Results 141 to 150 of about 6,439 (248)

Clinical utility gene card for: Oculocutaneous albinism

, 2014
Karen Grønskov, Karen Brøndum‐Nielsen, Birgit Lorenz, Markus N. Preising   +3 more
openalex   +2 more sources

Oculocutaneous albinism: the neurological, behavioral, and neuro-ophthalmological perspective. [PDF]

Eur J Pediatr, 2023
Galli J, Loi E, Dusi L, Pasini N, Rossi A, Scaglioni V, Mauri L, Fazzi E.   +7 more
europepmc   +1 more source

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

The ethnic profile of patients with birthmarks reveals interaction of germline and postzygotic genetics [PDF]

, 2017
Kinsler, VA, Polubothu, S
core   +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

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

Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B. [PDF]

Am J Hum Genet, 2023
Loftus SK, Gillis MF, Lundh L, Baxter LL, Wedel JC, Watkins-Chow DE, Donovan FX, NISC Comparative Sequencing Program, Sergeev YV, Oetting WS, Pavan WJ, Adams DR.   +11 more
europepmc   +1 more source

Biology and genetics of oculocutaneous albinism and vitiligo – common pigmentation disorders in southern Africa

, 2013
Prashiela Manga, Robyn Kerr, Michèle Ramsay, Jennifer G.R. Kromberg   +3 more
openalex   +1 more source

GP77 Oculocutaneous albinism in a neonate [PDF]

, 2019
Jayasree Kutty, Rukhsana Nazli, N.P.J. Cotton, Rosie Brennan   +3 more
openalex   +1 more source