×
About 2,275 results

ALLMedicine™ Albinism Center

Research & Reviews  1,115 results

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...

Hermansky-Pudlak Syndrome - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/hps/

Mar 17th, 2021 - Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, or immunodeficiency. Ocular findings include reduced iris pigment with iris tra...

Reactions to and explanations for the birth of a baby with albinism: a qualitative stud...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7907870
BMJ Open; Taylor J, Bradbury-Jones C et. al.

Feb 24th, 2021 - Babies born with the genetic condition albinism lack pigment in their hair, skin and eyes due to compromised melanin production. This leads to poor vision and the risk of early death due to skin cancer. In Uganda, one of the least developed countr...

Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albin...
https://doi.org/10.1080/13816810.2021.1881979
Ophthalmic Genetics; Kessel L, Kjer B et. al.

Feb 22nd, 2021 - The study aimed to describe genotype-phenotype associations in patients with oculocutaneous and ocular-only albinism and to evaluate a set of diagnostic criteria proposed recently by Kruijt et al. Genotype-phenotype associations in patients with a...

Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase g...
https://doi.org/10.1080/13816810.2021.1888129
Ophthalmic Genetics; Mendez R, Iqbal S et. al.

Feb 18th, 2021 - Background: Oculocutaneous albinism (OCA) is a Mendelian disorder characterized by hypopigmentation of the skin, hair, and eyes, hypoplastic fovea, and low vision, known to be caused by mutations in the Tyrosinase (TYR) gene. Among the known TYR v...

see more →

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...

see more →

Clinicaltrials.gov  1,133 results

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...

Hermansky-Pudlak Syndrome - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/hps/

Mar 17th, 2021 - Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, or immunodeficiency. Ocular findings include reduced iris pigment with iris tra...

Reactions to and explanations for the birth of a baby with albinism: a qualitative stud...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7907870
BMJ Open; Taylor J, Bradbury-Jones C et. al.

Feb 24th, 2021 - Babies born with the genetic condition albinism lack pigment in their hair, skin and eyes due to compromised melanin production. This leads to poor vision and the risk of early death due to skin cancer. In Uganda, one of the least developed countr...

Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albin...
https://doi.org/10.1080/13816810.2021.1881979
Ophthalmic Genetics; Kessel L, Kjer B et. al.

Feb 22nd, 2021 - The study aimed to describe genotype-phenotype associations in patients with oculocutaneous and ocular-only albinism and to evaluate a set of diagnostic criteria proposed recently by Kruijt et al. Genotype-phenotype associations in patients with a...

Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase g...
https://doi.org/10.1080/13816810.2021.1888129
Ophthalmic Genetics; Mendez R, Iqbal S et. al.

Feb 18th, 2021 - Background: Oculocutaneous albinism (OCA) is a Mendelian disorder characterized by hypopigmentation of the skin, hair, and eyes, hypoplastic fovea, and low vision, known to be caused by mutations in the Tyrosinase (TYR) gene. Among the known TYR v...

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.

see more →

Patient Education  7 results see all →