Works matching IS 15524825 AND DT 2012 AND VI 158A AND IP 6

Results: 52
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    De novo duplication and deletions at 7q in a three-generation family.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1493, doi. 10.1002/ajmg.a.35332
    By:
    • Isidor, Bertrand;
    • Villa, Olaya;
    • Pichon, Olivier;
    • Briand, Annaig;
    • Poulain, Damien;
    • Boisseau, Pierre;
    • Pérez-Jurado, Luis Alberto;
    • Le Caignec, Cédric
    Publication type:
    Article
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    Brain abnormalities in patients with Beckwith-Wiedemann syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1388, doi. 10.1002/ajmg.a.35358
    By:
    • Gardiner, Kate;
    • Chitayat, David;
    • Choufani, Sanaa;
    • Shuman, Cheryl;
    • Blaser, Susan;
    • Terespolsky, Deborah;
    • Farrell, Sandra;
    • Reiss, Rosemary;
    • Wodak, Shoshana;
    • Pu, Shuye;
    • Ray, Peter N.;
    • Baskin, Berivan;
    • Weksberg, Rosanna
    Publication type:
    Article
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    Confirmation of the Zechi-Ceide syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1467, doi. 10.1002/ajmg.a.35360
    By:
    • Patil, Siddaramappa J.;
    • Bhat, Venkatraman;
    • Dalal, Ashwin;
    • Santosh, J. Samuel
    Publication type:
    Article
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    The face signature of fibrodysplasia ossificans progressiva.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1368, doi. 10.1002/ajmg.a.35346
    By:
    • Hammond, Peter;
    • Suttie, Michael;
    • Hennekam, Raoul C.;
    • Allanson, Judith;
    • Shore, Eileen M.;
    • Kaplan, Frederick S.
    Publication type:
    Article
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    Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1344, doi. 10.1002/ajmg.a.35339
    By:
    • Mendoza-Londono, Roberto;
    • Chitayat, David;
    • Kahr, Walter H.A.;
    • Hinek, Aleksander;
    • Blaser, Susan;
    • Dupuis, Lucie;
    • Goh, Elaine;
    • Badilla-Porras, Ramses;
    • Howard, Andrew;
    • Mittaz, Laureane;
    • Superti-Furga, Andrea;
    • Unger, Sheila;
    • Nishimura, Gen;
    • Bonafe, Luisa
    Publication type:
    Article
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    Candidate locus analysis for PHACE syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1363, doi. 10.1002/ajmg.a.35341
    By:
    • Mitchell, Sheri;
    • Siegel, Dawn H.;
    • Shieh, Joseph T.C.;
    • Stevenson, David A.;
    • Grimmer, J. Fredrik;
    • Lewis, Tracey;
    • Metry, Denise;
    • Frieden, Ilona;
    • Blei, Francine;
    • Kayserili, Hulya;
    • Drolet, Beth A.;
    • Bayrak-Toydemir, Pinar
    Publication type:
    Article
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    Germline mosaicism in Cornelia de Lange syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1481, doi. 10.1002/ajmg.a.35381
    By:
    • Slavin, Thomas P.;
    • Lazebnik, Noam;
    • Clark, Dinah M.;
    • Vengoechea, Jaime;
    • Cohen, Leslie;
    • Kaur, Maninder;
    • Konczal, Laura;
    • Crowe, Carol A.;
    • Corteville, Jane E.;
    • Nowaczyk, Malgorzata J.;
    • Byrne, Janice L.;
    • Jackson, Laird G.;
    • Krantz, Ian D.
    Publication type:
    Article
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    Familial distal monosomy 3p26.3-pter with trisomy 4q32.2-qter, presenting with progressive ataxia, intellectual disability, and dysmorphic features.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1442, doi. 10.1002/ajmg.a.35345
    By:
    • Petriczko, Elzbieta;
    • Biczysko-Mokosa, Agnieszka;
    • Bogdanowicz, Joanna;
    • Constantinou, Maria;
    • Zdziennicka, Elzbieta;
    • Horodnicka-Jozwa, Anita;
    • Barg, Ewa;
    • Gawlik-Zawislak, Sylwia;
    • Sulek-Piatkowska, Anna;
    • Dawid, Grazyna;
    • Walczak, Mieczysław;
    • Pesz, Karolina;
    • Kedzia, Andrzej;
    • Zajaczek, Stanislaw
    Publication type:
    Article
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    Ambiguous genitalia: What prenatal genetic testing is practical?

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1337, doi. 10.1002/ajmg.a.35338
    By:
    • Adam, Margaret P.;
    • Fechner, Patricia Y.;
    • Ramsdell, Linda A.;
    • Badaru, Angela;
    • Grady, Richard E.;
    • Pagon, Roberta A.;
    • McCauley, Elizabeth;
    • Cheng, Edith Y.;
    • Parisi, Melissa A.;
    • Shnorhavorian, Margarett
    Publication type:
    Article
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    FG syndrome: The FGS2 locus revisited.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1489, doi. 10.1002/ajmg.a.35322
    By:
    • Perche, Olivier;
    • Laudier, Béatrice;
    • Menuet, Arnaud;
    • Odent, Sylvie;
    • Laumonnier, Frederic;
    • Briault, Sylvain
    Publication type:
    Article
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    The idic(15) syndrome: Expanding the phenotype.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1505, doi. 10.1002/ajmg.a.35366
    By:
    • Galizia, Elizabeth Caruana;
    • Palmer, Rodger;
    • Waters, Jonathan J.;
    • Koepp, Matthias J.;
    • Hennekam, Raoul C.M.;
    • Sisodiya, Sanjay M.
    Publication type:
    Article
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    A co-occurrence of osteogenesis imperfecta type VI and cystinosis.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1422, doi. 10.1002/ajmg.a.35319
    By:
    • Tucker, Tracy;
    • Nelson, Tanya;
    • Sirrs, Sandra;
    • Roughley, Peter;
    • Glorieux, Francis H.;
    • Moffatt, Pierre;
    • Schlade-Bartusiak, Kamilla;
    • Brown, Lindsay;
    • Rauch, Frank
    Publication type:
    Article
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