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About 2,119 results

ALLMedicine Albinism Center

Research & Reviews  1,019 results

Altered visual population receptive fields in human albinism.
https://doi.org/10.1016/j.cortex.2020.03.016
Cortex; a Journal Devoted to the Study of the Nervous System and Behavior; Alvarez I, Smittenaar R et. al.

Apr 25th, 2020 - Albinism is a congenital disorder where misrouting of the optic nerves at the chiasm gives rise to abnormal visual field representations in occipital cortex. In typical human development, the left occipital cortex receives retinal input predominan...

Hermansky-Pudlak Syndrome.
https://doi.org/10.1055/s-0040-1708088
Seminars in Respiratory and Critical Care Medicine; De Jesus Rojas W, Young LR

Apr 12th, 2020 - Hermansky-Pudlak syndrome (HPS) is a multisystemic autosomal recessive disorder characterized by oculocutaneous albinism, bleeding diathesis, and lethal pulmonary fibrosis (PF) in some HPS subtypes. During middle adulthood, ground-glass opacities,...

Molecular characterization of SLC24A5 variants and evaluation of Nitisinone treatment e...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7269830
Pigment Cell & Melanoma Research REFERENCES; Yousaf S, Sethna S et. al.

Apr 10th, 2020 - Skin pigmentation is a highly heterogeneous trait with diverse consequences worldwide. SLC24A5, encoding a potent K+ -dependent Na+ /Ca2+ exchanger, is among the known color-coding genes that participate in melanogenesis by maintaining pH in melan...

Abnormal insertional pattern of the inferior oblique in four cases of oculocutaneous al...
https://doi.org/10.1016/j.jaapos.2020.01.011
Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus; Sadagopan KA, Hui G et. al.

Apr 7th, 2020 - Abnormal insertional pattern of the inferior oblique in four cases of oculocutaneous albinism and abnormal anterior insertions of horizontal rectus muscles in albinism.|2020|Sadagopan KA,Hui G,Chih-Hao T,Lam D,|

A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism wi...
https://doi.org/10.1080/09537104.2020.1742315
Platelets Michaud V, Fiore M et. al.

Apr 2nd, 2020 - Hermansky-Pudlak syndrome (HPS) is a rare form of syndromic oculocutaneous albinism caused by disorders in lysosome-related organelles. Ten genes are associated with different forms of HPS. HPS type 9 (HPS-9) is caused by biallelic variants of BLO...

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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  1,055 results

Altered visual population receptive fields in human albinism.
https://doi.org/10.1016/j.cortex.2020.03.016
Cortex; a Journal Devoted to the Study of the Nervous System and Behavior; Alvarez I, Smittenaar R et. al.

Apr 25th, 2020 - Albinism is a congenital disorder where misrouting of the optic nerves at the chiasm gives rise to abnormal visual field representations in occipital cortex. In typical human development, the left occipital cortex receives retinal input predominan...

Hermansky-Pudlak Syndrome.
https://doi.org/10.1055/s-0040-1708088
Seminars in Respiratory and Critical Care Medicine; De Jesus Rojas W, Young LR

Apr 12th, 2020 - Hermansky-Pudlak syndrome (HPS) is a multisystemic autosomal recessive disorder characterized by oculocutaneous albinism, bleeding diathesis, and lethal pulmonary fibrosis (PF) in some HPS subtypes. During middle adulthood, ground-glass opacities,...

Molecular characterization of SLC24A5 variants and evaluation of Nitisinone treatment e...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7269830
Pigment Cell & Melanoma Research REFERENCES; Yousaf S, Sethna S et. al.

Apr 10th, 2020 - Skin pigmentation is a highly heterogeneous trait with diverse consequences worldwide. SLC24A5, encoding a potent K+ -dependent Na+ /Ca2+ exchanger, is among the known color-coding genes that participate in melanogenesis by maintaining pH in melan...

Abnormal insertional pattern of the inferior oblique in four cases of oculocutaneous al...
https://doi.org/10.1016/j.jaapos.2020.01.011
Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus; Sadagopan KA, Hui G et. al.

Apr 7th, 2020 - Abnormal insertional pattern of the inferior oblique in four cases of oculocutaneous albinism and abnormal anterior insertions of horizontal rectus muscles in albinism.|2020|Sadagopan KA,Hui G,Chih-Hao T,Lam D,|

A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism wi...
https://doi.org/10.1080/09537104.2020.1742315
Platelets Michaud V, Fiore M et. al.

Apr 2nd, 2020 - Hermansky-Pudlak syndrome (HPS) is a rare form of syndromic oculocutaneous albinism caused by disorders in lysosome-related organelles. Ten genes are associated with different forms of HPS. HPS type 9 (HPS-9) is caused by biallelic variants of BLO...

see more →

News  37 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...

African Women With Albinism Vow to Fight on After Kilimanjaro Climb
https://www.medscape.com/viewarticle/903192

Oct 9th, 2018 - NAIROBI (Thomson Reuters Foundation) - Six African women with albinism who made an attempt on the continent's highest peak, Mount Kilimanjaro, said on Tuesday the trek was just the beginning of efforts to raise awareness and dispel negative images...

FDA OKs First Artificial Iris for Aniridia, Other Iris Defects
https://www.medscape.com/viewarticle/897386

May 29th, 2018 - The US Food and Drug Administration (FDA) has approved the first artificial iris for use in adults and children with congenital aniridia or iris defects due to other reasons or conditions, such as albinism, traumatic injury, or surgical removal du...

'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...

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Patient Education  7 results see all →