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There are 8037631 results for: content related to: Alu-mediated large deletion of the CDSN gene as a cause of peeling skin disease

  1. Sociodemographic, psychosocial and clinical factors associated with uptake of genetic counselling for hereditary cancer: a systematic review

    Clinical Genetics

    A.M. Willis, S.K. Smith, B. Meiser, M.L. Ballinger, D.M. Thomas and M.-A. Young

    Version of Record online : 23 OCT 2016, DOI: 10.1111/cge.12868

  2. The gastrointestinal manifestation of constitutional mismatch repair deficiency syndrome: from a single adenoma to polyposis-like phenotype and early onset cancer

    Clinical Genetics

    Volume 88, Issue 5, November 2015, Pages: 474–478, Z. Levi, R. Kariv, I. Barnes-Kedar, Y. Goldberg, E. Half, S. Morgentern, B. Eli, H.N. Baris, A. Vilkin, R.G. Belfer, Y. Niv, R. Elhasid, R. Dvir, N. Abu-Freha and S. Cohen

    Version of Record online : 10 NOV 2014, DOI: 10.1111/cge.12518

  3. Cardiovascular manifestations in Marfan syndrome and related diseases; multiple genes causing similar phenotypes

    Clinical Genetics

    Volume 87, Issue 1, January 2015, Pages: 11–20, J.R. Cook, L. Carta, J. Galatioto and F. Ramirez

    Version of Record online : 10 JUL 2014, DOI: 10.1111/cge.12436

  4. Cross-border reprogenetic services

    Clinical Genetics

    Volume 87, Issue 1, January 2015, Pages: 1–10, V. Couture, R. Drouin, S.-L. Tan, J.-M. Moutquin and C. Bouffard

    Version of Record online : 6 JUN 2014, DOI: 10.1111/cge.12418

  5. The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features

    Clinical Genetics

    Volume 87, Issue 5, May 2015, Pages: 401–410, M. Ruggieri, A. Polizzi, A. Spalice, V. Salpietro, R. Caltabiano, V. D'Orazi, P. Pavone, C. Pirrone, G. Magro, N. Platania, S. Cavallaro, M. Muglia and F. Nicita

    Version of Record online : 22 NOV 2014, DOI: 10.1111/cge.12498

  6. Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes

    Clinical Genetics

    Volume 86, Issue 2, August 2014, Pages: 142–148, E. Weh, L.M. Reis, R.C. Tyler, D. Bick, W.J. Rhead, S. Wallace, T.L. McGregor, S.K. Dills, M.-C. Chao, J.C. Murray and E.V. Semina

    Version of Record online : 17 SEP 2013, DOI: 10.1111/cge.12241

  7. You have full text access to this OnlineOpen article
    Panel-based testing for inherited colorectal cancer: a descriptive study of clinical testing performed by a US laboratory

    Clinical Genetics

    Volume 86, Issue 6, December 2014, Pages: 510–520, D. Cragun, C. Radford, J.S. Dolinsky, M. Caldwell, E. Chao and T. Pal

    Version of Record online : 20 MAR 2014, DOI: 10.1111/cge.12359

  8. Recognizing the tenascin-X deficient type of Ehlers–Danlos syndrome: a cross-sectional study in 17 patients

    Clinical Genetics

    S. Demirdas, E. Dulfer, L. Robert, M. Kempers, D. van Beek, D. Micha, B.G. van Engelen, B. Hamel, J. Schalkwijk, B. Loeys, A. Maugeri and N.C. Voermans

    Version of Record online : 4 NOV 2016, DOI: 10.1111/cge.12853

  9. Predictive genetic testing for adult-onset disorders in minors: a critical analysis of the arguments for and against the 2013 ACMG guidelines

    Clinical Genetics

    Volume 87, Issue 4, April 2015, Pages: 301–310, J.A. Anderson, R.Z. Hayeems, C. Shuman, M.J. Szego, N. Monfared, S. Bowdin, R. Zlotnik Shaul and M.S. Meyn

    Version of Record online : 7 OCT 2014, DOI: 10.1111/cge.12460

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

    Clinical Genetics

    Volume 87, Issue 3, March 2015, Pages: 244–251, 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

    Version of Record online : 26 MAR 2014, DOI: 10.1111/cge.12361

  11. Genetic and bioinformatics analysis of four novel GCK missense variants detected in Caucasian families with GCK-MODY phenotype

