Autosomal Recessive Bestrophinopathy (ARB): a novel retinal disorder associated with null mutations in BEST1

被引：0

作者：

Manson, Forbes ^{[1
]}

Burgess, R. ^{[1
]}

Millar, I. D. ^{[2
]}

Leroy, B. P. ^{[3
]}

Fearon, I. M. ^{[2
]}

Brown, P. D. ^{[2
]}

Holder, G. E. ^{[4
]}

Webster, A. R. ^{[4
]}

Black, G. C. M. ^{[5
,6
]}

机构：

[1] Univ Manchester, Ctr Mol Med, Manchester M13 9PL, Lancs, England

[2] Univ Manchester, Fac Life Sci, Manchester M13 9PL, Lancs, England

[3] Ghent Univ Hosp, Dept Ophthalmol, B-9000 Ghent, Belgium

[4] St Marys Hosp, Acad Unit Med Genet, Manchester, Lancs, England

[5] St Marys Hosp, Acad Unit Med Genet, Manchester, Lancs, England

[6] St Marys Hosp, Reg Genet Serv, Manchester, Lancs, England

来源：

JOURNAL OF MEDICAL GENETICS | 2008年 / 45卷

关键词：

D O I：

暂无

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：S24 / S24

页数：1

共 50 条

[1] NEW BEST1 MUTATIONS IN AUTOSOMAL RECESSIVE BESTROPHINOPATHY
Fung, Adrian T.
Yzer, Suzanne
Goldberg, Naomi
Wang, Hao
Nissen, Michael
Giovannini, Alfonso
Merriam, Joanna E.
Bukanova, Elena N.
Cai, Carolyn
Yannuzzi, Lawrence A.
Tsang, Stephen H.
Allikmets, Rando
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES, 2015, 35 (04): : 773 - 782
[2] A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy
Lee, Christopher Seungkyu
Jun, Ikhyun
Choi, Seung-il
Lee, Ji Hwan
Lee, Min Goo
Lee, Sung Chul
Kim, Eung Kweon
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2015, 56 (13) : 8141 - 8150
[3] Novel BEST1 mutations and clinical characteristics of autosomal recessive bestrophinopathy in a Spanish patient
Soto-Sierra, Marina
Morillo-Sanchez, Maria Jose
Martin-Sanchez, Marta
Ramos-Jimenez, Manuel
Lopez-Dominguez, Mireia
Ponte-Zuniga, Beatriz
Antinolo, Guillermo
Rodriguez-de-la-Rua, Enrique
EUROPEAN JOURNAL OF OPHTHALMOLOGY, 2022, 32 (05) : NP77 - NP81
[4] Biallelic Mutations in the BEST1 Gene: Additional Families with Autosomal Recessive Bestrophinopathy
Jansson, Ragnhild Wivestad
Berland, Siren
Bredrup, Cecilie
Austeng, Dordi
Andreasson, Sten
Wittstrom, Elisabeth
OPHTHALMIC GENETICS, 2016, 37 (02) : 183 - 193
[5] Novel BEST1 mutation in autosomal recessive bestrophinopathy in Japanese siblings
Yamada, Rika
Takagi, Rina
Iwamoto, Sadahiko
Shimada, Shoichi
Kakehashi, Akihiro
TAIWAN JOURNAL OF OPHTHALMOLOGY, 2021, 11 (01) : 71 - 76
[6] Phenotype in homozygous and heterozygous carriers of BEST1 mutations in autosomal recessive Bestrophinopathy
El Matri, K.
Falfoul, Y.
Habibi, I.
Turki, A.
Chebil, A.
Schorderet, D.
El Matri, L.
ACTA OPHTHALMOLOGICA, 2018, 96 : 35 - 35
[7] Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the BEST1 Gene
Hufendiek, Karsten
Hufendiek, Katerina
Jaegle, Herbert
Stoehr, Heidi
Book, Marius
Spital, Georg
Rustambayova, Guenay
Framme, Carsten
Weber, Bernhard H. F.
Renner, Agnes B.
Kellner, Ulrich
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2020, 21 (24) : 1 - 18
[8] Novel BEST1 mutations and special clinical characteristics of autosomal recessive bestrophinopathy in Chinese patients
Luo, Jingyi
Lin, Mingkai
Guo, Xinxing
Xiao, Xueshan
Li, Jiali
Hu, Huan
Xiao, Hui
Xu, Xiaoyu
Zhong, Yimin
Long, Shixian
Luo, Guangwei
Mi, Lan
Chen, Xiangxi
Fang, Lei
Wei, Wei
Zhang, Qingjiong
Liu, Xing
ACTA OPHTHALMOLOGICA, 2019, 97 (03) : 247 - 259
[9] Autosomal recessive bestrophinopathy associated with compound heterozygous variants in the BEST1 gene
Hemptinne, Coralie
Willermain, Francois
de Jong, Casper
Postolache, Lavinia
Postelmans, Laurence
OPHTHALMIC GENETICS, 2023, 44 (03) : 318 - 320
[10] Identification of 5 novel mutations causing autosomal recessive bestrophinopathy (ARB)
Shweikh, Yusrah
Davidson, A. E.
Miller, I.
Brown, P.
Webster, A. R.
Manson, F. D. C.
Black, G. C. M.
JOURNAL OF MEDICAL GENETICS, 2009, 46 : S43 - S43

← 1 2 3 4 5 →