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There are 49335 results for: content related to: Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease

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    High prevalence of genetic variants previously associated with Brugada syndrome in new exome data

    Clinical Genetics

    Volume 84, Issue 5, November 2013, Pages: 489–495, B Risgaard, R Jabbari, L Refsgaard, AG Holst, S Haunsø, A Sadjadieh, BG Winkel, MS Olesen and J Tfelt-Hansen

    Version of Record online : 11 MAR 2013, DOI: 10.1111/cge.12126

  2. Molecular analyses of novel ASAH1 mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation

    Clinical Genetics

    Volume 86, Issue 6, December 2014, Pages: 530–538, M.D. Bashyam, A.K. Chaudhary, M. Kiran, V. Reddy, H.A. Nagarajaram, A. Dalal, L. Bashyam, D. Suri, A. Gupta, N. Gupta, M. Kabra, R.D. Puri, R. RamaDevi, S. Kapoor and S. Danda

    Version of Record online : 20 DEC 2013, DOI: 10.1111/cge.12316

  3. Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients

    Clinical Genetics

    Volume 90, Issue 4, October 2016, Pages: 324–333, F. Lhota, P. Zemankova, P. Kleiblova, J. Soukupova, M. Vocka, V. Stranecky, M. Janatova, H. Hartmannova, K. Hodanova, S. Kmoch and Z. Kleibl

    Version of Record online : 4 MAR 2016, DOI: 10.1111/cge.12748

  4. A novel DNAJB6 mutation causes dominantly inherited distal-onset myopathy and compromises DNAJB6 function

    Clinical Genetics

    P.-C. Tsai, Y.-S. Tsai, B.-W. Soong, Y.-H. Huang, H.-T. Wu, Y.-H. Chen, K.-P. Lin, Y.-C. Liao and Y.-C. Lee

    Version of Record online : 12 APR 2017, DOI: 10.1111/cge.13001

  5. Genetic testing for RAD51C mutations: in the clinic and community

    Clinical Genetics

    Volume 88, Issue 4, October 2015, Pages: 303–312, V. Sopik, M.R. Akbari and S.A. Narod

    Version of Record online : 7 JAN 2015, DOI: 10.1111/cge.12548

  6. Coffin–Siris syndrome is a SWI/SNF complex disorder

    Clinical Genetics

    Volume 85, Issue 6, June 2014, Pages: 548–554, Y. Tsurusaki, N. Okamoto, H. Ohashi, S. Mizuno, N. Matsumoto, Y. Makita, M. Fukuda, B. Isidor, J. Perrier, S. Aggarwal, A.B. Dalal, A. Al-Kindy, J. Liebelt, D. Mowat, M. Nakashima, H. Saitsu, N. Miyake and N. Matsumoto

    Version of Record online : 23 JUL 2013, DOI: 10.1111/cge.12225

  7. Choroidal abnormalities in café-au-lait syndromes: a new differential diagnostic tool?

    Clinical Genetics

    Volume 91, Issue 4, April 2017, Pages: 529–535, C. Cassiman, I. Casteels, J. Jacob, E. Plasschaert, H. Brems, K. Dubron, K.V. Keer and E. Legius

    Version of Record online : 24 NOV 2016, DOI: 10.1111/cge.12873

  8. Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing

    Clinical Genetics

    T.B. Balci, T. Hartley, Y. Xi, D.A. Dyment, C.L. Beaulieu, F.P. Bernier, L. Dupuis, G.A. Horvath, R. Mendoza-Londono, C. Prasad, J. Richer, X.-R. Yang, C.M. Armour, E. Bareke, B.A. Fernandez, H.J. McMillan, R.E. Lamont, J. Majewski, J.S. Parboosingh, A.N. Prasad, C.A. Rupar, J. Schwartzentruber, A.C. Smith, M. Tétreault, FORGE Canada Consortium, Care4Rare Canada Consortium, A.M. Innes and K.M. Boycott

    Version of Record online : 13 MAR 2017, DOI: 10.1111/cge.12987

  9. p.L18P: a novel IDUA mutation that causes a distinct attenuated phenotype in mucopolysaccharidosis type I patients

    Clinical Genetics

    Volume 88, Issue 4, October 2015, Pages: 376–380, G. Pasqualim, M.G. Ribeiro, G.G.G. da Fonseca, M. Szlago, A. Schenone, A. Lemes, M.V.M. Rojas, U. Matte and R. Giugliani

    Version of Record online : 21 OCT 2014, DOI: 10.1111/cge.12507

  10. Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome

    Clinical Genetics

    Volume 87, Issue 6, June 2015, Pages: 507–516, G. Ponti, E. Castellsagué, C. Ruini, A. Percesepe and A. Tomasi

