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There are 118033 results for: content related to: Fetal intracerebral hemorrhage and COL4A1 mutation: promise and uncertainty

  1. 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

  2. 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

  3. 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

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

    Clinical Genetics

    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

  5. You have free access to this content
    Childhood presentation of COL4A1 mutations

    Developmental Medicine & Child Neurology

    Volume 54, Issue 6, June 2012, Pages: 569–574, SIDDHARTH SHAH, SIAN ELLARD, RACHEL KNEEN, MING LIM, NIGEL OSBORNE, JULIA RANKIN, NEIL STOODLEY, MARJO VAN DER KNAAP, ANDREA WHITNEY and PHILIP JARDINE

    Version of Record online : 16 JAN 2012, DOI: 10.1111/j.1469-8749.2011.04198.x

  6. You have free access to this content
    Prenatal genetic confirmation of a COL4A1 mutation presenting with sonographic fetal intracranial hemorrhage

    Ultrasound in Obstetrics & Gynecology

    Volume 39, Issue 6, June 2012, Pages: 726–727, K. D. Lichtenbelt, L. R. Pistorius, S. M. De Tollenaer, G. M. Mancini and L. S. De Vries

    Version of Record online : 9 MAY 2012, DOI: 10.1002/uog.11070

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    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

  8. 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

  9. The clinical spectrum of type IV collagen mutations

    Human Mutation

    Volume 9, Issue 6, 1997, Pages: 477–499, Henny H. Lemmink, Cornelis H. Schröder, Leo A. H. Monnens and Huber J. M. Smeets

    Version of Record online : 7 JAN 1999, DOI: 10.1002/(SICI)1098-1004(1997)9:6<477::AID-HUMU1>3.0.CO;2-#

  10. Intracerebral hemorrhage and COL4A1 and COL4A2 mutations, from fetal life into adulthood

    Annals of Neurology

    Volume 71, Issue 4, April 2012, Pages: 439–441, Linda S. de Vries and Grazia M. S. Mancini

    Version of Record online : 23 MAR 2012, DOI: 10.1002/ana.23544

  11. A novel mutation in COL4A1 gene: A possible cause of early postnatal cerebrovascular events

    American Journal of Medical Genetics Part A

    Volume 167, Issue 4, April 2015, Pages: 810–815, Alice Decio, Davide Tonduti, Anna Pichiecchio, Annalisa Vetro, Roberto Ciccone, Ivan Limongelli, Roberto Giorda, Lorella Caffi, Umberto Balottin, Orsetta Zuffardi and Simona Orcesi

    Version of Record online : 23 FEB 2015, DOI: 10.1002/ajmg.a.36907

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    Cooperative and competitive interactions of regulatory elements are involved in the control of divergent transcription of human Col4A1 and Col4A2 genes

    FEBS Letters

    Volume 405, Issue 1, March 17, 1997, Pages: 31–36, Reinhold Pollner, Cornelia Schmidt, Gudrun Fischer, Klaus Kühn and Ernst Pöschl

    Version of Record online : 7 NOV 1997, DOI: 10.1016/S0014-5793(97)00152-X

  13. Novel COL4A1 mutations associated with HANAC syndrome: A role for the triple helical CB3[IV] domain

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 10, October 2010, Pages: 2550–2555, Emmanuelle Plaisier, Zhiyong Chen, Florian Gekeler, Safa Benhassine, Karine Dahan, Béatrice Marro, Sonia Alamowitch, Michel Paques and Pierre Ronco

    Version of Record online : 3 SEP 2010, DOI: 10.1002/ajmg.a.33659

  14. Review: Molecular genetics and pathology of hereditary small vessel diseases of the brain

    Neuropathology and Applied Neurobiology

    Volume 37, Issue 1, February 2011, Pages: 94–113, Y. Yamamoto, L. Craggs, M. Baumann, H. Kalimo and R. N. Kalaria

    Version of Record online : 11 JAN 2011, DOI: 10.1111/j.1365-2990.2010.01147.x

  15. 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

  16. 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

  17. 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

  18. 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

  19. Novel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection

    Birth Defects Research Part A: Clinical and Molecular Teratology

    Volume 106, Issue 4, April 2016, Pages: 304–307, Robert Smigiel, Magdalena Cabala, Aleksandra Jakubiak, Hirofumi Kodera, Marek J. Sasiadek, Naomichi Matsumoto, Maria M. Sasiadek and Hirotomo Saitsu

    Version of Record online : 16 FEB 2016, DOI: 10.1002/bdra.23488

  20. COL4A1 mutation in Axenfeld–Rieger anomaly with leukoencephalopathy and stroke

    Annals of Neurology

    Volume 62, Issue 2, August 2007, Pages: 177–184, Igor Sibon, Isabelle Coupry, Patrice Menegon, Jean-Pierre Bouchet, Philippe Gorry, Ingrid Burgelin, Patrick Calvas, Isabelle Orignac, Vincent Dousset, Didier Lacombe, Jean-Marc Orgogozo, Benoît Arveiler and Cyril Goizet

    Version of Record online : 14 AUG 2007, DOI: 10.1002/ana.21191