Works matching IS 10597794 AND DT 2010 AND VI 31 AND IP 1

Results: 26
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    A specific mutation in the distant sonic hedgehog ( SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb.

    Published in:
    Human Mutation, 2010, v. 31, n. 1, p. 81, doi. 10.1002/humu.21142
    By:
    • Wieczorek, Dagmar;
    • Pawlik, Barbara;
    • Li, Yun;
    • Akarsu, Nurten A.;
    • Caliebe, Almuth;
    • May, Klaus J.W.;
    • Schweiger, Bernd;
    • Vargas, Fernando R.;
    • Balci, Sevim;
    • Gillessen-Kaesbach, Gabriele;
    • Wollnik, Bernd
    Publication type:
    Article
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    Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations.

    Published in:
    Human Mutation, 2010, v. 31, n. 1, p. E1071, doi. 10.1002/humu.21167
    By:
    • Pangrazio, Alessandra;
    • Pusch, Michael;
    • Caldana, Elena;
    • Frattini, Annalisa;
    • Lanino, Edoardo;
    • Tamhankar, Parag M;
    • Phadke, Shubha;
    • Lopez, Antonio Gonzalez Meneses;
    • Orchard, Paul;
    • Mihci, Ercan;
    • Abinun, Mario;
    • Wright, Michael;
    • Vettenranta, Kim;
    • Bariæ, Ivo;
    • Melis, Daniela;
    • Tezcan, Ilhan;
    • Baumann, Clarisse;
    • Locatelli, Franco;
    • Zecca, Marco;
    • Horwitz, Edwin
    Publication type:
    Article
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    Evaluation of SNPs in miR-146a, miR196a2 and miR-499 as low-penetrance alleles in German and Italian familial breast cancer cases.

    Published in:
    Human Mutation, 2010, v. 31, n. 1, p. E1052, doi. 10.1002/humu.21141
    By:
    • Catucci, Irene;
    • Yang, Rongxi;
    • Verderio, Paolo;
    • Pizzamiglio, Sara;
    • Heesen, Ludwig;
    • Hemminki, Kari;
    • Sutter, Christian;
    • Wappenschmidt, Barbara;
    • Dick, Michelle;
    • Arnold, Norbert;
    • Bugert, Peter;
    • Niederacher, Dieter;
    • Meindl, Alfons;
    • Schmutzler, Rita K.;
    • Bartram, Claus C.;
    • Ficarazzi, Filomena;
    • Tizzoni, Laura;
    • Zaffaroni, Daniela;
    • Manoukian, Siranoush;
    • Barile, Monica
    Publication type:
    Article
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    Identification of a DMBT1 polymorphism associated with increased breast cancer risk and decreased promoter activity.

    Published in:
    Human Mutation, 2010, v. 31, n. 1, p. 60, doi. 10.1002/humu.21134
    By:
    • Tchatchou, Sandrine;
    • Riedel, Angela;
    • Lyer, Stefan;
    • Schmutzhard, Julia;
    • Strobel-Freidekind, Olga;
    • Gronert-Sum, Sabine;
    • Mietag, Carola;
    • D'Amato, Mauro;
    • Schlehe, Bettina;
    • Hemminki, Kari;
    • Sutter, Christian;
    • Ditsch, Nina;
    • Blackburn, Anneke;
    • Hill, Linda Zhai;
    • Jerry, D. Joseph;
    • Bugert, Peter;
    • Weber, Bernhard H. F.;
    • Niederacher, Dieter;
    • Arnold, Norbert;
    • Varon-Mateeva, Raymonda
    Publication type:
    Article
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    OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels.

    Published in:
    Human Mutation, 2010, v. 31, n. 1, p. 20, doi. 10.1002/humu.21150
    By:
    • Huber, Celine;
    • Fradin, Mélanie;
    • Edouard, Thomas;
    • Le Merrer, Martine;
    • Alanay, Yasemin;
    • Da Silva, Daniela Bezerra;
    • David, Albert;
    • Hamamy, Hanan;
    • van Hest, Liselotte;
    • Lund, Allan M.;
    • Michaud, Jacques;
    • Oley, Christine;
    • Patel, Chirag;
    • Rajab, Anna;
    • Skidmore, David L.;
    • Stewart, Helen;
    • Tauber, Maité;
    • Munnich, Arnold;
    • Cormier-Daire, Valerie
    Publication type:
    Article
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    Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.

    Published in:
    Human Mutation, 2010, v. 31, n. 1, p. 41, doi. 10.1002/humu.21136
    By:
    • Ricketts, Christopher J.;
    • Forman, Julia R.;
    • Rattenberry, Eleanor;
    • Bradshaw, Nicola;
    • Lalloo, Fiona;
    • Izatt, Louise;
    • Cole, Trevor R.;
    • Armstrong, Ruth;
    • Kumar, V.K. Ajith;
    • Morrison, Patrick J.;
    • Atkinson, A. Brew;
    • Douglas, Fiona;
    • Ball, Steve G.;
    • Cook, Jackie;
    • Srirangalingam, Umasuthan;
    • Killick, Pip;
    • Kirby, Gail;
    • Aylwin, Simon;
    • Woodward, Emma R.;
    • Evans, D. Gareth R.
    Publication type:
    Article
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    Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains.

    Published in:
    Human Mutation, 2010, v. 31, n. 1, p. E1021, doi. 10.1002/humu.21131
    By:
    • Van Kien, Philippe Khau;
    • Baux, David;
    • Pallares-Ruiz, Nathalie;
    • Baudoin, Corinne;
    • Plancke, Aurélie;
    • Chassaing, Nicolas;
    • Collignon, Patrick;
    • Drouin-Garraud, Valérie;
    • Hovnanian, Alain;
    • Martin-Coignard, Dominique;
    • Collod-Béroud, Gwenaëlle;
    • Béroud, Christophe;
    • Roux, Anne-Françoise;
    • Claustres, Mireille
    Publication type:
    Article
    25

    Database overkill.

    Published in:
    Human Mutation, 2010, v. 31, n. 1, p. 1, doi. 10.1002/humu.21164
    By:
    • Cotton, Richard G.H.
    Publication type:
    Article
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