Results 111 to 120 of about 7,578 (154)

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

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

Cureus
Theriot T, Joseph JM, Falgout L, Haas C.
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

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

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

Typical presentation of autosomal recessive oculocutaneous albinism in two siblings. [PDF]

GMS Ophthalmol Cases
Nishant P, Aftab N, Saha B, Raj A.
europepmc   +1 more source

Alterations of Photoreceptor Synaptic Ribbons in the Retina of a Human Patient With Oculocutaneous Albinism Type 1 (OCA1). [PDF]

Invest Ophthalmol Vis Sci
Köller AF, Käsmann-Kellner B, Benseler F, Tschernig T, Löw U, Maxeiner S, Schwarz K, Brose N, Geerling G, Seitz B, Schmitz F.   +10 more
europepmc   +1 more source

Clinico-pathologic profile of skin cancers in oculocutaneous albinism at Universitas Academic Hospital. [PDF]

Health SA
Makuru MH, Maruma F, Ngwenya E, Mponda K.   +3 more
europepmc   +1 more source