Ana Fakin

Ana Fakin

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Ana Fakin

Ana Fakin

Publications by authors named "Ana Fakin"

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16Publications

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Clinical and Haplotypic Variability of Slovenian Patients Homozygous for the c. 11864G>A Nonsense Mutation.

Genes (Basel) 2019 12 5;10(12). Epub 2019 Dec 5.

Department of Molecular Genetics, Institute of Pathology, Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia.

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http://dx.doi.org/10.3390/genes10121015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6947556PMC
December 2019

Double Hyperautofluorescent Rings in Patients with USH2A-Retinopathy.

Genes (Basel) 2019 11 21;10(12). Epub 2019 Nov 21.

Eye Hospital, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.

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http://dx.doi.org/10.3390/genes10120956DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6947471PMC
November 2019

Full-field electroretinography, visual acuity and visual fields in Usher syndrome: a multicentre European study.

Doc Ophthalmol 2019 10 2;139(2):151-160. Epub 2019 Jul 2.

Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Elfriede-Aulhorn-Str. 7, 72076, Tuebingen, Germany.

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http://dx.doi.org/10.1007/s10633-019-09704-8DOI Listing
October 2019

The incidence of giant cell arteritis in Slovenia.

Clin Rheumatol 2019 Feb 30;38(2):285-290. Epub 2018 Jul 30.

Department of Rheumatology, University Medical Centre Ljubljana, Vodnikova cesta 62, 1000, Ljubljana, Slovenia.

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http://dx.doi.org/10.1007/s10067-018-4236-6DOI Listing
February 2019

Usher Syndrome and Color Vision.

Curr Eye Res 2018 10 30;43(10):1295-1301. Epub 2018 Jul 30.

a Centre for Ophthalmology, Institute for Ophthalmic Research , University of Tuebingen , Tuebingen , Germany.

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http://dx.doi.org/10.1080/02713683.2018.1501804DOI Listing
October 2018

Frequency of IWOS Suggestive Ocular Signs in Slovenian Uveitis Patients with Confirmed Pulmonary Sarcoidosis.

Ocul Immunol Inflamm 2016 Dec 8;24(6):660-664. Epub 2015 Dec 8.

a Eye Hospital, University Medical Centre , Ljubljana , Slovenia.

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http://dx.doi.org/10.3109/09273948.2015.1063669DOI Listing
December 2016

Clinical and genetic heterogeneity in Slovenian patients with BEST disease.

Acta Ophthalmol 2016 Dec 24;94(8):e786-e794. Epub 2016 Oct 24.

Eye Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.

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http://dx.doi.org/10.1111/aos.13202DOI Listing
December 2016

The Effect on Retinal Structure and Function of 15 Specific ABCA4 Mutations: A Detailed Examination of 82 Hemizygous Patients.

Invest Ophthalmol Vis Sci 2016 Nov;57(14):5963-5973

Institute of Ophthalmology, University College London, London, United Kingdom 2Moorfields Eye Hospital, London, United Kingdom.

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http://dx.doi.org/10.1167/iovs.16-20446DOI Listing
November 2016

Phenotype and Progression of Retinal Degeneration Associated With Nullizigosity of ABCA4.

Invest Ophthalmol Vis Sci 2016 09;57(11):4668-78

UCL Institute of Ophthalmology, London, United Kingdom 2Moorfields Eye Hospital, London, United Kingdom.

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http://dx.doi.org/10.1167/iovs.16-19829DOI Listing
September 2016

Clinical and electrophysiology findings in Slovene patients with Leber hereditary optic neuropathy.

Doc Ophthalmol 2015 Jun 19;130(3):179-87. Epub 2015 Feb 19.

Eye Hospital, University Medical Centre, Grablovičeva 46, 1000, Ljubljana, Slovenia,

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http://dx.doi.org/10.1007/s10633-015-9489-7DOI Listing
June 2015

Combination of retinitis pigmentosa and hearing loss caused by a novel mutation in PRPH2 and a known mutation in GJB2: importance for differential diagnosis of Usher syndrome.

Vision Res 2012 Dec 25;75:71-6. Epub 2012 Jul 25.

Eye Hospital, University Medical Centre Ljubljana, Grablovičeva 46, 1000 Ljubljana, Slovenia.

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http://dx.doi.org/10.1016/j.visres.2012.07.011DOI Listing
December 2012

Fundus autofluorescence and optical coherence tomography in relation to visual function in Usher syndrome type 1 and 2.

Vision Res 2012 Dec 18;75:60-70. Epub 2012 Sep 18.

Eye Hospital, University Medical Centre Ljubljana, Grablovičeva 46, 1000 Ljubljana, Slovenia.

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http://dx.doi.org/10.1016/j.visres.2012.08.017DOI Listing
December 2012