Works matching IS 15524825 AND DT 2015 AND VI 167A AND IP 3

Results: 36
    1

    In this issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. x, doi. 10.1002/ajmg.a.37021
    Publication type:
    Article
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    Renal complications in 6p duplication syndrome: Microarray-based investigation of the candidate gene(s) for the development of congenital anomalies of the kidney and urinary tract (CAKUT) and focal segmental glomerular sclerosis (FSGS).

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 592, doi. 10.1002/ajmg.a.36942
    By:
    • Yoshimura‐Furuhata, Megumi;
    • Nishimura‐Tadaki, Akira;
    • Amano, Yoshiro;
    • Ehara, Takashi;
    • Hamasaki, Yuko;
    • Muramatsu, Masaki;
    • Shishido, Seiichiro;
    • Aikawa, Atsushi;
    • Hamada, Riku;
    • Ishikura, Kenji;
    • Hataya, Hiroshi;
    • Hidaka, Yoshihiko;
    • Noda, Shunsuke;
    • Koike, Kenichi;
    • Wakui, Keiko;
    • Fukushima, Yoshimitsu;
    • Matsumoto, Naomichi;
    • Awazu, Midori;
    • Miyake, Noriko;
    • Kosho, Tomoki
    Publication type:
    Article
    7

    Anirdia-like phenotype caused by 6p25 dosage aberrations.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 524, doi. 10.1002/ajmg.a.36890
    By:
    • Arcot Sadagopan, Karthikeyan;
    • Liu, Grace T.;
    • Capasso, Jenina E.;
    • Wuthisiri, Wadakarn;
    • Keep, Rosanne B.;
    • Levin, Alex V.
    Publication type:
    Article
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    Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 545, doi. 10.1002/ajmg.a.36896
    By:
    • Leslie, Elizabeth J.;
    • O'Sullivan, James;
    • Cunningham, Michael L.;
    • Singh, Ankur;
    • Goudy, Steven L.;
    • Ababneh, Faroug;
    • Alsubaie, Lamia;
    • Ch'ng, Gaik‐Siew;
    • van der Laar, Ingrid M. B. H.;
    • M. Hoogeboom, A. Jeannette;
    • Dunnwald, Martine;
    • Kapoor, Seema;
    • Jiramongkolchai, Pawina;
    • Standley, Jennifer;
    • Manak, J. Robert;
    • Murray, Jeffrey C.;
    • Dixon, Michael J.
    Publication type:
    Article
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    Hypoplastic left heart syndrome and 21q22.3 deletion.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 579, doi. 10.1002/ajmg.a.36914
    By:
    • Ciocca, Laura;
    • Digilio, M. Cristina;
    • Lombardo, Antonietta;
    • D'Elia, Gemma;
    • Baban, Anwar;
    • Capolino, Rossella;
    • Petrocchi, Stefano;
    • Russo, Serena;
    • Sirleto, Pietro;
    • Roberti, M. Cristina;
    • Marino, Bruno;
    • Angioni, Adriano;
    • Dallapiccola, Bruno
    Publication type:
    Article
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    CRTAP mutation in a patient with Cole-Carpenter syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 587, doi. 10.1002/ajmg.a.36916
    By:
    • Balasubramanian, Meena;
    • Pollitt, Rebecca C.;
    • Chandler, Kate E.;
    • Mughal, M. Z.;
    • Parker, Michael J.;
    • Dalton, Ann;
    • Arundel, Paul;
    • Offiah, Amaka C.;
    • Bishop, Nicholas J.
    Publication type:
    Article
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    Biochemical abnormalities in Pearson syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 621, doi. 10.1002/ajmg.a.36939
    By:
    • Crippa, Beatrice Letizia;
    • Leon, Eyby;
    • Calhoun, Amy;
    • Lowichik, Amy;
    • Pasquali, Marzia;
    • Longo, Nicola
    Publication type:
    Article
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    Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: Six new patients.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 504, doi. 10.1002/ajmg.a.36882
    By:
    • Jedraszak, Guillaume;
    • Demeer, Bénédicte;
    • Mathieu‐Dramard, Michèle;
    • Andrieux, Joris;
    • Receveur, Aline;
    • Weber, Astrid;
    • Maye, Una;
    • Foulds, Nicola;
    • Temple, IK;
    • Crolla, John;
    • Alex‐Cordier, Marie‐Pierre;
    • Sanlaville, Damien;
    • Ewans, Lisa;
    • Wilson, Meredith;
    • Armstrong, Ruth;
    • Clarkson, Amanda;
    • Copin, Henri;
    • Morin, Gilles
    Publication type:
    Article
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    17q12 Microduplications: A challenge for clinicians.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 674, doi. 10.1002/ajmg.a.36905
    By:
    • Bertini, V.;
    • Orsini, A.;
    • Bonuccelli, A.;
    • Cambi, F.;
    • Del Pistoia, M.;
    • Vannozzi, I.;
    • Toschi, B.;
    • Saggese, G.;
    • Simi, P.;
    • Valetto, A.
    Publication type:
    Article
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    A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 461, doi. 10.1002/ajmg.a.36922
    By:
    • Terhal, Paulien A.;
    • Nievelstein, Rutger Jan A. J.;
    • Verver, Eva J. J.;
    • Topsakal, Vedat;
    • van Dommelen, Paula;
    • Hoornaert, Kristien;
    • Le Merrer, Martine;
    • Zankl, Andreas;
    • Simon, Marleen E. H.;
    • Smithson, Sarah F.;
    • Marcelis, Carlo;
    • Kerr, Bronwyn;
    • Clayton‐Smith, Jill;
    • Kinning, Esther;
    • Mansour, Sahar;
    • Elmslie, Frances;
    • Goodwin, Linda;
    • van der Hout, Annemarie H.;
    • Veenstra‐Knol, Hermine E.;
    • Herkert, Johanna C.
    Publication type:
    Article
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    Hepatoblastoma in a patient with methylmalonic aciduria.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 635, doi. 10.1002/ajmg.a.36925
    By:
    • Chan, Randall;
    • Mascarenhas, Leo;
    • Boles, Richard G;
    • Kerkar, Nanda;
    • Genyk, Yuri;
    • Venkatramani, Rajkumar
    Publication type:
    Article
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