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About 2,267 results

ALLMedicine™ Albinism Center

Research & Reviews  1,111 results

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...

Genetic causes of nystagmus, foveal hypoplasia and subnormal visual acuity- other than ...
https://doi.org/10.1080/13816810.2021.1888128
Ophthalmic Genetics; Ehrenberg M, Bagdonite-Bejarano L et. al.

Feb 17th, 2021 - Background: To describe genetic molecular findings in individuals with congenital nystagmus, foveal hypoplasia, and subnormal vision, with normal ocular pigmentation (absence of diffuse transillumination or transparent retinal pigment typical for ...

Perceptual learning improves visual functions in patients with albinistic bilateral amb...
https://doi.org/10.3233/RNN-201043
Restorative Neurology and Neuroscience; Battaglini L, Oletto CM et. al.

Feb 8th, 2021 - Several visual functions are impaired in patients with oculocutaneous albinism (OCA) associated to albinistic bilateral amblyopia (ABA). In this study, we aimed at exploring whether perceptual learning (PL) can improve visual functions in albinism...

Hermansky-Pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease.
https://doi.org/10.1183/16000617.0193-2020
European Respiratory Review : an Official Journal of the ... Yokoyama T, Gochuico BR

Feb 4th, 2021 - Pulmonary fibrosis is a progressive interstitial lung disease of unknown aetiology with a poor prognosis. Studying genetic diseases associated with pulmonary fibrosis provides insights into the pathogenesis of the disease. Hermansky-Pudlak syndrom...

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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  1,129 results

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...

Genetic causes of nystagmus, foveal hypoplasia and subnormal visual acuity- other than ...
https://doi.org/10.1080/13816810.2021.1888128
Ophthalmic Genetics; Ehrenberg M, Bagdonite-Bejarano L et. al.

Feb 17th, 2021 - Background: To describe genetic molecular findings in individuals with congenital nystagmus, foveal hypoplasia, and subnormal vision, with normal ocular pigmentation (absence of diffuse transillumination or transparent retinal pigment typical for ...

Perceptual learning improves visual functions in patients with albinistic bilateral amb...
https://doi.org/10.3233/RNN-201043
Restorative Neurology and Neuroscience; Battaglini L, Oletto CM et. al.

Feb 8th, 2021 - Several visual functions are impaired in patients with oculocutaneous albinism (OCA) associated to albinistic bilateral amblyopia (ABA). In this study, we aimed at exploring whether perceptual learning (PL) can improve visual functions in albinism...

Hermansky-Pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease.
https://doi.org/10.1183/16000617.0193-2020
European Respiratory Review : an Official Journal of the ... Yokoyama T, Gochuico BR

Feb 4th, 2021 - Pulmonary fibrosis is a progressive interstitial lung disease of unknown aetiology with a poor prognosis. Studying genetic diseases associated with pulmonary fibrosis provides insights into the pathogenesis of the disease. Hermansky-Pudlak syndrom...

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 →