about
Retinitis pigmentosaThe Argus II prosthesis facilitates reaching and grasping tasks: a case seriesIdentification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosaA mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosaMutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosaMutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosaGenomic organization and complete sequence of the human gene encoding the beta-subunit of the cGMP phosphodiesterase and its localisation to 4p 16.3Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11) and association with a unique bimodal expressivity phenotypeIdentification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresisPhotobiomodulation for the treatment of retinal diseases: a reviewRole of Nuclear Receptors in Central Nervous System Development and Associated DiseasesEarly synaptic defects in tulp1-/- miceMolecular genetics of retinitis pigmentosaHomozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families.Phenotype-genotype correlations in X linked retinitis pigmentosa.A study of retinitis pigmentosa in the City of Birmingham. I PrevalenceA study of retinitis pigmentosa in the City of Birmingham. II Clinical and genetic heterogeneityA linkage survey of 20 dominant retinitis pigmentosa families: frequencies of the nine known loci and evidence for further heterogeneityA new dominant retinitis pigmentosa family mapping to the RP18 locus on chromosome 1q11-21.Mutations in ASCC3L1 on 2q11.2 are associated with autosomal dominant retinitis pigmentosa in a Chinese family.Retinitis pigmentosa and allied conditions today: a paradigm of translational researchXenopus laevis P23H rhodopsin transgene causes rod photoreceptor degeneration that is more severe in the ventral retina and is modulated by light.A novel mutation in retinitis pigmentosa GTPase regulator gene with a distinctive retinitis pigmentosa phenotype in a Chinese family.Ocular findings in a form of retinitis pigmentosa with a rhodopsin gene defect.Increased risk of acute angle closure in retinitis pigmentosa: a population-based case-control study.Antibodies to neurofilament protein in retinitis pigmentosa.Willingness to pay for genetic testing for inherited retinal disease.Good epidemiologic practice in retinitis pigmentosa: from phenotyping to biobanking.Autosomal dominant retinitis pigmentosa: no evidence for nonallelic genetic heterogeneity on 3q.Linkage 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.Localization of the gene for X-linked recessive type of retinitis pigmentosa (XLRP) to Xp21 by linkage analysis.Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencingPsychological disorders in patients with retinitis pigmentosa in iran.Eye Motility Alterations in Retinitis PigmentosaArtificial means for restoring visionMice with a D190N mutation in the gene encoding rhodopsin: a model for human autosomal-dominant retinitis pigmentosaRP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosaA novel locus for autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family maps to chromosome 2p.Stem cell-based therapeutic applications in retinal degenerative diseases.A microfabricated scaffold for retinal progenitor cell grafting
P2860
Q21203028-5EBA1530-28CA-464C-BC3D-354BA06FDBA2Q21260364-34D4CE95-C875-4543-B1D2-86953EA11C02Q24294725-9A3490AA-3750-471B-B071-BAF1E30C5551Q24297596-299A9A38-FD22-41E2-B6B3-D4EC6D73BDA7Q24560214-ACDF4B23-1B12-483B-9F1C-3CBE752F31EEQ24564816-E17A2C0B-20CE-4CBD-B2B5-AC9FEFF876FCQ24628626-C58FAF42-EC0C-4E08-9E6B-42C724F36A54Q24675745-2043BABF-A8D4-4123-AA20-EB737C48982BQ24678541-6D0357FD-06AB-4994-A4B3-BBAE69BE74E1Q26767427-7DE4C600-77CA-430D-8D34-C4A456F656A6Q27025212-73A654DB-8D38-48A1-9E18-AC17FC5DB935Q28587162-FE616FA5-4F40-4FFA-83AC-7D807CF6C62BQ33559646-5AC6DF18-2F91-4F9F-BEC1-A2403DB84FC5Q33580236-8B42E76C-2B45-40C7-8639-0568F061C1BDQ33594415-DEC35530-AEA0-42D1-8BD6-EBED1089F426Q33671661-1AC937F2-4256-41A2-A153-F407302E3C4BQ33671669-4FAA1DE1-EB38-4EE7-BDBB-FDDB1C06899BQ33679975-A75273E2-5395-438D-859F-2D97BB625368Q33681323-EFEFED57-B1B9-4BBD-B139-D91C4C5C2E9BQ33845359-9600609B-D8E0-43E2-BAC2-19F4622E5E63Q33918834-00A5680C-E371-40FE-B940-5E35D169C7A4Q34024392-A09E4240-06EE-4364-83F2-DBE7FE419995Q34081528-06C14643-CA0B-48E6-8E37-099163C44FA1Q34143920-4E352FA1-7E28-41FF-8DE0-9FD60A0256CEQ34184291-D2646EFD-8293-40A1-8262-D973E4C3B9B6Q34540486-628879AA-3FBF-4BFD-BD9D-F1FE26572BA2Q35079939-A3BCE139-3E6F-420B-A476-A4AA600B4098Q35092183-E991C794-B6A4-45E3-BC6A-62B08B97F72BQ35194501-B655334F-D344-483F-BC3A-AFC2CA27B6B2Q35199496-6DC5DD67-847A-4F75-97C0-99E3F8AB9CC3Q35247496-AA3FF90A-C184-4501-AD54-195DE2CFA795Q35557035-B7CCBD91-D74C-4A06-B0EB-42414B71D618Q35612832-A56C03BA-DCA9-49D7-9173-2462CA84F9C9Q35739689-3D5F2431-8C47-483F-B6E3-C3FF9CD50001Q35997009-A8F6C936-9EE6-42DB-B385-04BF2524D3A3Q36071687-83287B97-6A26-4E0D-A038-7FFB6301C11EQ36083346-405279D3-B951-4C11-B90F-CBAC990AE236Q36102915-78BB41C6-88D0-4D8F-A55C-4629B6436EA6Q36127641-CD864D47-E908-4D66-B26E-22567F332496Q36326596-035DB2F0-B348-491D-9A8F-CE1B29A03E83
P2860
description
1980 nî lūn-bûn
@nan
1980 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1980 թվականի մարտին հրատարակված գիտական հոդված
@hy
1980年の論文
@ja
1980年論文
@yue
1980年論文
@zh-hant
1980年論文
@zh-hk
1980年論文
@zh-mo
1980年論文
@zh-tw
1980年论文
@wuu
name
Population genetic studies of retinitis pigmentosa.
@ast
Population genetic studies of retinitis pigmentosa.
@en
type
label
Population genetic studies of retinitis pigmentosa.
@ast
Population genetic studies of retinitis pigmentosa.
@en
prefLabel
Population genetic studies of retinitis pigmentosa.
@ast
Population genetic studies of retinitis pigmentosa.
@en
P2093
P2860
P1476
Population genetic studies of retinitis pigmentosa
@en
P2093
J A Boughman
P M Conneally
P2860
P304
P407
P577
1980-03-01T00:00:00Z