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There are 3784 results for: content related to: A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population

  1. Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families

    Clinical Genetics

    Volume 88, Issue 5, November 2015, Pages: 456–461, M.J. Nabais Sá, H. Storey, F. Flinter, M. Nagel, S. Sampaio, R. Castro, J.A. Araújo, M.A. Gaspar, C. Soares, A. Oliveira, A.C. Henriques, A.G. da Costa, C.P. Abreu, P. Ponce, R. Alves, L. Pinho, S.E. Silva, C.P. de Moura, L. Mendonça, F. Carvalho, M. Pestana, S. Alves, F. Carvalho and J.P. Oliveira

    Version of Record online : 10 NOV 2014, DOI: 10.1111/cge.12521

  2. Alport syndrome: impact of digenic inheritance in patients management

    Clinical Genetics

    C. Fallerini, M. Baldassarri, E. Trevisson, V. Morbidoni, A. La Manna, R. Lazzarin, A. Pasini, G. Barbano, A.R. Pinciaroli, G. Garosi, E. Frullanti, A.M. Pinto, M.A. Mencarelli, F. Mari, A. Renieri and F. Ariani

    Version of Record online : 22 FEB 2017, DOI: 10.1111/cge.12919

  3. Collagen type IV-related nephropathies in Portugal: pathogenic COL4A5 mutations and clinical characterization of 22 families

    Clinical Genetics

    Volume 88, Issue 5, November 2015, Pages: 462–467, M.J. Nabais Sá, S. Sampaio, A. Oliveira, S. Alves, C.P. Moura, S.E. Silva, R. Castro, J.A. Araújo, M. Rodrigues, F. Neves, J. Seabra, C. Soares, M.A. Gaspar, I. Tavares, L. Freitas, T.C. Sousa, A.C. Henriques, F.T. Costa, E. Morgado, F.T. Sousa, J.P. Sousa, A.G. da Costa, R. Filipe, J. Garrido, J. Montalban, P. Ponce, R. Alves, B. Faria, M.F. Carvalho, M. Pestana, F. Carvalho and J.P. Oliveira

    Version of Record online : 10 NOV 2014, DOI: 10.1111/cge.12522

  4. Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia

    Clinical Genetics

    Volume 86, Issue 5, November 2014, Pages: 475–481, B. Deml, L.M. Reis, M. Maheshwari, C. Griffis, D. Bick and E.V. Semina

    Version of Record online : 12 APR 2014, DOI: 10.1111/cge.12379

  5. 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

  6. Association of COL4A1 gene polymorphisms with cerebral palsy in a Chinese Han population

    Clinical Genetics

    Volume 90, Issue 2, August 2016, Pages: 149–155, D. Bi, H. Wang, Q. Shang, Y. Xu, F. Wang, M. Chen, C. Ma, Y. Sun, X. Zhao, C. Gao, L. Wang, C. Zhu and Q. Xing

    Version of Record online : 9 FEB 2016, DOI: 10.1111/cge.12723

  7. Efficient detection of alport syndrome COL4a5 mutations with multiplex genomic PCR-SSCP

    American Journal of Medical Genetics

    Volume 98, Issue 2, 15 January 2001, Pages: 148–160, David F. Barker, Joyce C. Denison, Curtis L. Atkin and Martin C. Gregory

    Version of Record online : 28 DEC 2000, DOI: 10.1002/1096-8628(20010115)98:2<148::AID-AJMG1024>3.0.CO;2-W

  8. Genotype–phenotype correlations in 17 Chinese patients with autosomal recessive Alport syndrome

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 9, September 2012, Pages: 2188–2193, Yanqin Zhang, Fang Wang, Jie Ding, Hongwen Zhang, Dan Zhao, Lixia Yu, Huijie Xiao, Yong Yao, Xuhui Zhong and Suxia Wang

    Version of Record online : 6 AUG 2012, DOI: 10.1002/ajmg.a.35528

  9. 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

  10. COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage

    Annals of Neurology

    Volume 71, Issue 4, April 2012, Pages: 470–477, Yi-Chinn Weng, Akshata Sonni, Cassandre Labelle-Dumais, Michelle de Leau, W. Berkeley Kauffman, Marion Jeanne, Alessandro Biffi, Steven M. Greenberg, Jonathan Rosand and Douglas B. Gould

    Version of Record online : 20 APR 2012, DOI: 10.1002/ana.22682

  11. Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects

    Clinical Genetics

    Volume 88, Issue 5, November 2015, Pages: 468–473, A.M. Slavotinek, S.T. Garcia, G. Chandratillake, T. Bardakjian, E. Ullah, D. Wu, K. Umeda, R. Lao, P.L.-F. Tang, E. Wan, L. Madireddy, S. Lyalina, B.A. Mendelsohn, S. Dugan, J. Tirch, R. Tischler, J. Harris, M.J. Clark, S. Chervitz, A. Patwardhan, J.M. West, P. Ursell, A. de Alba Campomanes, A. Schneider, P.-y. Kwok, S. Baranzini and R.O. Chen

