about
Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21X-linked progressive mixed deafness: a new microdeletion that involves a more proximal region in Xq21.Mutation of the zebrafish choroideremia gene encoding Rab escort protein 1 devastates hair cells.Quantification of the DNA content of structurally abnormal X chromosomes and X chromosome aneuploidy using high resolution bivariate flow karyotyping.A maternally inherited 8.05 Mb Xq21 deletion associated with Choroideremia, deafness, and mental retardation syndrome in a male patient.Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardationPhenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss.Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal XqA bayesian translational framework for knowledge propagation, discovery, and integration under specific contexts.The Spectrum of CHM Gene Mutations in Choroideremia and Their Relationship to Clinical Phenotype.Choroideremia: a review of general findings and pathogenesis.Deletion mapping of X-linked mixed deafness (DFN3) identifies a 265-525-kb region centromeric of DXS26.Central areolar choroidal dystrophy and slowly progressive sensorineural hearing loss.Choroideremia: effect of age on visual acuity in patients and female carriers.
P2860
Q24677549-322B651B-A696-4A60-830A-D6F580FBDF5DQ30500766-A3F8443A-CED8-408F-857A-0CDA2CB9A1A5Q30500891-A8421E6D-23E4-4535-B43F-8AC28BDBC5AEQ33743257-DBBFAD3D-54CA-470F-A3CD-F4A14203FDE3Q33802326-CB30C166-FCA4-4C6E-B45D-307DB3FC2033Q34346727-18AA044C-8452-416A-A745-F98BDBA7CB53Q35223619-D52C088E-A426-4A48-A379-5C97AADA30FAQ35247517-EE9E61BD-5794-4F75-A1E4-9974C72CDEEAQ36082961-36D9B440-719B-46A9-8141-7A6AB62E6761Q37404457-59D64B4B-8B5C-4674-95C7-1B7C70B83647Q37948089-DDD35250-A980-4455-8EE2-4534D4F615B5Q42951290-4C2DABF2-6A5A-42CB-B82A-CA37B5CE4FB5Q50512219-8A3B5463-0E84-4352-8D27-BD8F67A28854Q50995412-01F65DD1-9336-43A4-99E9-45C104314136
P2860
description
1981 nî lūn-bûn
@nan
1981 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1981 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1981年の論文
@ja
1981年論文
@yue
1981年論文
@zh-hant
1981年論文
@zh-hk
1981年論文
@zh-mo
1981年論文
@zh-tw
1981年论文
@wuu
name
Choroideremia, obesity, and congenital deafness
@ast
Choroideremia, obesity, and congenital deafness
@en
Choroideremia, obesity, and congenital deafness
@nl
type
label
Choroideremia, obesity, and congenital deafness
@ast
Choroideremia, obesity, and congenital deafness
@en
Choroideremia, obesity, and congenital deafness
@nl
prefLabel
Choroideremia, obesity, and congenital deafness
@ast
Choroideremia, obesity, and congenital deafness
@en
Choroideremia, obesity, and congenital deafness
@nl
P3181
P1476
Choroideremia, obesity, and congenital deafness
@en
P2093
P3181
P356
10.1016/S0002-9394(14)75909-4
P407
P577
1981-07-01T00:00:00Z