Works matching IS 15524825 AND DT 2015 AND VI 167A AND IP 1

Results: 48
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    Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 111, doi. 10.1002/ajmg.a.36807
    By:
    • Nizon, Mathilde;
    • Andrieux, Joris;
    • Rooryck, Caroline;
    • de Blois, Marie‐Christine;
    • Bourel‐Ponchel, Emilie;
    • Bourgois, Béatrice;
    • Boute, Odile;
    • David, Albert;
    • Delobel, Bruno;
    • Duban‐Bedu, Bénédicte;
    • Giuliano, Fabienne;
    • Goldenberg, Alice;
    • Grotto, Sarah;
    • Héron, Delphine;
    • Karmous‐Benailly, Houda;
    • Keren, Boris;
    • Lacombe, Didier;
    • Lapierre, Jean‐Michel;
    • Le Caignec, Cédric;
    • Le Galloudec, Eric
    Publication type:
    Article
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    Ring 18 molecular assessment and clinical consequences.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 54, doi. 10.1002/ajmg.a.36822
    By:
    • Carter, Erika;
    • Heard, Patricia;
    • Hasi, Minire;
    • Soileau, Bridgette;
    • Sebold, Courtney;
    • Hale, Daniel E.;
    • Cody, Jannine D.
    Publication type:
    Article
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    Natural history of fetal trisomy 13 after prenatal diagnosis.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 147, doi. 10.1002/ajmg.a.36824
    By:
    • Barry, Sinead C.;
    • Walsh, Colin A.;
    • Burke, Annette L.;
    • McParland, Peter;
    • McAuliffe, Fionnuala M.;
    • Morrison, John J.
    Publication type:
    Article
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    A novel mutation in FGFR2.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 123, doi. 10.1002/ajmg.a.36827
    By:
    • Goos, Jacqueline A. C.;
    • van den Ouweland, Ans M. W.;
    • Swagemakers, Sigrid M. A.;
    • Verkerk, Annemieke J. M. H.;
    • Hoogeboom, A. Jeannette M.;
    • van Veelen, Marie‐Lise C.;
    • Mathijssen, Irene M. J.;
    • van der Spek, Peter J.
    Publication type:
    Article
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    Myocardial fat overgrowth in Proteus syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 103, doi. 10.1002/ajmg.a.36773
    By:
    • Hannoush, H.;
    • Sachdev, V.;
    • Brofferio, A.;
    • Arai, A.E.;
    • LaRocca, G.;
    • Sapp, J.;
    • Sidenko, S.;
    • Brenneman, C.;
    • Biesecker, L.G.;
    • Keppler‐Noreuil, K.M.
    Publication type:
    Article
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    Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 250, doi. 10.1002/ajmg.a.36840
    By:
    • Goumy, Carole;
    • Laffargue, Fanny;
    • Eymard‐Pierre, Eléonore;
    • Kemeny, Stéphen;
    • Gay‐Bellile, Mathilde;
    • Gouas, Laetiti;
    • Gallot, Denis;
    • Francannet, Christine;
    • Tchirkov, Andrei;
    • Pebrel‐Richard, Céline;
    • Vago, Philippe
    Publication type:
    Article
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    Recent developments in neurofibromatoses and RASopathies: Management, diagnosis and current and future therapeutic avenues.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 1, doi. 10.1002/ajmg.a.36793
    By:
    • Rauen, Katherine A.;
    • Huson, Susan M.;
    • Burkitt‐Wright, Emma;
    • Evans, D. Gareth;
    • Farschtschi, Said;
    • Ferner, Rosalie E.;
    • Gutmann, David H.;
    • Hanemann, C. Oliver;
    • Kerr, Bronwyn;
    • Legius, Eric;
    • Parada, Luis F.;
    • Patton, Michael;
    • Peltonen, Juha;
    • Ratner, Nancy;
    • Riccardi, Vincent M.;
    • van der Vaart, Thijs;
    • Vikkula, Miikka;
    • Viskochil, David H.;
    • Zenker, Martin;
    • Upadhyaya, Meena
    Publication type:
    Article
    39

    Echogenic.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 254, doi. 10.1002/ajmg.a.36796
    By:
    • van Staalduinen, Brent
    Publication type:
    Article
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    Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 95, doi. 10.1002/ajmg.a.36799
    By:
    • Giampietro, Philip F.;
    • Armstrong, Linlea;
    • Stoddard, Alex;
    • Blank, Robert D.;
    • Livingston, Janet;
    • Raggio, Cathy L.;
    • Rasmussen, Kristen;
    • Pickart, Michael;
    • Lorier, Rachel;
    • Turner, Amy;
    • Sund, Sarah;
    • Sobrera, Nara;
    • Neptune, Enid;
    • Sweetser, David;
    • Santiago‐Cornier, Alberto;
    • Broeckel, Ulrich
    Publication type:
    Article
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    Mosaicism for trisomy 21: A review.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 26, doi. 10.1002/ajmg.a.36861
    By:
    • Papavassiliou, Paulie;
    • Charalsawadi, Chariyawan;
    • Rafferty, Kelly;
    • Jackson‐Cook, Colleen
    Publication type:
    Article
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    Prader-Willi syndrome can be diagnosed prenatally.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 80, doi. 10.1002/ajmg.a.36812
    By:
    • Gross, Noa;
    • Rabinowitz, Ron;
    • Gross‐Tsur, Varda;
    • Hirsch, Harry J.;
    • Eldar‐Geva, Talia
    Publication type:
    Article
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