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About 2,151 results

ALLMedicine™ Albinism Center

Research & Reviews  1,057 results

Ultra-widefield Fundus Image in Oculocutaneous Albinism.
https://doi.org/10.1001/jamaophthalmol.2020.0864
JAMA Ophthalmology; Padungkiatsagul T, Leishangthem L et. al.

Sep 10th, 2020 - Ultra-widefield Fundus Image in Oculocutaneous Albinism.|2020|Padungkiatsagul T,Leishangthem L,Moss HE,|

Retinal Vasoproliferative Tumor in Ocular Albinism.
https://doi.org/10.12659/AJCR.925926
The American Journal of Case Reports; Alsakran WA, Almadhi NH et. al.

Sep 8th, 2020 - BACKGROUND Retinal vasoproliferative tumor (VPT) is a type of ocular vascular tumor that commonly occurs idiopathically and can be associated with secondary ocular diseases. Ocular albinism is an X-linked inherited disease and distinguished from o...

A founder RAB27A variant causes Griscelli syndrome type 2 with phenotypic heterogeneity...
https://doi.org/10.1002/ajmg.a.61829
American Journal of Medical Genetics. Part A REFERENCES; Al-Sulaiman R, Othman A et. al.

Aug 27th, 2020 - Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic variants in the RAB27A gene and characterized by partial albinism, immunodeficiency, and occasional hematological and neurological involvement. We reviewed...

Pseudo-Gaze Deviation Resulting From Positive Angle Kappa and Esotropia.
https://doi.org/10.1097/WNO.0000000000001068
Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society; Rateaux M, Espinasse-Berrod MA et. al.

Aug 24th, 2020 - A 6-year-old boy was referred for constant right gaze deviation. Rather than a gaze deviation, he constantly seemed to look on the left side of any displayed target. Examination revealed the association of a highly positive angle Kappa and an esot...

Ocular findings of albinism in DYRK1A-related intellectual disability syndrome.
https://doi.org/10.1080/13816810.2020.1814349
Ophthalmic Genetics; Ernst J, Alabek ML et. al.

Aug 23rd, 2020 - Pathogenic variants in DYRK1A are associated with DYRK1A-related intellectual disability syndrome (DIDS). Common features of this diagnosis include microcephaly, intellectual disability, speech impairment, and distinct facial features. Reported oc...

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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  1,071 results

Ultra-widefield Fundus Image in Oculocutaneous Albinism.
https://doi.org/10.1001/jamaophthalmol.2020.0864
JAMA Ophthalmology; Padungkiatsagul T, Leishangthem L et. al.

Sep 10th, 2020 - Ultra-widefield Fundus Image in Oculocutaneous Albinism.|2020|Padungkiatsagul T,Leishangthem L,Moss HE,|

Retinal Vasoproliferative Tumor in Ocular Albinism.
https://doi.org/10.12659/AJCR.925926
The American Journal of Case Reports; Alsakran WA, Almadhi NH et. al.

Sep 8th, 2020 - BACKGROUND Retinal vasoproliferative tumor (VPT) is a type of ocular vascular tumor that commonly occurs idiopathically and can be associated with secondary ocular diseases. Ocular albinism is an X-linked inherited disease and distinguished from o...

A founder RAB27A variant causes Griscelli syndrome type 2 with phenotypic heterogeneity...
https://doi.org/10.1002/ajmg.a.61829
American Journal of Medical Genetics. Part A REFERENCES; Al-Sulaiman R, Othman A et. al.

Aug 27th, 2020 - Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic variants in the RAB27A gene and characterized by partial albinism, immunodeficiency, and occasional hematological and neurological involvement. We reviewed...

Pseudo-Gaze Deviation Resulting From Positive Angle Kappa and Esotropia.
https://doi.org/10.1097/WNO.0000000000001068
Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society; Rateaux M, Espinasse-Berrod MA et. al.

Aug 24th, 2020 - A 6-year-old boy was referred for constant right gaze deviation. Rather than a gaze deviation, he constantly seemed to look on the left side of any displayed target. Examination revealed the association of a highly positive angle Kappa and an esot...

Ocular findings of albinism in DYRK1A-related intellectual disability syndrome.
https://doi.org/10.1080/13816810.2020.1814349
Ophthalmic Genetics; Ernst J, Alabek ML et. al.

Aug 23rd, 2020 - Pathogenic variants in DYRK1A are associated with DYRK1A-related intellectual disability syndrome (DIDS). Common features of this diagnosis include microcephaly, intellectual disability, speech impairment, and distinct facial features. Reported oc...

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News  15 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 →