Results 81 to 90 of about 5,505 (212)

گزارش اولين مورد سندرم فاميلی آلبينيسم چشمی ـ پوستی نوزادی در همراهی با سندرم [PDF]

, 2007
مقدمه: آلبينيسم شامل گروهی از شرايط بالينی می‌باشد که به صورت ارثی منتقل می‌گردند. در مبتلايان به بيماری، رنگدانه ملانين در چشم، پوست و مو، کم است يا وجود ندارد.
خالصی, نسرین, صالحی, فرود, کشاورز, کامبیز   +2 more
core  

Whole genome sequencing for mutation discovery in a single case of lysosomal storage disease (MPS type 1) in the dog. [PDF]

, 2020
Mucopolysaccharidosis (MPS) is a metabolic storage disorder caused by the deficiency of any lysosomal enzyme required for the breakdown of glycosaminoglycans.
Aguilar, Miriam, Ancona, Devin, Bannasch, Danika, Brown, C. Titus, Cowan, Tina, Knipe, Marguerite, Mansour, Tamer, Moore, Bret, Seada, Haitham, Sebbag, Lionel, Sebbag, Lionel, Thomasy, Sara, Vernau, Karen, Woolard, Kevin   +13 more
core   +3 more sources

Albinism – symptomatology, aetiology, and therapy

Pediatria Polska
Albinism is a rare, genetically determined disorder of melanogenesis resulting in a reduction or complete absence of melanin in tissues of ectodermal origin, especially skin, hair, and irises of the eyes.
Beata Chałupczyńska, Elżbieta Ciara, Krystyna H. Chrzanowska, Agnieszka Madej-Pilarczyk   +3 more
doaj   +1 more source

Germline Cancer Susceptibility Variants in Patients With Uveal Melanoma

Pigment Cell &Melanoma Research, Volume 38, Issue 5, September 2025.
Germline exome sequencing of 106 Finnish patients with UM, considered at higher risk for genetic cancer predisposition, identified pathogenic or likely pathogenic variants associated with varying risk of malignancies in 16 patients (15%). Six patients (6%) carried multiple variants and had a median diagnosis age of 51, compared to 60 in the full cohort
Pauliina E. Repo, Eveliina Jakkula, Juho Hiltunen, Heidi Putkuri, Aleksandra Staskiewicz‐Tuikkanen, Reetta‐Stiina Järvinen, Martin Täll, Virpi Raivio, Rana'a T. Al‐Jamal, Tero T. Kivelä, Joni A. Turunen   +10 more
wiley   +1 more source

Oculocutaneous Albinism

Asia-Pacific Journal of Ophthalmology, 2023
Hongfei, Ye, Kerong, Mao, Peiquan, Zhao
openaire   +2 more sources

Automatic Detection of Cone Photoreceptors In Split Detector Adaptive Optics Scanning Light Ophthalmoscope Images [PDF]

, 2016
Quantitative analysis of the cone photoreceptor mosaic in the living retina is potentially useful for early diagnosis and prognosis of many ocular diseases.
Carroll, Joseph, Cooper, Robert F., Cunefare, David, Dubra, Alfredo, Farsiu, Sina, Higgins, Brian P., Katz, David F.   +6 more
core   +2 more sources

Oculocutaneous albinism [PDF]

Archives of Disease in Childhood, 1999
S, Biswas, I C, Lloyd
openaire   +2 more sources

Rehabilitación visual en albinismo. Revisión bibliográfica [PDF]

, 2019
El albinismo comprende un grupo de enfermedades hereditarias que se caracterizan por falta o ausencia en la biosíntesis de la melanina. Existen dos grandes tipos: albinismo oculocutáneo con afectación en cabello, piel y ojos, y albinismo ocular, con ...
Novillo Díaz, José Antonio
core   +1 more source

Effectiveness of refractive error correction for people with oculocutaneous albinism in Nepal

Asian Journal of Medical Sciences, 2017
Background: Albinism is commonly associated with high refractive errors, but some clinicians are reluctant to prescribe glasses because reduced vision persists due to additional non-refractive visual problems.
Arjun M Bhari
doaj   +1 more source

Dermatopglyphs in Oculocutaneous Albinism

The Anthropologist, 2006
Oculocutaneous albinism can be defined as a syndrome characterised by inherited lack of pigmentation in skin, hair and eyes, along with weak visual acuity, nystagmus, photophobia and other health complications. 13 individuals were identified to be affected with OCA in 9 families from the population of Kolkata and Howrah cities.
Sudip Datta Banik, D.P. Mukherjee
openaire   +1 more source