Works matching IS 10597794 AND DT 2010 AND VI 31 AND IP 10

Results: 18
    1

    High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy.

    Published in:
    Human Mutation, 2010, v. 31, n. 10, p. 1134, doi. 10.1002/humu.21329
    By:
    • Thomas, Sophie;
    • Encha-Razavi, Ferechté;
    • Devisme, Louise;
    • Etchevers, Heather;
    • Bessieres-Grattagliano, Bettina;
    • Goudefroye, Géraldine;
    • Elkhartoufi, Nadia;
    • Pateau, Emilie;
    • Ichkou, Amale;
    • Bonnière, Maryse;
    • Marcorelle, Pascale;
    • Parent, Philippe;
    • Manouvrier, Sylvie;
    • Holder, Muriel;
    • Laquerrière, Annie;
    • Loeuillet, Laurence;
    • Roume, Joelle;
    • Martinovic, Jelena;
    • Mougou-Zerelli, Soumaya;
    • Gonzales, Marie
    Publication type:
    Article
    2

    Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.

    Published in:
    Human Mutation, 2010, v. 31, n. 10, p. E1709, doi. 10.1002/humu.21336
    By:
    • Coppieters, Frauke;
    • Casteels, Ingele;
    • Meire, Françoise;
    • De Jaegere, Sarah;
    • Hooghe, Sally;
    • van Regemorter, Nicole;
    • Van Esch, Hilde;
    • Matulevičienė, Aušra;
    • Nunes, Luis;
    • Meersschaut, Valérie;
    • Walraedt, Sophie;
    • Standaert, Lieve;
    • Coucke, Paul;
    • Hoeben, Heidi;
    • Kroes, Hester Y.;
    • Vande Walle, Johan;
    • de Ravel, Thomy;
    • Leroy, Bart P.;
    • De Baere, Elfride
    Publication type:
    Article
    3
    4

    LSDBs: Promise and Challenges.

    Published in:
    Human Mutation, 2010, v. 31, n. 10, p. v, doi. 10.1002/humu.21369
    By:
    • Romeo, Giovanni
    Publication type:
    Article
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    Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2.

    Published in:
    Human Mutation, 2010, v. 31, n. 10, p. 1125, doi. 10.1002/humu.21335
    By:
    • Aten, Emmelien;
    • Brasz, Lisa C.;
    • Bornholdt, Dorothea;
    • Hooijkaas, Ingeborg B.;
    • Porteous, Mary E.;
    • Sybert, Virginia P.;
    • Vermeer, Maarten H.;
    • Vossen, Rolf H.A.M.;
    • van der Wielen, Michiel J.R.;
    • Bakker, Egbert;
    • Breuning, Martijn H.;
    • Grzeschik, Karl-Heinz;
    • Oosterwijk, Jan C.;
    • den Dunnen, Johan T.
    Publication type:
    Article
    8

    Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.

    Published in:
    Human Mutation, 2010, v. 31, n. 10, p. 1142, doi. 10.1002/humu.21328
    By:
    • Johnston, Jennifer J.;
    • Sapp, Julie C.;
    • Turner, Joyce T.;
    • Amor, David;
    • Aftimos, Salim;
    • Aleck, Kyrieckos A.;
    • Bocian, Maureen;
    • Bodurtha, Joann N.;
    • Cox, Gerald F.;
    • Curry, Cynthia J.;
    • Day, Ruth;
    • Donnai, Dian;
    • Field, Michael;
    • Fujiwara, Ikuma;
    • Gabbett, Michael;
    • Gal, Moran;
    • Graham, John M.;
    • Hedera, Peter;
    • Hennekam, Raoul C.M.;
    • Hersh, Joseph H.
    Publication type:
    Article
    9

    Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.

    Published in:
    Human Mutation, 2010, v. 31, n. 10, p. 1117, doi. 10.1002/humu.21342
    By:
    • Cagnoli, Claudia;
    • Stevanin, Giovanni;
    • Brussino, Alessandro;
    • Barberis, Marco;
    • Mancini, Cecilia;
    • Margolis, Russell L.;
    • Holmes, Susan E.;
    • Nobili, Marcello;
    • Forlani, Sylvie;
    • Padovan, Sergio;
    • Pappi, Patrizia;
    • Zaros, Cécile;
    • Leber, Isabelle;
    • Ribai, Pascale;
    • Pugliese, Luisa;
    • Assalto, Corrado;
    • Brice, Alexis;
    • Migone, Nicola;
    • Dürr, Alexandra;
    • Brusco, Alfredo
    Publication type:
    Article
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