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There are 32415 results for: content related to: Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families

  1. 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

  2. A genome-wide association study to detect genetic variation for postpartum dysgalactia syndrome in five commercial pig breeding lines

    Animal Genetics

    Volume 44, Issue 5, August 2013, Pages: 502–508, Regine Preissler, Jens Tetens, Kerstin Reiners, Holger Looft and Nicole Kemper

    Article first published online : 7 JUN 2013, DOI: 10.1111/age.12047

  3. 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

  4. Psychological status in female carriers of premutation FMR1 allele showing a complex relationship with the size of CGG expansion

    Clinical Genetics

    D. Z. Loesch, M. Q. Bui, E. Hammersley, A. Schneider, E. Storey, P. Stimpson, T. Burgess, D. Francis, H. Slater, F. Tassone, R. J. Hagerman and D. Hessl

    Article first published online : 17 FEB 2014, DOI: 10.1111/cge.12347

  5. A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population

    Clinical Genetics

    Volume 86, Issue 2, August 2014, Pages: 155–160, B.D. Webb, T. Brandt, L. Liu, C. Jalas, J. Liao, A. Fedick, M.D. Linderman, G.A. Diaz, R. Kornreich, H. Trachtman, L. Mehta and L. Edelmann

    Article first published online : 2 SEP 2013, DOI: 10.1111/cge.12247

  6. 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

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

    Clinical Genetics

    Volume 86, Issue 3, September 2014, Pages: 220–228, I. Filges, E. Nosova, E. Bruder, S. Tercanli, K. Townsend, W.T. Gibson, B. Röthlisberger, K. Heinimann, J.G. Hall, C.Y. Gregory-Evans, W.W. Wasserman, P. Miny and J.M. Friedman

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

  9. You have free access to this content
    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

  10. Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund–Thomson/Baller-Gerold syndromes

    Clinical Genetics

    J. Piard, B. Aral, P. Vabres, M. Holder-Espinasse, A. Mégarbané, S. Gauthier, V. Capra, G. Pierquin, P. Callier, C. Baumann, L. Pasquier, G. Baujat, L. Martorell, A. Rodriguez, A. F. Brady, F. Boralevi, M. A. González-Enseñat, M. Rio, C. Bodemer, N. Philip, M.-P. Cordier, A. Goldenberg, B. Demeer, M. Wright, E. Blair, E. Puzenat, P. Parent, Y. Sznajer, C. Francannet, N. DiDonato, O. Boute, V. Barlogis, O. Moldovan, D. Bessis, C. Coubes, M. Tardieu, V. Cormier-Daire, A. B. Sousa, J. Franques, A. Toutain, M. Tajir, S. C. Elalaoui, D. Geneviève, J. Thevenon, J.-B. Courcet, J.-B. Rivière, C. Collet, N. Gigot, L. Faivre and C. Thauvin-Robinet

    Article first published online : 26 MAR 2014, DOI: 10.1111/cge.12361

  11. 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

  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. 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

  14. 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

  15. Finnish Fanconi anemia mutations and hereditary predisposition to breast and prostate cancer

    Clinical Genetics

    T. Mantere, M. Haanpää, H. Hanenberg, J. Schleutker, A. Kallioniemi, M. Kähkönen, K. Parto, K. Avela, K. Aittomäki, H. von Koskull, J.M. Hartikainen, V.-M. Kosma, S.-L. Laasanen, A. Mannermaa, K. Pylkäs and R. Winqvist

    Article first published online : 30 JUL 2014, DOI: 10.1111/cge.12447

  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

    Volume 86, Issue 3, September 2014, Pages: 229–237, 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. Cutaneous clues for diagnosing X-chromosomal disorders

    Clinical Genetics

    Volume 85, Issue 4, April 2014, Pages: 328–335, M. Vreeburg, S.C.E.H. Sallevelt, A.P.A. Stegmann, M. van Geel, Y.J.H.A. Detisch, C.T.R.M. Schrander-Stumpel, M.A.M. van Steensel and D. Marcus-Soekarman

    Article first published online : 14 AUG 2013, DOI: 10.1111/cge.12162