls and good practice based on the p53 experience.
Nature reviews. Cancer 2006;6(1):83-90.
2006: thierry soussi; Bernard Asselain; dalil hamroun; Shunsuke Kato; Chikashi Ishioka; Mireille Claustres; Christophe Béroud
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: dalil hamroun; Shunsuke Kato; Chikashi Ishioka; Mireille Claustres; Christophe Béroud; thierry soussi
The UMD TP53 database and website: update and revisions.
Human mutation 2006;27(1):14-20.
2006: Fiorenza Pompei; Bianca Maria Ciminelli; Cristina Bombieri; Cinzia Ciccacci; Monika Koudova; Silvia Giorgi; Francesca Belpinati; Angela Begnini; Milos Cerny; Marie Des Georges; Mireille Claustres; Claude Ferec; Milan Macek Jr.; Guido Modiano; Pier Franco Pignatti
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: Sylvie Tuffery-Giraud; Céline Saquet; Delphine Thorel; Antoine Disset; François Rivier; Sue Malcolm; Mireille Claustres
Mutation spectrum leading to an attenuated phenotype in dystrophinopathies.
European journal of human genetics : EJHG 2005;13(12):1254-60.
2005: Christophe Béroud; dalil hamroun; Gwenaëlle Collod-Béroud; catherine boileau; thierry soussi; Mireille Claustres
UMD (Universal Mutation Database): 2005 update.
Human mutation 2005;26(3):184-91.
2005: Tal Anahory; Samir Hamamah; Brigitte Andréo; Bernard Hédon; Mireille Claustres; Pierre Sarda; Franck Pellestor
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: Anne Girardet; A Moncla; Samir Hamamah; Mireille Claustres
Strategies for preimplantation genetic diagnosis of Angelman syndrome caused by mutations in the UBE3A gene.
Reproductive biomedicine online 2005;10(4):519-26.
2005: Olga L Posukh; Nathalie Pallares-Ruiz; Vera Tadinova; Ludmila P Osipova; Mireille Claustres; Anne-Françoise Roux
First molecular screening of deafness in the Altai Republic population.
BMC medical genetics 2005;6():12.
2005: Marion Viel; Chrystel Leroy; Marie Des Georges; Mireille Claustres; Thierry Bienvenu
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: Guido Modiano; Cristina Bombieri; Bianca Maria Ciminelli; Francesca Belpinati; Silvia Giorgi; Marie des Georges; Virginie Scotet; Fiorenza Pompei; Cinzia Ciccacci; Caroline Guittard; Marie-Pierre Audrézet; Angela Begnini; Michael Toepfer; Milan Macek Jr.; Claude Ferec; Mireille Claustres; Pier Franco Pignatti
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: Céline René; Magali Taulan; Florence Iral; Julien Doudement; Aurore L'Honoré; Catherine Gerbon; Jacques Demaille; Mireille Claustres; Marie-Catherine Romey
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.
2005: Mireille Claustres
Molecular pathology of the CFTR locus in male infertility.
Reproductive biomedicine online 2005;10(1):14-41.
2005: Antoine Disset; Carine Michot; Ann Harris; Emanuele Buratti; Mireille Claustres; Sylvie Tuffery-Giraud
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.
2004: Marie Des Georges; Caroline Guittard; Jean-Pierre Altiéri; Carine Templin; Jacques Sarles; Pierre Sarda; Mireille Claustres
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: Sylvie Tuffery-Giraud; Céline Saquet; Sylvie Chambert; Bernard Echenne; Jean Marie Cuisset; François Rivier; Mireille Cossée; Christophe Philippe; Nicole Monnier; Eric Bieth; Dominique Recan; Marie Antoinette Voelckel; Serge Perelman; Jean-Claude Lambert; Sue Malcolm; Mireille Claustres
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: Mireille Claustres; Jean-Pierre Altiéri; Caroline Guittard; Carine Templin; Françoise Chevalier-Porst; Marie Des Georges
Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations?
BMC medical genetics 2004;5():19.
