Works matching IS 15524825 AND DT 2012 AND VI 158A AND IP 9

Results: 49
    1

    SMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2204, doi. 10.1002/ajmg.a.35532
    By:
    • Baradaran-Heravi, Alireza;
    • Raams, Anja;
    • Lubieniecka, Joanna;
    • Cho, Kyoung Sang;
    • DeHaai, Kristi A.;
    • Basiratnia, Mitra;
    • Mari, Pierre-Olivier;
    • Xue, Yutong;
    • Rauth, Michael;
    • Olney, Ann Haskins;
    • Shago, Mary;
    • Choi, Kunho;
    • Weksberg, Rosanna A.;
    • Nowaczyk, Malgorzata J.M.;
    • Wang, Weidong;
    • Jaspers, Nicolaas G.J.;
    • Boerkoel, Cornelius F.
    Publication type:
    Article
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    A case of de Barsy syndrome with a severe eye phenotype.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2364, doi. 10.1002/ajmg.a.35507
    By:
    • Al-Owain, Mohammed;
    • Alanazi, Shamsa;
    • Khalifa, Ola;
    • Al-Hemidan, Amal;
    • Al-Ebdi, Loai;
    • Al-Saud, Bandar;
    • Alkuraya, Fowzan S.
    Publication type:
    Article
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    Genotype-phenotype analysis of 4q deletion syndrome: Proposal of a critical region.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2139, doi. 10.1002/ajmg.a.35502
    By:
    • Strehle, Eugen-Matthias;
    • Yu, Linbo;
    • Rosenfeld, Jill A.;
    • Donkervoort, Sandra;
    • Zhou, Yulin;
    • Chen, Tian-Jian;
    • Martinez, Jose E.;
    • Fan, Yao-Shan;
    • Barbouth, Deborah;
    • Zhu, Hongbo;
    • Vaglio, Alicia;
    • Smith, Rosemarie;
    • Stevens, Cathy A.;
    • Curry, Cynthia J.;
    • Ladda, Roger L.;
    • Fan, Zheng (Jane);
    • Fox, Joyce E.;
    • Martin, Judith A.;
    • Abdel-Hamid, Hoda Z.;
    • McCracken, Elizabeth A.
    Publication type:
    Article
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    The Learning Disabilities Network (LeaDNet): Using neurofibromatosis type 1 (NF1) as a paradigm for translational research.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2225, doi. 10.1002/ajmg.a.35535
    By:
    • Acosta, Maria T.;
    • Bearden, Carrie E.;
    • Castellanos, Xavier F.;
    • Cutting, Laurie;
    • Elgersma, Ype;
    • Gioia, Gerard;
    • Gutmann, David H.;
    • Lee, Yong-Seok;
    • Legius, Eric;
    • Muenke, Maximillian;
    • North, Kathryn;
    • Parada, Luis F.;
    • Ratner, Nancy;
    • Hunter-Schaedle, Kim;
    • Silva, Alcino J.
    Publication type:
    Article
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    Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2277, doi. 10.1002/ajmg.a.35494
    By:
    • Rambaud, Jérôme;
    • Marey, Isabelle;
    • Dupont, Céline;
    • Perrin-Sabourin, Laurence;
    • Capri, Yline;
    • Tabet, Anne Claude;
    • Benzacken, Brigitte;
    • Verloes, Alain;
    • Aboura, Azzedine;
    • Gérard, Marion
    Publication type:
    Article
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    Pseudoaminopterin syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2233, doi. 10.1002/ajmg.a.35212
    By:
    • Kraoua, Lilia;
    • Capri, Yline;
    • Perrin, Laurence;
    • Benmansour, Abdelmajjid;
    • Verloes, Alain
    Publication type:
    Article
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    Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2152, doi. 10.1002/ajmg.a.35574
    By:
    • DeScipio, Cheryl;
    • Conlin, Laura;
    • Rosenfeld, Jill;
    • Tepperberg, James;
    • Pasion, Romela;
    • Patel, Ankita;
    • McDonald, Marie T.;
    • Aradhya, Swaroop;
    • Ho, Darlene;
    • Goldstein, Jennifer;
    • McGuire, Marianne;
    • Mulchandani, Surabhi;
    • Medne, Livija;
    • Rupps, Rosemarie;
    • Serrano, Alvaro H.;
    • Thorland, Erik C.;
    • Tsai, Anne C.-H.;
    • Hilhorst-Hofstee, Yvonne;
    • Ruivenkamp, Claudia A.L.;
    • Van Esch, Hilde
    Publication type:
    Article
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    Phenotype in novel Xp duplication.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2342, doi. 10.1002/ajmg.a.35538
    By:
    • Salaria, Manju;
    • Burgess, Trent;
    • Setyapranata, Stella;
    • Winship, Ingrid
    Publication type:
    Article
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    Nablus mask-like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2091, doi. 10.1002/ajmg.a.35446
    By:
    • Allanson, Judith;
    • Smith, Amanda;
    • Hare, Heather;
    • Albrecht, Beate;
    • Bijlsma, Emilia;
    • Dallapiccola, Bruno;
    • Donti, Emilio;
    • Fitzpatrick, David;
    • Isidor, Bertrand;
    • Lachlan, Katherine;
    • Le Caignec, Cedric;
    • Prontera, Paolo;
    • Raas-Rothschild, Annick;
    • Rogaia, Daniela;
    • van Bon, Bregje;
    • Aradhya, Swaroop;
    • Crocker, Susan F.;
    • Jarinova, Olga;
    • McGowan-Jordan, Jean;
    • Boycott, Kym
    Publication type:
    Article
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    Assessment of bone mineral status in children with Marfan syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2221, doi. 10.1002/ajmg.a.35540
    By:
    • Grover, Monica;
    • Brunetti-Pierri, Nicola;
    • Belmont, John;
    • Phan, Kelly;
    • Tran, Alyssa;
    • Shypailo, Roman J.;
    • Ellis, Kenneth J.;
    • Lee, Brendan H.
    Publication type:
    Article
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    IMPAD1 mutations in two Catel-Manzke like patients.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2183, doi. 10.1002/ajmg.a.35504
    By:
    • Nizon, Mathilde;
    • Alanay, Yasemin;
    • Tuysuz, Beyhan;
    • Kiper, Pelin Ozlem Simsek;
    • Geneviève, David;
    • Sillence, David;
    • Huber, Celine;
    • Munnich, Arnold;
    • Cormier-Daire, Prof. Valérie
    Publication type:
    Article
    44

