about
Retinitis pigmentosaNovel deletion in the pre-mRNA splicing gene PRPF31 causes autosomal dominant retinitis pigmentosa in a large Chinese familyUpdate on the molecular genetics of retinitis pigmentosaHomozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.Studies on retinitis pigmentosa in man. I. Taurine and blood platelets.Molecular genetics of retinitis pigmentosaLinkage analysis of X linked retinitis pigmentosa in the Irish population.Phenotype-genotype correlations in X linked retinitis pigmentosa.Nine generations of a family with autosomal dominant retinitis pigmentosa and evidence of variable expressivity from census records.Retinitis pigmentosa families showing apparent X linked inheritance but unlinked to the RP2 or RP3 lociGenetic localisation of the RP2 type of X linked retinitis pigmentosa in a large kindred.Management of inherited outer retinal dystrophies: present and future.Studies on retinitis pigmentosa in man. II. Erythrocyte osmotic fragility.A study of retinitis pigmentosa in the City of Birmingham. II Clinical and genetic heterogeneityRetinitis pigmentosa and allied conditions today: a paradigm of translational researchRecent advances in the molecular basis of inherited photoreceptor degeneration.A novel mutation in retinitis pigmentosa GTPase regulator gene with a distinctive retinitis pigmentosa phenotype in a Chinese family.Interaction and localization of the retinitis pigmentosa protein RP2 and NSF in retinal photoreceptor cells.Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management.Gene augmentation for X-linked retinitis pigmentosa caused by mutations in RPGRLinkage relationships between X-linked retinitis pigmentosa and nine short-arm markers: exclusion of the disease locus from Xp21 and localization to between DXS7 and DXS14.An atypical phenotype of macular and peripapillary retinal atrophy caused by a mutation in the RP2 gene.Psychological disorders in patients with retinitis pigmentosa in iran.Eye Motility Alterations in Retinitis PigmentosaNonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations.Heterogeneity analysis in 40 X-linked retinitis pigmentosa familiesMutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative diseaseAge-dependent disease expression determines remodeling of the retinal mosaic in carriers of RPGR exon ORF15 mutationsOcular findings associated with a 3 base pair deletion in the peripherin-RDS gene in autosomal dominant retinitis pigmentosaAutosomal dominant retinitis pigmentosa mapping to chromosome 7p exhibits variable expression.Bimodal expressivity in dominant retinitis pigmentosa genetically linked to chromosome 19q.A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.The molecular basis of retinal dystrophies in pakistan.mRNA metabolism and neuronal disease.A review of the mechanisms of cone degeneration in retinitis pigmentosa.Structural and molecular bases of rod photoreceptor morphogenesis and disease.Molecular genetic approaches to the analysis of human ophthalmic disease.The first decade of continuous progress in retinal transplantation.Risk calculation in retinitis pigmentosa.
P2860
Q21203028-9D51011B-680F-424A-B37E-8D5FADB22D6EQ24674843-414A51BD-EB79-4367-B16F-B64B96343D33Q28216433-D423FF6F-C209-404C-ACD6-F6F51B9CB8C9Q30389304-DEADE31E-0541-4723-B2E6-7B36DF03D155Q33484891-FCDC4ECE-79D1-4317-88DC-8A84BCDA927FQ33559646-7BEF0DA6-E510-4C72-A246-F5478F195D37Q33592604-9523C7D3-C8D1-41B3-BA2B-1CF849B302F9Q33594415-C8670CC4-B552-46EE-984A-C2B119429FC3Q33594801-7C8ADAA3-9A37-4943-8CFA-AD4556815068Q33596177-CE0964C3-A015-4E10-9388-C7B9316277C1Q33597258-BFBE635F-5E88-49D9-9405-7B0CE583EFFCQ33597489-4846EE3D-937F-4683-873D-E46F7D47E4F9Q33643891-B18AEF35-3C9F-445E-8928-2F5E9FEF8289Q33671669-71AF77C5-9ABD-47DB-8601-647E98E94BD3Q33918834-510EFCAB-5706-4D9A-8BF8-96F281A29143Q33942183-AF7EF303-335D-4252-B42E-79901FE823E7Q34081528-679CF3F7-5B27-496A-8666-1B0B7C67FC2CQ34140482-E250F847-D5B2-4C20-AC4A-668D3622B6E7Q34563748-11E0527B-980A-4125-916D-D17DE513B413Q35045072-3CF04647-4A2D-4B81-A508-CD5F0FC1E384Q35199496-9473C2CA-5D2B-4EBD-BCBC-D4828A08A691Q35591946-2C2F2381-6133-4841-9EB2-BF36EA09AC8EQ35612832-426B31A4-2BE0-4319-AA99-57AD83CD3321Q35739689-6D917873-2E8A-4BE9-B7C5-CFA236912239Q35862223-C1F95011-7815-442D-8D70-3E7C20D878C5Q35889226-E7786737-417E-4292-8960-665C2C5C6B26Q36467228-4B77A116-B16A-42E1-AB94-D7601F642892Q37281623-9284E859-BBAB-450F-9406-5A4A21C4541FQ37309065-3F442119-2504-45F0-B1FF-6ED582859C3FQ37309909-D84044D0-302F-430A-BCF9-9E6E0DE12724Q37315234-55531D0E-845A-4036-A868-80C8485153E8Q37454102-C34E1BEF-370D-4B48-9A40-35277EA6130CQ37523506-C061FE01-969D-4DF1-A273-046A1B1E43D3Q37689840-76FB75BF-69D1-49BE-9831-6937A875266EQ38469185-94D9384A-1D81-4940-A9E0-F93752A5C7D7Q38879021-DC5F3DAE-BBD9-4AE4-BA84-3A6077201001Q38879791-2BE9717E-27E3-4333-8B39-9221625E7349Q39701871-6DEA0BEF-A1B1-485F-8B41-44FD314BD608Q41335395-4E9C9678-E066-4100-914A-89B495C1CA14Q43145860-FE1AE3A9-50E2-4B32-A21E-DFFB34F4D6ED
P2860
description
1982 nî lūn-bûn
@nan
1982 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1982 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1982年の論文
@ja
1982年論文
@yue
1982年論文
@zh-hant
1982年論文
@zh-hk
1982年論文
@zh-mo
1982年論文
@zh-tw
1982年论文
@wuu
name
On the heredity of retinitis pigmentosa.
@ast
On the heredity of retinitis pigmentosa.
@en
type
label
On the heredity of retinitis pigmentosa.
@ast
On the heredity of retinitis pigmentosa.
@en
prefLabel
On the heredity of retinitis pigmentosa.
@ast
On the heredity of retinitis pigmentosa.
@en
P2860
P356
P1476
On the heredity of retinitis pigmentosa.
@en
P2093
P2860
P304
P356
10.1136/BJO.66.7.405
P407
P577
1982-07-01T00:00:00Z