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There are 14869 results for: content related to: Novel and recurrent NDP gene mutations in familial cases of Norrie disease and X-linked exudative vitreoretinopathy

  1. Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity

    Clinical & Experimental Ophthalmology

    Volume 34, Issue 7, September/October 2006, Pages: 682–688, Joanne L Dickinson, Michèle M Sale, Abraham Passmore, Liesel M FitzGerald, Catherine M Wheatley, Kathryn P Burdon, Jamie E Craig, Supaporn Tengtrisorn, Susan M Carden, Hector Maclean and David A Mackey

    Version of Record online : 13 SEP 2006, DOI: 10.1111/j.1442-9071.2006.01314.x

  2. Norrie disease: Extraocular clinical manifestations in 56 patients

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 8, August 2012, Pages: 1909–1917, Sharon E. Smith, Thomas E. Mullen, Dionne Graham, Katherine B. Sims and Heidi L. Rehm

    Version of Record online : 11 JUL 2012, DOI: 10.1002/ajmg.a.35469

  3. A novel c.240_241insGG mutation in NDP gene in a family with Norrie disease

    Clinical and Experimental Optometry

    Monavvar Andarva, Javad Jamshidi, Hamid Ghaedi, Narsis Daftarian, Babak Emamalizadeh, Elham Alehabib, Shaghyegh Taghavi, Ramin Pouriran and Hossein Darvish

    Version of Record online : 18 SEP 2017, DOI: 10.1111/cxo.12599

  4. A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 9, 1 May 2007, Pages: 921–924, Dorit Lev, Yuval Weigl, Mariana Hasan, Eva Gak, Michael Davidovich, Chana Vinkler, Esther Leshinsky-Silver, Tally Lerman-Sagie and Nathan Watemberg

    Version of Record online : 2 MAR 2007, DOI: 10.1002/ajmg.a.31531

  5. Vascular changes in the cerebellum of Norrin /Ndph knockout mice correlate with high expression of Norrin and Frizzled-4

    European Journal of Neuroscience

    Volume 27, Issue 10, May 2008, Pages: 2619–2628, Ulrich F. O. Luhmann, John Neidhardt, Barbara Kloeckener-Gruissem, Nikolaus F. Schäfer, Esther Glaus, Silke Feil and Wolfgang Berger

    Version of Record online : 28 JUN 2008, DOI: 10.1111/j.1460-9568.2008.06237.x

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    Non-conventional Frizzled ligands and Wnt receptors

    Development, Growth & Differentiation

    Volume 50, Issue 4, May 2008, Pages: 229–243, Marijke Hendrickx and Luc Leyns

    Version of Record online : 25 MAR 2008, DOI: 10.1111/j.1440-169X.2008.01016.x

  7. You have free access to this content
    Molecular analysis of the NDP gene in two families with Norrie disease

    Acta Ophthalmologica Scandinavica

    Volume 83, Issue 2, April 2005, Pages: 210–214, M Refugio Rivera-Vega, Silvet Chiñas-Lopez, Ana Luisa Jimenez Vaca, M Luz Arenas-Sordo, Susana Kofman-Alfaro, Olga Messina-Baas and Sergio Alberto Cuevas-Covarrubias

    Version of Record online : 30 MAR 2005, DOI: 10.1111/j.1600-0420.2005.00398.x

  8. Novel mutation in TSPAN12 leads to autosomal recessive inheritance of congenital vitreoretinal disease with intra-familial phenotypic variability

    American Journal of Medical Genetics Part A

    Volume 164, Issue 12, December 2014, Pages: 2996–3002, Moran Gal, Erez Y. Levanon, Yasir Hujeirat, Morad Khayat, Jacob Pe'er and Stavit Shalev

    Version of Record online : 22 SEP 2014, DOI: 10.1002/ajmg.a.36739

  9. Two Thai families with Norrie disease (ND): Association of two novel missense mutations with severe ND phenotype, seizures, and a manifesting carrier

    American Journal of Medical Genetics

    Volume 100, Issue 1, 15 April 2001, Pages: 52–55, Koki Yamada, Pornprot Limprasert, Mansing Ratanasukon, Supaporn Tengtrisorn, Juthamanee Yingchareonpukdee, Punnee Vasiknanonte, Takashi Kitaoka, Mohsen Ghadami, Norio Niikawa and Tatsuya Kishino

    Version of Record online : 18 APR 2001, DOI: 10.1002/1096-8628(20010415)100:1<52::AID-AJMG1214>3.0.CO;2-B

  10. Contiguous deletion of the NDP, MAOA, MAOB, and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 9, 1 May 2007, Pages: 916–920, L. Rodriguez-Revenga, I. Madrigal, L.S. Alkhalidi, L. Armengol, E. González, C. Badenas, X. Estivill and M. Milà

