Works matching IS 15524825 AND DT 2011 AND VI 155A AND IP 11

Results: 52
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    Christianson syndrome in a patient with an interstitial Xq26.3 deletion.

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2771, doi. 10.1002/ajmg.a.34230
    By:
    • Tzschach, Andreas;
    • Ullmann, Reinhard;
    • Ahmed, Alischo;
    • Martin, Thomas;
    • Weber, Georg;
    • Decker-Schwering, Oliver;
    • Pauly, Fernand;
    • Shamdeen, Mohammed Ghiath;
    • Reith, Wolfgang;
    • Oehl-Jaschkowitz, Barbara
    Publication type:
    Article
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    MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions.

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2739, doi. 10.1002/ajmg.a.34274
    By:
    • Stevens, Servi J.C.;
    • van Ravenswaaij-Arts, Conny M.A.;
    • Janssen, Jannie W.H.;
    • Klein Wassink-Ruiter, Jolien S.;
    • van Essen, Anthonie J.;
    • Dijkhuizen, Trijnie;
    • van Rheenen, Jeroen;
    • Heuts-Vijgen, Regina;
    • Stegmann, Alexander P.A.;
    • Smeets, Eric E.J.G.L.;
    • Engelen, John J.M.
    Publication type:
    Article
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    Genetic contribution of bicuspid aortic valve morphology.

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2897, doi. 10.1002/ajmg.a.34278
    By:
    • Fernández, Borja;
    • Durán, Ana C.;
    • Fernández, M. Carmen;
    • Arqué, Josep M.;
    • Such, Miguel;
    • Sans-Coma, Valentín
    Publication type:
    Article
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    Ectopia lentis as the presenting and primary feature in Marfan syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2661, doi. 10.1002/ajmg.a.34245
    By:
    • Zadeh, Neda;
    • Bernstein, Jonathan A.;
    • Niemi, Anna Kaisa;
    • Dugan, Sarah;
    • Kwan, Andrea;
    • Liang, David;
    • Hyland, James C.;
    • Hoyme, H. Eugene;
    • Hudgins, Louanne;
    • Manning, Melanie A.
    Publication type:
    Article
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    De novo 5q14.3 translocation 121.5-kb upstream of MEF2C in a patient with severe intellectual disability and early-onset epileptic encephalopathy.

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2879, doi. 10.1002/ajmg.a.34289
    By:
    • Saitsu, Hirotomo;
    • Igarashi, Noboru;
    • Kato, Mitsuhiro;
    • Okada, Ippei;
    • Kosho, Tomoki;
    • Shimokawa, Osamu;
    • Sasaki, Yuki;
    • Nishiyama, Kiyomi;
    • Tsurusaki, Yoshinori;
    • Doi, Hiroshi;
    • Miyake, Noriko;
    • Harada, Naoki;
    • Hayasaka, Kiyoshi;
    • Matasumoto, Naomichi
    Publication type:
    Article
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    Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization.

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2754, doi. 10.1002/ajmg.a.34168
    By:
    • Freitas, Érika L.;
    • Gribble, Susan M.;
    • Simioni, Milena;
    • Vieira, Társis P.;
    • Silva-Grecco, Roseane L.;
    • Balarin, Marly A. S.;
    • Prigmore, Elena;
    • Krepischi-Santos, Ana C.;
    • Rosenberg, Carla;
    • Szuhai, Karoly;
    • van Haeringen, Arie;
    • Carter, Nigel P.;
    • Gil-da-Silva-Lopes, Vera Lúcia
    Publication type:
    Article
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    Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA).

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2609, doi. 10.1002/ajmg.a.34325
    By:
    • Vissers, Lisenka E.L.M.;
    • Fano, Virginia;
    • Martinelli, Diego;
    • Campos-Xavier, Belinda;
    • Barbuti, Domenico;
    • Cho, Tae-Joon;
    • Dursun, Ahmet;
    • Kim, Ok Hwa;
    • Lee, Sun Hee;
    • Timpani, Giuseppina;
    • Nishimura, Gen;
    • Unger, Sheila;
    • Sass, Jörn Oliver;
    • Veltman, Joris A.;
    • Brunner, Han G.;
    • Bonafé, Luisa;
    • Dionisi-Vici, Carlo;
    • Superti-Furga, Andrea
    Publication type:
    Article
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    Complex distal 10q rearrangement in a girl with mild intellectual disability: Follow up of the patient and review of the literature of non-acrocentric satellited chromosomes.

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2841, doi. 10.1002/ajmg.a.34259
    By:
    • Sarri, Catherine;
    • Douzgou, Sofia;
    • Gyftodimou, Yolanda;
    • Tümer, Zeynep;
    • Ravn, Kirstine;
    • Pasparaki, Angela;
    • Sarafidou, Theologia;
    • Kontos, Harry;
    • Kokotas, Haris;
    • Karadima, Georgia;
    • Grigoriadou, Maria;
    • Pandelia, Effie;
    • Theodorou, Virginia;
    • Moschonas, Nicholas K.;
    • Petersen, Michael B.
    Publication type:
    Article
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    Persistence of a monosomic cell line in a fetus with mosaic trisomy 8.

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2791, doi. 10.1002/ajmg.a.34236
    By:
    • Turchetti, Daniela;
    • Pompilii, Eva;
    • Magrini, Elisabetta;
    • Bonasoni, Maria Paola;
    • Pittalis, Maria Carla;
    • Segata, Maria;
    • Pession, Annalisa;
    • Santini, Donatella;
    • Pilu, Gianluigi;
    • Seri, Marco
    Publication type:
    Article
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    Adrenal function in Smith-Lemli-Opitz syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2732, doi. 10.1002/ajmg.a.34271
    By:
    • Bianconi, Simona E.;
    • Conley, Sandra K.;
    • Keil, Meg F.;
    • Sinaii, Ninet;
    • Rother, Kristina I.;
    • Porter, Forbes D.;
    • Stratakis, Constantine A.
    Publication type:
    Article
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