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There are 24575 results for: content related to: High prevalence of BRCA1 founder mutations in Greek breast/ovarian families

  1. 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

  2. Immunologic assessment and KMT2D mutation detection in Kabuki syndrome

    Clinical Genetics

    Volume 88, Issue 3, September 2015, Pages: 255–260, J.-L. Lin, W.-I. Lee, J.-L. Huang, P. K.-T. Chen, K.-C. Chan, L.-J. Lo, Y.-J. You, Y.-F. Shih, T.-Y. Tseng and M.-C. Wu

    Version of Record online : 13 OCT 2014, DOI: 10.1111/cge.12484

  3. Comprehensive analysis of dural ectasia in 150 patients with a causative FBN1 mutation

    Clinical Genetics

    Volume 86, Issue 3, September 2014, Pages: 238–245, S. Sheikhzadeh, C. Sondermann, M. Rybczynski, C.R. Habermann, L. Brockstaedt, B. Keyser, H. Kaemmerer, T. Mir, A. Staebler, P.N. Robinson, K. Kutsche, J. Berger, S. Blankenberg and Y. von Kodolitsch

    Version of Record online : 23 SEP 2013, DOI: 10.1111/cge.12264

  4. Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease

    Clinical Genetics

    L. Allou, S. Julia, D. Amsallem, S. El Chehadeh, L. Lambert, J. Thevenon, Y. Duffourd, A. Saunier, P. Bouquet, S. Pere, A. Moustaïne, L. Ruaud, V. Roth, P. Jonveaux and C. Philippe

    Version of Record online : 11 MAY 2016, DOI: 10.1111/cge.12784

  5. 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

  6. 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

  7. 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

  8. You have free access to this content
    Genetics of the corneal endothelial dystrophies: an evidence-based review

    Clinical Genetics

    Volume 84, Issue 2, August 2013, Pages: 109–119, A J Aldave, J Han and R F Frausto

    Version of Record online : 10 JUN 2013, DOI: 10.1111/cge.12191

  9. 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

  10. Spinocerebellar ataxia: relationship between phenotype and genotype – a review

    Clinical Genetics

    Y.-M. Sun, C. Lu and Z.-Y. Wu

    Version of Record online : 30 JUN 2016, DOI: 10.1111/cge.12808

  11. 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

  12. Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies

    Clinical Genetics

    Volume 88, Issue 6, December 2015, Pages: 550–557, A.M. McInerney-Leo, J.E. Harris, P.J. Leo, M.S. Marshall, B. Gardiner, E. Kinning, H.Y. Leong, F. McKenzie, W.P. Ong, J. Vodopiutz, C. Wicking, M.A. Brown, A. Zankl and E.L. Duncan

    Version of Record online : 17 FEB 2015, DOI: 10.1111/cge.12550

  13. (Epi)genotype–phenotype correlations in Beckwith–Wiedemann syndrome: a paradigm for genomic medicine

    Clinical Genetics

    Volume 89, Issue 4, April 2016, Pages: 403–415, A. Mussa, S. Russo, L. Larizza, A. Riccio and G.B. Ferrero

    Version of Record online : 30 JUL 2015, DOI: 10.1111/cge.12635

  14. You have free access to this content
    Diagnostic algorithms in Charcot–Marie–Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients

    Clinical Genetics

    Volume 89, Issue 1, January 2016, Pages: 34–43, S. Rudnik-Schöneborn, D. Tölle, J. Senderek, K. Eggermann, M. Elbracht, U. Kornak, M. von der Hagen, J. Kirschner, B. Leube, W. Müller-Felber, U. Schara, K. von Au, D. Wieczorek, C. Bußmann and K. Zerres

    Version of Record online : 29 APR 2015, DOI: 10.1111/cge.12594

  15. Phenylalanine hydroxylase deficiency in Mexico: genotype–phenotype correlations, BH4 responsiveness and evidence of a founder effect

    Clinical Genetics

    Volume 88, Issue 1, July 2015, Pages: 62–67, M. Vela-Amieva, M. Abreu-González, A. González-del Angel, I. Ibarra-González, C. Fernández-Lainez, R. Barrientos-Ríos, S. Monroy-Santoyo, S. Guillén-López and M.A. Alcántara-Ortigoza

    Version of Record online : 26 JUL 2014, DOI: 10.1111/cge.12444

  16. 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

  17. 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

  18. Cornelia de Lange syndrome

    Clinical Genetics

    Volume 88, Issue 1, July 2015, Pages: 1–12, M.I. Boyle, C. Jespersgaard, K. Brøndum-Nielsen, A.-M. Bisgaard and Z. Tümer

    Version of Record online : 28 OCT 2014, DOI: 10.1111/cge.12499

  19. Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia

    Clinical Genetics

    Volume 86, Issue 4, October 2014, Pages: 326–334, N. Chassaing, A. Causse, A. Vigouroux, A. Delahaye, J.-L. Alessandri, O. Boespflug-Tanguy, O. Boute-Benejean, H. Dollfus, B. Duban-Bedu, B. Gilbert-Dussardier, F. Giuliano, M. Gonzales, M. Holder-Espinasse, B. Isidor, M.-L. Jacquemont, D. Lacombe, D. Martin-Coignard, M. Mathieu-Dramard, S. Odent, O. Picone, L. Pinson, C. Quelin, S. Sigaudy, A. Toutain, C. Thauvin-Robinet, Josseline Kaplan and Patrick Calvas

    Version of Record online : 7 OCT 2013, DOI: 10.1111/cge.12275

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

    Clinical Genetics

    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