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American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2019, Volume 179, Issue 2, pp. 312 - 316
Mutations in the gene SCAPER ( S ‐phase C yclinA A ssociated P rotein residing in the E ndoplasmic R eticulum) have recently been identified as causing... 
retinitis pigmentosa | syndromic disorder | SCAPER | autosomal recessive | PROTEIN | GENES | GENETICS & HEREDITY | MUTATIONS | Medical students | Retinitis pigmentosa | Attention deficit disorder | Intellectual disabilities | Hyperactivity | Attention deficit hyperactivity disorder | Retinitis | Mutation | Endoplasmic reticulum | Genetic screening
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 2017, Volume 54, Issue 9, pp. 624 - 632
Journal Article
Seminars in Ophthalmology, ISSN 0882-0538, 05/2018, Volume 33, Issue 4, pp. 560 - 565
Purpose: EYS and USH2A are the most common causative genes for retinitis pigmentosa (RP) in Japan. We determined the clinical outcomes for USH2A-related... 
hearing impairment | genetic disorder | non-syndromic retinitis pigmentosa | rod-cone dysfunction | EYS gene | GENOTYPE-PHENOTYPE CORRELATION | POPULATION | FREQUENT | 2299DELG | SYNDROME TYPE-II | LARGE COHORT | LONG ISOFORM | GENE | SYNDROME TYPE-2 | OPHTHALMOLOGY | SPECTRUM | Index Medicus
Journal Article
Regulatory Peptides, ISSN 0167-0115, 2010, Volume 160, Issue 1, pp. 64 - 67
The aim of this study was to investigate the behaviour of plasma endothelin-1 (ET-1) levels in patients affected by retinitis pigmentosa (RP) and syndromic RP.... 
Syndromic retinitis pigmentosa | Retinitis pigmentosa | Endothelin-1 | PHYSIOLOGY | RECEPTOR | BLOOD-FLOW | CELL-DEATH | EYE | DISEASE | ENDOCRINOLOGY & METABOLISM | RETINAL-DETACHMENT | SECRETION | GLAUCOMA | Humans | Middle Aged | Radioimmunoassay | Adult | Female | Male | Retinitis Pigmentosa - blood | Endothelin-1 - blood | Index Medicus
Journal Article
Journal Article
Clinical Biochemistry, ISSN 0009-9120, 2005, Volume 38, Issue 8, pp. 735 - 738
Journal Article
Clinical Genetics, ISSN 0009-9163, 1995, Volume 48, Issue 3, pp. 120 - 122
Retinitis pigmentosa is a term commonly given to a group of inherited and progressive disorders which affect the photoreceptors of the retina, As part of an... 
Non-syndromic RP | Genetic types | Syndromic RP | Retinitis pigmentosa | Spain | non‐syndromic RP | GENETIC TYPES | NON-SYNDROMIC RP | RETINITIS PIGMENTOSA | GENETICS & HEREDITY | PREVALENCE | SYNDROMIC RP | SPAIN
Journal Article
ARCHIVES OF IRANIAN MEDICINE, ISSN 1029-2977, 11/2015, Volume 18, Issue 11, pp. 776 - 785
Background: Non-syndromic autosomal recessive Retinits Pigmentosa (arRP) is a highly heterogeneous genetic visual disorder with a large number of causative... 
SEVERE RETINAL DYSTROPHY | MACULAR DEGENERATION | PIGMENTOSA | IDENTIFICATION | whole exome sequencing | ABCA4 GENE | MEDICINE, GENERAL & INTERNAL | Autosomal recessive | LEBER CONGENITAL AMAUROSIS | CHILDHOOD BLINDNESS | Iran | consanguinity | MOLECULAR DIAGNOSIS | non-syndromic | retinitis pigmentosa | MUTATIONS | STARGARDT-DISEASE
Journal Article
Journal Article
Journal Article
Journal Article