Works matching IS 10597794 AND DT 2007 AND VI 28 AND IP 3

Results: 10
    1

    Diversity of cystathionine β-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion.

    Published in:
    Human Mutation, 2007, v. 28, n. 3, p. 255, doi. 10.1002/humu.20430
    By:
    • Vyletal, Petr;
    • Sokolová, Jitka;
    • Cooper, David N.;
    • Kraus, Jan P.;
    • Krawczak, Michael;
    • Pepe, Guglielmina;
    • Rickards, Olga;
    • Koch, Hans G.;
    • Linnebank, Michael;
    • Kluijtmans, Leo A. J.;
    • Blom, Henk J.;
    • Boers, Godfried H. J.;
    • Gaustadnes, Mette;
    • Skovby, Flemming;
    • Wilcken, Bridget;
    • Wilcken, David E. L.;
    • Andria, Generoso;
    • Sebastio, Gianfranco;
    • Naughten, Eileen R.;
    • Yap, Sufin
    Publication type:
    Article
    2

    Prevalence and functionality of paucimorphic and private MC4R mutations in a large, unselected European British population, scanned by meltMADGE.

    Published in:
    Human Mutation, 2007, v. 28, n. 3, p. 294, doi. 10.1002/humu.20404
    By:
    • Alharbi, Khalid K.;
    • Spanakis, Emmanuel;
    • Tan, Karen;
    • Smith, Matt J.;
    • Aldahmesh, Mohammed A.;
    • O'Dell, Sandra D.;
    • Sayer, Avan Aihie;
    • Lawlor, Debbie A.;
    • Ebrahim, Shah;
    • Davey Smith, George;
    • O'Rahilly, Stephen;
    • Farooqi, Sadaf;
    • Cooper, Cyrus;
    • Phillips, David I.W.;
    • Day, Ian N.M.
    Publication type:
    Article
    3

    Genotype-phenotype correlations in hereditary familial retinoblastoma.

    Published in:
    Human Mutation, 2007, v. 28, n. 3, p. 284, doi. 10.1002/humu.20443
    By:
    • Taylor, Melissa;
    • Dehainault, Catherine;
    • Desjardins, Laurence;
    • Doz, François;
    • Levy, Christine;
    • Sastre, Xavier;
    • Couturier, Jérôme;
    • Stoppa-Lyonnet, Dominique;
    • Houdayer, Claude;
    • Gauthier-Villars, Marion
    Publication type:
    Article
    4
    5

    Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.

    Published in:
    Human Mutation, 2007, v. 28, n. 3, p. 209, doi. 10.1002/humu.20429
    By:
    • Marini, Joan C.;
    • Forlino, Antonella;
    • Cabral, Wayne A.;
    • Barnes, Aileen M.;
    • San Antonio, James D.;
    • Milgrom, Sarah;
    • Hyland, James C.;
    • Körkkö, Jarmo;
    • Prockop, Darwin J.;
    • De Paepe, Anne;
    • Coucke, Paul;
    • Symoens, Sofie;
    • Glorieux, Francis H.;
    • Roughley, Peter J.;
    • Lund, Alan M.;
    • Kuurila-Svahn, Kaija;
    • Hartikka, Heini;
    • Cohn, Daniel H.;
    • Krakow, Deborah;
    • Mottes, Monica
    Publication type:
    Article
    6

    Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.

    Published in:
    Human Mutation, 2007, v. 28, n. 3, p. 265, doi. 10.1002/humu.20431
    By:
    • Zampino, Giuseppe;
    • Pantaleoni, Francesca;
    • Carta, Claudio;
    • Cobellis, Gilda;
    • Vasta, Isabella;
    • Neri, Cinzia;
    • Pogna, Edgar A.;
    • De Feo, Emma;
    • Delogu, Angelica;
    • Sarkozy, Anna;
    • Atzeri, Francesca;
    • Selicorni, Angelo;
    • Rauen, Katherine A.;
    • Cytrynbaum, Cheryl S.;
    • Weksberg, Rosanna;
    • Dallapiccola, Bruno;
    • Ballabio, Andrea;
    • Gelb, Bruce D.;
    • Neri, Giovanni;
    • Tartaglia, Marco
    Publication type:
    Article
    7

    Schimke immunoosseous dysplasia: suggestions of genetic diversity.

    Published in:
    Human Mutation, 2007, v. 28, n. 3, p. 273, doi. 10.1002/humu.20432
    By:
    • Clewing, J. Marietta;
    • Fryssira, Helen;
    • Goodman, David;
    • Smithson, Sarah F.;
    • Sloan, Emily A.;
    • Lou, Shu;
    • Huang, Yan;
    • Choi, Kunho;
    • Lücke, Thomas;
    • Alpay, Harika;
    • André, Jean-Luc;
    • Asakura, Yumi;
    • Biebuyck-Gouge, Nathalie;
    • Bogdanovic, Radovan;
    • Bonneau, Dominique;
    • Cancrini, Caterina;
    • Cochat, Pierre;
    • Cockfield, Sandra;
    • Collard, Laure;
    • Cordeiro, Isabel
    Publication type:
    Article
    8
    9
    10

    The interactive Factor H-atypical hemolytic uremic syndrome mutation database and website: update and integration of membrane cofactor protein and Factor I mutations with structural models.

    Published in:
    2007
    By:
    • Saunders, Rebecca E.;
    • Abarrategui-Garrido, Cynthia;
    • Frémeaux-Bacchi, Véronique;
    • Goicoechea de Jorge, Elena;
    • Goodship, Timothy H.J.;
    • López Trascasa, Margarita;
    • Noris, Marina;
    • Ponce Castro, Isabel Maria;
    • Remuzzi, Giuseppe;
    • Rodríguez de Córdoba, Santiago;
    • Sánchez-Corral, Pilar;
    • Skerka, Christine;
    • Zipfel, Peter F.;
    • Perkins, Stephen J.
    Publication type:
    Other