2004: Philippe Coubes; Laura Cif; Hassan El Fertit; Simone Hemm; Nathalie Vayssiere; Stephanie Serrat; Marie-Christine Picot; Sylvie Tuffery; Mireille Claustres; Bernard Echenne; Philippe Frerebeau
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: Takeshi Mizuguchi; Gwenaëlle Collod-Beroud; Takushi Akiyama; Marianne Abifadel; Naoki Harada; Takayuki Morisaki; Delphine Allard; Mathilde Varret; Mireille Claustres; Hiroko Morisaki; Makoto Ihara; Akira Kinoshita; Koh-ichiro Yoshiura; Claudine Junien; Tadashi Kajii; Guillaume Jondeau; Tohru Ohta; Tatsuya Kishino; Yoichi Furukawa; Yusuke Nakamura; Norio Niikawa; catherine boileau; Naomichi Matsumoto
Heterozygous TGFBR2 mutations in Marfan syndrome.
Nature genetics 2004;36(8):855-60.
2004: Anne-Françoise Roux; Nathalie Pallares-Ruiz; Anne Vielle; Valérie Faugère; Carine Templin; Dorothée Leprevost; Françoise Artières; Geneviève Lina; Nicolas Molinari; Patricia Blanchet; Michel Mondain; Mireille Claustres
Molecular epidemiology of DFNB1 deafness in France.
BMC medical genetics 2004;5():5.
2004: Frédéric Venail; Anne-Françoise Roux; Nathalie Pallares-Ruiz; Mireille Claustres; Patricia Blanchet; Quentin Gardiner; Michel Mondain
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: Joshua D Groman; Timothy W Hefferon; Teresa Casals; Lluís Bassas; Xavier Estivill; Marie Des Georges; Caroline Guittard; Monika Koudova; MARGARET D FALLIN; Krisztina Nemeth; Gyorgy Fekete; Ludovit Kadasi; Kenneth Friedman; Martin Schwarz; Cristina Bombieri; Pier Franco Pignatti; Emmanuel Kanavakis; Maria Tzetis; Marianne Schwartz; Giuseppe Novelli; Maria Rosaria D'Apice; Agnieszka Sobczynska-Tomaszewska; Jerzy Bal; Manfred Stuhrmann; Milan Macek Jr.; Mireille Claustres; Garry R Cutting
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: Agathe Roubertie; François Rivier; Sylvie Tuffery-Giraud; Véronique Humbertclaude; Mireille Claustres; Renée Cheminal; Bernard Echenne
[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: Delphine Feldmann; Rémy Couderc; Marie-Pierre Audrezet; Claude Ferec; Thierry Bienvenu; Marie Desgeorges; Mireille Claustres; herve mittre; Martine Blayau; Dominique Bozon; Marie-Claire Malinge; Nicole Monnier; Jean-Paul Bonnefont; Albert Iron; Eric Bieth; Viviane Dumur; Christine Clavel; Cécile Cazeneuve; Emmanuelle Girodon
CFTR genotypes in patients with normal or borderline sweat chloride levels.
Human mutation 2003;22(4):340.
2003: Anne Girardet; Samir Hamamah; Hervé Déchaud; Tal Anahory; C Coubes; Bernard Hédon; Jacques Demaille; Mireille Claustres
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: Sylvie Tuffery-Giraud; Céline Saquet; Sylvie Chambert; Mireille Claustres
Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy.
Human mutation 2003;21(6):608-14.
2003: Anne Girardet; Philippe Cathala; Mireille Claustres
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: Anne Girardet; Samir Hamamah; Tal Anahory; Hervé Déchaud; Pierre Sarda; Bernard Hédon; Jacques Demaille; Mireille Claustres
First preimplantation genetic diagnosis of hereditary retinoblastoma using informative microsatellite markers.
Molecular human reproduction 2003;9(2):111-6.
2003: Valérie Faugère; Sylvie Tuffery-Giraud; Christian Hamel; Mireille Claustres
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: Marie-Pierre Reboul; Eric Bieth; M Fayon; Nicolas Biteau; R Barbier; C Dromer; Marie Desgeorges; Mireille Claustres; F Bremont; Didier Lacombe; Albert Iron
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: Mireille Claustres; Ourania Horaitis; Marijana Vanevski; Richard G H Cotton
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: Valérie Delague; Corinne Bareil; Patrice Bouvagnet; Nabiha Salem; Eliane Chouery; Jacques Loiselet; André Mégarbané; Mireille Claustres
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: Nathalie Pallares-Ruiz; Patricia Blanchet; Michel Mondain; Mireille Claustres; Anne-Françoise Roux
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: Sylvie Tuffery-Giraud; L Cavalier; Agathe Roubertie; Caroline Guittard; S Carles; Patrick Calvas; Bernard Echenne; Philippe Coubes; Mireille Claustres
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: Valérie Delague; Corinne Bareil; Patrice Bouvagnet; Nabiha Salem; Eliane Chouery; Jacques Loiselet; André Mégarbané; Mireille Claustres
Nonprogressive autosomal recessive ataxia maps to chromosome 9q34-9qter in a large consanguineous Lebanese family.
