Results 131 to 140 of about 13,993 (190)

Pigment loss and pseudo-albinism in Birdshot chorioretinitis. [PDF]

Eye (Lond)
Vienne-Jumeau A, Memmi C, Kecili S, Loeliger J, Thorne JE, Monnet D, Brézin AP.   +6 more
europepmc   +1 more source

Retinal Detachment in the eye of Albino - A review. [PDF]

Rom J Ophthalmol
Marshood AA.
europepmc   +1 more source

Haplotype-Based Analysis of OCA2 Variants in Oculocutaneous Albinism. [PDF]

Pigment Cell Melanoma Res
Gillis MF, Ames MR, Lundh L, Gotea V, Elnitski L, Donovan F, NISC Comparative Sequencing Program, Adeyemo A, Rotimi C, Brooks B, Zein W, Gahl W, Oetting WS, Adams DR, Loftus SK.   +14 more
europepmc   +1 more source

Functional characterization of Griscelli syndrome type 2 sine albinism in Japanese patients. [PDF]

J Hum Immun
Tanaka T, Sugawara A, Yasuoka R, Sakaguchi K, Natsume O, Haga K, Maruta Y, Kobayashi A, Sato T, Saito E, Minakawa S, Hirata Y, Shibata H, Yasumi T, Shimizu M, Kanegane H, Kudo K, Fukuda M, Teui K.   +18 more
europepmc   +1 more source

Sentinel Nystagmus: The Key to Identifying Type II Oculocutaneous Albinism (OCA2) in the Pediatric Setting. [PDF]

Case Rep Pediatr
Niknam J, Petrosyan A, Agustin V, Shoubaki A.   +3 more
europepmc   +1 more source

Reply to: A Lethal Progressive Neuroinflammation Disguised as MOGAD Revealing a Final Diagnosis of Griscelli Syndrome: Regarding: MOGAD is the Most Common Cause of Isolated Optic Neuritis in Children. [PDF]

Ann Clin Transl Neurol
Aduru C, Chandrasekar A, Blasingame K, Rosen J, Levine JM, Salazar K, Chilakapati M, Foroozan R, Adeseye V, Yarimi JM, Shukla N, Lotze TE, Fisher KS, Sandweiss AJ.   +13 more
europepmc   +1 more source

Griscelli syndrome type 2: A rare case report of pediatric immunodeficiency and neurological implications. [PDF]

Medicine (Baltimore)
Abubakir M, Abdul Rahman N, Hamza A, Haj Kasem S, Khayata MA, Kouja D.   +5 more
europepmc   +1 more source

Skin health and climate change in Africa: an overlooked intersection and call for action. [PDF]

Int Health
Cole-Adeife OM, Akinkugbe AO, Ayanlowo OO, Akingbola A, Onunu AN.   +4 more
europepmc   +1 more source

A look inside Chediak-Higashi syndrome: a microscopic view of the disorder. [PDF]

Pan Afr Med J
Naseri S, Shukla S.
europepmc   +1 more source