Results 121 to 130 of about 6,439 (248)

A Case of Hermansky–Pudlak Syndrome

Journal of Association of Pulmonologist of Tamil Nadu
Hermansky–Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by a triad of oculocutaneous albinism, bleeding diathesis, and lysosomal storage defects. One of the most severe complications of HPS is interstitial lung disease. There
A. Vasudevan, Gayathri Devi Anur Ramakrishnan   +1 more
doaj   +1 more source

MOESM1 of Detection of two non-synonymous SNPs in SLC45A2 on BTA20 as candidate causal mutations for oculocutaneous albinism in Braunvieh cattle

, 2017
Sophie Rothammer, Elisabeth Kunz, Doris Seichter, Stefan Krebs, M. Wassertheurer, Ruedi Fries, Gottfried Brem, Ivica Medugorac   +7 more
openalex   +1 more source

Oculocutaneous Albinism-A review

, 2022
Qurban Ali Shah
openalex   +1 more source

Photoprotective behaviours amongst persons with albinism in Uyo, Nigeria

JEADV Clinical Practice
Background Strict photoprotection is crucial for persons living with albinism (PWAs), especially in Nigeria where the level of solar ultraviolet radiation is particularly high, which further increases the susceptibility of this population to develop ...
Edesiri E. Ighorodje, Charles N. Nga, Chinyere C. Atansi, Omolara Y. Ukpong, Morolayo O. Fabiyi, Udeme‐Abasi U. Nelson   +5 more
doaj   +1 more source

Distribution of oculocutaneous albinism in Zimbabwe. [PDF]

, 1996
Patricia Lund
openalex   +1 more source

Oculocutaneous albinism in a Puerto Rican patient. [PDF]

JAAD Case Rep, 2023
Bindernagel R, Chavda K.
europepmc   +1 more source

MOESM2 of Retrospective analysis in oculocutaneous albinism patients for the 2.7Â kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W

, 2017
Jackson Gao, Leera D’Souza, Keith Wetherby, Christian Antolik, Melissa Reeves, David Glade Adams, Santa J. Tumminia, Xinjing Wang   +7 more
openalex   +1 more source

A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse. [PDF]

, 1991
Lutz B. Giebel, R. K. Tripathi, Richard A. King, Richard A. Spritz   +3 more
openalex   +1 more source

Oculocutaneous Albinism in a Finetooth Shark, Carcharhinus isodon, from Mobile Bay, Alabama

, 2006
Lisa M. Jones, Robert L. Shipp
openalex   +2 more sources

Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23. 1-q23.3 [PDF]

, 2017
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by the triad of tyrosinase-positive oculocutaneous albinism, bleeding diathesis due to storage-pool deficiency of platelets, and a lysosomal ceroid storage disease.
Almodóvar, Carmelo, Frenk, Edgar, Fukai, Kazuyoshi, Oh, Jangsuk, Spritz, Richard A.   +4 more
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