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About 2,291 results

ALLMedicine™ Albinism Center

Research & Reviews  1,123 results

Genetics of non-syndromic and syndromic oculocutaneous albinism in human and mouse.
https://doi.org/10.1111/pcmr.12982
Pigment Cell & Melanoma Research; Fernández A, Hayashi M et. al.

May 7th, 2021 - Oculocutaneous albinism (OCA) is the most frequent presentation of albinism, a heterogeneous rare genetic condition generally associated with variable alterations in pigmentation and with a profound visual impairment. There are non-syndromic and s...

Foveal avascular zone in oculocutaneous albinism.
https://doi.org/10.1136/bcr-2020-240208
BMJ Case Reports; Mansour HA, Uwaydat S et. al.

May 5th, 2021 - Optical coherence tomography angiography imaging in two patients with oculocutaneous albinism, one with severe nystagmus, showed persistence of both the superficial and the deep retinal capillary plexus adding another vascular feature to the fovea...

Hermansky-Pudlak syndrome: Five Chinese patients with novel variants in HPS1 and HPS6.
https://doi.org/10.1016/j.ejmg.2021.104228
European Journal of Medical Genetics; Wang C, Shi P et. al.

Apr 20th, 2021 - Hermansky-Pudlak syndrome is a rare, autosomal, recessive syndromic form of albinism characterized by oculocutaneous albinism, bleeding diathesis, and a series of clinical complications. It is rarely reported in China, even with its large populati...

Identification of a novel GPR143 mutation in a large Chinese family with isolated fovea...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8011130
BMC Ophthalmology; Mao X, Chen M et. al.

Mar 31st, 2021 - Pathogenic variants of G-protein coupled receptor 143 (GPR143) gene often leads to ocular albinism type I (OA1) characterized by nystagmus, iris and fundus hypopigmentation, and foveal hypoplasia. In this study, we identified a novel hemizygous no...

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Guidelines  1 results

Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors
https://www.sciencedirect.com/science/article/pii/S0365059619300583?via%3Dihub
An Bras Dermatology; Marcon CR,et al

Sep 29th, 2019 - Oculocutaneous albinism is an autosomal recessive disease caused by the complete absence or decrease of melanin biosynthesis in melanocytes. Due to the reduction or absence of melanin, albinos are highly susceptible to the harmful effects of ultra...

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Clinicaltrials.gov  1,141 results

Genetics of non-syndromic and syndromic oculocutaneous albinism in human and mouse.
https://doi.org/10.1111/pcmr.12982
Pigment Cell & Melanoma Research; Fernández A, Hayashi M et. al.

May 7th, 2021 - Oculocutaneous albinism (OCA) is the most frequent presentation of albinism, a heterogeneous rare genetic condition generally associated with variable alterations in pigmentation and with a profound visual impairment. There are non-syndromic and s...

Foveal avascular zone in oculocutaneous albinism.
https://doi.org/10.1136/bcr-2020-240208
BMJ Case Reports; Mansour HA, Uwaydat S et. al.

May 5th, 2021 - Optical coherence tomography angiography imaging in two patients with oculocutaneous albinism, one with severe nystagmus, showed persistence of both the superficial and the deep retinal capillary plexus adding another vascular feature to the fovea...

Hermansky-Pudlak syndrome: Five Chinese patients with novel variants in HPS1 and HPS6.
https://doi.org/10.1016/j.ejmg.2021.104228
European Journal of Medical Genetics; Wang C, Shi P et. al.

Apr 20th, 2021 - Hermansky-Pudlak syndrome is a rare, autosomal, recessive syndromic form of albinism characterized by oculocutaneous albinism, bleeding diathesis, and a series of clinical complications. It is rarely reported in China, even with its large populati...

Identification of a novel GPR143 mutation in a large Chinese family with isolated fovea...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8011130
BMC Ophthalmology; Mao X, Chen M et. al.

Mar 31st, 2021 - Pathogenic variants of G-protein coupled receptor 143 (GPR143) gene often leads to ocular albinism type I (OA1) characterized by nystagmus, iris and fundus hypopigmentation, and foveal hypoplasia. In this study, we identified a novel hemizygous no...

see more →

News  19 results

Albinism awareness goes global in dermatologists’ nonprofit work
https://www.mdedge.com/dermatology/article/214220/pigmentation-disorders/albinism-awareness-goes-global-dermatologists?channel=27980
Kari Oakes

Dec 12th, 2019 - A dermatologist-led nonprofit organization has entered into a partnership with the United Nations to achieve global progress towards greater inclusivity for people with albinism. Courtesy NYDG Foundation Ms.

Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors
https://www.sciencedirect.com/science/article/pii/S0365059619300583?via%3Dihub
An Bras Dermatology; Marcon CR,et al

Sep 29th, 2019 - Oculocutaneous albinism is an autosomal recessive disease caused by the complete absence or decrease of melanin biosynthesis in melanocytes. Due to the reduction or absence of melanin, albinos are highly susceptible to the harmful effects of ultra...

'Golden' Girl With Albinism Shines as Kenya's Top Student
https://www.medscape.com/viewarticle/889786

Dec 10th, 2017 - NAIROBI (Thomson Reuters Foundation) - Harrison Tanga knew that something was wrong as he walked into the labor ward in western Kenya to meet his newborn child. "I could see nurses whisper amongst themselves as I passed by," he told the Thomson Re...

Hereditary Nonmelanoma Skin Cancer
https://www.mdedge.com/dermatology/article/57562/melanoma/hereditary-nonmelanoma-skin-cancer

Dec 1st, 2012 - Vasiliki Nikolaou, MD, Alexander J. Stratigos, MD, and Hensin Tsao, MD, PhD Cutaneous basal and squamous cell carcinomas are among the most frequent malignancies in the white population, with the annual incidence estimates ranging from 1 million t.

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Patient Education  7 results see all →