Works matching IS 15524825 AND DT 2019 AND VI 179 AND IP 10

Results: 26
    1

    Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2112, doi. 10.1002/ajmg.a.61334
    By:
    • Staretz‐Chacham, Orna;
    • Shukrun, Rachel;
    • Barel, Ortal;
    • Pode‐Shakked, Ben;
    • Pleniceanu, Oren;
    • Anikster, Yair;
    • Shalva, Nechama;
    • Ferreira, Carlos R.;
    • Ben‐Haim Kadosh, Admit;
    • Richardson, Justin;
    • Mane, Shrikant M.;
    • Hildebrandt, Friedhelm;
    • Vivante, Asaf
    Publication type:
    Article
    2
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    In This Issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 1911, doi. 10.1002/ajmg.a.61332
    Publication type:
    Article
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    Ellis‐van Creveld syndrome in a patient from Tanzania.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2034, doi. 10.1002/ajmg.a.61309
    By:
    • Dekker, Marieke C. J.;
    • Sadiq, Adnan M.;
    • Jusabani, Mubashir A.;
    • Mdavire, Vivian J.;
    • Baas, Frank;
    • Morton, David H.;
    • Hamel, Ben C. J.
    Publication type:
    Article
    8
    9

    Phenotype delineation of ZNF462 related syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2075, doi. 10.1002/ajmg.a.61306
    By:
    • Kruszka, Paul;
    • Hu, Tommy;
    • Hong, Sungkook;
    • Signer, Rebecca;
    • Cogné, Benjamin;
    • Isidor, Betrand;
    • Mazzola, Sarah E.;
    • Giltay, Jacques C.;
    • Gassen, Koen L. I.;
    • England, Eleina M.;
    • Pais, Lynn;
    • Ockeloen, Charlotte W.;
    • Sanchez‐Lara, Pedro A.;
    • Kinning, Esther;
    • Adams, Darius J.;
    • Treat, Kayla;
    • Torres‐Martinez, Wilfredo;
    • Bedeschi, Maria F.;
    • Iascone, Maria;
    • Blaney, Stephanie
    Publication type:
    Article
    10

    Anthropometric characteristics of newborns with Prader–Willi syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2067, doi. 10.1002/ajmg.a.61304
    By:
    • Salvatoni, Alessandro;
    • Moretti, Alex;
    • Grugni, Graziano;
    • Agosti, Massimo;
    • Azzolini, Sara;
    • Bonaita, Valentina;
    • Cianci, Paola;
    • Corica, Domenico;
    • Crinò, Antonino;
    • Delvecchio, Maurizio;
    • Ferraris, Silvio;
    • Greggio, Nella A.;
    • Iughetti, Lorenzo;
    • Licenziati, Maria R.;
    • Madeo, Simona F.;
    • Nosetti, Luana;
    • Pajno, Roberta;
    • Rutigliano, Irene;
    • Sacco, Michele;
    • Salvatore, Silvia
    Publication type:
    Article
    11
    12

    Lenz–Majewski syndrome in a patient from Egypt.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2039, doi. 10.1002/ajmg.a.61327
    By:
    • Afifi, Hanan H.;
    • Abdel‐Hamid, Mohamed S.;
    • Mehrez, Mennat I.;
    • El‐Kamah, Ghada;
    • Abdel‐Salam, Ghada M. H.
    Publication type:
    Article
    13

    Coffin–Lowry syndrome in Chinese.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2043, doi. 10.1002/ajmg.a.61323
    By:
    • Fung, Jasmine L. F.;
    • Rethanavelu, Kavitha;
    • Luk, Ho‐ming;
    • Ho, Matthew S. P.;
    • Lo, Ivan F. M.;
    • Chung, Brian H. Y.
    Publication type:
    Article
    14

