Works matching IS 15524825 AND DT 2016 AND VI 170A AND IP 10

Results: 38
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    Update on the Toriello-Carey syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2551, doi. 10.1002/ajmg.a.37735
    By:
    • Toriello, Helga V.;
    • Colley, Chelsey;
    • Bamshad, Michael
    Publication type:
    Article
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    Sojourner in a foreign land.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2594, doi. 10.1002/ajmg.a.37738
    By:
    • Unger, Sheila
    Publication type:
    Article
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    Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2617, doi. 10.1002/ajmg.a.37739
    By:
    • Lin, Angela E.;
    • Michot, Caroline;
    • Cormier‐Daire, Valerie;
    • L'Ecuyer, Thomas J.;
    • Matherne, G. Paul;
    • Barnes, Barrett H.;
    • Humberson, Jennifer B.;
    • Edmondson, Andrew C.;
    • Zackai, Elaine;
    • O'Connor, Matthew J.;
    • Kaplan, Julie D.;
    • Ebeid, Makram R.;
    • Krier, Joel;
    • Krieg, Elizabeth;
    • Ghoshhajra, Brian;
    • Lindsay, Mark E.
    Publication type:
    Article
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    Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2559, doi. 10.1002/ajmg.a.37758
    By:
    • Gripp, Karen W.;
    • Baker, Laura;
    • Kandula, Vinay;
    • Conard, Katrina;
    • Scavina, Mena;
    • Napoli, Joseph A.;
    • Griffin, Gregory C.;
    • Thacker, Mihir;
    • Knox, Rachel G.;
    • Clark, Graeme R.;
    • Parker, Victoria E. R.;
    • Semple, Robert;
    • Mirzaa, Ghayda;
    • Keppler‐Noreuil, Kim M.
    Publication type:
    Article
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    Syndromes with supernumerary teeth.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2611, doi. 10.1002/ajmg.a.37763
    By:
    • Lubinsky, Mark;
    • Kantaputra, Piranit Nik
    Publication type:
    Article
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    Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2644, doi. 10.1002/ajmg.a.37771
    By:
    • Di Donato, Nataliya;
    • Kuechler, Alma;
    • Vergano, Samantha;
    • Heinritz, Wolfram;
    • Bodurtha, Joann;
    • Merchant, Sabiha R.;
    • Breningstall, Galen;
    • Ladda, Roger;
    • Sell, Susan;
    • Altmüller, Janine;
    • Bögershausen, Nina;
    • Timms, Andrew E.;
    • Hackmann, Karl;
    • Schrock, Evelin;
    • Collins, Sarah;
    • Olds, Carissa;
    • Rump, Andreas;
    • Dobyns, William B.
    Publication type:
    Article
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    Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped Phalanges.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2652, doi. 10.1002/ajmg.a.37772
    By:
    • Krakow, Deborah;
    • Cohn, Daniel H.;
    • Wilcox, William R.;
    • Noh, Grace J.;
    • Raffel, Leslie J.;
    • Sarukhanov, Anna;
    • Ivanova, Margarita H.;
    • Danielpour, Moise;
    • Grange, Dorothy K.;
    • Elliott, Alison M.;
    • Bernstein, Jonathan A.;
    • Rimoin, David L.;
    • Merrill, Amy E.;
    • Lachman, Ralph S.
    Publication type:
    Article
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    Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2662, doi. 10.1002/ajmg.a.37778
    By:
    • Miyake, Noriko;
    • Abdel‐Salam, Ghada;
    • Yamagata, Takanori;
    • Eid, Maha M.;
    • Osaka, Hitoshi;
    • Okamoto, Nobuhiko;
    • Mohamed, Amal M.;
    • Ikeda, Takahiro;
    • Afifi, Hanan H.;
    • Piard, Juliette;
    • van Maldergem, Lionel;
    • Mizuguchi, Takeshi;
    • Miyatake, Satoko;
    • Tsurusaki, Yoshinori;
    • Matsumoto, Naomichi
    Publication type:
    Article
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    CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2681, doi. 10.1002/ajmg.a.37800
    By:
    • Menke, Leonie A.;
    • van Belzen, Martine J.;
    • Alders, Marielle;
    • Cristofoli, Francesca;
    • Ehmke, Nadja;
    • Fergelot, Patricia;
    • Foster, Alison;
    • Gerkes, Erica H.;
    • Hoffer, Mariëtte J. V.;
    • Horn, Denise;
    • Kant, Sarina G.;
    • Lacombe, Didier;
    • Leon, Eyby;
    • Maas, Saskia M.;
    • Melis, Daniela;
    • Muto, Valentina;
    • Park, Soo‐Mi;
    • Peeters, Hilde;
    • Peters, Dorien J. M.;
    • Pfundt, Rolph
    Publication type:
    Article
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    Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2719, doi. 10.1002/ajmg.a.37817
    By:
    • Ranganath, Prajnya;
    • Matta, Divya;
    • Bhavani, Gandham SriLakshmi;
    • Wangnekar, Savita;
    • Jain, Jamal Mohammed Nurul;
    • Verma, Ishwar C.;
    • Kabra, Madhulika;
    • Puri, Ratna Dua;
    • Danda, Sumita;
    • Gupta, Neerja;
    • Girisha, Katta M.;
    • Sankar, Vaikom H.;
    • Patil, Siddaramappa J.;
    • Ramadevi, Akella Radha;
    • Bhat, Meenakshi;
    • Gowrishankar, Kalpana;
    • Mandal, Kausik;
    • Aggarwal, Shagun;
    • Tamhankar, Parag Mohan;
    • Tilak, Preetha
    Publication type:
    Article
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    Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2740, doi. 10.1002/ajmg.a.37852
    By:
    • Tenorio, Jair;
    • Romanelli, Valeria;
    • Martin‐Trujillo, Alex;
    • Fernández, García‐Moya;
    • Segovia, Mabel;
    • Perandones, Claudia;
    • Pérez Jurado, Luis A.;
    • Esteller, Manel;
    • Fraga, Mario;
    • Arias, Pedro;
    • Gordo, Gema;
    • Dapía, Irene;
    • Mena, Rocío;
    • Palomares, María;
    • Pérez de Nanclares, Guiomar;
    • Nevado, Julián;
    • García‐Miñaur, Sixto;
    • Santos‐Simarro, Fernando;
    • Martinez‐Glez, Víctor;
    • Vallespín, Elena
    Publication type:
    Article
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