Works matching IS 15524825 AND DT 2013 AND VI 161A AND IP 9

Results: 48
    1

    Trisomy 18p caused by a supernumerary marker with a chromosome 13/21 centromere: A possible recurrent chromosome aberration.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2363, doi. 10.1002/ajmg.a.36102
    By:
    • Plaja, Alberto;
    • Lloveras, Elisabet;
    • Martinez ‐ Bouzas, Cristina;
    • Barreña, Beatriz;
    • Campo, Miguel Del;
    • Fernández, Asunción;
    • Herrero, Marta;
    • Barranco, Laura;
    • Palau, Nuria;
    • López ‐ Aríztegui, M. Asunción;
    • Català, VicENç;
    • Tejada, Maria ‐ Isabel
    Publication type:
    Article
    2

    A case of Toriello-Carey syndrome with severe congenital tracheal stenosis.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2291, doi. 10.1002/ajmg.a.35861
    By:
    • Yokoo, Noritaka;
    • Marumo, Chieko;
    • Nishida, Yoshinobu;
    • Iio, Jun;
    • Maeda, Shinji;
    • Nonaka, Michiko;
    • Maihara, Toshiro;
    • Chujoh, Satoru;
    • Katayama, Tetsuo;
    • Sakazaki, Hisanori;
    • Matsumoto, Naomichi;
    • Okamoto, Nobuhiko
    Publication type:
    Article
    3
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    MLL2 and KDM6A mutations in patients with Kabuki syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2234, doi. 10.1002/ajmg.a.36072
    By:
    • Miyake, Noriko;
    • Koshimizu, Eriko;
    • Okamoto, Nobuhiko;
    • Mizuno, Seiji;
    • Ogata, Tsutomu;
    • Nagai, Toshiro;
    • Kosho, Tomoki;
    • Ohashi, Hirofumi;
    • Kato, Mitsuhiro;
    • Sasaki, Goro;
    • Mabe, Hiroyo;
    • Watanabe, Yoriko;
    • Yoshino, Makoto;
    • Matsuishi, Toyojiro;
    • Takanashi, Jun ‐ Ichi;
    • Shotelersuk, Vorasuk;
    • Tekin, Mustafa;
    • Ochi, Nobuhiko;
    • Kubota, Masaya;
    • Ito, Naoko
    Publication type:
    Article
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    Deletion of 14.7 Mb 2q32.3q33.3 with a marfanoid phenotype and hypothyroidism.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2347, doi. 10.1002/ajmg.a.36076
    By:
    • Tomaszewska, Agnieszka;
    • Podbiol ‐ PalENta, Agnieszka;
    • Boter, Marjan;
    • Geisler, Gabriela;
    • Wawrzkiewicz ‐ Witkowska, Angelika;
    • Galjaard, Robert ‐ Jan H.;
    • Zajączek, Stanislaw;
    • Srebniak, Malgorzata I.
    Publication type:
    Article
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    Microdeletion 5q14.3 and anomalies of brain development.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2124, doi. 10.1002/ajmg.a.36020
    By:
    • Hotz, Alrun;
    • HellENbroich, Yorck;
    • Sperner, JürgEN;
    • Linder ‐ Lucht, Michaela;
    • Tacke, Uta;
    • Walter, CarEN;
    • Caliebe, Almuth;
    • Nagel, Inga;
    • Saunders, Dawn E.;
    • Wolff, Gerhard;
    • Martin, Peter;
    • Morris ‐ RosENdahl, Deborah J.
    Publication type:
    Article
    14
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    Homozygosity for the V37I GJB 2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: Further confirmation of pathogenicity and haplotype analysis in Asian populations.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2148, doi. 10.1002/ajmg.a.36042
    By:
    • Gallant, Emily;
    • Francey, LaurEN;
    • Tsai, EllEN A.;
    • Berman, Micah;
    • Zhao, Yaru;
    • Fetting, Heather;
    • Kaur, Maninder;
    • Deardorff, Matthew A.;
    • WilkENs, Alisha;
    • Clark, Dinah;
    • Hakonarson, Hakon;
    • Rehm, Heidi L.;
    • Krantz, Ian D.
    Publication type:
    Article
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    Novel no-stop FLNA mutation causes multi-organ involvement in males.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2376, doi. 10.1002/ajmg.a.36109
    By:
    • Oegema, RENske;
    • Hulst, Jessie M.;
    • Theuns ‐ Valks, Sabine D.M.;
    • van UnEN, Leontine M.A.;
    • Schot, Rachel;
    • Mancini, Grazia M.S.;
    • Schipper, Marguerite E.I.;
    • de Wit, Marie C.Y.;
    • Sibbles, Barbara J.;
    • de Coo, IrENaeus F.M.;
    • Nanninga, Veerle;
    • Hofstra, Robert M.W.;
    • Halley, Dicky J.J.;
    • Brooks, Alice S.
    Publication type:
    Article
    20
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    The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: Is it really a reversed sotos syndrome?

