Works matching IS 15524825 AND DT 2012 AND VI 158A AND IP 11

Results: 61
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    Additional case of an uncommon 22q11.2 reciprocal rearrangement in a phenotypically normal mother of children with 22q11.2 deletion and 22q11.2 duplication syndromes.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2963, doi. 10.1002/ajmg.a.35595
    By:
    • Fernández, Luis;
    • Nevado, Julián;
    • De Torres, María L.;
    • Mansilla, Elena;
    • Vallespín, Elena;
    • García-Miñaúr, Sixto;
    • Palomo, Rebeca;
    • Deirós, Lucía;
    • Cabrera, Marta;
    • Galo, Elia Dina;
    • Lapunzina, Pablo;
    • Delicado, Alicia
    Publication type:
    Article
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    Growth charts for 22q11 deletion syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2672, doi. 10.1002/ajmg.a.35485
    By:
    • Tarquinio, Daniel C.;
    • Jones, Marilyn C.;
    • Jones, Kenneth Lyons;
    • Bird, Lynne M.
    Publication type:
    Article
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    Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke-Davidoff-Masson type in two patients.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2870, doi. 10.1002/ajmg.a.35221
    By:
    • Ruggieri, Martino;
    • Milone, Pietro;
    • Pavone, Piero;
    • Falsaperla, Raffaele;
    • Polizzi, Agata;
    • Caltabiano, Rosario;
    • Fichera, Marco;
    • Gabriele, Anna Lia;
    • Distefano, Angela;
    • De Pasquale, Rocco;
    • Salpietro, Vincenzo;
    • Micali, Giuseppe;
    • Pavone, Lorenzo
    Publication type:
    Article
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    MGAT2-CDG (CDG-IIa) and dysmorphism.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2976, doi. 10.1002/ajmg.a.35375
    By:
    • Alkuraya, Fowzan S.
    Publication type:
    Article
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    Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2820, doi. 10.1002/ajmg.a.35620
    By:
    • Dalal, Ashwin;
    • Bhavani G, Sri Lakshmi;
    • Togarrati, Padma Priya;
    • Bierhals, Tatjana;
    • Nandineni, Madhusudan R.;
    • Danda, Sumita;
    • Danda, Debashish;
    • Shah, Hitesh;
    • Vijayan, Sandeep;
    • Gowrishankar, Kalpana;
    • Phadke, Shubha R;
    • Bidchol, Abdul Mueed;
    • Rao, Anand Prahalad;
    • Nampoothiri, Sheela;
    • Kutsche, Kerstin;
    • Girisha, K.M.
    Publication type:
    Article
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    Growth curves of Egyptian patients with Turner syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2687, doi. 10.1002/ajmg.a.35518
    By:
    • El-Bassyouni, Hala T.;
    • Afifi, Hanan H.;
    • Aglan, Mona S.;
    • Mahmoud, Wael M.;
    • Zaki, Moushira E.
    Publication type:
    Article
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    Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2733, doi. 10.1002/ajmg.a.35681
    By:
    • de Munnik, Sonja A.;
    • Otten, Barto J.;
    • Schoots, Jeroen;
    • Bicknell, Louise S.;
    • Aftimos, Salim;
    • Al-Aama, Jumana Y.;
    • van Bever, Yolande;
    • Bober, Michael B.;
    • Borm, George F.;
    • Clayton-Smith, Jill;
    • Deal, Cheri L.;
    • Edrees, Alaa Y.;
    • Feingold, Murray;
    • Fryer, Alan;
    • van Hagen, Johanna M.;
    • Hennekam, Raoul C.;
    • Jansweijer, Maaike C.E.;
    • Johnson, Diana;
    • Kant, Sarina G.;
    • Opitz, John M.
    Publication type:
    Article
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    Grange syndrome: An identifiable cause of stroke in young adults.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2894, doi. 10.1002/ajmg.a.35593
    By:
    • Volonghi, Irene;
    • Frigerio, Michele;
    • Mardighian, Dikran;
    • Gasparotti, Roberto;
    • Del Zotto, Elisabetta;
    • Giossi, Alessia;
    • Costa, Paolo;
    • Poli, Loris;
    • Jeannin, Guido;
    • Gregorini, Gina A.;
    • Padovani, Alessandro;
    • Pezzini, Alessandro
    Publication type:
    Article
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    An inherited LMNA gene mutation in atypical Progeria syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2881, doi. 10.1002/ajmg.a.35557
    By:
    • Doubaj, Yassamine;
    • De Sandre-Giovannoli, Annachiara;
    • Vera, Esteves-Vieira;
    • Navarro, Claire Laure;
    • Elalaoui, Siham Chafai;
    • Tajir, Mariam;
    • Lévy, Nicolas;
    • Sefiani, Abdelaziz
    Publication type:
    Article
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    Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: Gene-phenotype correlations.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2829, doi. 10.1002/ajmg.a.35622
    By:
    • Nishida, Takeo;
    • Faughnan, Marie E.;
    • Krings, Timo;
    • Chakinala, Murali;
    • Gossage, James R.;
    • Young, William L.;
    • Kim, Helen;
    • Pourmohamad, Tony;
    • Henderson, Katharine J.;
    • Schrum, Stacy D.;
    • James, Melissa;
    • Quinnine, Nancy;
    • Bharatha, Aditya;
    • terBrugge, Karel G.;
    • White, Robert I.
    Publication type:
    Article
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    Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2781, doi. 10.1002/ajmg.a.35512
    By:
    • Herman, Sean B.;
    • Guo, Tingwei;
    • McGinn, Donna M. McDonald;
    • Blonska, Anna;
    • Shanske, Alan L.;
    • Bassett, Anne S.;
    • Chow, Eva W.C.;
    • Bowser, Mark;
    • Sheridan, Molly;
    • Beemer, Frits;
    • Devriendt, Koen;
    • Swillen, Ann;
    • Breckpot, Jeroen;
    • Digilio, M. Cristina;
    • Marino, Bruno;
    • Dallapiccola, Bruno;
    • Carpenter, Courtney;
    • Zheng, Xin;
    • Johnson, Jacob;
    • Chung, Jonathan
    Publication type:
    Article
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    Normative growth charts for individuals with Costello syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2692, doi. 10.1002/ajmg.a.35534
    By:
    • Sammon, Mary R.;
    • Doyle, Dan;
    • Hopkins, Elizabeth;
    • Sol-Church, Katia;
    • Stabley, Deborah L.;
    • McGready, John;
    • Schulze, Kerry;
    • Alade, Yewande;
    • Hoover-Fong, Julie;
    • Gripp, Karen W.
    Publication type:
    Article