Works matching IS 10597794 AND DT 2012 AND VI 33 AND IP 8

Results: 23
    1

    Mutation update on the CHD7 gene involved in CHARGE syndrome.

    Published in:
    Human Mutation, 2012, v. 33, n. 8, p. 1149, doi. 10.1002/humu.22086
    By:
    • Janssen, Nicole;
    • Bergman, Jorieke E. H.;
    • Swertz, Morris A.;
    • Tranebjaerg, Lisbeth;
    • Lodahl, Marianne;
    • Schoots, Jeroen;
    • Hofstra, Robert M. W.;
    • van Ravenswaaij-Arts, Conny M. A.;
    • Hoefsloot, Lies H.
    Publication type:
    Article
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    Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis.

    Published in:
    Human Mutation, 2012, v. 33, n. 8, p. 1175, doi. 10.1002/humu.22111
    By:
    • Diggle, Christine P.;
    • Parry, David A.;
    • Logan, Clare V.;
    • Laissue, Paul;
    • Rivera, Carolina;
    • Restrepo, Carlos Martín;
    • Fonseca, Dora J.;
    • Morgan, Joanne E.;
    • Allanore, Yannick;
    • Fontenay, Michaela;
    • Wipff, Julien;
    • Varret, Mathilde;
    • Gibault, Laure;
    • Dalantaeva, Nadezhda;
    • Korbonits, Márta;
    • Zhou, Bowen;
    • Yuan, Gang;
    • Harifi, Ghita;
    • Cefle, Kivanc;
    • Palanduz, Sukru
    Publication type:
    Article
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    Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/ in vitro studies on BRCA1 and BRCA2 variants.

    Published in:
    Human Mutation, 2012, v. 33, n. 8, p. 1228, doi. 10.1002/humu.22101
    By:
    • Houdayer, Claude;
    • Caux-Moncoutier, Virginie;
    • Krieger, Sophie;
    • Barrois, Michel;
    • Bonnet, Françoise;
    • Bourdon, Violaine;
    • Bronner, Myriam;
    • Buisson, Monique;
    • Coulet, Florence;
    • Gaildrat, Pascaline;
    • Lefol, Cédrick;
    • Léone, Mélanie;
    • Mazoyer, Sylvie;
    • Muller, Danielle;
    • Remenieras, Audrey;
    • Révillion, Françoise;
    • Rouleau, Etienne;
    • Sokolowska, Joanna;
    • Vert, Jean-Philippe;
    • Lidereau, Rosette
    Publication type:
    Article
    12

    LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix.

    Published in:
    Human Mutation, 2012, v. 33, n. 8, p. 1182, doi. 10.1002/humu.22105
    By:
    • Haji-Seyed-Javadi, Ramona;
    • Jelodari-Mamaghani, Sahar;
    • Paylakhi, Seyed Hassan;
    • Yazdani, Shahin;
    • Nilforushan, Naveed;
    • Fan, Jian-Bing;
    • Klotzle, Brandy;
    • Mahmoudi, Mohammad Jafar;
    • Ebrahimian, Mohammad Jafar;
    • Chelich, Noori;
    • Taghiabadi, Ehsan;
    • Kamyab, Kambiz;
    • Boileau, Catherine;
    • Paisan-Ruiz, Coro;
    • Ronaghi, Mostafa;
    • Elahi, Elahe
    Publication type:
    Article
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    Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants.

    Published in:
    Human Mutation, 2012, v. 33, n. 8, p. 1161, doi. 10.1002/humu.22108
    By:
    • Kroos, Marian;
    • Hoogeveen-Westerveld, Marianne;
    • Michelakakis, Helen;
    • Pomponio, Robert;
    • Van der Ploeg, Ans;
    • Halley, Dicky;
    • Reuser, Arnold;
    • Augoustides-Savvopoulou, Persephone;
    • Ausems, Margreet;
    • Llona, Jose Barcena;
    • Bautista Lorite, Juan;
    • van der Beek, Nadine;
    • Bonafe, Luisa;
    • Cuk, Mario;
    • D'Hooghe, Marc;
    • Engelen, Baziel;
    • Farouk, A.;
    • Fumic, K.;
    • Garcia-Delgado, E.;
    • Herzog, Andreas
    Publication type:
    Article
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    Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.

    Published in:
    Human Mutation, 2012, v. 33, n. 8, p. 1261, doi. 10.1002/humu.22104
    By:
    • Nizon, Mathilde;
    • Huber, Céline;
    • De Leonardis, Fabio;
    • Merrina, Rodolphe;
    • Forlino, Antonella;
    • Fradin, Mélanie;
    • Tuysuz, Beyhan;
    • Abu-Libdeh, Bassam Y.;
    • Alanay, Yasemin;
    • Albrecht, Beate;
    • Al-Gazali, Lihadh;
    • Basaran, Sarenur Yilmaz;
    • Clayton-Smith, Jill;
    • Désir, Julie;
    • Gill, Harinder;
    • Greally, Marie T.;
    • Koparir, Erkan;
    • van Maarle, Merel C;
    • MacKay, Sara;
    • Mortier, Geert
    Publication type:
    Article
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    Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene associated myopathies.

    Published in:
    Human Mutation, 2012, v. 33, n. 8, p. 1310, doi. 10.1002/humu.22136
    By:
    • Klein, Andrea;
    • Lillis, Suzanne;
    • Munteanu, Iulia;
    • Scoto, Mariacristina;
    • Zhou, Haiyan;
    • Quinlivan, Ros;
    • Straub, Volker;
    • Manzur, Adnan Y.;
    • Roper, Helen;
    • Jeannet, Pierre-Yves;
    • Rakowicz, Wojtek;
    • Jones, David Hilton;
    • Jensen, Uffe Birk;
    • Wraige, Elizabeth;
    • Trump, Natalie;
    • Schara, Ulrike;
    • Lochmuller, Hanns;
    • Sarkozy, Anna;
    • Kingston, Helen;
    • Norwood, Fiona
    Publication type:
    Article