Works matching IS 15524825 AND DT 2011 AND VI 155A AND IP 10

Results: 50
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    Two sisters resembling Gorlin-Chaudhry-Moss syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2552, doi. 10.1002/ajmg.a.34204
    By:
    • Aravena, Teresa;
    • Passalacqua, Cristóbal;
    • Pizarro, Oscar;
    • Aracena, Mariana
    Publication type:
    Article
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    Axial spondylometaphyseal dysplasia: Additional reports.

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2521, doi. 10.1002/ajmg.a.34192
    By:
    • Suzuki, Shigeru;
    • Kim, Ok-Hwa;
    • Makita, Yoshio;
    • Saito, Tetsuya;
    • Lim, Gye-Yeon;
    • Cho, Tae-Joon;
    • Al-Swaid, Abdulrahman;
    • Alrasheed, Shatha;
    • Sadoon, Eiad;
    • Miyazaki, Osamu;
    • Nishina, Sachiko;
    • Superti-Furga, Andrea;
    • Unger, Sheila;
    • Fujieda, Kenji;
    • Ikegawa, Shiro;
    • Nishimura, Gen
    Publication type:
    Article
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    Book review.

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2605, doi. 10.1002/ajmg.a.34174
    By:
    • Duncan, Alessandra M.V.
    Publication type:
    Article
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    Complex genomic rearrangement of chromosome 16p13.3 detected by array comparative genomic hybridization in a patient with multiple congenital anomalies, dysmorphic craniofacial features, and developmental delay.

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2589, doi. 10.1002/ajmg.a.34185
    By:
    • Gu, Jun;
    • Sreenath Nagamani, Sandesh C.;
    • Hopwood, Vicki L.;
    • Sanchez, Beatriz;
    • Saeidinejad, Yasaman;
    • Ou, Zhishuo;
    • Peacock, Sandra;
    • Grange, Dorothy K.;
    • Stankiewicz, Pawel;
    • Cheung, Sau Wai
    Publication type:
    Article
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    Deletion 2p15-16.1 syndrome: Case report and review.

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2473, doi. 10.1002/ajmg.a.33875
    By:
    • Prontera, Paolo;
    • Bernardini, Laura;
    • Stangoni, Gabriela;
    • Capalbo, Anna;
    • Rogaia, Daniela;
    • Romani, Rita;
    • Ardisia, Carmela;
    • Dallapiccola, Bruno;
    • Donti, Emilio
    Publication type:
    Article
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    The male phenotype in osteopathia striata congenita with cranial sclerosis.

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2397, doi. 10.1002/ajmg.a.34178
    By:
    • Holman, Sarah K.;
    • Daniel, Phil;
    • Jenkins, Zandra A.;
    • Herron, Rachel L.;
    • Morgan, Tim;
    • Savarirayan, Ravi;
    • Chow, C.W.;
    • Bohring, Axel;
    • Mosel, Annette;
    • Lacombe, Didier;
    • Steiner, Bernhard;
    • Schmitt-Mechelke, Thomas;
    • Schroter, Barbara;
    • Raas-Rothschild, Annick;
    • Miñaur, Sixto Garcia;
    • Porteous, Mary;
    • Parker, Michael;
    • Quarrell, Oliver;
    • Tapon, Dagmar;
    • Cormier-Daire, Valérie
    Publication type:
    Article
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    FGFR3 related skeletal dysplasias diagnosed prenatally by ultrasonography and molecular analysis: Presentation of 17 cases.

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2426, doi. 10.1002/ajmg.a.34189
    By:
    • Hatzaki, Angeliki;
    • Sifakis, Stavros;
    • Apostolopoulou, Despina;
    • Bouzarelou, Dimitra;
    • Konstantinidou, Anastasia;
    • Kappou, Dimitra;
    • Sideris, Apostolos;
    • Tzortzis, Emmanouil;
    • Athanassiadis, Apostolos;
    • Florentin, Lina;
    • Theodoropoulos, Perikles;
    • Makatsoris, Constantinos;
    • Karadimas, Charalambos;
    • Velissariou, Voula
    Publication type:
    Article
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    Did the GJB2 35delG mutation originate in Iran?

