Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2 (vol 125, pg 219, 2007)

被引：0
|
作者：
Kaiserman, Nadia
机构：
来源：
ARCHIVES OF OPHTHALMOLOGY | 2007年 / 125卷 / 08期
关键词：
D O I：
暂无
中图分类号：
R77 [眼科学];
学科分类号：
100212 ;
摘要：
引用
收藏
页码：1013 / 1013
页数：1
相关论文
共 50 条
  • [31] Usher Syndrome Type 2 in An Iranian Family: A Novel Founder Variation in The USH2A Gene
    Neissi, Mostafa
    Mohammadi-Asl, Javad
    Mohammadi-Asl, Misagh
    Roghani, Mojdeh
    Sheikh-Hosseini, Motahareh
    Al-Badran, Adnan Issa
    CELL JOURNAL, 2024, 26 (06) : 392 - 397
  • [32] Screening of 51 newly identified USH2A exons among patients with Usher syndrome type II and non-syndromic recessive retinitis pigmentosa
    Seyedahmadi, BJ
    Berson, EL
    Dryja, TP
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2005, 46
  • [33] USH3A mutations in patients with a prior diagnosis of Usher syndrome type 1, Usher syndrome type II, and nonsyndromic recessive retinitis pigmentosa
    Seyedahmadi, BJ
    Berson, EL
    Dryja, T
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2004, 45 : U509 - U509
  • [34] Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush
    Fakin, Ana
    Bonnet, Crystel
    Kurtenbach, Anne
    Mohand-Said, Saddek
    Zobor, Ditta
    Stingl, Katarina
    Testa, Francesco
    Simonelli, Francesca
    Sahel, Jose-Alain
    Audo, Isabelle
    Zrenner, Eberhart
    Hawlina, Marko
    Petit, Christine
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2021, 22 (19)
  • [35] QRX-421, an Antisense Oligonucleotide (AON) Targeting Mutations in Exon 13 of USH2A, Associated with Retinitis Pigmentosa in Usher Syndrome Type 2, is Effective in Skipping Exon 13 in the USH2A mRNA of Patients Fibroblasts and Patient Derived Optic Cups
    Adamson, Peter
    Chan, Heelam
    Turunen, Janne
    Miao, Jiayi
    de Vrieze, Erik
    Dona, Margo
    Albert, Silvia
    van Wijk, Erwin
    van Diepen, Hester
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2017, 58 (08)
  • [36] Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa
    Pierrache, Laurence H. M.
    Hartel, Bas P.
    van Wijk, Erwin
    Meester-Smoor, Magda A.
    Cremers, Frans P. M.
    de Baere, Elfride
    de Zaeytijd, Julie
    van Schooneveld, Mary J.
    Cremers, Cor W. R. J.
    Dagnelie, Gislin
    Hoyng, Carel B.
    Bergen, Arthur A.
    Leroy, Bart P.
    Pennings, Ronald J. E.
    van den Born, L. Ingeborgh
    Klaver, Caroline C. W.
    OPHTHALMOLOGY, 2016, 123 (05) : 1151 - 1160
  • [37] Exome sequencing identified five novel USH2A variants in Korean patients with retinitis pigmentosa
    Jung, SeungHee
    Park, Young Chan
    Lee, DongHee
    Kim, SiYeon
    Kim, Sang-Mo
    Kim, YoungJin
    Lee, DongHyun
    Hyun, JaeJoung
    Koh, InSong
    Lee, Jong-Young
    OPHTHALMIC GENETICS, 2023, 44 (02) : 163 - 170
  • [38] Genotype-phenotype correlations in patients with Usher syndrome type 2 harboring mutations in USH2A and ADGRV1
    Hawlina, Marko
    Fakin, Ana
    Bonnet, Crystel
    Kurtenbach, Anne
    Mohand-Said, Saddek
    Zobor, Ditta
    Jarc-Vidmar, Martina
    Stingl, Katarina
    Testa, Francesco
    Simonelli, Francesca
    Sahel, Jose Alain
    Audo, Isabelle S.
    Zrenner, Eberhart
    Petit, Christine
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2017, 58 (08)
  • [39] Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II
    Dai, Hanjun
    Zhang, Xiaohui
    Zhao, Xin
    Deng, Ting
    Dong, Bing
    Wang, Jingzhao
    Li, Yang
    MOLECULAR VISION, 2008, 14 (242-44): : 2067 - 2075
  • [40] Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations
    Nakanishi, Hiroshi
    Ohtsubo, Masafumi
    Iwasaki, Satoshi
    Hotta, Yoshihiro
    Usami, Shin-ichi
    Mizuta, Kunihiro
    Mineta, Hiroyuki
    Minoshima, Shinsei
    JOURNAL OF HUMAN GENETICS, 2011, 56 (07) : 484 - 490
12345