Retinitis Pigmentosa (Non-syndromic)

被引：46

作者：

Tsang, Stephen H. ^{[1
,2
,3
,4
,5
]}

Sharma, Tarun ^{[5
]}

机构：

[1] Columbia Univ, Dept Ophthalmol,Inst Human Nutr, Bernard & Shirlee Brown Glaucoma Lab,Jonas Childr, Columbia Stem Cell Initiat,Vagelos Coll Phys & Su, New York, NY 10027 USA

[2] Columbia Univ, Inst Human Nutr, Dept Biomed Engn, Vagelos Coll Phys & Surg, New York, NY 10032 USA

[3] Columbia Univ, Inst Human Nutr, Dept Pathol, Vagelos Coll Phys & Surg, New York, NY 10032 USA

[4] Columbia Univ, Inst Human Nutr, Dept Cell Biol, Vagelos Coll Phys & Surg, New York, NY 10032 USA

[5] Columbia Univ, Dept Ophthalmol, Edward S Harkness Eye Inst, NewYork Presbyterian Hosp, New York, NY 10027 USA

来源：

ATLAS OF INHERITED RETINAL DISEASES | 2018年 / 1085卷

关键词：

D O I：

10.1007/978-3-319-95046-4_25

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

引用

页码：125 / 130

页数：6

共 50 条

[1] Non-syndromic retinitis pigmentosa
Verbakel, Sanne K.
van Huet, Ramon A. C.
Boon, Camiel J. F.
den Hollander, Anneke I.
Collin, Rob W. J.
Klaver, Caroline C. W.
Hoyng, Carel B.
Roepman, Ronald
Klevering, B. Jeroen
PROGRESS IN RETINAL AND EYE RESEARCH, 2018, 66 : 157 - 186
[2] Genetic dissection of non-syndromic retinitis pigmentosa
Bhardwaj, Aarti
Yadav, Anshu
Yadav, Manoj
Tanwar, Mukesh
INDIAN JOURNAL OF OPHTHALMOLOGY, 2022, 70 (07) : 2355 - 2385
[3] Photoreceptor actin dysregulation in syndromic and non-syndromic retinitis pigmentosa
Megaw, Roly
Hurd, Toby W.
BIOCHEMICAL SOCIETY TRANSACTIONS, 2018, 46 : 1463 - 1473
[4] Mutation analysis of RHO in patients with non-syndromic retinitis pigmentosa
Zhuang, Jianfu
Zhang, Rongcai
Zhou, Biting
Cao, Zongfu
Zhou, Jie
Chen, Xiaole
Zhang, Nanwen
Zhu, Yihua
Yang, Juhua
OPHTHALMIC GENETICS, 2024, 45 (02) : 147 - 152
[5] Ocular function and macular pigment density in non-syndromic retinitis pigmentosa
Pawlyk, BS
Lee, H
Wooten, BR
Berson, EL
Sandberg, MA
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2002, 43 : U276 - U276
[6] Mutations in MVK cause non-syndromic autosomal recessive retinitis pigmentosa
Siemiatkowska, Anna
Stoffels, Monique
Neveling, Kornelia
Simon, Anna
van Hagen, Martin
Den Hollander, Anneke
Cremers, Frans
van den Born, L.
Collin, Rob
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2013, 54 (15)
[7] Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa
Xu, Mingchu
Yamada, Takeyuki
Sun, Zixi
Eblimit, Aiden
Lopez, Irma
Wang, Feng
Manya, Hiroshi
Xu, Shan
Zhao, Li
Li, Yumei
Kimchi, Adva
Sharon, Dror
Sui, Ruifang
Endo, Tamao
Koenekoop, Robert K.
Chen, Rui
HUMAN MOLECULAR GENETICS, 2016, 25 (08) : 1479 - 1488
[8] BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa
Fadaie, Zeinab
Whelan, Laura
Dockery, Adrian
Li, Catherina H. Z.
van der Born, L. Ingeborgh
Hoyng, Carel B.
Gilissen, Christian
Corominas, Jordi
Rowlands, Charlie
Megaw, Roly
Lampe, Anne K.
Cremers, Frans P. M.
Farrar, Gwyneth Jane
Ellingford, Jamie M.
Kenna, Paul F.
Roosing, Susanne
JOURNAL OF MEDICAL GENETICS, 2022, 59 (05) : 438 - 444
[9] Molecular Genetic Analysis of the Autosomal Recessive Non-Syndromic Inherited Retinitis Pigmentosa
Habib, Faiza
Yasin, Muhammad
Namal, Areej
Shaheryar, Abrar
Nasir, Areej
Hussain, Abrar
Ndubuisi, Chinonso
Azam, Hiba
Sajid, Muhammad
Rasheed, Arsalan
CUREUS JOURNAL OF MEDICAL SCIENCE, 2023, 15 (04)
[10] THE MODE OF INHERITANCE OF NON-SYNDROMIC RETINITIS PIGMENTOSA PATIENTS IN METROPOLITAN SYDNEY REGION
Chen, Tony Shang-Chuan
Grigg, John
Jamieson, Robyn
McCluskey, Peter
CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, 2013, 41 : 100 - 100

← 1 2 3 4 5 →