Works matching IS 15524825 AND DT 2015 AND VI 167A AND IP 6

Results: 49
    1

    Methadone use in a male with the FMRI premutation and FXTAS.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1354, doi. 10.1002/ajmg.a.37030
    By:
    • Muzar, Zukhrofi;
    • Lozano, Reymundo;
    • Schneider, Andrea;
    • Adams, Patrick E.;
    • Faradz, Sultana M.H.;
    • Tassone, Flora;
    • Hagerman, Randi J.
    Publication type:
    Article
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    A pure familial 6q15q21 split duplication associated with obesity and transmitted with partial reduction.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1275, doi. 10.1002/ajmg.a.36995
    By:
    • Landais, Emilie;
    • Leroy, Camille;
    • Kleinfinger, Pascale;
    • Brunet, Stéphanie;
    • Koubi, Valérie;
    • Pietrement, Christine;
    • Poli‐Mérol, Marie‐Laurence;
    • Fiquet, Caroline;
    • Souchon, Pierre‐François;
    • Beri, Mylène;
    • Jonveaux, Philippe;
    • Garnotel, Roselyne;
    • Gaillard, Dominique;
    • Doco‐Fenzy, Martine
    Publication type:
    Article
    18

    Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1196, doi. 10.1002/ajmg.a.36997
    By:
    • Monroe, Glen R;
    • Harakalova, Magdalena;
    • van der Crabben, Saskia N;
    • Majoor‐Krakauer, Danielle;
    • Bertoli‐Avella, Aida M;
    • Moll, Frans L;
    • Oranen, Björn I;
    • Dooijes, Dennis;
    • Vink, Aryan;
    • Knoers, Nine V;
    • Maugeri, Alessandra;
    • Pals, Gerard;
    • Nijman, Isaac J;
    • van Haaften, Gijs;
    • Baas, Annette F
    Publication type:
    Article
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    Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: Abstracts from the 2014 Scientific and Educational Symposium.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1179, doi. 10.1002/ajmg.a.37056
    By:
    • Kline, Antonie D.;
    • Calof, Anne L.;
    • Lander, Arthur D.;
    • Gerton, Jennifer L.;
    • Krantz, Ian D.;
    • Dorsett, Dale;
    • Deardorff, Matthew A.;
    • Blagowidow, Natalie;
    • Yokomori, Kyoko;
    • Shirahige, Katsuhiko;
    • Santos, Rosaysela;
    • Woodman, Julie;
    • Megee, Paul C.;
    • O'Connor, Julia T.;
    • Egense, Alena;
    • Noon, Sarah;
    • Belote, Maurice;
    • Goodban, Marjorie T.;
    • Hansen, Blake D.;
    • Timmons, Jenni Glad
    Publication type:
    Article
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    Deletion 1q43-44 in a patient with clinical diagnosis of Warburg-Micro syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1243, doi. 10.1002/ajmg.a.36878
    By:
    • Arroyo‐Carrera, Ignacio;
    • de Zaldívar Tristancho, María Solo;
    • Bermejo‐Sánchez, Eva;
    • Martínez‐Fernández, María Luisa;
    • López‐Lafuente, Amparo;
    • MacDonald, Alexandra;
    • Zúñiga, Ángel;
    • Luis Gómez‐Skarmeta, José;
    • Luisa Martínez‐Frías, María
    Publication type:
    Article
    24

    Adult presentation of X-linked Conradi-Hünermann-Happle syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1309, doi. 10.1002/ajmg.a.36899
    By:
    • Posey, Jennifer E.;
    • Burrage, Lindsay C.;
    • Campeau, Philippe M.;
    • Lu, James T.;
    • Eble, Tanya N.;
    • Kratz, Lisa;
    • Schlesinger, Alan E.;
    • Gibbs, Richard A.;
    • Lee, Brendan H.;
    • Nagamani, Sandesh C.S.
    Publication type:
    Article
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    In this issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. x, doi. 10.1002/ajmg.a.37169
    Publication type:
    Article
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    Deletion of chromosome 8q22.1, a critical region for Nablus mask-like facial syndrome: Four additional cases support a role of genetic modifiers in the manifestation of the phenotype.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1400, doi. 10.1002/ajmg.a.36848
    By:
    • Jamuar, Saumya S.;
    • Duzkale, Hatice;
    • Duzkale, Neslihan;
    • Zhang, Chengsheng;
    • High, Frances A.;
    • Kaban, Leonard;
    • Bhattacharya, Soma;
    • Crandall, Barbara;
    • Kantarci, Sibel;
    • Stoler, Joan M.;
    • Lin, Angela E.
    Publication type:
    Article
    36

