Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Mathieu Boimard"'
Autor:
Aurélie Vasson, Céline Leroux, Lucie Orhant, Mathieu Boimard, Aurélie Toussaint, Chrystel Leroy, Virginie Commere, Tiffany Ghiotti, Nathalie Deburgrave, Yoann Saillour, Isabelle Atlan, Corinne Fouveaut, Cherif Beldjord, Sophie Valleix, France Leturcq, Catherine Dodé, Thierry Bienvenu, Jamel Chelly, Mireille Cossée
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2013, 21 (9), pp.977-987. ⟨10.1038/ejhg.2012.279⟩
European Journal of Human Genetics; Vol 21
European Journal of Human Genetics, Nature Publishing Group, 2013, 21 (9), pp.977-987. ⟨10.1038/ejhg.2012.279⟩
European Journal of Human Genetics; Vol 21
International audience; he frequency of disease-related large rearrangements (referred to as copy-number mutations, CNMs) varies among genes, and search for these mutations has an important place in diagnostic strategies. In recent years, CGH method
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee11b1d4c6797c9bd29cbc374e21bfa0
https://hal.umontpellier.fr/hal-02441701
https://hal.umontpellier.fr/hal-02441701
Autor:
Pierre-Raphaël, Rothschild, Antoine P, Brézin, Brigitte, Nedelec, Cyril, Burin des Roziers, Tiffany, Ghiotti, Lucie, Orhant, Mathieu, Boimard, Sophie, Valleix
Publikováno v:
Molecular Vision
Purpose To report the clinical and molecular findings of a kindred with Wagner syndrome (WS) revealed by intraocular inflammatory features. Methods Eight available family members underwent complete ophthalmologic examination, including laser flare ce
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::252a1bd10bf0102408017f292b3645dd
https://pubmed.ncbi.nlm.nih.gov/24174867
https://pubmed.ncbi.nlm.nih.gov/24174867
Autor:
Jean-Michel Goujon, Mathieu Boimard, Corinne Lacombe, Violaine Planté-Bordeneuve, Philip N. Hawkins, Monica Stoppini, Julie A. Vrana, Mark B. Pepys, Guy Touchard, Vittorio Bellotti, Riccardo Porcari, Thierry Maisonobe, Franck Bridoux, Sophie Valleix, Julian D. Gillmore, Ahmet Dogan, Martino Bolognesi, Jason D. Theis, Pierre Lozeron, Sofia Giorgetti, Marc Delpech, Catherine Lacroix, Stefano Ricagno, David H. Adams, Brigitte Nedelec, Palma Mangione
Publikováno v:
New England Journal of Medicine
New England Journal of Medicine, Massachusetts Medical Society, 2012, 366 (24), pp.2276-83. ⟨10.1056/NEJMoa1201356⟩
New England Journal of Medicine, Massachusetts Medical Society, 2012, 366 (24), pp.2276-83. 〈10.1056/NEJMoa1201356〉
New England Journal of Medicine, Massachusetts Medical Society, 2012, 366 (24), pp.2276-83. ⟨10.1056/NEJMoa1201356⟩
New England Journal of Medicine, Massachusetts Medical Society, 2012, 366 (24), pp.2276-83. 〈10.1056/NEJMoa1201356〉
International audience; We describe a kindred with slowly progressive gastrointestinal symptoms and autonomic neuropathy caused by autosomal dominant, hereditary systemic amyloidosis. The amyloid consists of Asp76Asn variant β(2)-microglobulin. Unli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f18435b30031fa045cb32f5f7758d6d3
https://hal.archives-ouvertes.fr/hal-00945706
https://hal.archives-ouvertes.fr/hal-00945706