×
About 1,458 results

ALLMedicine™ Albinism Center

Research & Reviews  535 results

Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome
https://clinicaltrials.gov/ct2/show/NCT00001456

Feb 3rd, 2023 - Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disease consisting of oculocutaneous albinism, a platelet storage pool defect and, in some patients, lysosomal accumulation of ceroid lipofuscin. Other manifestations include pulmonary ...

Study of Chediak-Higashi Syndrome
https://clinicaltrials.gov/ct2/show/NCT00005917

Jan 25th, 2023 - Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized in its classical form by oculocutaneous albinism, a bleeding diathesis, recurrent infection due to abnormal neutrophil and natural killer cell function, and often ...

Functional Tests to Resolve Unsolved Rare Diseases. Rares.
https://clinicaltrials.gov/ct2/show/NCT05696912

Jan 25th, 2023 - The main objective is the improvement of the diagnosis of rare genetic diseases. The investigator lab is expert for diagnosis of some rare diseases such as neurodevelopmental disorder, albinism, cystic fibrosis and congenital heart defect. Actuall...

Cell Collection to Study Eye Diseases
https://clinicaltrials.gov/ct2/show/NCT01432847

Jan 25th, 2023 - This study will establish a repository of biospecimens to generate induced pluripotent stem (iPS) cells, which will be used to determine molecular mechanisms for potentially blinding eye diseases including but not limited to: Best Vitelliform Dyst...

Mutation of GPR143 Associated With Ocular Albinism Type 1, Intellectual Disability, and...
https://doi.org/10.1097/PRA.0000000000000685
Journal of Psychiatric Practice; Arcadepani FB, Gadelha A et. al.

Jan 18th, 2023 - Copy number variations, which manifest primarily as deletions and duplications, contribute significantly to the genetic risk of schizophrenia. Specific syndromes associated with copy number variations, exemplified by the 22q11 deletion syndrome, c...

see more →

Clinicaltrials.gov  19 results

Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome
https://clinicaltrials.gov/ct2/show/NCT00001456

Feb 3rd, 2023 - Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disease consisting of oculocutaneous albinism, a platelet storage pool defect and, in some patients, lysosomal accumulation of ceroid lipofuscin. Other manifestations include pulmonary ...

Cell Collection to Study Eye Diseases
https://clinicaltrials.gov/ct2/show/NCT01432847

Jan 25th, 2023 - This study will establish a repository of biospecimens to generate induced pluripotent stem (iPS) cells, which will be used to determine molecular mechanisms for potentially blinding eye diseases including but not limited to: Best Vitelliform Dyst...

Study of Chediak-Higashi Syndrome
https://clinicaltrials.gov/ct2/show/NCT00005917

Jan 25th, 2023 - Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized in its classical form by oculocutaneous albinism, a bleeding diathesis, recurrent infection due to abnormal neutrophil and natural killer cell function, and often ...

Functional Tests to Resolve Unsolved Rare Diseases. Rares.
https://clinicaltrials.gov/ct2/show/NCT05696912

Jan 25th, 2023 - The main objective is the improvement of the diagnosis of rare genetic diseases. The investigator lab is expert for diagnosis of some rare diseases such as neurodevelopmental disorder, albinism, cystic fibrosis and congenital heart defect. Actuall...

NGS Panel of Incomplete Forms of Ocular Albinism
https://clinicaltrials.gov/ct2/show/NCT04495218

Dec 8th, 2022 - Scientific context : Albinism is clinically characterised by cutaneous hypopigmentation and ophthalmologic features. These features common to all forms of albinism are foveal hypoplasia, misrouting of the optic nerves at the chiasm, retinal hypopi...

see more →

News  19 results

CORRECTED-FEATURE-As Malawi issues IDs for children, privacy concerns rise
https://www.reuters.com/article/malawi-tech-biometrics/corrected-feature-as-malawi-issues-ids-for-children-privacy-concerns-rise-idUSL8N32P0CF

Dec 30th, 2022 - (Corrects pronoun to ‘she’ in paragraph 14) Malawi pushes to register 8.4 million under-16s IDs essential for education and healthcare access Lack of data protection law raises privacy fears By Charles Pensulo MWANZA, Malawi, Dec 27 (Thomson Reute...

Researchers Pinpoint Causes of Foveal Hypoplasia
https://www.medscape.com/viewarticle/972135

Apr 14th, 2022 - Newly published insights into the causes of foveal hypoplasia may allow clinicians to make quicker and more accurate diagnoses of the underlying conditions, in some cases preventing complications. Using genetic tests and optical coherence tomograp...

Updates and Advances in Basal Cell Carcinoma
https://www.onclive.com/view/updates-and-advances-in-basal-cell-carcinoma

Dec 18th, 2020 - Although basal cell carcinoma (BCC) generally has a good prognosis, improving tolerance to targeted Hedgehog (HH) inhibitors and optimizing second-line treatment with immune checkpoint inhibitors are important for the small subset of patients who ...

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 awareness goes global in dermatologists’ nonprofit work
https://www.mdedge.com/dermatology/article/214220/pigmentation-disorders/albinism-awareness-goes-global-dermatologists
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.

see more →

Patient Education  10 results see all →