    Frontometaphyseal dysplasia and keloid formation without FLNA mutations.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1215, doi. 10.1002/ajmg.a.37044
    By:
    • Basart, Hanneke;
    • van de Kar, Annekatrien;
    • Adès, Lesley;
    • Cho, Tae‐Joon;
    • Carter, Erin;
    • Maas, Saskia M.;
    • Wilson, Louise C.;
    • van der Horst, Chantal M. A. M.;
    • Wade, Emma M.;
    • Robertson, Stephen P.;
    • Hennekam, Raoul C.
    Publication type:
    Article
    37

    MED23-associated intellectual disability in a non-consanguineous family.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1374, doi. 10.1002/ajmg.a.37047
    By:
    • Trehan, Aditi;
    • Brady, Jacqueline M.;
    • Maduro, Valerie;
    • Bone, William P.;
    • Huang, Yan;
    • Golas, Gretchen A.;
    • Kane, Megan S.;
    • Lee, Paul R.;
    • Thurm, Audrey;
    • Gropman, Andrea L.;
    • Paul, Scott M.;
    • Vezina, Gilbert;
    • Markello, Thomas C.;
    • Gahl, William A.;
    • Boerkoel, Cornelius F.;
    • Tifft, Cynthia J.
    Publication type:
    Article
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    Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1252, doi. 10.1002/ajmg.a.36932
    By:
    • El Khattabi, Laïla;
    • Jaillard, Sylvie;
    • Andrieux, Joris;
    • Pasquier, Laurent;
    • Perrin, Laurence;
    • Capri, Yline;
    • Benmansour, Abdelmadjid;
    • Toutain, Annick;
    • Marcorelles, Pascale;
    • Vincent‐Delorme, Catherine;
    • Journel, Hubert;
    • Henry, Catherine;
    • De Barace, Claire;
    • Devisme, Louise;
    • Dubourg, Christèle;
    • Demurger, Florence;
    • Lucas, Josette;
    • Belaud‐Rotureau, Marc‐Antoine;
    • Amiel, Jeanne;
    • Malan, Valérie
    Publication type:
    Article
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    The ACVRL1 c.314-35A>G polymorphism is associated with organ vascular malformations in hereditary hemorrhagic telangiectasia patients with ENG mutations, but not in patients with ACVRL1 mutations.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1262, doi. 10.1002/ajmg.a.36936
    By:
    • Pawlikowska, Ludmila;
    • Nelson, Jeffrey;
    • Guo, Diana E.;
    • McCulloch, Charles E.;
    • Lawton, Michael T.;
    • Young, William L.;
    • Kim, Helen;
    • Faughnan, Marie E.;
    • Chakinala, M;
    • Faughnan, MC;
    • Gossage, JR;
    • Henderson, K;
    • Iyer, V;
    • Kasthuri, R;
    • Kim, H;
    • Krings, T;
    • Lawton, MT;
    • Lin, D;
    • Mager, JJ;
    • McWilliams, J
    Publication type:
    Article
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    Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1323, doi. 10.1002/ajmg.a.36930
    By:
    • Mattos, Eduardo P.;
    • Silva, André Anjos da;
    • Magalhães, José Antônio A;
    • Leite, Júlio César L.;
    • Leistner‐Segal, Sandra;
    • Gus‐Kessler, Rejane;
    • Perez, Juliano Adams;
    • Vedolin, Leonardo M.;
    • Torreblanca‐Zanca, Albertina;
    • Lapunzina, Pablo;
    • Ruiz‐Perez, Victor L.;
    • Sanseverino, Maria Teresa V.
    Publication type:
    Article
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