Usher syndrome clinical types I and II: could ocular symptoms and signs differentiate between the two types?
about
USH2 caused by GPR98 mutation diagnosed by massively parallel sequencing in advance of the occurrence of visual symptoms.The Usher gene cadherin 23 is expressed in the zebrafish brain and a subset of retinal amacrine cells.Myosin7a deficiency results in reduced retinal activity which is improved by gene therapy.Novel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese family.Cone responses in Usher syndrome types 1 and 2 by microvolt electroretinographyRetinal disease course in Usher syndrome 1B due to MYO7A mutationsMutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.Genetic analysis for two italian siblings with usher syndrome and schizophrenia.The changing face of Usher syndrome: clinical implications.Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism.Genetics and pathological mechanisms of Usher syndrome.Psychosis, Mood and Behavioral Disorders in Usher Syndrome: Review of the Literature.Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations.Prevalence of macular abnormalities assessed by optical coherence tomography in patients with Usher syndrome.
P2860
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P2860
Usher syndrome clinical types I and II: could ocular symptoms and signs differentiate between the two types?
description
2002 nî lūn-bûn
@nan
2002年の論文
@ja
2002年学术文章
@wuu
2002年学术文章
@zh
2002年学术文章
@zh-cn
2002年学术文章
@zh-hans
2002年学术文章
@zh-my
2002年学术文章
@zh-sg
2002年學術文章
@yue
2002年學術文章
@zh-hant
name
Usher syndrome clinical types ...... entiate between the two types?
@en
Usher syndrome clinical types ...... entiate between the two types?
@nl
type
label
Usher syndrome clinical types ...... entiate between the two types?
@en
Usher syndrome clinical types ...... entiate between the two types?
@nl
prefLabel
Usher syndrome clinical types ...... entiate between the two types?
@en
Usher syndrome clinical types ...... entiate between the two types?
@nl
P2093
P2860
P1433
P1476
Usher syndrome clinical types ...... entiate between the two types?
@en
P2093
Anita Pikus
Benjamin I Rubin
Ekaterini T Tsilou
Fumino Iwata
George F Reed
James F Hejtmancik
Joy B Redman
Muriel I Kaiser-Kupfer
Rafael C Caruso
P2860
P304
P356
10.1034/J.1600-0420.2002.800215.X
P577
2002-04-01T00:00:00Z