| 1 |
A c.544_618del75bp mutation in the splicing factor gene PRPF31 is involved in non-syndromic retinitis pigmentosa by reducing the level of mRNA expression.
61
|
Yang D...He Y
|
32031697 |
2020 |
| 2 |
Identification of 13 novel USH2A mutations in Chinese retinitis pigmentosa and Usher syndrome patients by targeted next-generation sequencing.
61
|
Qu LH...Yin ZQ
|
31904091 |
2020 |
| 3 |
Novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa.
61
|
Oh JK...Tsang SH
|
31856884 |
2019 |
| 4 |
Dominant ARL3-related retinitis pigmentosa.
61
|
Holtan JP...Houge G
|
30932721 |
2019 |
| 5 |
Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy.
61
|
Mejecase C...Audo I
|
30267408 |
2019 |
| 6 |
Stem Cell Ophthalmology Treatment Study (SCOTS): bone marrow derived stem cells in the treatment of Usher syndrome.
61
|
Weiss JN...Levy S
|
31620478 |
2019 |
| 7 |
Generation of an iPSC line, INMi001-A, carrying the two most common USH2A mutations from a compound heterozygote with non-syndromic retinitis pigmentosa.
61
|
Sanjurjo-Soriano C...Kalatzis V
|
30453153 |
2018 |
| 8 |
Photoreceptor actin dysregulation in syndromic and non-syndromic retinitis pigmentosa.
61
|
Megaw R...Hurd TW
|
30464047 |
2018 |
| 9 |
Relative frequency of inherited retinal dystrophies in Brazil.
61
|
Motta FL...Sallum JMF
|
30374144 |
2018 |
| 10 |
Non-syndromic retinitis pigmentosa.
61
|
Verbakel SK...Klevering BJ
|
29597005 |
2018 |
| 11 |
Generation of an induced pluripotent stem cell line from a patient with non-syndromic CLN3-associated retinal degeneration and a coisogenic control line.
61
|
Zhang X...McLenachan S
|
29753273 |
2018 |
| 12 |
A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia.
61
|
Yusuf IH...MacLaren RE
|
29192808 |
2018 |
| 13 |
Autosomal Dominant Retinitis Pigmentosa.
61
|
Tsang SH...Sharma T
|
30578488 |
2018 |
| 14 |
Retinitis pigmentosa genes implicated in South Asian populations: a systematic review.
61
|
Zafar S...Baig R
|
29171570 |
2017 |
| 15 |
Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa.
61
|
Nguyen TT...Haer-Wigman L
|
28442542 |
2017 |
| 16 |
Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye.
61
|
Weihbrecht K...Sheffield VC
|
29457131 |
2017 |
| 17 |
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.
61
|
Xu M...Schorderet DF
|
28285769 |
2017 |
| 18 |
Possible protective role of the ABCA4 gene c.1268A>G missense variant in Stargardt disease and syndromic retinitis pigmentosa in a Sicilian family: Preliminary data.
61
|
D'Angelo R...Sidoti A
|
28290600 |
2017 |
| 19 |
Retinal Structure Measurements as Inclusion Criteria for Stem Cell-Based Therapies of Retinal Degenerations.
61
|
Jacobson SG...Cideciyan AV
|
27116670 |
2016 |
| 20 |
Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.
61
|
Xu M...Chen R
|
26908613 |
2016 |
| 21 |
[Genotype-phenotype correlation in ten Tunisian families with non-syndromic retinitis pigmentosa].
61
|
Chebil A...El Matri L
|
26868535 |
2016 |
| 22 |
ADIPOR1 Is Mutated in Syndromic Retinitis Pigmentosa.
61
|
Xu M...Chen R
|
26662040 |
2016 |
| 23 |
Alternative Isoform Analysis of Ttc8 Expression in the Rat Pineal Gland Using a Multi-Platform Sequencing Approach Reveals Neural Regulation.
61
|
Hartley SW...Coon SL
|
27684375 |
2016 |
| 24 |
Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).
61
|
Haer-Wigman L...Ben-Yosef T
|
25859010 |
2015 |
| 25 |
The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.
61
|
Garcia-Cazorla A...Saudubray JM
|
25413954 |
2015 |
| 26 |
Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations.
61
|
Pierrottet CO...Bertelli M
|
25366773 |
2014 |
| 27 |
Prenylation defects in inherited retinal diseases.
61
|
Roosing S...Siemiatkowska AM
|
24401286 |
2014 |
| 28 |
The mitotic spindle protein SPAG5/Astrin connects to the Usher protein network postmitotically.
61
|
Kersten FF...Kremer H
|
23351521 |
2012 |
| 29 |
Therapeutic challenges to retinitis pigmentosa: from neuroprotection to gene therapy.
61
|
Sahni JN...Parmeggiani F
|
22131873 |
2011 |
| 30 |
Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.
61
|
McGee TL...Berson EL
|
20507924 |
2010 |
| 31 |
Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping.
61
|
Abu Safieh L...Alkuraya FS
|
19858128 |
2010 |
| 32 |
UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes.
61
|
Baux D...Roux AF
|
18484607 |
2008 |
| 33 |
Syndromic retinitis pigmentosa: ERG and phenotypic changes.
61
|
Fleischhauer J...Niemeyer G
|
15785977 |
2005 |
| 34 |
Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation.
61
|
Santorelli FM...DiMauro S
|
9222207 |
1997 |
| 35 |
The ocular phenotype of the Bardet-Biedl syndrome. Comparison to non-syndromic retinitis pigmentosa.
61
|
Iannaccone A...Pannarale MR
|
9134546 |
1997 |
| 36 |
Electroretinographic alterations in the Laurence-Moon-Bardet-Biedl phenotype.
61
|
Iannaccone A...Pannarale MR
|
8689489 |
1996 |
Rare eye diseases 