Works matching IS 15524825 AND DT 2013 AND VI 161A AND IP 7

Results: 54
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    Focal dermal hypoplasia (goltz-gorlin syndrome): A new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1750, doi. 10.1002/ajmg.a.35964
    By:
    • Garavelli, Livia;
    • Simonte, Graziella;
    • Rosato, Simonetta;
    • Wischmeijer, Anita;
    • Albertini, Enrico;
    • Guareschi, Elisa;
    • Longo, Caterina;
    • Albertini, Giuseppe;
    • Gelmini, Chiara;
    • Greco, Chiara;
    • Errico, Stefania;
    • Savino, Gustavo;
    • Pavanello, Marco;
    • Happle, Rudolf;
    • Unger, Sheila;
    • Superti‐Furga, Andrea;
    • Grzeschik, Karl‐Heinz
    Publication type:
    Article
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    Familial trisomy 6p in mother and daughter.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1675, doi. 10.1002/ajmg.a.35928
    By:
    • Savarese, Marco;
    • Grandone, Anna;
    • Perone, Lucia;
    • Blanco, Francesca Del Vecchio;
    • De Luca, Giuseppina;
    • Di Fruscio, Giuseppina;
    • Fogu, Giuseppina;
    • Piluso, Giulio;
    • Perrone, Laura;
    • del Giudice, Emanuele Miraglia;
    • Nigro, Vincenzo
    Publication type:
    Article
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    Expanding the phenotype associated with missense mutations of the ARX gene.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1813, doi. 10.1002/ajmg.a.36003
    By:
    • Charzewska, Agnieszka;
    • Nawara, Magdalena;
    • Jakubiuk‐Tomaszuk, Anna;
    • Obersztyn, Ewa;
    • Hoffman‐Zacharska, Dorota;
    • Elert, Ewelina;
    • Jurek, Marta;
    • Bartnik, Magdalena;
    • Poznański, Jarosław;
    • Bal, Jerzy
    Publication type:
    Article
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    Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1594, doi. 10.1002/ajmg.a.35970
    By:
    • Avila, Magali;
    • Kirchhoff, Maria;
    • Marle, Nathalie;
    • Hove, Hanna D.;
    • Chouchane, Mondher;
    • Thauvin‐Robinet, Christel;
    • Masurel, Alice;
    • Mosca‐Boidron, Anne‐Laure;
    • Callier, Patrick;
    • Mugneret, Francine;
    • Kjaergaard, Susanne;
    • Faivre, Laurence
    Publication type:
    Article
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    Progressive extreme heterotopic calcification.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1706, doi. 10.1002/ajmg.a.35944
    By:
    • Silengo, Margherita;
    • Defilippi, Claudio;
    • Belligni, Elga;
    • Biamino, Elisa;
    • Flex, Elisabetta;
    • Brusco, Alfredo;
    • Ferrero, Giovanni Battista;
    • Tartaglia, Marco;
    • Hennekam, Raoul C.
    Publication type:
    Article
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    Descriptive epidemiology of idiopathic clubfoot.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1569, doi. 10.1002/ajmg.a.35955
    By:
    • Werler, Martha M.;
    • Yazdy, Mahsa M.;
    • Mitchell, Allen A.;
    • Meyer, Robert E.;
    • Druschel, Charlotte M.;
    • Anderka, Marlene;
    • Kasser, James R.;
    • Mahan, Susan T.
    Publication type:
    Article
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    Characterization of X-linked hypohidrotic ectodermal dysplasia (XL-HED) hair and sweat gland phenotypes using phototrichogram analysis and live confocal imaging.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1585, doi. 10.1002/ajmg.a.35959
    By:
    • Jones, Kyle B.;
    • Goodwin, Alice F.;
    • Landan, Maya;
    • Seidel, Kerstin;
    • Tran, Dong‐Kha;
    • Hogue, Jacob;
    • Chavez, Miquella;
    • Fete, Mary;
    • Yu, Wenli;
    • Hussein, Tarek;
    • Johnson, Ramsey;
    • Huttner, Kenneth;
    • Jheon, Andrew H.;
    • Klein, Ophir D.
    Publication type:
    Article
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    IN THIS ISSUE.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. x, doi. 10.1002/ajmg.a.36089
    Publication type:
    Article
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    Delineation of a region responsible for panhypopituitarism in 20p11.2.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1547, doi. 10.1002/ajmg.a.35921
    By:
    • Dayem‐Quere, Manal;
    • Giuliano, Fabienne;
    • Wagner‐Mahler, Kathy;
    • Massol, Christophe;
    • Crouzet‐Ozenda, Letizia;
    • Lambert, Jean‐Claude;
    • Karmous‐Benailly, Houda
    Publication type:
    Article
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    Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1543, doi. 10.1002/ajmg.a.35983
    By:
    • Kondo, Yukiko;
    • Koshimizu, Eriko;
    • Megarbane, Andre;
    • Hamanoue, Haruka;
    • Okada, Ippei;
    • Nishiyama, Kiyomi;
    • Kodera, Hirofumi;
    • Miyatake, Satoko;
    • Tsurusaki, Yoshinori;
    • Nakashima, Mitsuko;
    • Doi, Hiroshi;
    • Miyake, Noriko;
    • Saitsu, Hirotomo;
    • Matsumoto, Naomichi
    Publication type:
    Article
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    Daytime somnolence in an adult with smith-magenis syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1803, doi. 10.1002/ajmg.a.35936
    By:
    • Takenouchi, Toshiki;
    • Saito, Hideyuki;
    • Oishi, Naoki;
    • Fukushima, Hiroyuki;
    • Kosaki, Rika;
    • Torii, Chiharu;
    • Takahashi, Takao;
    • Kenjiro, Kosaki
    Publication type:
    Article
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