    Version of Record online : 9 DEC 2014, DOI: 10.1111/cge.12529

  11. Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disorders

    Clinical Genetics

    Volume 87, Issue 5, May 2015, Pages: 430–439, A. Chaussenot, C. Rouzier, M. Quere, M. Plutino, S. Ait-El-Mkadem, S. Bannwarth, M. Barth, H. Dollfus, P. Charles, M. Nicolino, B. Chabrol, B. Vialettes and V. Paquis-Flucklinger

    Version of Record online : 6 AUG 2014, DOI: 10.1111/cge.12437

  12. Analysis of ASPM in an ethnically diverse cohort of 400 patient samples: perspectives of the molecular diagnostic laboratory

    Clinical Genetics

    Volume 85, Issue 4, April 2014, Pages: 353–358, CA Tan, D. del Gaudio, M.A. Dempsey, K. Arndt, S. Botes, A. Reeder and S. Das

    Version of Record online : 13 MAY 2013, DOI: 10.1111/cge.12172

  13. Genetics of hypertrophic cardiomyopathy in Norway

    Clinical Genetics

    Volume 86, Issue 4, October 2014, Pages: 355–360, K.E. Berge and T.P. Leren

    Version of Record online : 23 OCT 2013, DOI: 10.1111/cge.12286

  14. Phenotypes and cellular effects of GJB1 mutations causing CMT1X in a cohort of 226 Chinese CMT families

    Clinical Genetics

    Volume 91, Issue 6, June 2017, Pages: 881–891, L. Liu, X.B. Li, Z.H.M. Hu, X.H. Zi, X. Zhao, Y.Z. Xie, S.H.X. Huang, K. Xia, B.S. Tang and R.X. Zhang

    Version of Record online : 8 MAR 2017, DOI: 10.1111/cge.12913

  15. Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population

    Clinical Genetics

    Volume 91, Issue 3, March 2017, Pages: 386–402, Z. Fattahi, Z. Kalhor, M. Fadaee, R. Vazehan, E. Parsimehr, A. Abolhassani, M. Beheshtian, G. Zamani, S. Nafissi, Y. Nilipour, M.R. Akbari, K. Kahrizi, A. Kariminejad and H. Najmabadi

    Version of Record online : 21 JUL 2016, DOI: 10.1111/cge.12810

  16. Reassessing the clinical spectrum associated with hereditary leiomyomatosis and renal cell carcinoma syndrome in French FH mutation carriers

    Clinical Genetics

    M. Muller, S. Ferlicot, M. Guillaud-Bataille, G. Le Teuff, C. Genestie, S. Deveaux, A. Slama, N. Poulalhon, B. Escudier, L. Albiges, N. Soufir, M.-F. Avril, B. Gardie, C. Saldana, Y. Allory, A.-P. Gimenez-Roqueplo, B. Bressac-de Paillerets, S. Richard and P.R. Benusiglio

    Version of Record online : 2 MAY 2017, DOI: 10.1111/cge.13014

  17. Genetic, epidemiologic and clinicopathologic studies of Japanese Asian patients with Birt–Hogg–Dubé syndrome

    Clinical Genetics

    Volume 90, Issue 5, November 2016, Pages: 403–412, Mitsuko Furuya, Masahiro Yao, Reiko Tanaka, Yoji Nagashima, Naoto Kuroda, Hisashi Hasumi, Masaya Baba, Jun Matsushima, Fumio Nomura and Yukio Nakatani

    Version of Record online : 30 JUN 2016, DOI: 10.1111/cge.12807

  18. Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases

    Clinical Genetics

    Volume 89, Issue 3, March 2016, Pages: 285–294, K. Rai, R. Pilarski, C.M. Cebulla and M.H. Abdel-Rahman

    Version of Record online : 14 JUL 2015, DOI: 10.1111/cge.12630

  19. Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II

    Clinical Genetics

    Volume 90, Issue 6, December 2016, Pages: 496–508, A. Uttarilli, P. Ranganath, D. Matta, J. Md Nurul Jain, K. Prasad, A.S. Babu, K.M. Girisha, I.C. Verma, S.R. Phadke, K. Mandal, R.D. Puri, S. Aggarwal, S. Danda, V.H. Sankar, S. Kapoor, M. Bhat, K. Gowrishankar, A.Q. Hasan, M. Nair, S. Nampoothiri and A. Dalal

    Version of Record online : 26 MAY 2016, DOI: 10.1111/cge.12795

  20. Diagnostic pitfall in antenatal manifestations of CPT II deficiency

    Clinical Genetics

    Volume 89, Issue 2, February 2016, Pages: 193–197, F. Boemer, M. Deberg, R. Schoos, J.-H. Caberg, S. Gaillez, C. Dugauquier, K. Delbecque, A. François, P. Maton, N. Demonceau, G. Senterre, S. Ferdinandusse and F.-G. Debray

    Version of Record online : 5 MAY 2015, DOI: 10.1111/cge.12593