Annals of neurology 2001;50(2):250-3.
2001: Delphine Feldmann; Caroline Guittard; M D Georges; Claude Houdayer; C Magnier; Mireille Claustres; Rémy Couderc
[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: Corinne Bareil; Christian P Hamel; Valérie Delague; Bernard Arnaud; Jacques Demaille; Mireille Claustres
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: Angele Guilbot; A Williams; Nicole Ravisé; Christophe Verny; Alexis Brice; Diane L Sherman; Peter J Brophy; Eric LeGuern; Valérie Delague; Corinne Bareil; André Mégarbané; Mireille Claustres
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: S Federici; Albert Iron; Marie-Pierre Reboul; Marie Desgeorges; Mireille Claustres; F Bremont; Eric Bieth
[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: Nathalie Pallares-Ruiz; Patricia Blanchet; Michel Mondain; S Low-Hong; Jacques Demaille; Mireille Claustres; Anne-Françoise Roux
Evaluation of dHPLC for CX26 mutation screening in patients from southern France with sensorineural deafness.
Genetic testing 2001;5(4):339-43.
2000: Christian P Hamel; Jean-Michel Griffoin; Christian Bazalgette; L Lasquellec; P A Duval; Corinne Bareil; L Beaufrère; S Bonnet; C Eliaou; F Marlhens; Clair-Florent Schmitt-Bernard; Sylvie Tuffery; Mireille Claustres; Bernard Arnaud
[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: Clair-Florent Schmitt-Bernard; Mireille Claustres; Bernard Arnaud; Jacques Demaille; Angel Argiles
Lattice corneal dystrophy.
Ophthalmology 2000;107(9):1613-4.
2000: Valérie Delague; Corinne Bareil; Sylvie Tuffery; Patrice Bouvagnet; Eliane Chouery; S Koussa; T Maisonobe; Jacques Loiselet; André Mégarbané; Mireille Claustres
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: Corinne Bareil; Valérie Delague; Bernard Arnaud; Jacques Demaille; Christian Hamel; Mireille Claustres
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: Clair-Florent Schmitt-Bernard; Caroline Guittard; Bernard Arnaud; Jacques Demaille; Angel Argiles; Mireille Claustres; Sylvie Tuffery-Giraud
BIGH3 exon 14 mutations lead to intermediate type I/IIIA of lattice corneal dystrophies.
Investigative ophthalmology & visual science 2000;41(6):1302-8.
2000: Marie-Catherine Romey; Nathalie Pallares-Ruiz; A Mange; C Mettling; R Peytavi; Jacques Demaille; Mireille Claustres
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: Cristina Bombieri; Silvia Giorgi; S Carles; Rafael de Cid; Francesca Belpinati; C Tandoi; Nathalie Pallares-Ruiz; Conxi Lazaro; Bianca Maria Ciminelli; Marie-Catherine Romey; Teresa Casals; Fiorenza Pompei; G Gandini; Mireille Claustres; Xavier Estivill; Pier Franco Pignatti; Guido Modiano
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: Mireille Claustres; Caroline Guittard; Dominique Bozon; F Chevalier; C Verlingue; Claude Ferec; Emmanuelle Girodon; Cécile Cazeneuve; Thierry Bienvenu; Guy Lalau; Viviane Dumur; Delphine Feldmann; Eric Bieth; Martine Blayau; Christine Clavel; I Creveaux; Marie-Claire Malinge; Nicole Monnier; P Malzac; herve mittre; J C Chomel; Jean-Paul Bonnefont; Albert Iron; M Chery; M D Georges
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.
Human mutation 2000;16(2):143-56.
2000: Anne Girardet; M S McPeek; EP Leeflang; F Munier; Norman Arnheim; Mireille Claustres; Franck Pellestor
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.