    IRF6 is a risk factor for nonsyndromic cleft lip in the Brazilian population.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2170, doi. 10.1002/ajmg.a.35526
    By:
    • Brito, Luciano A.;
    • Bassi, Camila F.S.;
    • Masotti, Cibele;
    • Malcher, Carolina;
    • Rocha, Kátia M.;
    • Schlesinger, David;
    • Bueno, Daniela F.;
    • Cruz, Lucas A.;
    • Barbara, Ligia K.;
    • Bertola, Débora R.;
    • Meyer, Diogo;
    • Franco, Diogo;
    • Alonso, Nivaldo;
    • Passos-Bueno, Maria Rita
    Publication type:
    Article
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    Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: The diagnostic value of rib malformations and index nail and finger hypoplasia.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2245, doi. 10.1002/ajmg.a.35474
    By:
    • Garavelli, Livia;
    • Gargano, Giancarlo;
    • Simonte, Graziella;
    • Rosato, Simonetta;
    • Wischmeijer, Anita;
    • Melli, Nives;
    • Braibanti, Silvia;
    • Gelmini, Chiara;
    • Forzano, Francesca;
    • Pietrobono, Roberta;
    • Pomponi, Maria Grazia;
    • Andreucci, Elena;
    • Toutain, Annick;
    • Superti-Furga, Andrea;
    • Neri, Giovanni
    Publication type:
    Article
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