Works matching IS 09646906 AND DT 2009 AND VI 18 AND IP 12

Results: 22
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    Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors.

    Published in:
    Human Molecular Genetics, 2009, v. 18, n. 12, p. 2099, doi. 10.1093/hmg/ddp133
    By:
    • Tan, Mei Hong;
    • Smith, Alexander J.;
    • Pawlyk, Basil;
    • Xu, Xiaoyun;
    • Liu, Xiaoqing;
    • Bainbridge, James B.;
    • Basche, Mark;
    • McIntosh, Jenny;
    • Tran, Hoai Viet;
    • Nathwani, Amit;
    • Li, Tiansen;
    • Ali, Robin R.
    Publication type:
    Article
    3

    SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.

    Published in:
    Human Molecular Genetics, 2009, v. 18, n. 12, p. 2257, doi. 10.1093/hmg/ddp161
    By:
    • Cliffe, Simon T.;
    • Kramer, Jamie M.;
    • Hussain, Khalid;
    • Robben, Joris H.;
    • de Jong, Eiko K.;
    • de Brouwer, Arjan P.;
    • Nibbeling, Esther;
    • Kamsteeg, Erik-Jan;
    • Wong, Melanie;
    • Prendiville, Julie;
    • James, Chela;
    • Padidela, Raja;
    • Becknell, Charlie;
    • van Bokhoven, Hans;
    • Deen, Peter M.T.;
    • Hennekam, Raoul C.M.;
    • Lindeman, Robert;
    • Schenck, Annette;
    • Roscioli, Tony;
    • Buckley, Michael F.
    Publication type:
    Article
    4

    Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.

    Published in:
    Human Molecular Genetics, 2009, v. 18, n. 12, p. 2149, doi. 10.1093/hmg/ddp148
    By:
    • Hucthagowder, Vishwanathan;
    • Morava, Eva;
    • Kornak, Uwe;
    • Lefeber, Dirk J.;
    • Fischer, Björn;
    • Dimopoulou, Aikaterini;
    • Aldinger, Annika;
    • Choi, Jiwon;
    • Davis, Elaine C.;
    • Abuelo, Dianne N.;
    • Adamowicz, Maciej;
    • Al-Aama, Jumana;
    • Basel-Vanagaite, Lina;
    • Fernandez, Bridget;
    • Greally, Marie T.;
    • Gillessen-Kaesbach, Gabriele;
    • Kayserili, Hulya;
    • Lemyre, Emmanuelle;
    • Tekin, Mustafa;
    • Türkmen, Seval
    Publication type:
    Article
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    Association between invasive ovarian cancer susceptibility and 11 best candidate SNPs from breast cancer genome-wide association study.

    Published in:
    Human Molecular Genetics, 2009, v. 18, n. 12, p. 2297
    By:
    • Song, Honglin;
    • Ramus, Susan J.;
    • Kjaer, Susanne Krüger;
    • DiCioccio, Richard A.;
    • Chenevix-Trench, Georgia;
    • Pearce, Celeste Leigh;
    • Hogdall, Estrid;
    • Whittemore, Alice S.;
    • McGuire, Valerie;
    • Hogdall, Claus;
    • Blaakaer, Jan;
    • Wu, Anna H.;
    • Van Den Berg, David J.;
    • Stram, Daniel O.;
    • Menon, Usha;
    • Gentry-Maharaj, Aleksandra;
    • Jacobs, Ian J.;
    • Webb, Penny M.;
    • Beesley, Jonathan;
    • Chen, Xiaoqing
    Publication type:
    Article
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    Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching.

    Published in:
    Human Molecular Genetics, 2009, v. 18, n. 12, p. 2188, doi. 10.1093/hmg/ddp151
    By:
    • Carvalho, Claudia M.B.;
    • Zhang, Feng;
    • Liu, Pengfei;
    • Patel, Ankita;
    • Sahoo, Trilochan;
    • Bacino, Carlos A.;
    • Shaw, Chad;
    • Peacock, Sandra;
    • Pursley, Amber;
    • Tavyev, Y. Jane;
    • Ramocki, Melissa B.;
    • Nawara, Magdalena;
    • Obersztyn, Ewa;
    • Vianna-Morgante, Angela M.;
    • Stankiewicz, Pawel;
    • Zoghbi, Huda Y.;
    • Cheung, Sau Wai;
    • Lupski, James R.
    Publication type:
    Article
    10

    Subscription Page.

    Published in:
    Human Molecular Genetics, 2009, v. 18, n. 12, p. NP, doi. 10.1093/hmg/ddp200
    Publication type:
    Article
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    Genome-wide scan identifies CDH13 as a novel susceptibility locus contributing to blood pressure determination in two European populations.

    Published in:
    Human Molecular Genetics, 2009, v. 18, n. 12, p. 2288, doi. 10.1093/hmg/ddp135
    By:
    • Org, Elin;
    • Eyheramendy, Susana;
    • Juhanson, Peeter;
    • Gieger, Christian;
    • Lichtner, Peter;
    • Klopp, Norman;
    • Veldre, Gudrun;
    • Döring, Angela;
    • Viigimaa, Margus;
    • Sõber, Siim;
    • Tomberg, Kärt;
    • Eckstein, Gertrud;
    • Kelgo, Piret;
    • Rebane, Tiina;
    • Shaw-Hawkins, Sue;
    • Howard, Philip;
    • Onipinla, Abiodun;
    • Dobson, Richard J.;
    • Newhouse, Stephen J.;
    • Brown, Morris
    Publication type:
    Article
    16

    Contents Page.

    Published in:
    Human Molecular Genetics, 2009, v. 18, n. 12, p. NP, doi. 10.1093/hmg/ddp197
    Publication type:
    Article
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    Editorial Board.

    Published in:
    Human Molecular Genetics, 2009, v. 18, n. 12, p. NP, doi. 10.1093/hmg/ddp199
    Publication type:
    Article
    20

    Cover Page.

    Published in:
    Human Molecular Genetics, 2009, v. 18, n. 12, p. NP, doi. 10.1093/hmg/ddp198
    Publication type:
    Article
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    Five new TTF1/NKX2.1 mutations in brain–lung–thyroid syndrome: rescue by PAX8 synergism in one case.

    Published in:
    Human Molecular Genetics, 2009, v. 18, n. 12, p. 2266, doi. 10.1093/hmg/ddp162
    By:
    • Carré, Aurore;
    • Szinnai, Gabor;
    • Castanet, Mireille;
    • Sura-Trueba, Sylvia;
    • Tron, Elodie;
    • Broutin-L’Hermite, Isabelle;
    • Barat, Pascal;
    • Goizet, Cyril;
    • Lacombe, Didier;
    • Moutard, Marie-Laure;
    • Raybaud, Christine;
    • Raynaud-Ravni, Catherine;
    • Romana, Serge;
    • Ythier, Hubert;
    • Léger, Juliane;
    • Polak, Michel
    Publication type:
    Article