Search Results

There are 2538007 results for: content related to: Familial intellectual disability in an Iranian family with a novel truncating mutation in CEP290

  1. 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

  2. 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

  3. Molecular cytogenetics: recent developments and applications in cancer

    Clinical Genetics

    Volume 84, Issue 4, October 2013, Pages: 315–325, K Das and P Tan

    Version of Record online : 6 AUG 2013, DOI: 10.1111/cge.12229

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

    Clinical Genetics

    Volume 92, Issue 3, September 2017, Pages: 243–258, 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. 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

  6. Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2

    Clinical Genetics

    Volume 86, Issue 4, October 2014, Pages: 342–348, T. Takayama, N. Takaoka, M. Nagata, K. Johnin, Y. Okada, S. Tanaka, M. Kawamura, T. Inokuchi, M. Ohse, T. Kuhara, F. Tanioka, H. Yamada, H. Sugimura and S. Ozono

    Version of Record online : 5 NOV 2013, DOI: 10.1111/cge.12292

  7. A review of craniofacial disorders caused by spliceosomal defects

    Clinical Genetics

    Volume 88, Issue 5, November 2015, Pages: 405–415, D. Lehalle, D. Wieczorek, R.M. Zechi-Ceide, M.R. Passos-Bueno, S. Lyonnet, J. Amiel and C.T. Gordon

    Version of Record online : 1 MAY 2015, DOI: 10.1111/cge.12596

  8. Characterization of a novel founder MSH6 mutation causing Lynch syndrome in the French Canadian population

    Clinical Genetics

    Volume 87, Issue 6, June 2015, Pages: 536–542, E. Castellsagué, J. Liu, A. Volenik, S. Giroux, R. Gagné, B. Maranda, A. Roussel-Jobin, J. Latreille, R. Laframboise, L. Palma, L. Kasprzak, V.A. Marcus, M. Breguet, S. Nolet, Z. El-Haffaf, K. Australie, A. Gologan, O. Aleynikova, K. Oros-Klein, C. Greenwood, A.M. Mes-Masson, D. Provencher, M. Tischkowitz, G. Chong, F. Rousseau and W.D. Foulkes

    Version of Record online : 22 NOV 2014, DOI: 10.1111/cge.12526

  9. Autosomal recessive cystinuria caused by genome-wide paternal uniparental isodisomy in a patient with Beckwith–Wiedemann syndrome

    Clinical Genetics

    Volume 88, Issue 3, September 2015, Pages: 261–266, Y. Ohtsuka, K. Higashimoto, K. Sasaki, K. Jozaki, H. Yoshinaga, N. Okamoto, Y. Takama, A. Kubota, M. Nakayama, H. Yatsuki, K. Nishioka, K. Joh, T. Mukai, K.-i. Yoshiura and H. Soejima

    Version of Record online : 8 NOV 2014, DOI: 10.1111/cge.12496

  10. 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

  11. 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

  12. 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

  13. 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

  14. 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

  15. 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

  16. 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

  17. 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

  18. The inheritance of juvenile onset primary open angle glaucoma

    Clinical Genetics

    Volume 92, Issue 2, August 2017, Pages: 134–142, V. Gupta, B.I. Somarajan, S. Gupta, A.K. Chaurasia, S. Kumar, P. Dutta, V. Gupta, A. Sharma, B.O. Tayo and K. Nischal

    Version of Record online : 16 FEB 2017, DOI: 10.1111/cge.12906

  19. PAX9 gene mutations and tooth agenesis: A review

    Clinical Genetics

    Volume 92, Issue 5, November 2017, Pages: 467–476, O. Bonczek, V.J. Balcar and O. Šerý

    Version of Record online : 30 MAR 2017, DOI: 10.1111/cge.12986

  20. Deleterious protein-altering mutations in the SCN10A voltage-gated sodium channel gene are associated with prolonged QT

    Clinical Genetics

    M.D. Abou Ziki, S.B. Seidelmann, E. Smith, G. Atteya, Y. Jiang, R.G. Fernandes, M.A. Marieb, J.G. Akar and A. Mani

    Version of Record online : 18 MAY 2017, DOI: 10.1111/cge.13036