Works matching IS 10597794 AND DT 2015 AND VI 36 AND IP 11

Results: 17
    1

    DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies.

    Published in:
    Human Mutation, 2015, v. 36, n. 11, p. 1112, doi. 10.1002/humu.22830
    By:
    • Sukalo, Maja;
    • Tilsen, Felix;
    • Kayserili, Hülya;
    • Müller, Dietmar;
    • Tüysüz, Beyhan;
    • Ruddy, Deborah M.;
    • Wakeling, Emma;
    • Ørstavik, Karen Helene;
    • Bramswig, Nuria C.;
    • Snape, Katie M.;
    • Trembath, Richard;
    • Smedt, Maryse;
    • der Aa, Nathalie;
    • Skalej, Martin;
    • Mundlos, Stefan;
    • Wuyts, Wim;
    • Southgate, Laura;
    • Zenker, Martin
    Publication type:
    Article
    2

    Contents.

    Published in:
    2015
    Publication type:
    Other
    3
    4

    High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

    Published in:
    Human Mutation, 2015, v. 36, n. 11, p. 1052, doi. 10.1002/humu.22832
    By:
    • Rojnueangnit, Kitiwan;
    • Xie, Jing;
    • Gomes, Alicia;
    • Sharp, Angela;
    • Callens, Tom;
    • Chen, Yunjia;
    • Liu, Ying;
    • Cochran, Meagan;
    • Abbott, Mary‐Alice;
    • Atkin, Joan;
    • Babovic‐Vuksanovic, Dusica;
    • Barnett, Christopher P.;
    • Crenshaw, Melissa;
    • Bartholomew, Dennis W.;
    • Basel, Lina;
    • Bellus, Gary;
    • Ben‐Shachar, Shay;
    • Bialer, Martin G.;
    • Bick, David;
    • Blumberg, Bruce
    Publication type:
    Article
    5

    POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome.

    Published in:
    Human Mutation, 2015, v. 36, n. 11, p. 1070, doi. 10.1002/humu.22833
    By:
    • Lessel, Davor;
    • Hisama, Fuki M.;
    • Szakszon, Katalin;
    • Saha, Bidisha;
    • Sanjuanelo, Alexander Barrios;
    • Salbert, Bonnie A.;
    • Steele, Pamela D.;
    • Baldwin, Jennifer;
    • Brown, W. Ted;
    • Piussan, Charles;
    • Plauchu, Henri;
    • Szilvássy, Judit;
    • Horkay, Edit;
    • Högel, Josef;
    • Martin, George M.;
    • Herr, Alan J.;
    • Oshima, Junko;
    • Kubisch, Christian
    Publication type:
    Article
    6

    Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome.

    Published in:
    Human Mutation, 2015, v. 36, n. 11, p. 1080, doi. 10.1002/humu.22834
    By:
    • Cordeddu, Viviana;
    • Yin, Jiani C.;
    • Gunnarsson, Cecilia;
    • Virtanen, Carl;
    • Drunat, Séverine;
    • Lepri, Francesca;
    • Luca, Alessandro;
    • Rossi, Cesare;
    • Ciolfi, Andrea;
    • Pugh, Trevor J.;
    • Bruselles, Alessandro;
    • Priest, James R.;
    • Pennacchio, Len A.;
    • Lu, Zhibin;
    • Danesh, Arnavaz;
    • Quevedo, Rene;
    • Hamid, Alaa;
    • Martinelli, Simone;
    • Pantaleoni, Francesca;
    • Gnazzo, Maria
    Publication type:
    Article
    7
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    9
    10
    11

    Expanding the Molecular and Clinical Phenotype of SSR4-CDG.