    Version of Record online : 12 APR 2007, DOI: 10.1002/ajmg.a.31521

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    Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP

    Human Mutation

    Volume 31, Issue 6, June 2010, Pages: 656–666, Konstantinos Nikopoulos, Hanka Venselaar, Rob W.J. Collin, Rosa Riveiro-Alvarez, F. Nienke Boonstra, Johanna M.M. Hooymans, Arijit Mukhopadhyay, Deborah Shears, Marleen van Bers, Ilse J. de Wijs, Anthonie J. van Essen, Rolf H. Sijmons, Mauk A.D. Tilanus, C. Erik van Nouhuys, Carmen Ayuso, Lies H. Hoefsloot and Frans P.M. Cremers

    Version of Record online : 25 MAR 2010, DOI: 10.1002/humu.21250

  12. Persistent hyperplastic primary vitreous: congenital malformation of the eye

    Clinical & Experimental Ophthalmology

    Volume 37, Issue 9, December 2009, Pages: 884–890, Barkur S Shastry

    Version of Record online : 18 SEP 2009, DOI: 10.1111/j.1442-9071.2009.02150.x

  13. Genetic variants of frizzled-4 gene in familial exudative vitreoretinopathy and advanced retinopathy of prematurity

    Clinical Genetics

    Volume 67, Issue 4, April 2005, Pages: 363–366, MLE MacDonald, YP Goldberg, J MacFarlane, ME Samuels, MT Trese and BS Shastry

    Version of Record online : 8 FEB 2005, DOI: 10.1111/j.1399-0004.2005.00408.x

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    Norrin immunolocalization and its possible functions in rat endometrium during the estrus cycle and early pregnancy

    Development, Growth & Differentiation

    Volume 53, Issue 7, September 2011, Pages: 887–896, Celal Kaloglu, Ismet Cesur and Huseyin E. Bulut

    Version of Record online : 7 SEP 2011, DOI: 10.1111/j.1440-169X.2011.01295.x

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    Fetal loss in homozygous mutant Norrie disease mice: A new role of Norrin in reproduction

    genesis

    Volume 42, Issue 4, August 2005, Pages: 253–262, Ulrich F.O. Luhmann, Dominique Meunier, Wei Shi, Angela Lüttges, Christiane Pfarrer, Reinald Fundele and Wolfgang Berger

    Version of Record online : 20 JUL 2005, DOI: 10.1002/gene.20141

  16. Mutations in the Norrie disease gene

    Human Mutation

    Volume 5, Issue 4, 1995, Pages: 285–292, Deborah E. Schuback, Zheng Yi Chen, Ian W. Craig, Xandra O. Breakefield and Katherine B. Sims

    Version of Record online : 1 JUN 2005, DOI: 10.1002/humu.1380050403

  17. Norrie disease gene mutation in a large Costa Rican kindred with a novel phenotype including venous insufficiency

    Human Mutation

    Volume 9, Issue 5, 1997, Pages: 402–408, Heidi L. Rehm, Gustavo A. Gutiérrez-Espeleta, Rafael Garcia, Gerardo Jiménez, Umang Khetarpal, Janice M. Priest, Katherine B. Sims, Bronya J. B. Keats and Cynthia C. Morton

    Version of Record online : 7 JAN 1999, DOI: 10.1002/(SICI)1098-1004(1997)9:5<402::AID-HUMU4>3.0.CO;2-5

  18. Performance of 4D-Var NWP-based nowcasting of precipitation at the Met Office for summer 2012

    Quarterly Journal of the Royal Meteorological Society

    Volume 142, Issue 694, January 2016 Part A, Pages: 472–487, Susan P. Ballard, Zhihong Li, David Simonin and Jean-Francois Caron

    Version of Record online : 29 NOV 2015, DOI: 10.1002/qj.2665

  19. Two new missense mutations (A105T and C110G) in the Norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy

    American Journal of Medical Genetics

    Volume 72, Issue 2, 17 October 1997, Pages: 242–244, Isabella Torrente, Massimo Mangino, Massimo Gennarelli, Giuseppe Novelli, Aldo Giannotti, Pasquale Vadalà and Bruno Dallapiccola

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19971017)72:2<242::AID-AJMG23>3.0.CO;2-M

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    Nucleotide affinity for a stable phosphorylated intermediate of nucleoside diphosphate kinase

    Protein Science

    Volume 11, Issue 7, July 2002, Pages: 1648–1656, Benoit Schneider, Ameli Norda, Anna Karlsson, Michel Veron and Dominique Deville-Bonne

    Version of Record online : 13 APR 2009, DOI: 10.1110/ps.0204702