Results 171 to 180 of about 15,997 (234)

Targeted long-read cDNA sequencing reveals novel splice-altering pathogenic variants causing retinal dystrophies. [PDF]

HGG Adv
Capasso D, Zeuli R, Arno G, Kwint M, Timmermans R, Ruiz-Ceja KA, Karali M, Simonelli F, Signorini S, Valente EM, Cremers FPM, Banfi S, Roosing S, Panneman DM, de Bruijn SE.   +14 more
europepmc   +1 more source

Near-Infrared Autofluorescence: Early Detection of Retinal Pigment Epithelial Alterations in Inherited Retinal Dystrophies. [PDF]

J Clin Med
Kellner S, Weinitz S, Farmand G, Kellner U.   +3 more
europepmc   +1 more source

Inherited retinal dystrophies and orphan designations in the European Union. [PDF]

Eur J Ophthalmol
Moseley J, Leest T, Larsson K, Magrelli A, Stoyanova-Beninska V.   +4 more
europepmc   +1 more source

Whole-Exome Sequencing Improves Understanding of Inherited Retinal Dystrophies in Korean Patients. [PDF]

Curr Issues Mol Biol
Park Y, Kim Y, Koh I, Lee JY.
europepmc   +1 more source

Prevalence of IMPG1 and IMPG2 Mutations Leading to Retinitis Pigmentosa or Vitelliform Macular Dystrophy in a Cohort of Patients with Inherited Retinal Dystrophies. [PDF]

Genes (Basel)
Yuan M, Chatterjee S, Leys M, Odom JV, Salido EM.   +4 more
europepmc   +1 more source

Biallelic Loss-of-Function Variants in UBAP1L and Nonsyndromic Retinal Dystrophies.

JAMA Ophthalmol
Ullah E, Lin S, Lu J, Bender C, Webster AR, Malka S, Madhusudhan S, Rees E, Williams D, Agather AR, Cukras CA, Hufnagel RB, Chen R, Huryn LA, Arno G, Guan B.   +15 more
europepmc   +1 more source

High prevalence of exon-13 variants in USH2A-related retinal dystrophies in Taiwanese population. [PDF]

Orphanet J Rare Dis
Lin YW, Huang YS, Lin CY, Lin CW, Wu CC, Yang CH, Yang CM, Chen PL, Chen TC.   +8 more
europepmc   +1 more source

Portuguese Society of Ophthalmology and Portuguese Society of Human Genetics Joint Clinical Practice Guidelines for Genetic Testing in Inherited Retinal Dystrophies. [PDF]

Clin Genet
Marques JP, Soares CA, Carvalho AL, Estrela-Silva S, Santos LC, Ramos L, Silva E.   +6 more
europepmc   +1 more source