Works matching IS 15524825 AND DT 2013 AND VI 161A AND IP 3

Results: 39
    1

    Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variants.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 479, doi. 10.1002/ajmg.a.35761
    By:
    • D'Angelo, Carla Sustek;
    • Kohl, Ilana;
    • Varela, Monica Castro;
    • de Castro, Cláudia Irene Emílio;
    • Kim, Chong Ae;
    • Bertola, Débora Romeo;
    • Lourenço, Charles Marques;
    • Perez, Ana Beatriz Alvarez;
    • Koiffmann, Celia Priszkulnik
    Publication type:
    Article
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    Clinical consequences in truncating mutations in exon 34 of NOTCH2: Report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 518, doi. 10.1002/ajmg.a.35772
    By:
    • Narumi, Yoko;
    • Min, Byung‐Joo;
    • Shimizu, Kenji;
    • Kazukawa, Itsuro;
    • Sameshima, Kiyoko;
    • Nakamura, Koichi;
    • Kosho, Tomoki;
    • Rhee, Yumie;
    • Chung, Yoon‐Sok;
    • Kim, Ok‐Hwa;
    • Fukushima, Yoshimitsu;
    • Park, Woong‐Yang;
    • Nishimura, Gen
    Publication type:
    Article
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    Maternal vitamin K deficient embryopathy: Association with hyperemesis gravidarum and Crohn disease.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 417, doi. 10.1002/ajmg.a.35765
    By:
    • Toriello, Helga V.;
    • Erick, Miriam;
    • Alessandri, Jean‐Luc;
    • Bailey, Diana;
    • Brunetti‐Pierri, Nicola;
    • Cox, Helen;
    • Fryer, Alan;
    • Marty, Denise;
    • McCurdy, Charles;
    • Mulliken, John B.;
    • Murphy, Helen;
    • Omlor, Joseph;
    • Pauli, Richard M.;
    • Ranells, Judith D.;
    • Sanchez‐Valle, Amarillis;
    • Tobiasz, Ana;
    • Van Maldergem, Lionel;
    • Lin, Angela E.
    Publication type:
    Article
    8

    Possible association between complex congenital heart defects and 11p15 hypomethylation in three patients with severe Silver-Russell syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 572, doi. 10.1002/ajmg.a.35691
    By:
    • Ghanim, Mustafa;
    • Rossignol, Sylvie;
    • Delobel, Bruno;
    • Irving, Melita;
    • Miller, Owen;
    • Devisme, Louise;
    • Plennevaux, Jean‐Louis;
    • Lucidarme‐Rossi, Sophie;
    • Manouvrier, Sylvie;
    • Salah, Azzi;
    • Chivu, Olimpia;
    • Netchine, Irène;
    • Vincent‐Delorme, Catherine
    Publication type:
    Article
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    Perinatal and early infantile symptoms in congenital disorders of glycosylation.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 578, doi. 10.1002/ajmg.a.35702
    By:
    • Funke, Simone;
    • Gardeitchik, Thatjana;
    • Kouwenberg, Dorus;
    • Mohamed, Miski;
    • Wortmann, Saskia B.;
    • Korsch, Eckhard;
    • Adamowicz, Maciej;
    • Al‐Gazali, Lihadh;
    • Wevers, Ron A.;
    • Horvath, Adrienne;
    • Lefeber, Dirk J.;
    • Morava, Éva
    Publication type:
    Article
    18
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    Spectrum of mutations that cause distal arthrogryposis types 1 and 2B.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 550, doi. 10.1002/ajmg.a.35809
    By:
    • Beck, Anita E.;
    • McMillin, Margaret J.;
    • Gildersleeve, Heidi I.S.;
    • Kezele, Phillip R.;
    • Shively, Kathryn M.;
    • Carey, John C.;
    • Regnier, Michael;
    • Bamshad, Michael J.
    Publication type:
    Article
    20

    Two extraordinarily severe cases of Treacher Collins syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 445, doi. 10.1002/ajmg.a.35397
    By:
    • Bauer, Mislen;
    • Saldarriaga, Wilmar;
    • Wolfe, S. Anthony;
    • Beckwith, J. Bruce;
    • Frias, Jaime L.;
    • Cohen Jr., M. Michael
    Publication type:
    Article
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    Preconception folic acid supplementation and risk for chromosome 21 nondisjunction: A report from the National Down Syndrome Project.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 438, doi. 10.1002/ajmg.a.35796
    By:
    • Hollis, NaTasha D.;
    • Allen, Emily G.;
    • Oliver, Tiffany Renee;
    • Tinker, Stuart W.;
    • Druschel, Charlotte;
    • Hobbs, Charlotte A.;
    • O'Leary, Leslie A.;
    • Romitti, Paul A.;
    • Royle, Marjorie H.;
    • Torfs, Claudine P.;
    • Freeman, Sallie B.;
    • Sherman, Stephanie L.;
    • Bean, Lora J.H.
    Publication type:
    Article
    28

    8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 487, doi. 10.1002/ajmg.a.35767
    By:
    • Barber, John C.K.;
    • Rosenfeld, Jill A.;
    • Foulds, Nicola;
    • Laird, Sophie;
    • Bateman, Mark S.;
    • Thomas, N. Simon;
    • Baker, Samantha;
    • Maloney, Viv K.;
    • Anilkumar, Arayamparambil;
    • Smith, Wendy E.;
    • Banks, Valerie;
    • Ellingwood, Sara;
    • Kharbutli, Yara;
    • Mehta, Lakshmi;
    • Eddleman, Keith A.;
    • Marble, Michael;
    • Zambrano, Regina;
    • Crolla, John A.;
    • Lamb, Allen N.
    Publication type:
    Article
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    De novo unbalanced translocation leading to monosomy 9p24.3p24.1 and trisomy 19q13.42q13.43 characterized by microarray-based comparative genomic hybridization in a child with partial cortical dysplasia and craniofacial dysmorphisms without trigonocephaly

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 632, doi. 10.1002/ajmg.a.35777
    By:
    • Resta, Nicoletta;
    • De Cosmo, Lucrezia;
    • Susca, Francesco Claudio;
    • Capodiferro, Donatella;
    • Nardone, Anna Maria;
    • Pastorivo, Diana;
    • Bertoli, Marta;
    • Serlenga, Carmela;
    • Burattini, MariaGabriella;
    • Schettini, Federico;
    • Laforgia, Nicola
    Publication type:
    Article
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