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There are 3547 results for: content related to: SPG4 -related hereditary spastic paraplegia: frequency and mutation spectrum in Brazil

  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
    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

  3. 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

  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. 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

  6. 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

  7. 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

  8. 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

  9. Molecular genetic analysis of 30 families with Joubert syndrome

    Clinical Genetics

    Volume 90, Issue 6, December 2016, Pages: 526–535, T. Suzuki, N. Miyake, Y. Tsurusaki, N. Okamoto, A. Alkindy, A. Inaba, M. Sato, S. Ito, K. Muramatsu, S. Kimura, D. Ieda, S. Saitoh, M. Hiyane, H. Suzumura, K. Yagyu, H. Shiraishi, M. Nakajima, N. Fueki, Y. Habata, Y. Ueda, Y. Komatsu, K. Yan, K. Shimoda, Y. Shitara, S. Mizuno, K. Ichinomiya, K. Sameshima, Y. Tsuyusaki, K. Kurosawa, Y. Sakai, K. Haginoya, Y. Kobayashi, C. Yoshizawa, M. Hisano, M. Nakashima, H. Saitsu, S. Takeda and N. Matsumoto

    Version of Record online : 26 SEP 2016, DOI: 10.1111/cge.12836

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    Integration of 60,000 exomes and ACMG guidelines question the role of Catecholaminergic Polymorphic Ventricular Tachycardia-associated variants

    Clinical Genetics

    Volume 91, Issue 1, January 2017, Pages: 63–72, C. Paludan-Müller, G. Ahlberg, J. Ghouse, C. Herfelt, J.H. Svendsen, S. Haunsø, J.K. Kanters and M.S. Olesen

    Version of Record online : 26 SEP 2016, DOI: 10.1111/cge.12847

  11. Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?

    Clinical Genetics

    S. El Chehadeh, R. Touraine, F. Prieur, W. Reardon, T. Bienvenu, S. Chantot-Bastaraud, M. Doco-Fenzy, E. Landais, C. Philippe, N. Marle, P. Callier, A.-L. Mosca-Boidron, F. Mugneret, N. Le Meur, A. Goldenberg, A.-M. Guerrot, P. Chambon, V. Satre, C. Coutton, P.-S. Jouk, F. Devillard, K. Dieterich, A. Afenjar, L. Burglen, M.-L. Moutard, M.-C. Addor, S. Lebon, D. Martinet, J.-L. Alessandri, B. Doray, M. Miguet, D. Devys, P. Saugier-Veber, S. Drunat, B. Aral, V. Kremer, S. Rondeau, A.-C. Tabet, J. Thevenon, C. Thauvin-Robinet, N. Perreton, V. Des Portes and L. Faivre

    Version of Record online : 16 FEB 2017, DOI: 10.1111/cge.12898

  12. Phenotype–genotype correlations in patients with Marinesco–Sjögren syndrome

    Clinical Genetics

    Volume 86, Issue 1, July 2014, Pages: 74–84, F. Ezgu, P. Krejci, S. Li, C. de Sousa, J.M. Graham Jr, I. Hansmann, W. He, K. Porpora, D. Wand, W. Wertelecki, A. Schneider and W.R. Wilcox

    Version of Record online : 30 JUL 2013, DOI: 10.1111/cge.12230

  13. Genotype–phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II

    Clinical Genetics

    L. Dvorakova, H. Vlaskova, A. Sarajlija, D. P. Ramadza, H. Poupetova, E. Hruba, A. Hlavata, V. Bzduch, K. Peskova, G. Storkanova, B. Kecman, M. Djordjevic, I. Baric, K. Fumic, I. Barisic, M. Reboun, J. Kulhanek, J. Zeman and M. Magner

    Version of Record online : 17 MAR 2017, DOI: 10.1111/cge.12927

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

    Clinical Genetics

    Volume 91, Issue 3, March 2017, Pages: 411–425, 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

  15. 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

  16. Attitudinal concordance toward uptake and disclosure of genetic testing for cancer susceptibility in patient–family member dyads

    Clinical Genetics

    Volume 86, Issue 2, August 2014, Pages: 112–120, D.W. Shin, J. Cho, D.L. Roter, S.Y. Kim, Ji.H. Park, B. Cho, H.-S. Eom, J.-S. Chung, H.-K. Yang and Jo.-H. Park

    Version of Record online : 28 FEB 2014, DOI: 10.1111/cge.12343

  17. 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

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

    Clinical Genetics

    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

  19. 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

  20. 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