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Retinitis pigmentosa and allied conditions today: a paradigm of translational research
Monogenic human retinal dystrophies are a group of disorders characterized by progressive
loss of photoreceptor cells leading to visual handicap. Retinitis pigmentosa is a type of …
loss of photoreceptor cells leading to visual handicap. Retinitis pigmentosa is a type of …
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes
Retinal dystrophy (RD) is a heterogeneous group of hereditary diseases caused by loss of
photoreceptor function and contributes significantly to the etiology of blindness globally but …
photoreceptor function and contributes significantly to the etiology of blindness globally but …
Cas9/sgRNA selective targeting of the P23H Rhodopsin mutant allele for treating retinitis pigmentosa by intravitreal AAV9.PHP.B-based delivery
SG Giannelli, M Luoni, V Castoldi… - Human molecular …, 2018 - academic.oup.com
P23H is the most common mutation in the RHODOPSIN (RHO) gene leading to a dominant
form of retinitis pigmentosa (RP), a rod photoreceptor degeneration that invariably causes …
form of retinitis pigmentosa (RP), a rod photoreceptor degeneration that invariably causes …
[HTML][HTML] Molecular epidemiology in 591 Italian probands with nonsyndromic retinitis pigmentosa and usher syndrome
L Colombo, PE Maltese, M Castori… - … & Visual Science, 2021 - tvst.arvojournals.org
Purpose: To describe the molecular epidemiology of nonsyndromic retinitis pigmentosa (RP)
and Usher syndrome (US) in Italian patients. Methods: A total of 591 probands (315 with …
and Usher syndrome (US) in Italian patients. Methods: A total of 591 probands (315 with …
Macular abnormalities in Italian patients with retinitis pigmentosa
F Testa, S Rossi, R Colucci, B Gallo… - British Journal of …, 2014 - bjo.bmj.com
Aim To investigate the prevalence of macular abnormalities in a large Caucasian cohort of
patients affected by retinitis pigmentosa (RP). Methods A retrospective study was performed …
patients affected by retinitis pigmentosa (RP). Methods A retrospective study was performed …
Unravelling the genetic basis of simplex Retinitis Pigmentosa cases
N Bravo-Gil, M González-del Pozo… - Scientific reports, 2017 - nature.com
Retinitis Pigmentosa (RP) is the most common form of inherited retinal dystrophy (IRD)
characterized ultimately by photoreceptors degeneration. Exhibiting great clinical and …
characterized ultimately by photoreceptors degeneration. Exhibiting great clinical and …
Genomic landscape of sporadic retinitis pigmentosa: findings from 877 Spanish cases
I Martin-Merida, A Avila-Fernandez, M Del Pozo-Valero… - Ophthalmology, 2019 - Elsevier
Purpose We aimed to unravel the molecular basis of sporadic retinitis pigmentosa (sRP) in
the largest cohort reported to date. Design Case series. Participants A cohort of 877 …
the largest cohort reported to date. Design Case series. Participants A cohort of 877 …
Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genoty** microarray
A Ávila-Fernández, D Cantalapiedra, E Aller… - Molecular …, 2010 - pmc.ncbi.nlm.nih.gov
Purpose Retinitis pigmentosa (RP) is a genetically heterogeneous disorder characterized by
progressive loss of vision. The aim of this study was to identify the causative mutations in …
progressive loss of vision. The aim of this study was to identify the causative mutations in …
[HTML][HTML] Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa
M Martínez-Gimeno, MJ Gamundi… - … & visual science, 2003 - arvojournals.org
purpose. Mutations in the systemically expressed pre-mRNA splicing-factor genes PRPF3,
PRPF8, and PRPF31 have recently been associated with autosomal dominant retinitis …
PRPF8, and PRPF31 have recently been associated with autosomal dominant retinitis …