Citations for
1AIED, CACNA1F
Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark.
Hove MN, Kilic-Biyik KZ, Trotter A, Grønskov K, Sander B, Larsen M, Carroll J, Bech-Hansen T, Rosenberg T.
Invest Ophthalmol Vis Sci 57(15):6861-6869. doi: 10.1167/iovs.16-19445. 2016
2AIED, CACNA1F
A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family.
Vincent A, Wright T, Day MA, Westall CA, Héon E.
Mol Vis 17:3262-70. Epub 2011 Dec 15. 2011
3AIED,CACNA1F
A novel CACNA1F gene mutation causes Aland Island eye disease.
Jalkanen R, Bech-Hansen NT, Tobias R, Sankila EM, Mantyjarvi M, Forsius H, de la Chapelle A, Alitalo T.
Invest Ophthalmol Vis Sci 48(6):2498-502. 2007
4AIED
Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome.
Glass IA, et al.
J Med Genet 30 : 1044-1050. 1993
5AIED
Aland eye disease : linkage data.
Schwartz M, et al.
Genomics 10 : 327-332. 1991
6AIED
Localization of the Aland island eye disease locus to the pericentromeric region of the X chromosome by linkage analysis.
Alitalo T, et al.
Am J Hum Genet 48 : 31-38. 1991
7AIED
Linkage analysis of Aland island eye disease.
Glass IA, et al.
Am J Hum Genet 49S : 340. 1991
8AIED
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.
Pillers DAM, et al.
Am J Med Genet 36 : 23-28. 1990
9AIED
Deletion mapping of Aland island eye disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy.
Pillers DAM, et al.
Am J Hum Genet 47 : 795-801. 1990
10AIED
Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindness.
Weleber RG, Pillers DA, Powell BR, Hanna CE, Magenis RE, Buist NR.
Arch Ophthalmol 107 : 1170-1179. 1989
11AIED
Aland eye disease (syndrome Forsius-Eriksson).
Waardenburg PJ, et al.
Prog Neurol Ophthalmic 2 : 336-339. 1969
12AIED
Ein neues Augensyndrom mit X-chromosomaler transmission. Eine Sippe mit Fundusalbinismus. Foveahypoplasie. Nystagmus. Myopie. Astigmatismus und Dyschromatopsie.
Forsius H, et al.
Klin Monatsbl Augenheilkd 144 : 447-457. 1964