Author Response: Genetic Testing and Clinical Characterization of Patients with Cone-Rod Dystrophy

被引：0
|
作者：
Littink, Karin W. [1 ,2 ]
Koenekoop, Robert K. [5 ]
van den Born, L. Ingeborgh [1 ]
Cremers, Frans P. M. [2 ,3 ]
den Hollander, Anneke I. [2 ,4 ]
机构：
[1] Rotterdam Eye Hosp, Rotterdam, Netherlands
[2] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands
[3] Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mol Life Sci, NL-6525 ED Nijmegen, Netherlands
[4] Radboud Univ Nijmegen, Med Ctr, Dept Ophthalmol, NL-6525 ED Nijmegen, Netherlands
[5] McGill Univ, Ctr Hlth, Montreal Childrens Hosp Res Inst, McGill Ocular Genet Lab, Montreal, PQ, Canada
来源：
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | 2010年 / 51卷 / 12期
关键词：
RETINITIS-PIGMENTOSA; MUTATIONS;
D O I：
10.1167/iovs.10-6565
中图分类号：
R77 [眼科学];
学科分类号：
100212 ;
摘要：
引用
收藏
页码：6905 / 6905
页数：1
相关论文
共 50 条
  • [1] Genetic Testing and Clinical Characterization of Patients with Cone-Rod Dystrophy
    Thiadens, Alberta A. H. J.
    Klaver, Caroline C. W.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2010, 51 (12) : 6904 - 6905
  • [2] Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy
    Johannes Birtel
    Tobias Eisenberger
    Martin Gliem
    Philipp L. Müller
    Philipp Herrmann
    Christian Betz
    Diana Zahnleiter
    Christine Neuhaus
    Steffen Lenzner
    Frank G. Holz
    Elisabeth Mangold
    Hanno J. Bolz
    Peter Charbel Issa
    Scientific Reports, 8
  • [3] Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy
    Birtel, Johannes
    Eisenberger, Tobias
    Gliem, Martin
    Mueller, Philipp L.
    Herrmann, Philipp
    Betz, Christian
    Zahnleiter, Diana
    Neuhaus, Christine
    Lenzner, Steffen
    Holz, Frank G.
    Mangold, Elisabeth
    Bolz, Hanno J.
    Issa, Peter Charbel
    SCIENTIFIC REPORTS, 2018, 8
  • [4] CONE-ROD DYSTROPHY - SUBTYPING BY CLINICAL CHARACTERISTICS AND FUNCTIONAL TESTING
    SZLYK, JP
    FISHMAN, GA
    DERLACKI, DJ
    PEACHEY, NS
    ALEXANDER, KR
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 1991, 32 (04) : 1144 - 1144
  • [5] CLINICAL SUBTYPES OF CONE-ROD DYSTROPHY
    SZLYK, JP
    FISHMAN, GA
    ALEXANDER, KR
    PEACHEY, NS
    DERLACKI, DJ
    ARCHIVES OF OPHTHALMOLOGY, 1993, 111 (06) : 781 - 788
  • [6] Clinical Course, Genetic Etiology, and Visual Outcome in Cone and Cone-Rod Dystrophy
    Thiadens, Alberta A. H. J.
    Phan, T. My Lan
    Zekveld-Vroon, Renate C.
    Leroy, Bart P.
    van den Born, L. Ingeborgh
    Hoyng, Carel B.
    Klaver, Caroline C. W.
    Roosing, Susanne
    Pott, Jan-Willem R.
    van Schooneveld, Mary J.
    van Moll-Ramirez, Norka
    van Genderen, Maria M.
    Boon, Camiel J. F.
    den Hollander, Anneke I.
    Bergen, Arthur A. B.
    De Baere, Elfride
    Cremers, Frans P. M.
    Lotery, Andrew J.
    OPHTHALMOLOGY, 2012, 119 (04) : 819 - 826
  • [7] Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy
    Falsini, Benedetto
    Placidi, Giorgio
    De Siena, Elisa
    Chiurazzi, Pietro
    Minnella, Angelo Maria
    Savastano, Maria Cristina
    Ziccardi, Lucia
    Parisi, Vincenzo
    Iarossi, Giancarlo
    Percio, Marcella
    Pitekova, Barbora
    Marceddu, Giuseppe
    Maltese, Paolo Enrico
    Bertelli, Matteo
    SCIENTIFIC REPORTS, 2022, 12 (01):
  • [8] A Comprehensive Genetic Screen of Patients With Autosomal Dominant Cone and Cone-Rod Dystrophy
    Kohl, S.
    Kitiratschky, V. B. D.
    Wissinger, B.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2010, 51 (13)
  • [9] Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy
    Benedetto Falsini
    Giorgio Placidi
    Elisa De Siena
    Pietro Chiurazzi
    Angelo Maria Minnella
    Maria Cristina Savastano
    Lucia Ziccardi
    Vincenzo Parisi
    Giancarlo Iarossi
    Marcella Percio
    Barbora Piteková
    Giuseppe Marceddu
    Paolo Enrico Maltese
    Matteo Bertelli
    Scientific Reports, 12 (1)
  • [10] CONE-ROD DYSTROPHY - A CLINICAL AND HISTOPATHOLOGIC REPORT
    RABB, MF
    TSO, MOM
    FISHMAN, GA
    OPHTHALMOLOGY, 1986, 93 (11) : 1443 - 1451
12345