We studied the expression of RP11 in lymphoblast cell lines from 10 patients, including three who were clinically asymptomatic, with six distinct RP11 mutations. [semanticscholar.org]

Clinically asymptomatic carriers had levels of RP11 mRNA similar to controls and 29-42% higher than in clinically affected patients (0.0001 [ncbi.nlm.nih.gov]

Assessment of CNV in asymptomatic and symptomatic mutation carrying individuals Genomic DNA was extracted from peripheral blood samples of PRPF31 mutation-carrying individuals under standard conditions (72 individuals: 42 symptomatic and 29 asymptomatic [nature.com]

Though our recent studies we demonstrated that symptomatic and asymptomatic individuals in a given sib-ship consistently inherited different wild-type (WT) alleles of pRPF from their unaffected parent. [discovery.ucl.ac.uk]

This richly illustrated, full color text covers areas such as: malformations; refractive errors, the cornea, glaucoma and cataracts; retina and the optic nerve; eye movement disorders, and systemic disease of the eye. [books.google.de]

Extrapyramidal and movement disorders Hallervorden-Spatz syndrome /Pantothenate kinase-associated neurodegeneration (PKAN)/neurodegeneration with brain iron accumulation 1 (NBIA 1) Parkinson’s disease Shy-Drager syndrome /Multiple System Atrophy /Striatonigral [ndis.gov.au]

Short stature, renal dysfunction, and polydactyly are some signs of Bardet-Biedl syndrome or Laurence-Moon syndrome when associated with pigmentary retinopathy. [patient.info]

Retinal dystrophy, juvenile cataracts, and short stature syndrome,616108 RDH12Leber congenital amaurosis 13612712 RDH5Fundus albipunctatus,136880 RGRRetinitis pigmentosa 44613769 RGS9Bradyopsia,608415 RGS9BPBradyopsia,608415 RHONight blindness, congenital [qgenomics.com]

A pediatrician and a dentist need to be part of the medical team as well. Little is known about the prognosis and no specific treatment is available. However, special education, low vision aids and physical therapy might be beneficial. [disorders.eyes.arizona.edu]

The teeth may have wide spaces between them and malocclusion is common. Learning difficulties and developmental delay seem to be part of the syndrome. Genetics: The family pattern is consistent with autosomal recessive inheritance. [disorders.eyes.arizona.edu]

The genetic length of the region harbouring this novel ARRP locus on the short arm of chromosome 2 is about 16 cM. [jmg.bmj.com]

Linkage mapping in a large, seven-generation family with type 2 autosomal dominant retinitis pigmentosa (ADRP) demonstrates linkage between the disease locus ( RP1 ) and DNA markers on the short arm of human chromosome 8 [4]. [wikigenes.org]

Learning difficulties and developmental delay seem to be part of the syndrome. Genetics: The family pattern is consistent with autosomal recessive inheritance. A double gene mutation is responsible. [disorders.eyes.arizona.edu]

carcinoma. ( 30362374 ) Song H...Hao X 2018 5 Dependence of artesunate on long noncoding RNA-RP11 to inhibit epithelial-mesenchymal transition of hepatocellular carcinoma. ( 30335897 ) Jing W...Rongbo Z 2018 6 Long non-coding RNAs RP5-821D11.7, APCDD1L-AS1 [malacards.org]

carcinoma Lrat Hereditary Eye Diseases Lrat, Rlbp1, Rpe65 Hereditary Neoplastic Syndromes Pde6a hereditary night blindness Sag human immunodeficiency virus infectious disease Prpf8 Hypertriglyceridemia Rp1 Iron Overload Best1 Joubert syndrome Ush2a Krabbe [rgd.mcw.edu]