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2158, doi. 10.1002/ajmg.a.36046
    By:
    • Dikow, Nicola;
    • Maas, Bianca;
    • Gaspar, Harald;
    • Kreiss ‐ Nachtsheim, Martina;
    • Engels, Hartmut;
    • Kuechler, Alma;
    • Garbes, Lutz;
    • Netzer, Christian;
    • Neuhann, Teresa M.;
    • Koehler, Udo;
    • Casteels, Kristina;
    • DevriENdt, KoEN;
    • JanssEN, Johannes W.G.;
    • Jauch, Anna;
    • Hinderhofer, Katrin;
    • Moog, Ute
    Publication type:
    Article
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    Endocrine abnormalities in townes-brocks syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2266, doi. 10.1002/ajmg.a.36104
    By:
    • LawrENce, Cara;
    • Hong ‐ McAtee, IrENe;
    • Hall, Bryan;
    • Hartsfield, James;
    • Rutherford, Andrew;
    • Bonilla, Tracy;
    • Bay, Carolyn
    Publication type:
    Article
    25

    Pure duplication of 19p13.3.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2300, doi. 10.1002/ajmg.a.36041
    By:
    • Ishikawa, Aki;
    • Enomoto, Keisuke;
    • Tominaga, Makiko;
    • Saito, Toshiyuki;
    • Nagai, Jun ‐ ichi;
    • Furuya, Noritaka;
    • UENo, KENtaro;
    • Ueda, Hideaki;
    • Masuno, Mitsuo;
    • Kurosawa, KENji
    Publication type:
    Article
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    PECONPI: A novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2134, doi. 10.1002/ajmg.a.36038
    By:
    • Tsai, EllEN A.;
    • Berman, Micah A.;
    • Conlin, Laura K.;
    • Rehm, Heidi L.;
    • Francey, LaurEN J.;
    • Deardorff, Matthew A.;
    • Holst, JENelle;
    • Kaur, Maninder;
    • Gallant, Emily;
    • Clark, Dinah M.;
    • Glessner, Joseph T.;
    • JENsEN, Shane T.;
    • Grant, Struan F.A.;
    • Gruber, Peter J.;
    • Hakonarson, Hakon;
    • Spinner, Nancy B.;
    • Krantz, Ian D.
    Publication type:
    Article
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    Pre- and postnatal findings in a patient with a novel rec(8)dup(8q)inv(8)(p23.2q22.3) associated with san luis valley syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2369, doi. 10.1002/ajmg.a.36103
    By:
    • Vera ‐ Carbonell, AscENsión;
    • López ‐ González, Vanesa;
    • Bafalliu, Juan Antonio;
    • Piñero ‐ Fernández, Juan;
    • Susmozas, Joaquín;
    • Sorli, Moisés;
    • López ‐ Pérez, Rocío;
    • Fernández, Asunción;
    • Guillén ‐ Navarro, Encarna;
    • López ‐ Expósito, Isabel
    Publication type:
    Article
    33

    A 2.84 Mb deletion at 21q22.11 in a patient clinically diagnosed with marden-walker syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2281, doi. 10.1002/ajmg.a.35862
    By:
    • Carrascosa ‐ Romero, María CarmEN;
    • Suela, Javier;
    • Pardal ‐ Fernández, José Manuel;
    • Bermejo ‐ Sánchez, Eva;
    • Vidal ‐ Company, Alberto;
    • MacDonald, Alexandra;
    • Tébar ‐ Gil, Roque;
    • Martínez ‐ Fernández, María Luisa;
    • Martínez ‐ Frías, María Luisa
    Publication type:
    Article
    34

    Narrative medicine: A call to pens.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2117, doi. 10.1002/ajmg.a.36114
    By:
    • Nowaczyk, Małgorzata J.M.;
    • Carey, John C.
    Publication type:
    Article
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    Hospital Deliveries.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2122, doi. 10.1002/ajmg.a.36033
    By:
    • Chiosi, Christine
    Publication type:
    Article
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    In this issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. xii, doi. 10.1002/ajmg.a.36169
    Publication type:
    Article
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    Testosterone replacement therapy to improve secondary sexual characteristics and body composition without adverse behavioral problems in adult male patients with Prader-Willi syndrome: An observational study.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2167, doi. 10.1002/ajmg.a.36048
    By:
    • Kido, Yasuhiro;
    • Sakazume, Satoru;
    • Abe, Yoshiko;
    • Oto, Yuji;
    • Itabashi, Hisashi;
    • Shiraishi, Masahisa;
    • Yoshino, Atsunori;
    • Tanaka, Yuriko;
    • Obata, Kazuo;
    • Murakami, Nobuyuki;
    • Nagai, Toshiro
    Publication type:
    Article
    46

    Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-Methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and leigh-Like Syndrome) caused by novel mutations in SERAC1.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2204, doi. 10.1002/ajmg.a.36059
    By:
    • Sarig, Ofer;
    • Goldsher, Dorit;
    • Nousbeck, Janna;
    • Fuchs ‐ Telem, Dana;
    • CohEN ‐ KatsENelson, KsENya;
    • Iancu, Theodore C.;
    • Manov, IrENa;
    • Saada, Ann;
    • Sprecher, Eli;
    • Mandel, Hanna
    Publication type:
    Article
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