Works matching IS 15524825 AND DT 2013 AND VI 161A AND IP 4

Results: 54
    1

    GenTAC registry report: Gender differences among individuals with genetically triggered thoracic aortic aneurysm and dissection.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 779, doi. 10.1002/ajmg.a.35836
    By:
    • Holmes, Kathryn W.;
    • Maslen, Cheryl L.;
    • Kindem, Mark;
    • Kroner, Barbara L.;
    • Song, Howard K.;
    • Ravekes, William;
    • Dietz, H.C.;
    • Weinsaft, Jonathan W.;
    • Roman, Mary J.;
    • Devereux, Richard B.;
    • Pyeritz, Reed E.;
    • Bavaria, Joseph;
    • Milewski, Karianna;
    • Milewicz, Dianna;
    • LeMaire, Scott A.;
    • Hendershot, Tabitha;
    • Eagle, Kim A.;
    • Tolunay, H. Eser;
    • Desvigne‐Nickens, Patrice;
    • Silberbach, Michael
    Publication type:
    Article
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    Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 671, doi. 10.1002/ajmg.a.35747
    By:
    • Plaisancié, Julie;
    • Bailleul‐Forestier, Isabelle;
    • Gaston, Véronique;
    • Vaysse, Fréderic;
    • Lacombe, Didier;
    • Holder‐Espinasse, Muriel;
    • Abramowicz, Marc;
    • Coubes, Christine;
    • Plessis, Ghislaine;
    • Faivre, Laurence;
    • Demeer, Bénédicte;
    • Vincent‐Delorme, Catherine;
    • Dollfus, Hélène;
    • Sigaudy, Sabine;
    • Guillén‐Navarro, Encarna;
    • Verloes, Alain;
    • Jonveaux, Philippe;
    • Martin‐Coignard, Dominique;
    • Colin, Estelle;
    • Bieth, Eric
    Publication type:
    Article
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    Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 822, doi. 10.1002/ajmg.a.35699
    By:
    • Burnside, Rachel D.;
    • Pappas, John G.;
    • Sacharow, Stephanie;
    • Applegate, Carolyn;
    • Hamosh, Ada;
    • Gadi, Inder K.;
    • Jaswaney, Vikram;
    • Keitges, Elisabeth;
    • Phillips, Karen K.;
    • Potluri, Venketaswara R.;
    • Risheg, Hiba;
    • Smith, Janice L.;
    • Tepperberg, Jim H.;
    • Schwartz, Stuart;
    • Papenhausen, Peter
    Publication type:
    Article
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    Postnatal brain and skull growth in an Apert syndrome mouse model.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 745, doi. 10.1002/ajmg.a.35805
    By:
    • Hill, Cheryl A.;
    • Martínez‐Abadías, Neus;
    • Motch, Susan M.;
    • Austin, Jordan R.;
    • Wang, Yingli;
    • Jabs, Ethylin Wang;
    • Richtsmeier, Joan T.;
    • Aldridge, Kristina
    Publication type:
    Article
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    Epilepsy in children with trisomy 18.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 696, doi. 10.1002/ajmg.a.35763
    By:
    • Kumada, Tomohiro;
    • Maihara, Toshiro;
    • Higuchi, Yoshihisa;
    • Nishida, Yoshinobu;
    • Taniguchi, Yoshihiro;
    • Fujii, Tatsuya
    Publication type:
    Article
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    Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 771, doi. 10.1002/ajmg.a.35833
    By:
    • Nolin, Sarah L.;
    • Sah, Sachin;
    • Glicksman, Anne;
    • Sherman, Stephanie L.;
    • Allen, Emily;
    • Berry‐Kravis, Elizabeth;
    • Tassone, Flora;
    • Yrigollen, Carolyn;
    • Cronister, Amy;
    • Jodah, Marcia;
    • Ersalesi, Nicole;
    • Dobkin, Carl;
    • Brown, W. Ted;
    • Shroff, Raghav;
    • Latham, Gary J.;
    • Hadd, Andrew G.
    Publication type:
    Article
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