1999: Nathalie Pallares-Ruiz; S Carles; Marie Des Georges; Caroline Guittard; Françoise Arnal; Claude Humeau; Mireille Claustres
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: Corinne Bareil; Christian Hamel; N Pallarès-Ruiz; Bernard Arnaud; Jacques Demaille; Mireille Claustres
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: Marie-Catherine Romey; Caroline Guittard; J P Chazalette; P Frossard; KP Dawson; M A Patton; Teresa Casals; T Bazarbachi; Emmanuelle Girodon; G Rault; Dominique Bozon; Fabienne Seguret; Jacques Demaille; Mireille Claustres
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: Sylvie Tuffery-Giraud; Sylvie Chambert; Jacques Demaille; Mireille Claustres
[Genotypic diagnosis of Duchenne and Becker muscular dystrophies].
Annales de biologie clinique 1999;57(4):417-26.
1999: L Beaufrère; Mireille Claustres; Sylvie Tuffery
No missense mutation in choroideremia patients analyzed to date.
Ophthalmic genetics 1999;20(2):89-93.
1999: Philippe Coubes; Bernard Echenne; Agathe Roubertie; Nathalie Vayssière; Sylvie Tuffery; Véronique Humbertclaude; Gilles Cambonie; Mireille Claustres; Philippe Frerebeau
[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: Marie-Catherine Romey; Caroline Guittard; S Carles; Jacques Demaille; Mireille Claustres; M Ramsay
First putative sequence alterations in the minimal CFTR promoter region.
Journal of medical genetics 1999;36(3):263-4.
1999: Anne Girardet; S Lien; EP Leeflang; L Beaufrère; Sylvie Tuffery; F Munier; Norman Arnheim; Mireille Claustres; Franck Pellestor
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: Sylvie Tuffery-Giraud; Sylvie Chambert; Jacques Demaille; Mireille Claustres
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: F Macari; Corinne Lautier; Anne Girardet; Frédéric Dadoun; Patrice Darmon; Anne Dutour; Eric Renard; P Bouvagnet; Mireille Claustres; C Oliver; FLORIN GRIGORESCU
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: F Marlhens; Jean-Michel Griffoin; Corinne Bareil; Bernard Arnaud; Mireille Claustres; Christian P Hamel
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: Thilo Dörk; E H El-Harith; Manfred Stuhrmann; Milan Macek Jr.; M Egan; Garry R Cutting; Maria Tzetis; E Kanavakis; S Carles; Mireille Claustres; Carolyn Padoa; M Ramsay; J Schmidtke
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: A de Meeus; Caroline Guittard; M Desgeorges; S Carles; Jacques Demaille; Mireille Claustres
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: L Beaufrère; S Rieu; Jean-Claude Hache; Viviane Dumur; Mireille Claustres; Sylvie Tuffery
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: L Beaufrere; Anne Girardet; Bernard Arnaud; Mireille Claustres; Sylvie Tuffery
[Update on a diagnostic test for choroideremia: the protein truncation test (PTT)].
Journal français d'ophtalmologie 1998;21(5):345-50.
1998: Anne Girardet; L Beaufrere; Sylvie Tuffery; Mireille Claustres; Franck Pellestor
[Retinoblastoma: importance of genetic counseling].
Journal français d'ophtalmologie 1998;21(4):295-301.
1998: Clair-Florent Schmitt-Bernard; Corinne Bareil; Christian P Hamel; L Beaufrere; Bernard Arnaud; Mireille Claustres; A de Meeus
[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: Sylvie Tuffery; Sylvie Chambert; Corinne Bareil; Pierre Sarda; Christine Coubes; Bernard Echenne; Jacques Demaille; Mireille Claustres
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: A de Meeus; Caroline Guittard; M Desgeorges; S Carles; Jacques Demaille; Mireille Claustres
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: L Beaufrère; S Rieu; Jean-Claude Hache; Viviane Dumur; Mireille Claustres; Sylvie Tuffery
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: C Maugard; Sylvie Tuffery; Patricia Aguilar-Martinez; Jean-François Schved; Jean-Christophe Gris; Jacques Demaille; Mireille Claustres
Protein truncation test: detection of severe haemophilia a mutation and analysis of factor VIII transcripts.
Human mutation 1998;11(1):18-22.
1997: L Beaufrère; Sylvie Tuffery; Christian Hamel; Corinne Bareil; Bernard Arnaud; Jacques Demaille; Mireille Claustres
The protein truncation test (PTT) as a method of detection for choroideremia mutations.
Experimental eye research 1997;65(6):849-54.
1997: F Marlhens; Corinne Bareil; Jean-Michel Griffoin; E Zrenner; P Amalric; C Eliaou; S Y Liu; E Harris; T Michael Redmond; Bernard Arnaud; Mireille Claustres; Christian P Hamel
Mutations in RPE65 cause Leber's congenital amaurosis.
