Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindness.

Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindness.

Item
http://www.wikidata.org/entity/Q38671213
Evidence for genetic heterogeneity in X-linked congenital stationary night blindness.Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retinaGenetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome.Duchenne muscular dystrophy: negative electroretinograms and normal dark adaptation. Reappraisal of assignment of X linked incomplete congenital stationary night blindness.Congenital nystagmus in a (46,XX/45,X) mosaic woman from a family with X-linked congenital nystagmus.Localization of the Aland Island eye disease locus to the pericentromeric region of the X chromosome by linkage analysis.Xp21 contiguous gene syndromes: deletion quantitation with bivariate flow karyotyping allows mapping of patient breakpoints.Deletion mapping of Aland Island eye disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy.The clinical features of albinism and their correlation with visual evoked potentialsA novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family.Cone dystrophies with negative photopic electroretinogram.Correlation between electroretinogram findings and molecular analysis in the Duchenne muscular dystrophy phenotype.Isoflurane is an effective alternative to ketamine/xylazine/acepromazine as an anesthetic agent for the mouse electroretinogram.Identification of a key recombinant which assigns the incomplete congenital stationary night blindness gene proximal to MAOB.Aland eye disease (Forsius-Eriksson-Miyake syndrome) with probability established in a Danish family.The importance of genetic testing as demonstrated by two cases of CACNA1F-associated retinal generation misdiagnosed as LCA.Aland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia.
P2860

Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindness.

Item
http://www.wikidata.org/entity/Q38671213
description
1989 nî lūn-bûn
@nan
1989年の論文
@ja
1989年論文
@yue
1989年論文
@zh-hant
1989年論文
@zh-hk
1989年論文
@zh-mo
1989年論文
@zh-tw
1989年论文
@wuu
1989年论文
@zh
1989年论文
@zh-cn
name
Aland Island eye disease (Fors ...... al stationary night blindness.
@en
type
label
Aland Island eye disease (Fors ...... al stationary night blindness.
@en
prefLabel
Aland Island eye disease (Fors ...... al stationary night blindness.
@en
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P577
P698
P921
P356
P1433
P1476
Aland Island eye disease (Fors ...... al stationary night blindness.
@en
P2093
P304
P31
P356
10.1001/ARCHOPHT.1989.01070020236032
P407
P433
P478
P577
P698
P921