Works matching IS 15524825 AND DT 2013 AND VI 161A AND IP 6

Results: 54
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    Clinical correlations of mutations affecting six components of the SWI/ SNF complex: Detailed description of 21 patients and a review of the literature.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1221, doi. 10.1002/ajmg.a.35933
    By:
    • Kosho, Tomoki;
    • Okamoto, Nobuhiko;
    • Ohashi, Hirofumi;
    • Tsurusaki, Yoshinori;
    • Imai, Yoko;
    • Hibi‐Ko, Yumiko;
    • Kawame, Hiroshi;
    • Homma, Tomomi;
    • Tanabe, Saori;
    • Kato, Mitsuhiro;
    • Hiraki, Yoko;
    • Yamagata, Takanori;
    • Yano, Shoji;
    • Sakazume, Satoru;
    • Ishii, Takuma;
    • Nagai, Toshiro;
    • Ohta, Tohru;
    • Niikawa, Norio;
    • Mizuno, Seiji;
    • Kaname, Tadashi
    Publication type:
    Article
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    A de novo GLI 3 mutation in a patient with acrocallosal syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1394, doi. 10.1002/ajmg.a.35874
    By:
    • Speksnijder, Leonie;
    • Cohen‐Overbeek, Titia E.;
    • Knapen, Maarten F.C.M.;
    • Lunshof, Simone M.;
    • Hoogeboom, A. Jeannette M.;
    • van den Ouwenland, Ans M.;
    • de Coo, Irenaneus F.M.;
    • Lequin, Maarten H.;
    • Bolz, Hanno J.;
    • Bergmann, Carsten;
    • Biesecker, Leslie G.;
    • Willems, Patrick J.;
    • Wessels, Marja W.
    Publication type:
    Article
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    Additional evidence to support the role of the 20q13.33 region in susceptibility to autism.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1505, doi. 10.1002/ajmg.a.35878
    By:
    • Mosca‐Boidron, Anne‐Laure;
    • Valduga, Mylène;
    • Thauvin‐Robinet, Christel;
    • Lagarde, Nathalie;
    • Marle, Nathalie;
    • Henry, Céline;
    • Pinoit, Jean‐Michel;
    • Huet, Frédéric;
    • Béri‐Deixheimer, Mylène;
    • Ragon, Clémence;
    • Gueneau, Lucie;
    • Payet, Muriel;
    • Callier, Patrick;
    • Mugneret, Francine;
    • Jonveaux, Philippe;
    • Faivre, Laurence
    Publication type:
    Article
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    Severe Cenani-Lenz syndrome caused by loss of LRP4 function.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1475, doi. 10.1002/ajmg.a.35920
    By:
    • Kariminejad, Ariana;
    • Stollfuß, Barbara;
    • Li, Yun;
    • Bögershausen, Nina;
    • Boss, Karin;
    • Hennekam, Raoul C.M.;
    • Wollnik, Bernd
    Publication type:
    Article
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    Discordant chromosome placental mosaicism in a dichorionic twin pregnancy.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1498, doi. 10.1002/ajmg.a.35902
    By:
    • Silva, Marisa;
    • Caetano, Paula;
    • Olival, Vanessa;
    • Alves, Cristina;
    • Simão, Laurentino;
    • Ferreira, Cristina;
    • Marques, Bárbara;
    • Furtado, José;
    • Ventura, Catarina;
    • Soares, Sérgio;
    • Correia, Hildeberto
    Publication type:
    Article
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    Case of genochondromatosis type I in an 8-year-old boy.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1513, doi. 10.1002/ajmg.a.35924
    By:
    • Lee, Yoon Seok;
    • Dan, Jinmyoung;
    • Ryu, Keun Jung;
    • Kim, Byung Kook;
    • Han, Soo‐Hong;
    • Kim, Hyeong Jong
    Publication type:
    Article
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    In this issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. x, doi. 10.1002/ajmg.a.36014
    Publication type:
    Article
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    Partial tetrasomy 14 associated with multiple malformations.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1284, doi. 10.1002/ajmg.a.35887
    By:
    • Winberg, Johanna;
    • Lagerstedt Robinson, Kristina;
    • Naess, Karin;
    • Lesko, Nicole;
    • Wibom, Rolf;
    • Liedén, Agne;
    • Anderlid, Britt‐Marie;
    • Graff, Caroline;
    • Nordenskjöld, Agneta;
    • Nordgren, Ann;
    • Gustavsson, Peter
    Publication type:
    Article
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    Mucopolysaccharidosis type VI: A predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene Mucopolysaccharidosis Type VI: A Predominantly Cardiac Phenotype Associated With Homozygosity for p.R152W Mutation in the ARSB Gene

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1291, doi. 10.1002/ajmg.a.35905
    By:
    • Jurecka, Agnieszka;
    • Zakharova, Ekaterina;
    • Cimbalistiene, Loreta;
    • Gusina, Nina;
    • Kulpanovich, Anna;
    • Golda, Adam;
    • Opoka‐Winiarska, Violetta;
    • Piotrowska, Ewa;
    • Voskoboeva, Elena;
    • Tylki‐Szymańska, Anna
    Publication type:
    Article
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    Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1354, doi. 10.1002/ajmg.a.35938
    By:
    • Caparrós‐Martin, José A.;
    • Valencia, María;
    • Pulido, Veronica;
    • Martínez‐Glez, Victor;
    • Rueda‐Arenas, Inmaculada;
    • Amr, Khalda;
    • Farra, Chantal;
    • Lapunzina, Pablo;
    • Ruiz‐Perez, Victor L.;
    • Temtamy, Samia;
    • Aglan, Mona
    Publication type:
    Article
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