Aland island eye disease: clinical and electrophysiological studies of a Welsh family

scientific article published on May 1995

Aland island eye disease: clinical and electrophysiological studies of a Welsh family is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1136/BJO.79.5.424
P932PMC publication ID505128
P698PubMed publication ID7612552
P5875ResearchGate publication ID15585698

P2093author name stringThomas NS
Clarke A
Good P
Hawksworth NR
Headland S
P2860cites workClinical and electroretinographic comparison between Åland Island eye disease and a newly found related disease with X-chromosomal inheritanceQ67854591
X-linked congenital stationary night blindness with myopia and nystagmus without clinical complaints of nyctalopiaQ68091118
Affected females in X-linked congenital stationary night blindnessQ68137418
Gene locus for X-linked CSNBQ68659190
Gene of X-chromosomal congenital stationary night blindness is closely linked to DXS7 on XpQ69368565
Reduced amplitude of oscillatory potentials in female carriers of X-linked recessive congenital stationary night blindnessQ70224572
X-Linked Form of MyopiaQ70873073
Loss of electroretinographic oscillatory potentials, optic atrophy, and dysplasia in congenital stationary night blindnessQ70995051
A decisive electrophysiological test for human albinismQ72692098
Aland eye disease: no albino misroutingQ93658628
Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome.Q33596132
Aland eye disease: linkage dataQ33658758
A NEW EYE SYNDROME WITH X-CHROMOSOMAL TRANSMISSION. A FAMILY CLAN WITH FUNDUS ALBINISM, FOVEA HYPOPLASIA, NYSTAGMUS, MYOPIA, ASTIGMATISM AND DYSCHROMATOPSIAQ34258472
Assignment of the gene for complete X-linked congenital stationary night blindness (CSNB1) to Xp11.3.Q34465777
Localization of the Aland Island eye disease locus to the pericentromeric region of the X chromosome by linkage analysis.Q35195904
Deletion mapping of Aland Island eye disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophyQ35198055
X-linked congenital stationary night blindness. Review and report of a family with hyperopiaQ39532361
Variable expressivity in X-linked congenital stationary night blindnessQ43916428
Visual system anomalies in human ocular albinosQ44267928
Congenital stationary night blindness with negative electroretinogram. A new classificationQ44444809
Aland eye disease (Forsius-Eriksson-Miyake syndrome) with probability established in a Danish familyQ44936014
X-linked ocular albinism. An oculocutaneous macromelanosomal disorder.Q50852975
P433issue5
P407language of work or nameEnglishQ1860
P921main subjectelectrophysiologyQ1154774
eye diseaseQ3041498
P304page(s)424-430
P577publication date1995-05-01
P1433published inBritish Journal of OphthalmologyQ13443571
P1476titleAland island eye disease: clinical and electrophysiological studies of a Welsh family
P478volume79

Reverse relations

cites work (P2860)
Q35629094A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family
Q34712842Assessment of night vision problems in patients with congenital stationary night blindness

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