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There are 28449 results for: content related to: Mutation identification of Fabry disease in families with other lysosomal storage disorders

  1. Enhancing the egg's natural defence against bacterial penetration by increasing cuticle deposition

    Animal Genetics

    Volume 44, Issue 6, December 2013, Pages: 661–668, M. M. Bain, K. Mcdade, R. Burchmore, A. Law, P. W. Wilson, M. Schmutz, R. Preisinger and I. C. Dunn

    Article first published online : 10 JUL 2013, DOI: 10.1111/age.12071

  2. SLC26A2 disease spectrum in Sweden – high frequency of recessive multiple epiphyseal dysplasia (rMED)

    Clinical Genetics

    O. Mäkitie, S. Geiberger, E. Horemuzova, L. Hagenäs, E. Moström, M. Nordenskjöld, G. Grigelioniene and A. Nordgren

    Article first published online : 1 APR 2014, DOI: 10.1111/cge.12371

  3. Implementation of high-resolution SNP arrays in the investigation of fetuses with ultrasound malformations: 5 years of clinical experience

    Clinical Genetics

    C Liao, F Fu, R Li, G-e Xie, Y-l Zhang, J Li and D-z Li

    Article first published online : 31 OCT 2013, DOI: 10.1111/cge.12271

  4. You have full text access to this OnlineOpen article
    Magnesium and strontium distributions within valves of a recent marine ostracode, Neonesidea oligodentata: Implications for paleoenvironmental reconstructions

    Geochemistry, Geophysics, Geosystems

    Volume 8, Issue 7, July 2007, Tomoaki Morishita, Atsushi Tsurumi and Takahiro Kamiya

    Article first published online : 26 JUL 2007, DOI: 10.1029/2007GC001585

  5. Craniofrontonasal syndrome in a male due to chromosomal mosaicism involving EFNB1: further insights into a genetic paradox

    Clinical Genetics

    Volume 85, Issue 4, April 2014, Pages: 347–353, C. Evers, M.S. Jungwirth, J. Morgenthaler, K. Hinderhofer, B. Maas, J.W.G. Janssen, A. Jauch, U. Hehr, H. Steinbeisser and U. Moog

    Article first published online : 27 MAY 2013, DOI: 10.1111/cge.12171

  6. Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

    Clinical Genetics

    Volume 84, Issue 6, December 2013, Pages: 507–521, P Callier, B Aral, N Hanna, S Lambert, H Dindy, C Ragon, M Payet, G Collod-Beroud, V Carmignac, MA Delrue, C Goizet, N Philip, T Busa, Y Dulac, I Missotte, Y Sznajer, A Toutain, C Francannet, A Megarbane, S Julia, T Edouard, P Sarda, J Amiel, S Lyonnet, V Cormier-Daire, B Gilbert, A Jacquette, D Heron, P Collignon, D Lacombe, F Morice-Picard, PS Jouk, V Cusin, M Willems, E Sarrazin, K Amarof, C Coubes, MC Addor, H Journel, E Colin, P Khau Van Kien, C Baumann, B Leheup, D Martin- Coignard, M Doco-Fenzy, A Goldenberg, G Plessis, J Thevenon, L Pasquier, S Odent, P Vabres, F Huet, N Marle, AL Mosca- Boidron, F Mugneret, S Gauthier, C Binquet, C Thauvin-Robinet, G Jondeau, C Boileau and L Faivre

    Article first published online : 18 MAR 2013, DOI: 10.1111/cge.12094

  7. Phenotype–genotype correlations in patients with Marinesco–Sjögren syndrome

    Clinical Genetics

    Volume 86, Issue 1, July 2014, Pages: 74–84, F. Ezgu, P. Krejci, S. Li, C. de Sousa, J.M. Graham Jr, I. Hansmann, W. He, K. Porpora, D. Wand, W. Wertelecki, A. Schneider and W.R. Wilcox

    Article first published online : 30 JUL 2013, DOI: 10.1111/cge.12230

  8. Protein expression studies of desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms

    Clinical Genetics

    Volume 84, Issue 1, July 2013, Pages: 20–30, TB Rasmussen, J Hansen, PH Nissen, J Palmfeldt, S Dalager, UB Jensen, WY Kim, L Heickendorff, H Mølgaard, HK Jensen, KE Sørensen, UT Baandrup, P Bross and J Mogensen

    Article first published online : 3 DEC 2012, DOI: 10.1111/cge.12056

  9. MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study

    Clinical Genetics

    Volume 84, Issue 6, December 2013, Pages: 539–545, P Makrythanasis, BW van Bon, M Steehouwer, B Rodríguez-Santiago, M Simpson, P Dias, BM Anderlid, P Arts, M Bhat, B Augello, E Biamino, EMHF Bongers, M del Campo, I Cordeiro, AM Cueto-González, I Cuscó, C Deshpande, E Frysira, L Izatt, R Flores, E Galán, B Gener, C Gilissen, SM Granneman, J Hoyer, HG Yntema, CM Kets, DA Koolen, CL Marcelis, A Medeira, L Micale, S Mohammed, SA de Munnik, A Nordgren, S Psoni, W Reardon, N Revencu, T Roscioli, M Ruiterkamp-Versteeg, HG Santos, J Schoumans, JHM Schuurs-Hoeijmakers, MC Silengo, L Toledo, T Vendrell, I van der Burgt, B van Lier, C Zweier, A Reymond, RC Trembath, L Perez-Jurado, J Dupont, BBA de Vries, HG Brunner, JA Veltman, G Merla, SE Antonarakis and A Hoischen