Nature genetics 1997;17(2):139-41.
1997: Corinne Bareil; Christian Hamel; Bernard Arnaud; Jacques Demaille; Mireille Claustres
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: M Desgeorges; A Mégarbané; Caroline Guittard; S Carles; J Loiselet; Jacques Demaille; Mireille Claustres
Cystic fibrosis in Lebanon: distribution of CFTR mutations among Arab communities.
Human genetics 1997;100(2):279-83.
1997: C Maugard; G Margueritte; Sylvie Tuffery; H Rabesandratana; Jacques Demaille; Mireille Claustres
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: S Debrus; Sylvie Tuffery; R Matsuoka; O Galal; Pierre Sarda; U Sauer; André Bozio; B Tanman; A Toutain; Mireille Claustres; D Le Paslier; Patrice Bouvagnet
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: Anne Girardet; Franck Pellestor; Sylvie Tuffery; Mireille Claustres; F Munier; C Duperray
Amplification of the RB1.20 polymorphism in single spermatozoa.
Journal of assisted reproduction and genetics 1997;14(3):177-9.
1997: L Beaufrère; Sylvie Tuffery; Christian Hamel; Corinne Bareil; Bernard Arnaud; Jacques Demaille; Mireille Claustres
[Rapid genetic diagnosis of females carriers related to patients with choroideremia].
Journal français d'ophtalmologie 1997;20(7):534-8.
1997: L Beaufrere; Sylvie Tuffery; Christian Hamel; Corinne Bareil; Bernard Arnaud; Jacques Demaille; Mireille Claustres
An exonic polymorphism (381A/G) in the choroideremia gene.
Genetic counseling (Geneva, Switzerland) 1997;8(3):223-5.
1996: S Carles; M Desgeorges; A Goldman; R Thiart; Caroline Guittard; C A Kitazos; T J de Ravel; A T Westwood; Mireille Claustres; M Ramsay
First report of CFTR mutations in black cystic fibrosis patients of southern African origin.
Journal of medical genetics 1996;33(9):802-4.
1996: Mireille Claustres; M Desgeorges; P Moine; N Morral; X Estivill
CFTR haplotypic variability for normal and mutant genes in cystic fibrosis families from southern France.
Human genetics 1996;98(3):336-44.
1996: Marie-Catherine Romey; Sylvie Tuffery; M Desgeorges; T Bienvenu; Jacques Demaille; Mireille Claustres
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: L Beaufrère; Sylvie Tuffery; C Hamel; Bernard Arnaud; Jacques Demaille; Mireille Claustres
A novel mutation (S558X) causing choroideremia.
Human mutation 1996;8(4):395.
1996: Sylvie Tuffery; Corinne Bareil; Jacques Demaille; Mireille Claustres
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: M Desgeorges; M Rodier; M Piot; Jacques Demaille; Mireille Claustres
Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype.
Human genetics 1995;96(6):717-20.
1995: M Chillón; Teresa Casals; B Mercier; L Bassas; Willy Lissens; S Silber; Marie-Catherine Romey; J Ruiz-Romero; C Verlingue; Mireille Claustres
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: Sylvie Tuffery; P Moine; Jacques Demaille; Mireille Claustres
Identification of variable length polyadenosine tract at the dystrophin locus.
Human genetics 1995;95(5):590-2.
1995: Marie-Catherine Romey; M Desgeorges; P Ray; P Godard; Jacques Demaille; Mireille Claustres
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: Sylvie Tuffery; U Lenk; Roland Roberts; C Coubes; Jacques Demaille; Mireille Claustres
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: C Maugard; Patricia Aguilar-Martinez; Jean-François Schved; C Biron; Jean-Christophe Gris; Jacques Demaille; Mireille Claustres
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: Patricia Aguilar-Martinez; Marie-Catherine Romey; Jean-François Schved; Jean-Christophe Gris; Jacques Demaille; Mireille Claustres
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: M P Chevron; F Girard; Mireille Claustres; Jacques Demaille
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: Marie-Catherine Romey; M Desgeorges; M Laussel; M F Durand; Jacques Demaille; Mireille Claustres
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: Marie-Catherine Romey; M Desgeorges; P Malzac; J Sarles; Jacques Demaille; Mireille Claustres
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: J F Culard; M Desgeorges; P Costa; M Laussel; G Razakatzara; H Navratil; Jacques Demaille; Mireille Claustres
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: P A Martinez; Marie-Catherine Romey; Jean-François Schved; Jean-Christophe Gris; Jacques Demaille; Mireille Claustres
Direct carrier testing of haemophilia B by SSCP.
