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Structural Grading of Foveal Hypoplasia Using Spectral-Domain Optical Coherence Tomography: A Predictor of Visual Acuity?
THOMAS, Mervyn G, KUMAR, Anil, MOHAMMAD, Sarim, PROUDLOCK, Frank A, ENGLE, Elizabeth C, ANDREWS, Caroline, CHAN, Wai-Man, THOMAS, Shery, GOTTLOB, Irene
Published in Ophthalmology (Rochester, Minn.) (01.08.2011)
Published in Ophthalmology (Rochester, Minn.) (01.08.2011)
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Journal Article
Relationship Between Foveal Cone Specialization and Pit Morphology in Albinism
Wilk, Melissa A., McAllister, John T., Cooper, Robert F., Dubis, Adam M., Patitucci, Teresa N., Summerfelt, Phyllis, Anderson, Jennifer L., Stepien, Kimberly E., Costakos, Deborah M., Connor, Thomas B., Wirostko, William J., Chiang, Pei-Wen, Dubra, Alfredo, Curcio, Christine A., Brilliant, Murray H., Summers, C. Gail, Carroll, Joseph
Published in Investigative ophthalmology & visual science (14.07.2014)
Published in Investigative ophthalmology & visual science (14.07.2014)
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Journal Article
The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences
Kruijt, Charlotte C., Gradstein, Libe, Bergen, Arthur A., Florijn, Ralph J., Arveiler, Benoit, Lasseaux, Eulalie, Zanlonghi, Xavier, Bagdonaite-Bejarano, Laura, Fulton, Anne B., Yahalom, Claudia, Blumenfeld, Anat, Perez, Yonatan, Birk, Ohad S., de Wit, Gerard C., Schalij-Delfos, Nicoline E., van Genderen, Maria M.
Published in Investigative ophthalmology & visual science (03.01.2022)
Published in Investigative ophthalmology & visual science (03.01.2022)
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Journal Article
The Henle Fiber Layer in Albinism: Comparison to Normal and Relationship to Outer Nuclear Layer Thickness and Foveal Cone Density
Lee, Daniel J., Woertz, Erica N., Visotcky, Alexis, Wilk, Melissa A., Heitkotter, Heather, Linderman, Rachel E., Tarima, Sergey, Summers, C. Gail, Brooks, Brian P., Brilliant, Murray H., Antony, Bhavna J., Lujan, Brandon J., Carroll, Joseph
Published in Investigative ophthalmology & visual science (01.11.2018)
Published in Investigative ophthalmology & visual science (01.11.2018)
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Journal Article
The molecular landscape of oculocutaneous albinism in India and its therapeutic implications
Kohli, Sudha, Saxena, Renu, Puri, Ratna Dua, Bijarnia Mahay, Sunita, Pal, Swasti, Dubey, Sudhisha, Arora, Veronica, Verma, Ishwar
Published in European journal of human genetics : EJHG (01.10.2024)
Published in European journal of human genetics : EJHG (01.10.2024)
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Journal Article
Early diagnosis of immunodeficient patients with partial albinism: The role of hair study and peripheral blood smear
Tajik, Shaghayegh, Fazlollahi, Mohammad Reza, Alizadeh, Zahra, Badalzadeh, Mohsen, Houshmand, Massoud, Razaghian, Anahita, Bahram, Seiamak, Molitor, Anne, Carapito, Raphael, Shariat, Mansoureh, Hamidieh, Amir Ali, Behniafard, Nasrin, Abdolkarimi, Babak, Rostami, Tahereh, Moin, Mostafa, Pourpak, Zahra
Published in Pediatric allergy and immunology (01.11.2024)
Published in Pediatric allergy and immunology (01.11.2024)
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Journal Article
Quality of life in patients with oculocutaneous albinism
Maia, Marcus, Volpini, Beatrice Mussio Fornazier, Santos, Gabriela Alves dos, Rujula, Maria Josefa Penon
Published in Anais brasileiros de dermatología (01.07.2015)
Published in Anais brasileiros de dermatología (01.07.2015)
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Journal Article
Does levodopa improve vision in albinism? Results of a randomized, controlled clinical trial
Summers, C Gail, Connett, John E, Holleschau, Ann M, Anderson, Jennifer L, De Becker, Inge, McKay, Brian S, Brilliant, Murray H
Published in Clinical & experimental ophthalmology (01.11.2014)
Published in Clinical & experimental ophthalmology (01.11.2014)
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Journal Article
Decreased subfoveal choroidal thickness and failure of emmetropisation in patients with oculocutaneous albinism
Karabas, Levent, Esen, Fehim, Celiker, Hande, Elcioglu, Nursel, Cerman, Eren, Eraslan, Muhsin, Kazokoglu, Haluk, Sahin, Ozlem
