1 | AIED, 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
|
2 | AIED, 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
|
3 | AIED,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
|
4 | AIED
|
| 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
|
5 | AIED
|
| Aland eye disease : linkage data.
|
| Schwartz M, et al.
|
| Genomics 10 : 327-332. 1991
|
6 | AIED
|
| 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
|
7 | AIED
|
| Linkage analysis of Aland island eye disease.
|
| Glass IA, et al.
|
| Am J Hum Genet 49S : 340. 1991
|
8 | AIED
|
| 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
|
9 | AIED
|
| 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
|
10 | AIED
|
| 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
|
11 | AIED
|
| Aland eye disease (syndrome Forsius-Eriksson).
|
| Waardenburg PJ, et al.
|
| Prog Neurol Ophthalmic 2 : 336-339. 1969
|
12 | AIED
|
| 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
|