Clinical and laboratory haematology 1994;16(1):15-20.
1994: Mireille Claustres; M Laussel; M Desgeorges; Jacques Demaille
Identification of a 6 bp deletion (3195del6) in exon 17a of the cystic fibrosis (CFTR) gene.
Human molecular genetics 1994;3(2):371.
1994: J F Culard; M Desgeorges; Marie-Catherine Romey; P Malzac; Jacques Demaille; Mireille Claustres
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: M Desgeorges; P Kjellberg; Jacques Demaille; Mireille Claustres
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: Patricia Aguilar-Martinez; Marie-Catherine Romey; Jean-Christophe Gris; Jean-François Schved; Jacques Demaille; Mireille Claustres
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: Sylvie Tuffery; P Moine; P Sarda; G Lefort; P Boulot; Jacques Demaille; Mireille Claustres
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.
1994: M Desgeorges; M Laussel; B Rollin; Jacques Demaille; Mireille Claustres
Severe pulmonary and digestive disease in a cystic fibrosis child homozygous for G542X.
Journal of medical genetics 1994;31(1):84-5.
1993: Marie-Catherine Romey; Patricia Aguilar-Martinez; Jacques Demaille; Mireille Claustres
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: Mireille Claustres; M Laussel; M Desgeorges; M Giansily; J F Culard; G Razakatsara; Jacques Demaille
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: Patricia Aguilar-Martinez; F Galacteros; Jean-François Schved; Y Blouquit; Jean-Christophe Gris; Jacques Demaille; Mireille Claustres
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: R Gervais; V Dumur; Jean-Marc Rigot; Jean-Jacques Lafitte; Philippe Roussel; Mireille Claustres; J Demaille
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: Sylvie Tuffery; P Moine; Jacques Demaille; Mireille Claustres
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: Patricia Aguilar-Martinez; N Fabre; R Navarro; Jean-François Schved; Jean-Christophe Gris; Marie-Catherine Romey; Jacques Demaille; Mireille Claustres
DNA analysis of haemophilia A families from southern France. Experience of a hospital laboratory.
Genetic counseling (Geneva, Switzerland) 1993;4(4):311-9.
1992: Mireille Claustres; M Desgeorges; P Kjellberg; C Tissot; Jacques Demaille
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: Mireille Claustres; B Gerrard; M B White; M Desgeorges; P Kjellberg; B Rollin; M Dean
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: M P Chevron; Sylvie Tuffery; Bernard Echenne; Jacques Demaille; Mireille Claustres
Becker muscular dystrophy: demonstration of the carrier status of a female by immunoblotting and immunostaining.
Neuromuscular disorders : NMD 1992;2(1):47-50.
1992: Mireille Claustres; B Gerrard; P Kjellberg; M Desgeorges; Jacques Demaille; M Dean
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: Mireille Claustres; Sylvie Tuffery; M P Chevron; M P Jozelon; P Martinez; Bernard Echenne; Jacques Demaille
Molecular deletion patterns in families from southern France with Duchenne/Becker muscular dystrophies.
Human genetics 1991;88(2):179-84.
1990: Mireille Claustres; P Kjellberg; M Desgeorges; H Bellet; Jacques Demaille
Germinal mosaicism from grand-paternal origin in a family with Duchenne muscular dystrophy.
Human genetics 1990;86(2):241-3.
1990: Mireille Claustres; M Desgeorges; P Kjellberg; H Bellet; Jacques Demaille; M Ramsay
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: Mireille Claustres; M Desgeorges; P Kjellberg; Jacques Demaille
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: Mireille Claustres; P Kjellberg; M Desgeorges; H Bellet; P Sarda; H Bonnet; catherine boileau
[Detection of deletions by the amplification of exons (multiplex PCR) in Duchenne muscular dystrophy].
Journal de génétique humaine 1989;37(3):251-7.
1989: Mireille Claustres; H Bellet; M Desgeorges; P Kjellberg; M F Toueri; B Rollin; H Bonnet
[DNA amplification in the study of polymorphisms linked to the cystic fibrosis gene].
Journal de génétique humaine 1989;37(3):243-9.