Works matching IS 15524825 AND DT 2014 AND VI 164A AND IP 1

Results: 51
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    Screening of TGFBR 1, TGFBR 2, and FLNA in familial mitral valve prolapse.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 113, doi. 10.1002/ajmg.a.36211
    By:
    • Aalberts, Jan J.J.;
    • van Tintelen, J. Peter;
    • Oomen, Toon;
    • Bergman, Jorieke E.H.;
    • Halley, Dicky J.J.;
    • Jongbloed, Jan D.H.;
    • Suurmeijer, Albert J.H.;
    • van den Berg, Maarten P.
    Publication type:
    Article
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    In this issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. xii, doi. 10.1002/ajmg.a.36387
    Publication type:
    Article
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    A new case of a LUMBAR syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 204, doi. 10.1002/ajmg.a.36215
    By:
    • Golabi, Mahin;
    • An, Andrew C.;
    • Lopez, Christina;
    • Lee, Lauren;
    • Kwong, Michael;
    • Hall, Bryan D.
    Publication type:
    Article
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    Who should control genomic data?

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. x, doi. 10.1002/ajmg.a.36386
    Publication type:
    Article
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    Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 77, doi. 10.1002/ajmg.a.36203
    By:
    • Burgess, Trent;
    • Brown, Natasha J.;
    • Stark, Zornitza;
    • Bruno, Damien L.;
    • Oertel, Ralph;
    • Chong, Belinda;
    • Calabro, Vanessa;
    • Kornberg, Andrew;
    • Sanderson, Christine;
    • Kelly, Julian;
    • Howell, Katherine B.;
    • Savarirayan, Ravi;
    • Hinds, Rupert;
    • Greenway, Anthea;
    • Slater, Howard R.;
    • White, Susan M.
    Publication type:
    Article
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    Giant breast tumors in a patient with Beckwith-Wiedemann syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 182, doi. 10.1002/ajmg.a.36191
    By:
    • Cappuccio, Gerarda;
    • De Crescenzo, Agostina;
    • Ciancia, Giuseppe;
    • Canta, Luigi;
    • Moio, Marzia;
    • Mataro, Ilaria;
    • Varone, Valeria;
    • Pettinato, Guido;
    • Palumbo, Orazio;
    • Carella, Massimo;
    • Riccio, Andrea;
    • Brunetti‐Pierri, Nicola
    Publication type:
    Article
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    Expanding the spectrum of phenotypes associated with germline PIGA mutations: A child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 29, doi. 10.1002/ajmg.a.36184
    By:
    • van der Crabben, Saskia N.;
    • Harakalova, Magdalena;
    • Brilstra, Eva H.;
    • van Berkestijn, Frédérique M.C.;
    • Hofstede, Floris C.;
    • van Vught, Adrianus J.;
    • Cuppen, Edwin;
    • Kloosterman, Wigard;
    • Ploos van Amstel, Hans Kristian;
    • van Haaften, Gijs;
    • van Haelst, Mieke M.
    Publication type:
    Article
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    CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 177, doi. 10.1002/ajmg.a.36166
    By:
    • Pinson, Lucile;
    • Mannini, Linda;
    • Willems, Marjolaine;
    • Cucco, Francesco;
    • Sirvent, Nicolas;
    • Frebourg, Thierry;
    • Quarantotti, Valentina;
    • Collet, Corinne;
    • Schneider, Anouck;
    • Sarda, Pierre;
    • Geneviève, David;
    • Puechberty, Jacques;
    • Lefort, Geneviève;
    • Musio, Antonio
    Publication type:
    Article
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    Aortic aneurysm and craniosynostosis in a family with Cantu syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 231, doi. 10.1002/ajmg.a.36228
    By:
    • Hiraki, Yoko;
    • Miyatake, Satoko;
    • Hayashidani, Michiko;
    • Nishimura, Yutaka;
    • Matsuura, Hiroo;
    • Kamada, Masahiro;
    • Kawagoe, Takuji;
    • Yunoki, Keiji;
    • Okamoto, Nobuhiko;
    • Yofune, Hiroko;
    • Nakashima, Mitsuko;
    • Tsurusaki, Yoshinori;
    • Satisu, Hirotomo;
    • Murakami, Akira;
    • Miyake, Noriko;
    • Nishimura, Gen;
    • Matsumoto, Naomichi
    Publication type:
    Article
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    Enamel-renal-gingival syndrome and FAM20A mutations.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 1, doi. 10.1002/ajmg.a.36187
    By:
    • Kantaputra, Piranit Nik;
    • Kaewgahya, Massupa;
    • Khemaleelakul, Udomrat;
    • Dejkhamron, Prapai;
    • Sutthimethakorn, Suchitra;
    • Thongboonkerd, Visith;
    • Iamaroon, Anak
    Publication type:
    Article
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    Phenotypic and molecular characterization of 19q12q13.1 deletions: A report of five patients.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 62, doi. 10.1002/ajmg.a.36201
    By:
    • Chowdhury, Shimul;
    • Bandholz, Anne M.;
    • Parkash, Sandhya;
    • Dyack, Sarah;
    • Rideout, Andrea L.;
    • Leppig, Kathleen A.;
    • Thiese, Heidi;
    • Wheeler, Patricia G.;
    • Tsang, Marilyn;
    • Ballif, Blake C.;
    • Shaffer, Lisa G.;
    • Torchia, Beth S.;
    • Ellison, Jay W.;
    • Rosenfeld, Jill A.
    Publication type:
    Article
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    Trisomy 13 (Patau syndrome) and congenital heart defects.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 272, doi. 10.1002/ajmg.a.36193
    By:
    • Polli, Janaina B.;
    • de P. Groff, Daniela;
    • Petry, Patrícia;
    • Mattos, Vinícius F.;
    • Rosa, Rosana C. M.;
    • Zen, Paulo R. G.;
    • Graziadio, Carla;
    • Paskulin, Giorgio A.;
    • Rosa, Rafael F. M.
    Publication type:
    Article
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