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There are 27228 results for: content related to: NPHP4 mutation is linked to cerebello-oculo-renal syndrome and male infertility

  1. 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

  2. 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

  3. Olfaction evaluation and correlation with brain atrophy in Bardet-Biedl syndrome

    Clinical Genetics

    J.-J. Braun, V. Noblet, M. Durand, S. Scheidecker, A. Zinetti-Bertschy, J. Foucher, V. Marion, J. Muller, S. Riehm, H. Dollfus and S. Kremer

    Article first published online : 18 APR 2014, DOI: 10.1111/cge.12391

  4. Combining fetal sonography with genetic and allele pathogenicity studies to secure a neonatal diagnosis of Bardet–Biedl syndrome

    Clinical Genetics

    Volume 83, Issue 6, June 2013, Pages: 553–559, E Ashkinadze, T Rosen, SS Brooks, N Katsanis and EE Davis

    Article first published online : 14 OCT 2012, DOI: 10.1111/cge.12022

  5. Mesoaxial polydactyly is a major feature in Bardet–Biedl syndrome patients with LZTFL1 (BBS17) mutations

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 476–481, E. Schaefer, J. Lauer, M. Durand, V. Pelletier, C. Obringer, A. Claussmann, J.-J. Braun, C. Redin, C. Mathis, J. Muller, C. Schmidt-Mutter, E. Flori, V. Marion, C. Stoetzel and H. Dollfus

    Article first published online : 12 JUN 2013, DOI: 10.1111/cge.12198

  6. Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype

    Clinical Genetics

    Volume 84, Issue 3, September 2013, Pages: 213–222, H Carmichael, Y Shen, TT Nguyen, JN Hirschhorn and A Dauber

    Article first published online : 20 DEC 2012, DOI: 10.1111/cge.12064

  7. Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort

    Clinical Genetics

    C. Sathya Priya, P. Sen, V. Umashankar, N. Gupta, M. Kabra, G. Kumaramanickavel, C. Stoetzel, H. Dollfus and S. Sripriya

    Article first published online : 18 FEB 2014, DOI: 10.1111/cge.12342

  8. Clinical and genetic characterization of Bardet–Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis

    Clinical Genetics

    Volume 85, Issue 2, February 2014, Pages: 172–177, O. M'hamdi, C. Redin, C. Stoetzel, I. Ouertani, M. Chaabouni, F. Maazoul, R. M'rad, J.L. Mandel, H. Dollfus, J. Muller and H. Chaabouni

    Article first published online : 5 APR 2013, DOI: 10.1111/cge.12129

  9. You have full text access to this OnlineOpen article
    Genetic predictors of cardiovascular morbidity in Bardet–Biedl syndrome

    Clinical Genetics

    E. Forsythe, K. Sparks, B.E. Hoskins, E. Bagkeris, B.M. McGowan, P.V. Carroll, M.S.B. Huda, S. Mujahid, C. Peters, T. Barrett, S. Mohammed and P.L. Beales

    Article first published online : 8 APR 2014, DOI: 10.1111/cge.12373

  10. You have free access to this content
    Retinal optogenetic therapies: clinical criteria for candidacy

    Clinical Genetics

    Volume 84, Issue 2, August 2013, Pages: 175–182, S G Jacobson, A Sumaroka, X Luo and A V Cideciyan

    Article first published online : 13 MAY 2013, DOI: 10.1111/cge.12165

  11. Carrier frequency of two BBS2 mutations in the Ashkenazi population

    Clinical Genetics

    Volume 85, Issue 6, June 2014, Pages: 578–582, A. Fedick, C. Jalas, D. Abeliovich, Y. Krakinovsky, J. Ekstein, A. Ekstein and N.R. Treff

    Article first published online : 28 JUL 2013, DOI: 10.1111/cge.12231

  12. Autism spectrum disorder in the genetics clinic: a review

    Clinical Genetics

    Volume 83, Issue 5, May 2013, Pages: 399–407, MT Carter and SW Scherer

    Article first published online : 21 FEB 2013, DOI: 10.1111/cge.12101

  13. Perspectives of clinical genetics professionals toward genome sequencing and incidental findings: a survey study

    Clinical Genetics

    Volume 84, Issue 3, September 2013, Pages: 230–236, AA Lemke, D Bick, D Dimmock, P Simpson and R Veith

    Article first published online : 7 DEC 2012, DOI: 10.1111/cge.12060

  14. You have free access to this content
    Genes and mutations causing retinitis pigmentosa

    Clinical Genetics

    Volume 84, Issue 2, August 2013, Pages: 132–141, S P Daiger, L S Sullivan and S J Bowne

    Article first published online : 19 JUN 2013, DOI: 10.1111/cge.12203

  15. 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

  16. 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

  17. Unmasking Kabuki syndrome

    Clinical Genetics

    Volume 83, Issue 3, March 2013, Pages: 201–211, N Bögershausen and B Wollnik

    Article first published online : 26 NOV 2012, DOI: 10.1111/cge.12051

  18. 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

  19. Making headway with genetic diagnostics of intellectual disabilities

    Clinical Genetics

    Volume 85, Issue 2, February 2014, Pages: 101–110, M.H. Willemsen and T. Kleefstra

    Article first published online : 25 AUG 2013, DOI: 10.1111/cge.12244

  20. 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