Works matching IS 15524825 AND DT 2017 AND VI 173 AND IP 6

Results: 45
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    The path forward: 2015 International Children's Tumor Foundation conference on neurofibromatosis type 1, type 2, and schwannomatosis.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1714, doi. 10.1002/ajmg.a.38239
    By:
    • Blakeley, Jaishri O.;
    • Bakker, Annette;
    • Barker, Anne;
    • Clapp, Wade;
    • Ferner, Rosalie;
    • Fisher, Michael J.;
    • Giovannini, Marco;
    • Gutmann, David H.;
    • Karajannis, Matthias A.;
    • Kissil, Joseph L.;
    • Legius, Eric;
    • Lloyd, Alison C.;
    • Packer, Roger J.;
    • Ramesh, Vijaya;
    • Riccardi, Vincent M.;
    • Stevenson, David A.;
    • Ullrich, Nicole J.;
    • Upadhyaya, Meena;
    • Stemmer‐Rachamimov, Anat
    Publication type:
    Article
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    WAGR syndrome and congenital hypothyroidism in a child with a Mosaic 11p13 deletion.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1690, doi. 10.1002/ajmg.a.38206
    By:
    • Huynh, Minh Tuan;
    • Boudry‐Labis, Elise;
    • Duban, Bénédicte;
    • Andrieux, Joris;
    • Tran, Cong Toai;
    • Tampere, Heidi;
    • Ceraso, Delphine;
    • Manouvrier, Sylvie;
    • Tachdjian, Gérard;
    • Roche‐Lestienne, Catherine;
    • Vincent‐Delorme, Catherine
    Publication type:
    Article
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    A further family of Stromme syndrome carrying CENPF mutation.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1668, doi. 10.1002/ajmg.a.38173
    By:
    • Ozkinay, Ferda;
    • Atik, Tahir;
    • Isik, Esra;
    • Gormez, Zeliha;
    • Sagiroglu, Mahmut;
    • Sahin, Ozlem Atan;
    • Corduk, Nergul;
    • Onay, Huseyin
    Publication type:
    Article
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    Gene-gene interaction of single nucleotide polymorphisms in 16p13.3 may contribute to the risk of non-syndromic cleft lip with or without cleft palate in Chinese case-parent trios.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1489, doi. 10.1002/ajmg.a.38190
    By:
    • Liu, Dongjing;
    • Wang, Hong;
    • Schwender, Holger;
    • Marazita, Mary L.;
    • Wang, Zhuqing;
    • Yuan, Yuan;
    • Wang, Ping;
    • Liang, Kung Yee;
    • Wu‐Chou, Yah Huei;
    • Wang, Mengying;
    • Shi, Bing;
    • Zhu, Hongping;
    • Wu, Tao;
    • Beaty, Terri H.
    Publication type:
    Article
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    Lissencephaly: Expanded imaging and clinical classification.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1473, doi. 10.1002/ajmg.a.38245
    By:
    • Di Donato, Nataliya;
    • Chiari, Sara;
    • Mirzaa, Ghayda M.;
    • Aldinger, Kimberly;
    • Parrini, Elena;
    • Olds, Carissa;
    • Barkovich, A. James;
    • Guerrini, Renzo;
    • Dobyns, William B.
    Publication type:
    Article
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    Evaluation of QTc in Rett syndrome: Correlation with age, severity, and genotype.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1495, doi. 10.1002/ajmg.a.38191
    By:
    • Crosson, Jane;
    • Srivastava, Siddharth;
    • Bibat, Genila M.;
    • Gupta, Siddharth;
    • Kantipuly, Aditi;
    • Smith‐Hicks, Constance;
    • Myers, Scott M.;
    • Sanyal, Abanti;
    • Yenokyan, Gayane;
    • Brenner, Joel;
    • Naidu, Sakkubai R.
    Publication type:
    Article
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    Novel MCA/ID syndrome with ASH1L mutation.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1644, doi. 10.1002/ajmg.a.38193
    By:
    • Okamoto, Nobuhiko;
    • Miya, Fuyuki;
    • Tsunoda, Tatsuhiko;
    • Kato, Mitsuhiro;
    • Saitoh, Shinji;
    • Yamasaki, Mami;
    • Kanemura, Yonehiro;
    • Kosaki, Kenjiro
    Publication type:
    Article
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    Association studies of low-frequency coding variants in nonsyndromic cleft lip with or without cleft palate.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1531, doi. 10.1002/ajmg.a.38210
    By:
    • Leslie, Elizabeth J.;
    • Carlson, Jenna C.;
    • Shaffer, John R.;
    • Buxó, Carmen J.;
    • Castilla, Eduardo E.;
    • Christensen, Kaare;
    • Deleyiannis, Frederic W. B.;
    • Field, Leigh L.;
    • Hecht, Jacqueline T.;
    • Moreno, Lina;
    • Orioli, Ieda M.;
    • Padilla, Carmencita;
    • Vieira, Alexandre R.;
    • Wehby, George L.;
    • Feingold, Eleanor;
    • Weinberg, Seth M.;
    • Murray, Jeffrey C.;
    • Marazita, Mary L.
    Publication type:
    Article
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    Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experience.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1521, doi. 10.1002/ajmg.a.38212
    By:
    • Santoro, Claudia;
    • Di Rocco, Federico;
    • Kossorotoff, Manoelle;
    • Zerah, Michel;
    • Boddaert, Nathalie;
    • Calmon, Raphael;
    • Vidaud, Dominique;
    • Cirillo, Mario;
    • Cinalli, Giuseppe;
    • Mirone, Giuseppe;
    • Giugliano, Teresa;
    • Piluso, Giulio;
    • D'Amico, Alessandra;
    • Capra, Valeria;
    • Pavanello, Marco;
    • Cama, Armando;
    • Nobili, Bruno;
    • Lyonnet, Stanislas;
    • Perrotta, Silverio
    Publication type:
    Article
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    Variable phenotype in a novel mutation in PHOX2B.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1705, doi. 10.1002/ajmg.a.38218
    By:
    • Lombardo, Rachel C.;
    • Kramer, Elizabeth;
    • Cnota, James F.;
    • Sawnani, Hemant;
    • Hopkin, Robert J.
    Publication type:
    Article
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    Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry study.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1539, doi. 10.1002/ajmg.a.38219
    By:
    • Lavigne, Jenifer;
    • Sharr, Christianne;
    • Elsharkawi, Ibrahim;
    • Ozonoff, Al;
    • Baumer, Nicole;
    • Brasington, Campbell;
    • Cannon, Sheila;
    • Crissman, Blythe;
    • Davidson, Emily;
    • Florez, Jose C.;
    • Kishnani, Priya;
    • Lombardo, Angela;
    • Lyerly, Jordan;
    • McDonough, Mary Ellen;
    • Schwartz, Alison;
    • Berrier, Kathryn;
    • Sparks, Susan;
    • Stock‐Guild, Kara;
    • Toler, Tomi L.;
    • Vellody, Kishore
    Publication type:
    Article