    Published in:
    Human Mutation, 2015, v. 36, n. 11, p. 1048, doi. 10.1002/humu.22856
    By:
    • Ng, Bobby G.;
    • Raymond, Kimiyo;
    • Kircher, Martin;
    • Buckingham, Kati J.;
    • Wood, Tim;
    • Shendure, Jay;
    • Nickerson, Deborah A.;
    • Bamshad, Michael J.;
    • Wong, Jonathan T.S.;
    • Monteiro, Fabiola Paoli;
    • Graham, Brett H.;
    • Jackson, Sheryl;
    • Sparkes, Rebecca;
    • Scheuerle, Angela E.;
    • Cathey, Sara;
    • Kok, Fernando;
    • Gibson, James B.;
    • Freeze, Hudson H.
    Publication type:
    Article
    12

    Rare Variants in the Epithelial Cadherin Gene Underlying the Genetic Etiology of Nonsyndromic Cleft Lip with or without Cleft Palate.

    Published in:
    Human Mutation, 2015, v. 36, n. 11, p. 1029, doi. 10.1002/humu.22827
    By:
    • Brito, Luciano Abreu;
    • Yamamoto, Guilherme Lopes;
    • Melo, Soraia;
    • Malcher, Carolina;
    • Ferreira, Simone Gomes;
    • Figueiredo, Joana;
    • Alvizi, Lucas;
    • Kobayashi, Gerson Shigeru;
    • Naslavsky, Michel Satya;
    • Alonso, Nivaldo;
    • Felix, Temis Maria;
    • Zatz, Mayana;
    • Seruca, Raquel;
    • Passos‐Bueno, Maria Rita
    Publication type:
    Article
    13

    WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.

    Published in:
    Human Mutation, 2015, v. 36, n. 11, p. 1021, doi. 10.1002/humu.22828
    By:
    • Vodopiutz, Julia;
    • Seidl, Rainer;
    • Prayer, Daniela;
    • Khan, M. Imran;
    • Mayr, Johannes A.;
    • Streubel, Berthold;
    • Steiß, Jens‐Oliver;
    • Hahn, Andreas;
    • Csaicsich, Dagmar;
    • Castro, Christel;
    • Assoum, Mirna;
    • Müller, Thomas;
    • Wieczorek, Dagmar;
    • Mancini, Grazia M. S.;
    • Sadowski, Carolin E.;
    • Lévy, Nicolas;
    • Mégarbané, André;
    • Godbole, Koumudi;
    • Schanze, Denny;
    • Hildebrandt, Friedhelm
    Publication type:
    Article
    14
    15

    Concurrent DNA Copy-Number Alterations and Mutations in Genes Related to Maintenance of Genome Stability in Uninvolved Mammary Glandular Tissue from Breast Cancer Patients.

    Published in:
    Human Mutation, 2015, v. 36, n. 11, p. 1088, doi. 10.1002/humu.22845
    By:
    • Ronowicz, Anna;
    • Janaszak‐Jasiecka, Anna;
    • Skokowski, Jarosław;
    • Madanecki, Piotr;
    • Bartoszewski, Rafal;
    • Bałut, Magdalena;
    • Seroczyńska, Barbara;
    • Kochan, Kinga;
    • Bogdan, Adam;
    • Butkus, Małgorzata;
    • Pęksa, Rafał;
    • Ratajska, Magdalena;
    • Kuźniacka, Alina;
    • Wasąg, Bartosz;
    • Gucwa, Magdalena;
    • Krzyżanowski, Maciej;
    • Jaśkiewicz, Janusz;
    • Jankowski, Zbigniew;
    • Forsberg, Lars;
    • Ochocka, J. Renata
    Publication type:
    Article
    16

    Novel Homozygous Mutation of the Internal Translation Initiation Start Site of VHL is Exclusively Associated with Erythrocytosis: Indications for Distinct Functional Roles of von Hippel-Lindau Tumor Suppressor Isoforms.

    Published in:
    Human Mutation, 2015, v. 36, n. 11, p. 1039, doi. 10.1002/humu.22846
    By:
    • Bartels, Marije;
    • der Zalm, Marieke M.;
    • Oirschot, Brigitte A.;
    • Lee, Frank S.;
    • Giles, Rachel H.;
    • Kruip, Marieke J.H.A.;
    • Gitz‐Francois, Jerney J.J.M.;
    • Solinge, Wouter W.;
    • Bierings, Marc;
    • Wijk, Richard
    Publication type:
    Article
    17