Results 121 to 130 of about 3,749 (193)

Mutation analysis in a family with oculocutaneous albinism manifesting in the same generation of three branches

, 2007
To elucidate the molecular basis of oculocutaneous albinism with variable expressivity in a family from The Netherlands in which no consanguinity was reported. Three affected family members were screened for mutations in tyrosinase (TYR) and the pink-eye-
Plomp, Astrid S., de Jong, Paulus T.V.M., Forster, Hedwig, de Jong, Paulus T. V. M., Lorenz, Birgit, Preising, Markus N., Tan, H.   +6 more
core  

Cataract surgery with implantation of small aperture acrylic hydrophobic IOL to reduce photophobia in a patient affected by oculocutaneous albinism. [PDF]

Am J Ophthalmol Case Rep
Mularoni A, Mularoni K, Gaudenzi D, Mussoni G, Ravagli V, Gaudenzi F, Forlini M, Mautone L.   +7 more
europepmc   +1 more source

A Dosage-Dependent Dominant-Negative Mechanism of SLC45A2(W74R) in Autosomal Dominant Oculocutaneous Albinism Revealed by Zebrafish Modeling. [PDF]

Transl Vis Sci Technol
Surl D, Choi TI, Park JW, Don DW, Kim TY, Thomas MG, Park JS, Wei X, Bae YK, Han J, Kim CH.   +10 more
europepmc   +1 more source

Trichilemmal Carcinoma in a Patient With Oculocutaneous Albinism. [PDF]

Cureus
Theriot T, Joseph JM, Falgout L, Haas C.
europepmc   +1 more source

Genetic Diagnosis of Oculocutaneous Albinism Type 1A: A Novel <i>TYR</i> Variant. [PDF]

Clin Case Rep
Shihab RN, Hamid RT, Neissi M, Mohammadi-Asl J, Sheikh-Hosseini M, Nekouei E.   +5 more
europepmc   +1 more source

Generation and ophthalmological characterization of oculocutaneous albinism type 1 pig models by selection-free genome editing. [PDF]

Sci Rep
Oh D, Seok C, Park HW, Park S, Lee J, Choi H, Jawad A, Ham J, Jang H, Lee SC, Oh BC, Moon C, Park KH, Hyun SH, Kim D.   +14 more
europepmc   +1 more source

Genetic analyses of Vietnamese patients with oculocutaneous albinism. [PDF]

J Clin Lab Anal, 2022
Thuong MTH, Anh LTL, Nhung VP, Ngoc TTB, Lan HT, Phuong DK, Ha NH, Van Hai N, Ton ND.   +8 more
europepmc   +1 more source

Oculocutaneous albinism in a patient with an <i>OCA2</i> variant: molecular and clinical insights. [PDF]

Asian Biomed (Res Rev News)
Neissi M, Al-Mozani SK, Al-Zaalan AR, Sanavi Shiri S, Sheikh-Hosseini M, Al-Badran AI, Nekouei E.   +6 more
europepmc   +1 more source

Identification of a RAB32-LRMDA-Commander membrane trafficking complex reveals the molecular mechanism of human oculocutaneous albinism type 7. [PDF]

Nat Commun
Butkovič R, Healy MD, de Heus C, Walker AP, Beyers W, McNally KE, Lewis PA, Heesom KJ, Liv N, Klumperman J, Di Pietro S, Collins BM, Cullen PJ.   +12 more
europepmc   +2 more sources

Low-vision intervention for oculocutaneous albinism in a Tertiary Eye Care Hospital in India. [PDF]

Saudi J Ophthalmol, 2023
Gopalakrishnan S, Negiloni K, Suganthan RV, Velu S, Raman R.   +4 more
europepmc   +1 more source