    Clinical Genetics

    Volume 87, Issue 5, May 2015, Pages: 440–447, S. Costantini, G. Malerba, G. Contreas, M. Corradi, S.P. Marin Vargas, A. Giorgetti and C. Maffeis

    Version of Record online : 6 JUN 2014, DOI: 10.1111/cge.12406

  12. You have free access to this content
    Cleidocranial dysplasia and RUNX2-clinical phenotype–genotype correlation

    Clinical Genetics

    Volume 90, Issue 5, November 2016, Pages: 393–402, A. Jaruga, E. Hordyjewska, G. Kandzierski and P. Tylzanowski

    Version of Record online : 30 JUN 2016, DOI: 10.1111/cge.12812

  13. Exploration of the cognitive, adaptive and behavioral functioning of patients affected with Bardet–Biedl syndrome

    Clinical Genetics

    Volume 89, Issue 4, April 2016, Pages: 426–433, E. N. Kerr, A. Bhan and E. Héon

    Version of Record online : 16 JUN 2015, DOI: 10.1111/cge.12614

  14. Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases

    Clinical Genetics

    Volume 86, Issue 3, September 2014, Pages: 252–257, C. Fallerini, L. Dosa, R. Tita, D. Del Prete, S. Feriozzi, G. Gai, M. Clementi, A. La Manna, N. Miglietti, R. Mancini, G. Mandrile, G.M. Ghiggeri, G. Piaggio, F. Brancati, L. Diano, E. Frate, A.R. Pinciaroli, M. Giani, P. Castorina, E. Bresin, D. Giachino, M. De Marchi, F. Mari, M. Bruttini, A. Renieri and F. Ariani

    Version of Record online : 17 OCT 2013, DOI: 10.1111/cge.12258

  15. The psychological impact of breast and ovarian cancer preventive options in BRCA1 and BRCA2 mutation carriers

    Clinical Genetics

    Volume 85, Issue 1, January 2014, Pages: 7–15, C Borreani, S Manoukian, E Bianchi, C Brunelli, B Peissel, A Caruso, G Morasso and MA Pierotti

    Version of Record online : 5 NOV 2013, DOI: 10.1111/cge.12298

  16. You have free access to this content
    Hypomyelinating leukodystrophies — a molecular insight into the white matter pathology

    Clinical Genetics

    Volume 90, Issue 4, October 2016, Pages: 293–304, A. Charzewska, J. Wierzba, E. Iżycka-Świeszewska, M. Bekiesińska-Figatowska, M. Jurek, A. Gintowt, A. Kłosowska, J. Bal and D. Hoffman-Zacharska

    Version of Record online : 17 JUN 2016, DOI: 10.1111/cge.12811

  17. Hearing loss in Waardenburg syndrome: a systematic review

    Clinical Genetics

    Volume 89, Issue 4, April 2016, Pages: 416–425, J. Song, Y. Feng, F.R. Acke, P. Coucke, K. Vleminckx and I.J. Dhooge

    Version of Record online : 17 JUL 2015, DOI: 10.1111/cge.12631

  18. Utility of clinical high-depth next generation sequencing for somatic variant detection in the PIK3CA-related overgrowth spectrum

    Clinical Genetics

    V. Hucthagowder, A. Shenoy, M. Corliss, K.A. Vigh-Conrad, C. Storer, D.K. Grange and C.E. Cottrell

    Version of Record online : 26 JUL 2016, DOI: 10.1111/cge.12819

  19. Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral–facial–digital syndrome with short stature and brachymesophalangia

    Clinical Genetics

    Volume 90, Issue 6, December 2016, Pages: 509–517, J. Thevenon, L. Duplomb, S. Phadke, T. Eguether, A. Saunier, M. Avila, V. Carmignac, A.-L. Bruel, J. St-Onge, Y. Duffourd, G.J. Pazour, B. Franco, T. Attie-Bitach, A. Masurel-Paulet, J.-B. Rivière, V. Cormier-Daire, C. Philippe, L. Faivre and C. Thauvin-Robinet

    Version of Record online : 29 APR 2016, DOI: 10.1111/cge.12785

  20. You have free access to this content
    X-chromosome inactivation in female patients with Fabry disease

    Clinical Genetics

    Volume 89, Issue 1, January 2016, Pages: 44–54, L. Echevarria, K. Benistan, A. Toussaint, O. Dubourg, A.A. Hagege, D. Eladari, F. Jabbour, C. Beldjord, P. De Mazancourt and D.P. Germain

    Version of Record online : 22 JUN 2015, DOI: 10.1111/cge.12613