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42 results
  1. Usher Syndrome Type II - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1341
    ... Biboulet R, Hamel C, Malcolm S, Mondain M, Claustres M, Roux AF. Audiological findings in 100 USH2 ... Castorina P, Puech B, Bonneau D, Malcolm S, Claustres M, Roux AF. Enrichment of LOVD-USHbases with ...
  2. Heritable Thoracic Aortic Disease Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1120
    ... Delrue MA, Cohen L, Francannet C, Béroud C, Claustres M, Iserin F, Khau Van Kien P, Lacombe ... C, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Plauchu H, Robinson PN, Kiotsekoglou A, De ...
  3. FBN1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/fbn1
    ... P, Grasso M, Beroud C, Bonithon-Kopp C, Claustres M, Stheneur C, Bouchot O, Wolf JE, Robinson ... HC, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Muti C, Plauchu H, Robinson PN, Ades ...
  4. DYT1 Early-Onset Isolated Dystonia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1492
    ... Collod-Beroud G, Tuffery-Giraud S, Elfertit H, Claustres M, Coubes P. Long-term follow-up of ... Carles S, Calvas P, Echenne B, Coubes P, Claustres M. No evidence of allelic heterogeneity in the ...
  5. Loeys-Dietz Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1133
    ... Delrue MA, Cohen L, Francannet C, Béroud C, Claustres M, Iserin F, Khau Van Kien P, Lacombe ... Harada N, Morisaki T, Allard D, Varret M, Claustres M, Morisaki H, Ihara M, Kinoshita A, Yoshiura ...
  6. Marfan Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1335
    ... HC, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Muti C, Plauchu H, Robinson PN, Adès ... Harada N, Morisaki T, Allard D, Varret M, Claustres M, Morisaki H, Ihara M, Kinoshita A, Yoshiura ...
  7. Hereditary Ataxia Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1138
    ... Ferdinandusse S, Larrieu L, Anheim M, Arslan EA, Claustres M, Tranchant C, Topaloglu H, Koenig M. Genes ... Verient B, Raffo E, Jonveaux P, Roux AF, Claustres M, Fliegel L, Koenig M. Mutation of SLC9A1, ...
  8. Cystic Fibrosis and Congenital Absence of the Vas Deferens - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1250
    ... 2011; 38 :1071–80. [ PubMed : 21478216 ] Bombieri C, Claustres M, De Boeck K, Derichs N, Dodge J, ... A, Bal J, Stuhrmann M, Macek M Jr, Claustres M, Cutting GR. Variation in a repeat sequence ...
  9. CFTR gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/cftr
    ... JP, Templin C, Beroud C, des Georges M, Claustres M. Large genomic rearrangements in the CFTR gene ...
  10. Hereditary Dystonia Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1155
    ... C, Tuffery-Giraud S, Coubes P, Sablonnière B, Claustres M, Collod-Béroud G. Singular DYT6 phenotypes in ...
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