    Article first published online : 26 APR 2013, DOI: 10.1111/cge.12081

  10. Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype

    Clinical Genetics

    I Filges, E Nosova, E Bruder, S Tercanli, K Townsend, WT Gibson, B Röthlisberger, K Heinimann, JG Hall, CY Gregory-Evans, WW Wasserman, P Miny and JM Friedman

    Article first published online : 18 NOV 2013, DOI: 10.1111/cge.12301

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    The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings

    Clinical Genetics

    Volume 84, Issue 4, October 2013, Pages: 303–314, FC Connell, K Gordon, G Brice, V Keeley, S Jeffery, PS Mortimer, S Mansour and P Ostergaard

    Article first published online : 27 JUN 2013, DOI: 10.1111/cge.12173

  12. A cross-sectional multicenter study of osteogenesis imperfecta in North America – results from the linked clinical research centers

    Clinical Genetics

    R.M. Patel, S.C.S. Nagamani, D. Cuthbertson, P.M. Campeau, J.P. Krischer, J.R. Shapiro, R.D. Steiner, P.A. Smith, M.B. Bober, P.H. Byers, M. Pepin, M. Durigova, F.H. Glorieux, F. Rauch, B.H. Lee, T. Hart and V.R. Sutton

    Article first published online : 30 MAY 2014, DOI: 10.1111/cge.12409

  13. You have free access to this content
    Detection of novel genetic variation in autosomal dominant retinitis pigmentosa

    Clinical Genetics

    Volume 84, Issue 5, November 2013, Pages: 441–452, E Borràs, M de Sousa Dias, I Hernan, B Pascual, B Mañé, MJ Gamundi, B Delás and M Carballo

    Article first published online : 15 APR 2013, DOI: 10.1111/cge.12151

  14. Molecular characterization of 39 de novosSMC: contribution to prognosis and genetic counselling, a prospective study

    Clinical Genetics

    Volume 85, Issue 3, March 2014, Pages: 233–244, N. Marle, D. Martinet, A. Aboura, G. Joly-Helas, J. Andrieux, E. Flori, J. Puechberty, F. Vialard, D. Sanlaville, S. Fert Ferrer, G. Bourrouillou, A.C. Tabet, B. Quilichini, B. Simon-Bouy, A. Bazin, M. Becker, H. Stora, S. Amblard, M. Doco-Fenzy, D. Molina Gomes, F. Girard-Lemaire, M.P. Cordier, V. Satre, A. Schneider, N. Lemeur, P. Chambon, S. Jacquemont, F. Fellmann, A. Vigouroux-Castera, R. Molignier, A. Delaye, E. Pipiras, A. Liquier, T. Rousseau, A.L. Mosca, V. Kremer, M. Payet, C. Rangon, F. Mugneret, S. Aho, L. Faivre and P. Callier

    Article first published online : 5 APR 2013, DOI: 10.1111/cge.12138

  15. You have full text access to this OnlineOpen article
    WDR19: An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome

    Clinical Genetics

    Volume 84, Issue 2, August 2013, Pages: 150–159, R G Coussa, E A Otto, H-Y Gee, P Arthurs, H Ren, I Lopez, V Keser, Q Fu, R Faingold, A Khan, J Schwartzentruber, J Majewski, F Hildebrandt and R K Koenekoop

    Article first published online : 9 JUL 2013, DOI: 10.1111/cge.12196

  16. You have full text access to this OnlineOpen article
    Genetic variation in MKL2 and decreased downstream PCTAIRE1 expression in extreme, fatal primary human microcephaly

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 423–432, E.I. Ramos, G.A. Bien-Willner, J. Li, A.E.O. Hughes, J. Giacalone, S. Chasnoff, S. Kulkarni, M. Parmacek, F.S. Cole and T.E. Druley

    Article first published online : 18 JUN 2013, DOI: 10.1111/cge.12197

  17. A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands

    Clinical Genetics

    Volume 85, Issue 4, April 2014, Pages: 318–327, R. van Minkelen, Y. van Bever, J.N.R. Kromosoeto, C.J. Withagen-Hermans, A. Nieuwlaat, D.J.J. Halley and A.M.W. van den Ouweland

    Article first published online : 25 JUN 2013, DOI: 10.1111/cge.12187

  18. A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes

    Clinical Genetics

    J.M. Eggington, K.R. Bowles, K. Moyes, S. Manley, L. Esterling, S. Sizemore, E. Rosenthal, A. Theisen, J. Saam, C. Arnell, D. Pruss, J. Bennett, L.A. Burbidge, B. Roa and R.J. Wenstrup

    Article first published online : 20 DEC 2013, DOI: 10.1111/cge.12315

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    The uptake and outcome of prenatal and pre-implantation genetic diagnosis for Huntington's disease in the Netherlands (1998–2008)

    Clinical Genetics

    Volume 85, Issue 1, January 2014, Pages: 87–95, MC van Rij, PAM de Koning Gans, MJ van Belzen, RAC Roos, JPM Geraedts, M De Rademaeker, EK Bijlsma and CEM de Die-Smulders

    Article first published online : 21 MAR 2013, DOI: 10.1111/cge.12089

  20. You have free access to this content
    A systematic approach to assessing the clinical significance of genetic variants

    Clinical Genetics

    Volume 84, Issue 5, November 2013, Pages: 453–463, H Duzkale, J Shen, H McLaughlin, A Alfares, MA Kelly, TJ Pugh, BH Funke, HL Rehm and MS Lebo

    Article first published online : 17 OCT 2013, DOI: 10.1111/cge.12257