Results 111 to 120 of about 1,233,281 (160)

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

Differences in Visual Acuity Among Hermansky-Pudlak Syndrome Subtypes. [PDF]

Cureus
Jiménez-Berríos GA, Vázquez-Folch SJ, Izquierdo N.   +2 more
europepmc   +1 more source

A novel likely pathogenic variant in a patient with Hermansky-Pudlak syndrome. [PDF]

Cold Spring Harb Mol Case Stud, 2021
Lansdon LA, Chen D, Rush ET, Engleman K, Zhang L, Saunders CJ, Oroszi G.   +6 more
europepmc   +1 more source

Anandamide Is a Potential Blood Biomarker of Hermansky-Pudlak Syndrome Pulmonary Fibrosis. [PDF]

Am J Respir Crit Care Med
Cinar R, Basu A, Arif M, Park JK, Zawatsky CN, Zuo BLG, Zuo MXG, O'Brien KJ, Behan M, Introne W, Iyer MR, Gahl WA, Malicdan MCV, Gochuico BR.   +13 more
europepmc   +1 more source

Hermansky-Pudlak syndrome type 2: A rare cause of severe periodontitis in adolescents-A case study. [PDF]

Front Pediatr, 2022
Chen J, Yang Y, Liu B, Xie X, Li W.
europepmc   +1 more source

Dysregulated myosin in Hermansky-Pudlak syndrome lung fibroblasts is associated with increased cell motility. [PDF]

Respir Res, 2022
Imani J, Bodine SPM, Lamattina AM, Ma DD, Shrestha S, Maynard DM, Bishop K, Nwokeji A, Malicdan MCV, Testa LC, Sood R, Stump B, Rosas IO, Perrella MA, Handin R, Young LR, Gochuico BR, El-Chemaly S.   +17 more
europepmc   +1 more source

Lung Transplantation for Pulmonary Fibrosis Associated With Hermansky-Pudlak Syndrome. A Single-center Experience. [PDF]

Transplant Direct, 2022
Benvenuto L, Qayum S, Kim H, Robbins H, Shah L, Dimango A, Magda G, Grewal H, Lemaitre P, Stanifer BP, Sonett J, D'Ovidio F, Arcasoy SM.   +12 more
europepmc   +1 more source

Granulomatous Colitis Due to Hermansky-Pudlak Syndrome. [PDF]

ACG Case Rep J
Koulali H, Azzmouri S, Tajir M, Zerrouki K, Haloui A, Elmqaddem O, Zazour A, Ismaili Z, Kharrasse G.   +8 more
europepmc   +1 more source

Impairment of Renal Function in Hermansky-Pudlak Syndrome. [PDF]

Am J Nephrol
Yokoyama T, O'Brien KJ, Franklin TM, Zuo BLG, Zuo MXG, Merideth MA, Introne WJ, Gochuico BR.   +7 more
europepmc   +1 more source