Works matching IS 09646906 AND DT 1998 AND VI 7 AND IP 3

Results: 33
    1

    Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation.

    Published in:
    Human Molecular Genetics, 1998, v. 7, n. 3, p. 507, doi. 10.1093/hmg/7.3.507
    By:
    • Marsh, Debbie J.;
    • Coulon, Valérie;
    • Lunetta, Kathryn L.;
    • Rocca‐Serra, Philippe;
    • Dahia, Patricia L. M.;
    • Zheng, Zimu;
    • Liaw, Danny;
    • Caron, Stacey;
    • Duboué, Bernadette;
    • Lin, Albert Y.;
    • Richardson, Anne‐Louise;
    • Bonnetblanc, Jean‐Marie;
    • Bressieux, Jean‐Marie;
    • Cabarrot‐Moreau, Agnés;
    • Chompret, Agnés;
    • Demange, Liliane;
    • Eeles, Rosalind A.;
    • Yahanda, Alan M.;
    • Fearon, Eric R.;
    • Fricker, Jean-Pierre
    Publication type:
    Article
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    Genetic and physical mapping of the McKusick-Kaufman syndrome.

    Published in:
    Human Molecular Genetics, 1998, v. 7, n. 3, p. 475, doi. 10.1093/hmg/7.3.475
    By:
    • Stone, Deborah L.;
    • Agarwala, Richa;
    • Schäffer, Alejandro A.;
    • Weber, James L.;
    • Vaske, David;
    • Oda, Takaya;
    • Chandrasekharappa, Settara C.;
    • Francomano, Clair A.;
    • Biesecker, Leslie G.
    Publication type:
    Article
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    Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR.

    Published in:
    Human Molecular Genetics, 1998, v. 7, n. 3, p. 355, doi. 10.1093/hmg/7.3.355
    By:
    • Cremers, Frans P. M.;
    • van de Pol, Dorien J. R.;
    • van Driel, Marc;
    • den Hollander, Anneke I.;
    • van Haren, Frank J. J.;
    • Knoers, Nine V. A. M.;
    • Tijmes, Nel;
    • Bergen, Arthur A. B.;
    • Rohrschneider, Klaus;
    • Blankenagel, Anita;
    • Pinckers, Alfred J. L. G.;
    • Deutman, August F.;
    • Hoyng, Carel B.
    Publication type:
    Article
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    The Δ ccr5 mutation conferring protection against HIV-1 in Caucasian populations has a single and recent origin in Northeastern Europe.

    Published in:
    Human Molecular Genetics, 1998, v. 7, n. 3, p. 399, doi. 10.1093/hmg/7.3.399
    By:
    • Libert, Frédérick;
    • Cochaux, Pascale;
    • Beckman, Gunhild;
    • Samson, Michel;
    • Aksenova, Marina;
    • Cao, Antonio;
    • Czeizel, Andrew;
    • Claustres, Mireille;
    • de la Rúa, Concepción;
    • Ferrari, Maurizio;
    • Ferrec, Claude;
    • Glover, Guillermo;
    • Grinde, Bjorn;
    • Güran, Sefik;
    • Kucinskas, Vaidutis;
    • Lavinha, Joao;
    • Mercier, Bernard;
    • Ogur, Gönül;
    • Peltonen, Leena;
    • Rosatelli, Cristina
    Publication type:
    Article
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    The mouse Mid1 gene: implications for the pathogenesis of Opitz syndrome and the evolution of the mammalian pseudoautosomal region.

    Published in:
    Human Molecular Genetics, 1998, v. 7, n. 3, p. 489, doi. 10.1093/hmg/7.3.489
    By:
    • Dal Zotto, Laura;
    • Quaderi, Nandita A.;
    • Elliott, Rosemary;
    • Lingerfelter, Patricia A.;
    • Carrel, Laura;
    • Valsecchi, Valentina;
    • Montini, Eugenio;
    • Yen, Chao‐Huang;
    • Chapman, Verne;
    • Kalcheva, Iveta;
    • Arrigo, Giulia;
    • Zuffardi, Orsetta;
    • Thomas, Sushma;
    • Willard, Huntington F.;
    • Ballabio, Andrea;
    • Disteche, Christine M.;
    • Rugarli, Elena I.
    Publication type:
    Article
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    Transmission of haplotypes of microsatellite markers rather than single marker alleles in the mapping of a putative type 1 diabetes susceptibility gene ( IDDM6 ).

    Published in:
    Human Molecular Genetics, 1998, v. 7, n. 3, p. 517, doi. 10.1093/hmg/7.3.517
    By:
    • Merriman, Tony R.;
    • Eaves, Iain A.;
    • Twells, Rebecca C. J.;
    • Merriman, Marilyn E.;
    • Danoy, Patrick A. C.;
    • Muxworthy, Claire E.;
    • Hunter, Kara M. D.;
    • Cox, Roger D.;
    • Cucca, Francesco;
    • McKinney, Patricia A.;
    • Shield, Julian P. H.;
    • Baum, J. David;
    • Tuomilehto, Jaakko;
    • Tuomilehto‐Wolf, Eva;
    • Ionesco‐Tirgoviste, C.;
    • Joner, Geir;
    • Thorsby, Erik;
    • Undlien, Dag E.;
    • Pociot, Flemming;
    • Nerup, Jørn
    Publication type:
    Article
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