Results 111 to 120 of about 1,223,862 (192)

Hermansky-Pudlak Syndrome Pulmonary Fibrosis: Monogenic Disorder, Multi-Omics Discovery. [PDF]

Am J Respir Cell Mol Biol
Ghincea A, Herzog EL.
europepmc   +1 more source

Hermansky-Pudlak syndrome-rare type 10 with AP3D1 mutation. [PDF]

Oxf Med Case Reports
Balaraddi V, Nawlakhe K, K S, Bandiya P.
europepmc   +1 more source

Hermansky-Pudlak Syndrome Type 6 and Renal Failure: A Rare Genetic Disease. [PDF]

Cureus, 2023
Alhozali H.
europepmc   +1 more source

Case report: Double-lung transplantation for Hermansky-Pudlak syndrome-associated pulmonary fibrosis and early-stage lung cancer. [PDF]

Front Immunol
Li X, Ding L, Li B, Ding Z, Wang K, Li J, Gao X.   +6 more
europepmc   +1 more source

Case Report: Hermansky-Pudlak syndrome type 1 with pulmonary involvement in a 62-year-old Caucasian woman with rheumatoid arthritis. [PDF]

Front Immunol
Giulianelli G, Bernardinello N, Cocconcelli E, Rizzo S, Basso C, Bertomoro A, Ferrari S, Colavito D, Spagnolo P, Balestro E.   +9 more
europepmc   +1 more source

Refractory Colitis in Hermansky-Pudlak Syndrome: A Surgical Case Report. [PDF]

Cureus
Serpa-Irizarry M, Rodriguez-Reyes D, Mejias-Febres ED, Lafontaine JC, Correa M, Delgado-Cifuentes A.   +5 more
europepmc   +1 more source

Report of Hermansky-Pudlak Syndrome in Two Families with Novel Variants in HPS3 and HPS4 Genes. [PDF]

Genes (Basel), 2023
Zaman Q, Sadeeda, Anas M, Rehman G, Khan Q, Iftikhar A, Ahmad M, Owais M, Ahmad I, Muthaffar OY, Abdulkareem AA, Bibi F, Jelani M, Naseer MI.   +13 more
europepmc   +1 more source

Clinical Features and Novel Genetic Variants Associated with Hermansky-Pudlak Syndrome. [PDF]

Genes (Basel), 2022
Chen C, Wang R, Yuan Y, Li J, Yu X.
europepmc   +1 more source

A Novel Splice Site Mutation in HPS1 Gene is Associated with Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family [PDF]

International Journal of Molecular and Cellular Medicine, 2016
Soudeh Ghafouri-Fard, Feyzollah Hashemi-Gorji, Vahid Reza Yassaee, Nasrin Alipour, Mohammad Miryounesi   +4 more
doaj  

Progressive pulmonary fibrosis in a murine model of Hermansky-Pudlak syndrome. [PDF]

Respir Res, 2022
Abudi-Sinreich S, Bodine SP, Yokoyama T, Tolman NJ, Tyrlik M, Testa LC, Han CG, Dorward HM, Wincovitch SM, Anikster Y, Gahl WA, Cinar R, Gochuico BR, Malicdan MCV.   +13 more
europepmc   +1 more source