Found: 6

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  • A homozygous mutation in LTBP2 causes isolated microspherophakia.

    Published in:
    Human Genetics, 2010, v. 128, n. 4, p. 365, doi. 10.1007/s00439-010-0858-8
    By:
    • Kumar, Arun;
    • Duvvari, Maheswara R.;
    • Prabhakaran, Venkatesh C.;
    • Shetty, Jyoti S.;
    • Murthy, Gowri J.;
    • Blanton, Susan H.
    Publication type:
    Article

  • A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration.

    Published in:
    Nature Genetics, 2013, v. 45, n. 11, p. 1371, doi. 10.1038/ng.2740
    By:
    • Helgason, Hannes;
    • Sulem, Patrick;
    • Duvvari, Maheswara R;
    • Luo, Hongrong;
    • Thorleifsson, Gudmar;
    • Stefansson, Hreinn;
    • Jonsdottir, Ingileif;
    • Masson, Gisli;
    • Gudbjartsson, Daniel F;
    • Walters, G Bragi;
    • Magnusson, Olafur Th;
    • Kong, Augustine;
    • Rafnar, Thorunn;
    • Kiemeney, Lambertus A;
    • Schoenmaker-Koller, Frederieke E;
    • Zhao, Ling;
    • Boon, Camiel J F;
    • Song, Yaojun;
    • Fauser, Sascha;
    • Pei, Michelle
    Publication type:
    Article

  • A functional variant in the CFI gene confers a high risk of age-related macular degeneration.

    Published in:
    Nature Genetics, 2013, v. 45, n. 7, p. 813, doi. 10.1038/ng.2640
    By:
    • van de Ven, Johannes P H;
    • Nilsson, Sara C;
    • Tan, Perciliz L;
    • Buitendijk, Gabriëlle H S;
    • Ristau, Tina;
    • Mohlin, Frida C;
    • Nabuurs, Sander B;
    • Schoenmaker-Koller, Frederieke E;
    • Smailhodzic, Dzenita;
    • Campochiaro, Peter A;
    • Zack, Donald J;
    • Duvvari, Maheswara R;
    • Bakker, Bjorn;
    • Paun, Codrut C;
    • Boon, Camiel J F;
    • Uitterlinden, Andre G;
    • Liakopoulos, Sandra;
    • Klevering, B Jeroen;
    • Fauser, Sascha;
    • Daha, Mohamed R
    Publication type:
    Article

  • Analysis of Rare Variants in the <i>C3</i> Gene in Patients with Age-Related Macular Degeneration.

    Published in:
    PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0094165
    By:
    • Duvvari, Maheswara R.;
    • Paun, Codrut C.;
    • Buitendijk, Gabriëlle H. S.;
    • Saksens, Nicole T. M.;
    • Volokhina, Elena B.;
    • Ristau, Tina;
    • Schoenmaker-Koller, Frederieke E.;
    • van de Ven, Johannes P. H.;
    • Groenewoud, Joannes M. M.;
    • van den Heuvel, Lambertus P. W. J.;
    • Hofman, Albert;
    • Fauser, Sascha;
    • Uitterlinden, André G.;
    • Klaver, Caroline C. W.;
    • Hoyng, Carel B.;
    • de Jong, Eiko K.;
    • den Hollander, Anneke I.
    Publication type:
    Article

  • Exome sequencing and functional studies in zebrafish identify WDR8 as the causative gene for isolated Microspherophakia in Indian families.

    Published in:
    Human Molecular Genetics, 2021, v. 30, n. 6, p. 467, doi. 10.1093/hmg/ddab061
    By:
    • Madhangi, M;
    • Dutta, Debanjan;
    • Show, Sautan;
    • Bhat, Vishwanath K;
    • Rather, Mohammad I;
    • Tiwari, Ankana;
    • Singh, Nivedita;
    • Duvvari, Maheswara R;
    • Murthy, Gowri J;
    • Kumar, Arun;
    • Nongthomba, Upendra
    Publication type:
    Article

  • Whole Exome Sequencing in Patients with the Cuticular Drusen Subtype of Age-Related Macular Degeneration.

    Published in:
    PLoS ONE, 2016, v. 11, n. 3, p. 1, doi. 10.1371/journal.pone.0152047
    By:
    • Duvvari, Maheswara R.;
    • van de Ven, Johannes P. H.;
    • Geerlings, Maartje J.;
    • Saksens, Nicole T. M.;
    • Bakker, Bjorn;
    • Henkes, Arjen;
    • Neveling, Kornelia;
    • Rosario, Marisol del;
    • Westra, Dineke;
    • van den Heuvel, Lambertus P. W. J.;
    • Schick, Tina;
    • Fauser, Sascha;
    • Boon, Camiel J. F.;
    • Hoyng, Carel B.;
    • Jong, Eiko K. de;
    • Hollander, Anneke I. den
    Publication type:
    Article