Prevalence and mode of inheritance of major genetic eye diseases in China.
about
Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa.Congenital cataract: prevalence and surgery age at Zhongshan Ophthalmic Center (ZOC).Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families.Novel mutations in CRYGC are associated with congenital cataracts in Chinese families.Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families.Association of lumican gene with susceptibility to pathological myopia in the northern han ethnic chineseDifferential pattern of RP1 mutations in retinitis pigmentosa.A novel mutation in retinitis pigmentosa GTPase regulator gene with a distinctive retinitis pigmentosa phenotype in a Chinese family.Increased risk of acute angle closure in retinitis pigmentosa: a population-based case-control study.High-Resolution Imaging of Patients with Bietti Crystalline Dystrophy with CYP4V2 MutationGenetic analysis of Chinese families reveals a novel truncation allele of the retinitis pigmentosa GTPase regulator gene.Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy.Good epidemiologic practice in retinitis pigmentosa: from phenotyping to biobanking.Molecular screening of the CYP4V2 gene in Bietti crystalline dystrophy that is associated with choroidal neovascularization.Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencingNonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations.The genetics of strabismusPrevalence and epidemiological characteristics of congenital cataract: a systematic review and meta-analysis.A strabismus susceptibility locus on chromosome 7pClinical and genetic features in Italian Bietti crystalline dystrophy patientsLong-term visual outcome of congenital cataract at a Tertiary Referral Center from 2004 to 2014.Clinical presentation and management of congenital ptosisNovel mutations of CRB1 in Chinese families presenting with retinal dystrophies.Clinical and Rehabilitative Management of Retinitis Pigmentosa: Up-to-Date.Four-year nationwide incidence of retinitis pigmentosa in South Korea: a population-based retrospective study from 2011 to 2014.Pediatric Blepharoptosis.Outcome of monocular surgery for horizontal strabismus in Hyderabad.Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy.Current techniques in surgical correction of congenital ptosis.Identification of a novel GJA3 mutation in a large Chinese family with congenital cataract using targeted exome sequencing.Motor and sensory characteristics of infantile nystagmusA case of Bietti crystalline dystrophy with preserved visual acuity and extinguished electroretinogram: a case report.Novel locus for X linked recessive high myopia maps to Xq23-q25 but outside MYP1.Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches.Amblyopia, Strabismus and Refractive Errors in Congenital Ptosis: a systematic review and meta-analysis.Ptosis in childhood: A clinical sign of several disorders: Case series reports and literature reviewPrevalence and characteristics of peripheral myopic retinopathy in Guangzhou office workers
P2860
Q30540706-9E1465BA-6C89-4195-9A76-CDF2DF9D18D8Q31172634-E61E7AA6-6ED1-45B6-BA6D-962B1B56D035Q33580236-1D906287-47EE-4F8B-A2A0-19F0FFBF9B5AQ33671000-CADAF64B-9010-4C97-972B-52CDDF3277D8Q33694534-CC3F336E-6B30-460D-A708-A6D4865B333FQ33720745-9EE5B38E-AA01-4641-A37C-63E7E9D5164BQ34001770-8CD41A27-5A17-4A8A-94AE-3426F809739CQ34081528-80DFD757-830B-4429-839A-F89A7AE33E97Q34184291-7281321A-885D-48FE-98C5-2BD1AC3AD8AFQ34206422-D4EB3E3B-8CB0-4726-9EEC-47E41D6FE394Q34390529-86421507-402D-403E-B906-9567F22B4AAAQ34987468-3066C9E2-EE1C-48B5-812A-E7EF57040ADAQ35092183-D246A2C7-5B12-43F5-ACC2-5AF0B61CC7CDQ35158280-F693D541-6063-466F-848C-24E9A7710148Q35557035-9E9145A7-0613-478E-A904-8B7B743E9D5FQ35862223-FE3AA04A-A3AC-4C94-8782-9C151525B9C1Q35876992-2FE93E7B-A638-4FAC-8DC3-E6A6266F9BE2Q36059332-0C7140E1-BC08-41E5-8178-5F48C59003FEQ36349595-D21998A6-19DB-484C-B746-A5E9754B34D2Q36638006-7C937CBF-D745-4AFD-B18D-174742D65F6FQ36938109-BBE0AB69-A64C-41AD-9351-04B515336AE2Q37682869-147BEA88-1732-43D4-B10E-B389EC385625Q37686427-97D054F8-8F1A-481B-9473-2615089A2365Q37963356-BCD711C6-DBC4-4F47-9CAC-81DD217B8904Q38793739-773846AA-F3A4-4827-B72F-2F575462DD12Q39159018-C0DFA27E-5DC2-4366-8C21-92BC3CD1D99DQ40273860-60785F56-B221-4671-AA42-474F0A6BB653Q40397099-CEA92674-D1F6-4BAB-8BB0-05D8A931F913Q41454115-840E340A-FF0E-4F6C-AD4C-E17B1F2EF0A8Q41634572-754C4EB7-D845-4998-A637-CFA76DA1EEE7Q41787101-18033025-8CDA-49E6-AB38-D961B0D19034Q41955925-670B17C2-F4D2-4B42-A9C2-FAD63250934FQ43168499-162B7B67-ED5E-453E-9F89-6DE2AE3FACF3Q46529868-067155BA-7F01-4C46-A7D5-931694C69494Q55092085-5F815B0D-4634-4121-9D41-633713E09DEDQ58759193-B6DC2FC8-C719-460D-86A7-A18E6FC7D21BQ58767148-73327A36-D0D4-4929-83D8-25F6A7F4A3E4
P2860
Prevalence and mode of inheritance of major genetic eye diseases in China.
description
1987 nî lūn-bûn
@nan
1987 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1987 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1987年の論文
@ja
1987年論文
@yue
1987年論文
@zh-hant
1987年論文
@zh-hk
1987年論文
@zh-mo
1987年論文
@zh-tw
1987年论文
@wuu
name
Prevalence and mode of inheritance of major genetic eye diseases in China.
@ast
Prevalence and mode of inheritance of major genetic eye diseases in China.
@en
type
label
Prevalence and mode of inheritance of major genetic eye diseases in China.
@ast
Prevalence and mode of inheritance of major genetic eye diseases in China.
@en
prefLabel
Prevalence and mode of inheritance of major genetic eye diseases in China.
@ast
Prevalence and mode of inheritance of major genetic eye diseases in China.
@en
P356
P1476
Prevalence and mode of inheritance of major genetic eye diseases in China
@en
P2093
P304
P356
10.1136/JMG.24.10.584
P407
P577
1987-10-01T00:00:00Z