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In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases

Autor: Cornelis, S.S., Bax, N.M., Zernant, J., Allikmets, R., Fritsche, L.G., Dunnen, J.T. den, Ajmal, M., Hoyng, C.B., Cremers, F.P.M.

Publikováno v: Human Mutation, 38(4), 400-408
Human Mutation, 38, 4, pp. 400-408
Human Mutation, 38, 400-408

Item does not contain fulltext Variants in the ABCA4 gene are associated with a spectrum of inherited retinal diseases (IRDs), most prominently with autosomal recessive (ar) Stargardt disease (STGD1) and ar cone-rod dystrophy. The clinical outcome to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::a774646dd94081e349c041306906c987
https://doi.org/10.1002/humu.23165

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Clinical and molecular characteristics of childhood-onset Stargardt disease

Autor: Moore, Anthony, Fujinami, K, Zernant, J, Chana, RK, Wright, GA, Tsunoda, K, Ozawa, Y, Tsubota, K, Robson, AG, Holder, GE, Allikmets, R

Publikováno v: Moore, Anthony; Fujinami, K; Zernant, J; Chana, RK; Wright, GA; Tsunoda, K; et al.(2015). Clinical and molecular characteristics of childhood-onset Stargardt disease.. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/8rf7t7jg

To describe the clinical and molecular characteristics of patients with childhood-onset Stargardt disease (STGD).Retrospective case series.Forty-two patients who were diagnosed with STGD in childhood at a single institution between January 2001 and J

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::90140e135e474a7ccb637e5fde0f6f8f
http://www.escholarship.org/uc/item/8rf7t7jg

Cone-rod dystrophy phenotype associated with ABCA4 (ABCR) gene mutation

Autor: TESTA, Francesco, SIMONELLI, Francesca, Zernant J, Nesti A, Della Corte M, Rinaldi E, Allikmets R.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3977::7062be03962bbf4b7e29bbe9407b7cd3
http://hdl.handle.net/11591/213447