Human Genome Epidemiology Literature Finder
Records 1 - 6 (of 6 Records) |
Query Trace: OA1[original query] |
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Pigmentation-related genes and their implication in malignant melanoma susceptibility. Experimental dermatology 2009 Mar . Fernandez LP, Milne RL, Pita G, Floristan U, Sendagorta E, Feito M, Avilés JA, Martin-Gonzalez M, Lázaro P, Benítez J, Ribas G |
Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism. Molecular vision 2011 17 . Preising MN, Forster H, Gonser M, Lorenz B |
SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies. Gene 2014 Jan 533 (1): 398-402. Mauri Lucia, Barone Luca, Al Oum Muna, Del Longo Alessandra, Piozzi Elena, Manfredini Emanuela, Stanzial Franco, Benedicenti Francesco, Penco Silvana, Patrosso Maria Cristi |
GNAI3: Another Candidate Gene to Screen in Persons with Ocular Albinism. PloS one 2016 11 (9): e0162273. Young Alejandra, Dandekar Uma, Pan Calvin, Sader Avery, Zheng Jie J, Lewis Richard A, Farber Debora |
Clinical evaluation and molecular screening of a large consecutive series of albino patients. Journal of human genetics 2016 Oct . Mauri Lucia, Manfredini Emanuela, Del Longo Alessandra, Veniani Emanuela, Scarcello Manuela, Terrana Roberta, Radaelli Adriano Egidio, Calò Donata, Mingoia Giuseppe, Rossetti Antonella, Marsico Giovanni, Mazza Marco, Gesu Giovanni Pietro, Cristina Patrosso Maria, Penco Silvana, Piozzi Elena, Primignani Pao |
Clinical albinism score, presence of nystagmus and optic nerves defects are correlated with visual outcome in patients with oculocutaneous albinism. Ophthalmic genetics 2021 7 42 (5): 539-552. Dumitrescu Alina V, Tran Johnny, Pfeifer Wanda, Bhattarai Sajag V, Kemerley Andrew, Dunn Taylor V, Wang Kai, Scheetz Tod E, Drack Arle |
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