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2453, doi. 10.1002/ajmg.a.34225
    By:
    • Norouzi, Vahideh;
    • Azizi, Hiva;
    • Fattahi, Zohreh;
    • Esteghamat, Fatemehsadat;
    • Bazazzadegan, Niloofar;
    • Nishimura, Carla;
    • Nikzat, Nooshin;
    • Jalalvand, Khadijeh;
    • Kahrizi, Kimia;
    • Smith, Richard. J. H.;
    • Najmabadi, Hossein
    Publication type:
    Article
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    Visual processing in Noonan syndrome: Dorsal and ventral stream sensitivity.

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2459, doi. 10.1002/ajmg.a.34229
    By:
    • Alfieri, Paolo;
    • Cesarini, Laura;
    • De Rose, Paola;
    • Ricci, Daniela;
    • Selicorni, Angelo;
    • Menghini, Deny;
    • Guzzetta, Andrea;
    • Baranello, Giovanni;
    • Tinelli, Francesca;
    • Mallardi, Maria;
    • Zampino, Giuseppe;
    • Vicari, Stefano;
    • Atkinson, Janette;
    • Mercuri, Eugenio
    Publication type:
    Article
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    Pitfalls in the use of DGV for CNV interpretation.

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2593, doi. 10.1002/ajmg.a.34195
    By:
    • Duclos, Aude;
    • Charbonnier, Françoise;
    • Chambon, Pascal;
    • Latouche, Jean-Baptiste;
    • Blavier, André;
    • Redon, Richard;
    • Frébourg, Thierry;
    • Flaman, Jean-Michel
    Publication type:
    Article
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    Fanconi-Bickel syndrome and fertility.

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2607, doi. 10.1002/ajmg.a.34202
    By:
    • von Schnakenburg, Christian;
    • Santer, René
    Publication type:
    Article
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    Self-perceptions from people with Down syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2360, doi. 10.1002/ajmg.a.34235
    By:
    • Skotko, Brian G.;
    • Levine, Susan P.;
    • Goldstein, Richard
    Publication type:
    Article
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    Mosaic trisomy 17: Variable clinical and cytogenetic presentation.

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2489, doi. 10.1002/ajmg.a.34172
    By:
    • Daber, Robert;
    • Chapman, Kimberly A.;
    • Ruchelli, Eduardo;
    • Kasperski, Stefanie;
    • Mulchandani, Surabhi;
    • Thiel, Brian D.;
    • Hakonarson, Hakon;
    • Zackai, Elaine H.;
    • Conlin, Laura K.;
    • Spinner, Nancy B.
    Publication type:
    Article
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    Somatic mosaicism contributes to phenotypic variation in Timothy syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2578, doi. 10.1002/ajmg.a.34223
    By:
    • Etheridge, Susan P.;
    • Bowles, Neil E.;
    • Arrington, Cammon B.;
    • Pilcher, Thomas;
    • Rope, Alan;
    • Wilde, Arthur A.M.;
    • Alders, Marielle;
    • Saarel, Elizabeth V.;
    • Tavernier, Rene;
    • Timothy, Katherine W.;
    • Tristani-Firouzi, Martin
    Publication type:
    Article
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    Ramos-Arroyo syndrome: Confirmation of an entity.

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2556, doi. 10.1002/ajmg.a.34209
    By:
    • Tooley, Madeleine J.;
    • Cosgrove, Mike;
    • Laws, David E.;
    • Pilz, Daniela T.
    Publication type:
    Article
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    De novo 5q35.5 duplication with clinical presentation of Sotos syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2501, doi. 10.1002/ajmg.a.34179
    By:
    • Kasnauskiene, Jurate;
    • Cimbalistiene, Loreta;
    • Ciuladaite, Zivile;
    • Preiksaitiene, Egle;
    • Kučinskienė, Zita Aušrelė;
    • Hettinger, Joe A.;
    • Sismani, Carolina;
    • Patsalis, Philippos C.;
    • Kučinskas, Vaidutis
    Publication type:
    Article
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