Works matching IS 10597794 AND DT 2013 AND VI 34 AND IP 8

Results: 19
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    Mutations in Extracellular Matrix Genes NID1 and LAMC1 Cause Autosomal Dominant Dandy- Walker Malformation and Occipital Cephaloceles.

    Published in:
    Human Mutation, 2013, v. 34, n. 8, p. 1075, doi. 10.1002/humu.22351
    By:
    • Darbro, Benjamin W.;
    • Mahajan, Vinit B.;
    • Gakhar, Lokesh;
    • Skeie, Jessica M.;
    • Campbell, Elizabeth;
    • Wu, Shu;
    • Bing, Xinyu;
    • Millen, Kathleen J.;
    • Dobyns, William B.;
    • Kessler, John A.;
    • Jalali, Ali;
    • Cremer, James;
    • Segre, Alberto;
    • Manak, J. Robert;
    • Aldinger, Kimerbly A.;
    • Suzuki, Satoshi;
    • Natsume, Nagato;
    • Ono, Maya;
    • Hai, Huynh Dai;
    • Viet, Le Thi
    Publication type:
    Article
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    Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression.

    Published in:
    Human Mutation, 2013, v. 34, n. 8, p. 1160, doi. 10.1002/humu.22348
    By:
    • Giorgio, Elisa;
    • Rolyan, Harshvardhan;
    • Kropp, Laura;
    • Chakka, Anish Baswanth;
    • Yatsenko, Svetlana;
    • Gregorio, Eleonora Di;
    • Lacerenza, Daniela;
    • Vaula, Giovanna;
    • Talarico, Flavia;
    • Mandich, Paola;
    • Toro, Camilo;
    • Pierre, Eleonore Eymard;
    • Labauge, Pierre;
    • Capellari, Sabina;
    • Cortelli, Pietro;
    • Vairo, Filippo Pinto;
    • Miguel, Diego;
    • Stubbolo, Danielle;
    • Marques, Lourenco Charles;
    • Gahl, William
    Publication type:
    Article
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    Synonymous Mutations in RNASEH2A Create Cryptic Splice Sites Impairing RNase H2 Enzyme Function in Aicardi- Goutières Syndrome.

    Published in:
    Human Mutation, 2013, v. 34, n. 8, p. 1066, doi. 10.1002/humu.22336
    By:
    • Rice, Gillian I.;
    • Reijns, Martin A.M.;
    • Coffin, Stephanie R.;
    • Forte, Gabriella M.A.;
    • Anderson, Beverley H.;
    • Szynkiewicz, Marcin;
    • Gornall, Hannah;
    • Gent, David;
    • Leitch, Andrea;
    • Botella, Maria P.;
    • Fazzi, Elisa;
    • Gener, Blanca;
    • Lagae, Lieven;
    • Olivieri, Ivana;
    • Orcesi, Simona;
    • Swoboda, Kathryn J.;
    • Perrino, Fred W.;
    • Jackson, Andrew P.;
    • Crow, Yanick J.
    Publication type:
    Article
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    Next Generation Genetic Testing for Retinitis Pigmentosa.

    Published in:
    Human Mutation, 2013, v. 34, n. 8, p. 1181, doi. 10.1002/humu.22357
    By:
    • Neveling, Kornelia;
    • Collin, Rob W.J.;
    • Gilissen, Christian;
    • Huet, Ramon A.C.;
    • Visser, Linda;
    • Kwint, Michael P.;
    • Gijsen, Sabine J.;
    • Zonneveld, Marijke N.;
    • Wieskamp, Nienke;
    • Ligt, Joep;
    • Siemiatkowska, Anna M.;
    • Hoefsloot, Lies H.;
    • Buckley, Michael F.;
    • Kellner, Ulrich;
    • Branham, Kari E.;
    • den Hollander, Anneke I.;
    • Hoischen, Alexander;
    • Hoyng, Carel;
    • Klevering, B. Jeroen;
    • Born, L. Ingeborgh
    Publication type:
    Article
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    ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation.

    Published in:
    Human Mutation, 2013, v. 34, n. 8, p. 1111, doi. 10.1002/humu.22342
    By:
    • Sarkozy, Anna;
    • Hicks, Debbie;
    • Hudson, Judith;
    • Laval, Steve H.;
    • Barresi, Rita;
    • Hilton‐Jones, David;
    • Deschauer, Marcus;
    • Harris, Elizabeth;
    • Rufibach, Laura;
    • Hwang, Esther;
    • Bashir, Rumaisa;
    • Walter, Maggie C.;
    • Krause, Sabine;
    • Bergh, Peter;
    • Illa, Isabel;
    • Pénisson‐Besnier, Isabelle;
    • Waele, Liesbeth;
    • Turnbull, Doug;
    • Guglieri, Michela;
    • Schrank, Bertold
    Publication type:
    Article
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    Pheno Tips: Patient Phenotyping Software for Clinical and Research Use.

    Published in:
    Human Mutation, 2013, v. 34, n. 8, p. 1057, doi. 10.1002/humu.22347
    By:
    • Girdea, Marta;
    • Dumitriu, Sergiu;
    • Fiume, Marc;
    • Bowdin, Sarah;
    • Boycott, Kym M.;
    • Chénier, Sébastien;
    • Chitayat, David;
    • Faghfoury, Hanna;
    • Meyn, M. Stephen;
    • Ray, Peter N.;
    • So, Joyce;
    • Stavropoulos, Dimitri J.;
    • Brudno, Michael
    Publication type:
    Article
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    Simultaneous Hyper- and Hypomethylation at Imprinted Loci in a Subset of Patients with GNAS Epimutations Underlies a Complex and Different Mechanism of Multilocus Methylation Defect in Pseudohypoparathyroidism Type 1b.

    Published in:
    Human Mutation, 2013, v. 34, n. 8, p. 1172, doi. 10.1002/humu.22352
    By:
    • Maupetit‐Méhouas, Stéphanie;
    • Azzi, Salah;
    • Steunou, Virginie;
    • Sakakini, Nathalie;
    • Silve, Caroline;
    • Reynes, Christelle;
    • Perez de Nanclares, Guiomar;
    • Keren, Boris;
    • Chantot, Sandra;
    • Barlier, Anne;
    • Linglart, Agnès;
    • Netchine, Irène
    Publication type:
    Article