    HIST1H1E heterozygous protein‐truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2049, doi. 10.1002/ajmg.a.61321
    By:
    • Burkardt, Deepika D'Cunha;
    • Zachariou, Anna;
    • Loveday, Chey;
    • Allen, Clare L.;
    • Amor, David J.;
    • Ardissone, Anna;
    • Banka, Siddharth;
    • Bourgois, Alexia;
    • Coubes, Christine;
    • Cytrynbaum, Cheryl;
    • Faivre, Laurence;
    • Marion, Gerard;
    • Horton, Rachel;
    • Kotzot, Dieter;
    • Lay‐Son, Guillermo;
    • Lees, Melissa;
    • Low, Karen;
    • Luk, Ho‐Ming;
    • Mark, Paul;
    • McConkie‐Rosell, Allyn
    Publication type:
    Article
    15

    Elements of morphology: Standard terminology for the teeth and classifying genetic dental disorders.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 1913, doi. 10.1002/ajmg.a.61316
    By:
    • Dure‐Molla, Muriel;
    • Fournier, Benjamin Philippe;
    • Manzanares, Maria Cristina;
    • Acevedo, Ana Carolina;
    • Hennekam, Raoul C.;
    • Friedlander, Lisa;
    • Boy‐Lefèvre, Marie‐Laure;
    • Kerner, Stephane;
    • Toupenay, Steve;
    • Garrec, Pascal;
    • Vi‐Fane, Brigite;
    • Felizardo, Rufino;
    • Berteretche, Marie‐Violaine;
    • Jordan, Laurence;
    • Ferré, François;
    • Clauss, François;
    • Jung, Sophie;
    • Chalendar, Myriam;
    • Troester, Sebastien;
    • Kawczynski, Marzena
    Publication type:
    Article
    16

    Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle‐opathies with Microcephaly, Dwarfism and Skeletal Abnormalities.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2056, doi. 10.1002/ajmg.a.61315
    By:
    • Karaca, Ender;
    • Posey, Jennifer E.;
    • Bostwick, Bret;
    • Liu, Pengfei;
    • Gezdirici, Alper;
    • Yesil, Gozde;
    • Coban Akdemir, Zeynep;
    • Bayram, Yavuz;
    • Harms, Frederike L.;
    • Meinecke, Peter;
    • Alawi, Malik;
    • Bacino, Carlos A.;
    • Sutton, V. Reid;
    • Kortüm, Fanny;
    • Lupski, James R.
    Publication type:
    Article
    17

    SOS1 mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature review.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2083, doi. 10.1002/ajmg.a.61312
    By:
    • Baban, Anwar;
    • Olivini, Nicole;
    • Lepri, Francesca Romana;
    • Calì, Federica;
    • Mucciolo, Mafalda;
    • Digilio, Maria C.;
    • Calcagni, Giulio;
    • di Mambro, Corrado;
    • Dallapiccola, Bruno;
    • Adorisio, Rachele;
    • Novelli, Antonio;
    • Drago, Fabrizio
    Publication type:
    Article
    18

    Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior years.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 1987, doi. 10.1002/ajmg.a.61310
    By:
    • Lin, Angela E.;
    • Prakash, Siddharth K.;
    • Andersen, Niels H.;
    • Viuff, Mette H.;
    • Levitsky, Lynne L.;
    • Rivera‐Davila, Michelle;
    • Crenshaw, Melissa L.;
    • Hansen, Lars;
    • Colvin, Mary K.;
    • Hayes, Frances J.;
    • Lilly, Evelyn;
    • Snyder, Emma A.;
    • Nader‐Eftekhari, Shahla;
    • Aldrich, Melissa B.;
    • Bhatt, Ami B.;
    • Prager, Laura M.;
    • Arenivas, Ana;
    • Skakkebaek, Anne;
    • Steeves, Marcie A.;
    • Kreher, Jeffrey B.
    Publication type:
    Article
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    Clinical and molecular analysis in Papillon–Lefèvre syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2124, doi. 10.1002/ajmg.a.61285
    By:
    • Machado, Renato A.;
    • Cuadra‐Zelaya, Florence J. M.;
    • Martelli‐Júnior, Hercílio;
    • Miranda, Roseli T.;
    • Casarin, Renato C. V.;
    • Corrêa, Mônica G.;
    • Nociti, Francisco;
    • Coletta, Ricardo D.
    Publication type:
    Article
    23
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    Publication schedule for 2019.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 1907, doi. 10.1002/ajmg.a.40461
    Publication type:
    Article
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