    Version of Record online : 6 JAN 2015, DOI: 10.1111/cge.12543

  12. You have free access to this content
    Two genes, COL4A3 and COL4A4 coding for the human α3(IV) and α4(IV) collagen chains are arranged head-to-head on chromosome 2q36

    FEBS Letters

    Volume 424, Issue 1-2, March 06, 1998, Pages: 11–16, Ryusuke Momota, Manabu Sugimoto, Toshitaka Oohashi, Kazuteru Kigasawa, Hidekatsu Yoshioka and Yoshifumi Ninomiya

    Version of Record online : 17 MAR 1998, DOI: 10.1016/S0014-5793(98)00128-8

  13. Tumour necrosis factor-α drives Alport glomerulosclerosis in mice by promoting podocyte apoptosis

    The Journal of Pathology

    Volume 226, Issue 1, January 2012, Pages: 120–131, Mi Ryu, Shrikant R Mulay, Nicolai Miosge, Oliver Gross and Hans-Joachim Anders

    Version of Record online : 26 SEP 2011, DOI: 10.1002/path.2979

  14. Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly

    Annals of Neurology

    Volume 73, Issue 1, January 2013, Pages: 48–57, Yuriko Yoneda, Kazuhiro Haginoya, Mitsuhiro Kato, Hitoshi Osaka, Kenji Yokochi, Hiroshi Arai, Akiyoshi Kakita, Takamichi Yamamoto, Yoshiro Otsuki, Shin-ichi Shimizu, Takahito Wada, Norihisa Koyama, Yoichi Mino, Noriko Kondo, Satoru Takahashi, Shinichi Hirabayashi, Jun-ichi Takanashi, Akihisa Okumura, Toshiyuki Kumagai, Satori Hirai, Makoto Nabetani, Shinji Saitoh, Ayako Hattori, Mami Yamasaki, Akira Kumakura, Yoshinobu Sugo, Kiyomi Nishiyama, Satoko Miyatake, Yoshinori Tsurusaki, Hiroshi Doi, Noriko Miyake, Naomichi Matsumoto and Hirotomo Saitsu

    Version of Record online : 7 DEC 2012, DOI: 10.1002/ana.23736

  15. Plasma leakage through glomerular basement membrane ruptures triggers the proliferation of parietal epithelial cells and crescent formation in non-inflammatory glomerular injury

    The Journal of Pathology

    Volume 228, Issue 4, December 2012, Pages: 482–494, Mi Ryu, Adriana Migliorini, Nicolai Miosge, Oliver Gross, Stuart Shankland, Paul T Brinkkoetter, Henning Hagmann, Paola Romagnani, Helen Liapis and Hans-Joachim Anders

    Version of Record online : 26 JUL 2012, DOI: 10.1002/path.4046

  16. MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome

    Clinical Genetics

    Volume 74, Issue 6, December 2008, Pages: 522–530, JM Hertz, I Juncker and N Marcussen

    Version of Record online : 9 JUL 2008, DOI: 10.1111/j.1399-0004.2008.01051.x

  17. Gonadal mosaicism as a rare cause of autosomal recessive inheritance

    Clinical Genetics

    Volume 85, Issue 3, March 2014, Pages: 278–281, S. Anazi, E. Al-Sabban and F.S. Alkuraya

    Version of Record online : 22 APR 2013, DOI: 10.1111/cge.12156

  18. You have full text access to this Open Access content
    Characterization of the Genetic Basis for Autosomal Recessive Hereditary Nephropathy in the English Springer Spaniel

    Journal of Veterinary Internal Medicine

    Volume 26, Issue 2, March-April 2012, Pages: 294–301, K.L. Nowend, A.N. Starr-Moss, G.E. Lees, B.R. Berridge, F.J. Clubb, C.E. Kashtan, M.B. Nabity and K.E. Murphy

    Version of Record online : 28 FEB 2012, DOI: 10.1111/j.1939-1676.2012.00888.x

  19. A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts

    American Journal of Medical Genetics Part A

    Volume 170, Issue 4, April 2016, Pages: 1059–1063, Thuong T. Ha, Lynette G. Sadleir, Simone A. Mandelstam, Sarah J. Paterson, Ingrid E. Scheffer, Jozef Gecz and Mark A. Corbett

    Version of Record online : 28 DEC 2015, DOI: 10.1002/ajmg.a.37527

  20. Mutation detection of COL4An gene based on mRNA of peripheral blood lymphocytes and prenatal diagnosis of Alport syndrome in China

    Nephrology

    Volume 16, Issue 4, May 2011, Pages: 377–380, HONGWEN ZHANG, JIE DING, FANG WANG and DAN ZHAO

    Version of Record online : 25 APR 2011, DOI: 10.1111/j.1440-1797.2010.01438.x