Published in British journal of ophthalmology (01.08.2014)
Published in British journal of ophthalmology (01.08.2014)
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Journal Article
Detection of the first OCA6 Italian patient in a large cohort of albino subjects
Veniani, Emanuela, Mauri, Lucia, Manfredini, Emanuela, Gesu, Giovanni P., Patrosso, Maria Cristina, Zelante, Leopoldo, D’Agruma, Leonardo, Del Longo, Alessandra, Mazza, Marco, Piozzi, Elena, Penco, Silvana, Primignani, Paola
Published in Journal of dermatological science (01.03.2016)
Published in Journal of dermatological science (01.03.2016)
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Journal Article
A Comprehensive Analysis Reveals Mutational Spectra and Common Alleles in Chinese Patients with Oculocutaneous Albinism
Wei, Aihua, Wang, Yu, Long, Yan, Wang, Yi, Guo, Xiaoli, Zhou, Zhiyong, Zhu, Wei, Liu, Juntao, Bian, Xuming, Lian, Shi, Li, Wei
Published in Journal of investigative dermatology (01.03.2010)
Published in Journal of investigative dermatology (01.03.2010)
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Journal Article
Identification of OCA2 as a novel locus for the co‐morbidity of asthma‐plus‐eczema
Margaritte‐Jeannin, Patricia, Budu‐Aggrey, Ashley, Ege, Markus, Madore, Anne‐Marie, Linhard, Christophe, Mohamdi, Hamida, Mutius, Erika, Granell, Raquel, Demenais, Florence, Laprise, Catherine, Bouzigon, Emmanuelle, Dizier, Marie‐Hélène
Published in Clinical and experimental allergy (01.01.2022)
Published in Clinical and experimental allergy (01.01.2022)
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Journal Article
Evaluation of the acceptance and efficacy of a bespoke sun protection package for persons with oculocutaneous albinism living in Malawi
Gilaberte, Yolanda, Mzumara, Tenganawo E., Manjolo, Sunganani P., Kaseko, Ndamiwe, Bagazgoitia, Lorea, Fuller, L. Claire, Soto, Mafalda
Published in International journal of dermatology (01.03.2022)
Published in International journal of dermatology (01.03.2022)
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Journal Article
Interactions between Ultraviolet Light and MC1R and OCA2 Variants Are Determinants of Childhood Nevus and Freckle Phenotypes
Barón, Anna E., Asdigian, Nancy L., Gonzalez, Victoria, Aalborg, Jenny, Terzian, Tamara, Stiegmann, Regan A., Torchia, Enrique C., Berwick, Marianne, Dellavalle, Robert P., Morelli, Joseph G., Mokrohisky, Stefan T., Crane, Lori A., Box, Neil F.
Published in Cancer epidemiology, biomarkers & prevention (01.12.2014)
Published in Cancer epidemiology, biomarkers & prevention (01.12.2014)
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Journal Article
Identifying Human Albinism: A Comparison of VEP and fMRI
von dem Hagen, Elisabeth A. H, Hoffmann, Michael B, Morland, Antony B
Published in Investigative ophthalmology & visual science (01.01.2008)
Published in Investigative ophthalmology & visual science (01.01.2008)
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Journal Article
Ocular Straylight in Albinism
Kruijt, Bastiaan, Franssen, Luuk, Prick, Liesbeth J. J. M., van Vliet, Johannes M. J., van den Berg, Thomas J. T. P.
Published in Optometry and vision science (01.05.2011)
Published in Optometry and vision science (01.05.2011)
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Journal Article
A novel iris transillumination grading scale allowing flexible assessment with quantitative image analysis and visual matching
Wang, Chen, Brancusi, Flavia, Valivullah, Zaheer M., Anderson, Michael G., Cunningham, Denise, Hedberg-Buenz, Adam, Power, Bradley, Simeonov, Dimitre, Gahl, William A., Zein, Wadih M., Adams, David R., Brooks, Brian
Published in Ophthalmic genetics (01.01.2018)
Published in Ophthalmic genetics (01.01.2018)
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Journal Article
Refractive errors, visual impairment, and the use of low-vision devices in albinism in Malawi
Schulze Schwering, M., Kumar, N., Bohrmann, D., Msukwa, G., Kalua, K., Kayange, P., Spitzer, M. S.
Published in Graefe's archive for clinical and experimental ophthalmology (01.04.2015)
Published in Graefe's archive for clinical and experimental ophthalmology (01.04.2015)
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Journal Article