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There are 2868 results for: content related to: Proteus syndrome review: molecular, clinical, and pathologic features

  1. You have free access to this content
    Genetics of Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome

    Clinical Genetics

    Volume 91, Issue 2, February 2017, Pages: 233–246, L. Fontana, B. Gentilin, L. Fedele, C. Gervasini and M. Miozzo

    Version of Record online : 16 NOV 2016, DOI: 10.1111/cge.12883

  2. 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

  3. You have free access to this content
    Maternal genetic polymorphisms and unexplained recurrent miscarriage: a systematic review and meta-analysis

    Clinical Genetics

    Volume 91, Issue 2, February 2017, Pages: 265–284, X. Shi, X. Xie, Y. Jia and S. Li

    Version of Record online : 30 NOV 2016, DOI: 10.1111/cge.12910

  4. Geographical and ethnic distribution of MTHFR gene polymorphisms and their associations with diseases among Chinese population

    Clinical Genetics

    B. Yang, S. Fan, X. Zhi, R. Xia, Y. Wang, Q. Zheng and G. Sun

    Version of Record online : 15 MAR 2017, DOI: 10.1111/cge.12929

  5. 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

  6. 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

  7. 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

  8. Myhre syndrome

    Clinical Genetics

    Volume 85, Issue 6, June 2014, Pages: 503–513, C. Le Goff, C. Michot and V. Cormier-Daire

    Version of Record online : 2 APR 2014, DOI: 10.1111/cge.12365

  9. Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases

    Clinical Genetics

    Volume 91, Issue 6, June 2017, Pages: 868–880, E. Ranza, C. Huber, N. Levin, G. Baujat, C. Bole-Feysot, P. Nitschke, C. Masson, Y. Alanay, L. Al-Gazali, P. Bitoun, O. Boute, P. Campeau, C. Coubes, M. McEntagart, N. Elcioglu, L. Faivre, A. Gezdirici, D. Johnson, E. Mihci, B.G. Nur, L. Perrin, C. Quelin, P. Terhal, B. Tuysuz and V. Cormier-Daire

    Version of Record online : 23 FEB 2017, DOI: 10.1111/cge.12885

  10. 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

  11. National mutation study among Danish patients with hereditary haemorrhagic telangiectasia

    Clinical Genetics

    Volume 86, Issue 2, August 2014, Pages: 123–133, P.M. Tørring, K. Brusgaard, L.B. Ousager, P.E. Andersen and A.D. Kjeldsen

    Version of Record online : 3 OCT 2013, DOI: 10.1111/cge.12269

  12. Unraveling molecular pathways shared by Kabuki and Kabuki-like syndromes

    Clinical Genetics

    C. Lintas and A.M. Persico

    Version of Record online : 1 MAR 2017, DOI: 10.1111/cge.12983

  13. The promoter polymorphisms of receptor for advanced glycation end products were associated with the susceptibility and progression of sepsis

    Clinical Genetics

    Volume 91, Issue 4, April 2017, Pages: 564–575, Y. Shao, X. Shao, J. He, Y. Cai, J. Zhao, F. Chen, H. Tao, Z. Yin, X. Tan, Y. He, Y. Lin, K. Li and L. Cui

    Version of Record online : 30 JUN 2016, DOI: 10.1111/cge.12800

  14. You have full text access to this OnlineOpen article
    Use of multigene-panel identifies pathogenic variants in several CRC-predisposing genes in patients previously tested for Lynch Syndrome

    Clinical Genetics

    Maren F. Hansen, Jostein Johansen, Anna E. Sylvander, Inga Bjørnevoll, Bente A. Talseth-Palmer, Liss A. S. Lavik, Alexandre Xavier, Lars F. Engebretsen, Rodney J. Scott, Finn Drabløs and Wenche Sjursen

    Version of Record online : 22 MAR 2017, DOI: 10.1111/cge.12994

  15. The combination of vestibular impairment and congenital sensorineural hearing loss predisposes patients to ocular anomalies, including Usher syndrome

    Clinical Genetics

    S. Kletke, V. Batmanabane, T. Dai, A. Vincent, S. Li, K.A. Gordon, B.C. Papsin, S.L. Cushing and E. Héon

    Version of Record online : 16 JAN 2017, DOI: 10.1111/cge.12895

  16. You have full text access to this OnlineOpen article
    Evaluation of a population-based approach to familial colorectal cancer

    Clinical Genetics

    Volume 91, Issue 5, May 2017, Pages: 672–682, P.S. Parfrey, E. Dicks, O. Parfrey, P.J. McNicholas, H. Noseworthy, M.O. Woods, C. Negriin and J. Green

    Version of Record online : 8 MAR 2017, DOI: 10.1111/cge.12877

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

    Clinical Genetics

    Volume 90, Issue 4, October 2016, Pages: 305–314, Y.-M. Sun, C. Lu and Z.-Y. Wu

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

  18. Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and de novo duplication 3q26.32-q27.2

    Clinical Genetics

    Volume 91, Issue 5, May 2017, Pages: 661–671, G.C. Dworschak, C. Crétolle, A. Hilger, H. Engels, E. Korsch, H. Reutter and M. Ludwig

    Version of Record online : 10 OCT 2016, DOI: 10.1111/cge.12848

  19. 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

  20. 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