Results 51 to 60 of about 291 (129)

Epilepsia Frontal Refratária Sintomática a Displasia Cortical: Caso Clínico [PDF]

, 2016
Tiago da Cruz Carvalho
core  

Application of Forced Oscillation Technique in Assessing Pulmonary Fibrosis in Hermansky-Pudlak Syndrome. [PDF]

Adv Respir Med
De Jesús-Rojas W, Reyes-Peña L, Muñiz-Hernandez J, Mena-Ventura R, Camareno-Soto G, Rosario-Ortiz G, Ramos-Benitez MJ, Egozcue-Dionisi M, Rivera-Jimenez E, Román-Carlo R.   +9 more
europepmc   +1 more source

After an initial Hermansky-Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type 1B: A case report. [PDF]

Mol Genet Genomic Med
Serrano-González J, Montes-Rodríguez I, Renta JY, Rojas R, Cadilla CL.   +4 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

Modeling of lung phenotype of Hermansky-Pudlak syndrome type I using patient-specific iPSCs. [PDF]

Respir Res, 2021
Suezawa T, Kanagaki S, Korogi Y, Nakao K, Hirai T, Murakami K, Hagiwara M, Gotoh S.   +7 more
europepmc   +1 more source

Hermansky-Pudlak Syndrome with an Improvement in the Respiratory Symptoms after the Administration of Pirfenidone. [PDF]

Intern Med
Ono Y, Tode N, Yamamoto Y, Iwasaki C, Konno S, Sugiyama H, Endo T, Takeda S, Matsumoto S, Numakura T, Ichikawa T, Tamada T, Sugiura H.   +12 more
europepmc   +1 more source

CB₁ R and iNOS are distinct players promoting pulmonary fibrosis in Hermansky-Pudlak syndrome. [PDF]

Clin Transl Med, 2021
Cinar R, Park JK, Zawatsky CN, Coffey NJ, Bodine SP, Abdalla J, Yokoyama T, Jourdan T, Jay L, Zuo MXG, O'Brien KJ, Huang J, Mackie K, Alimardanov A, Iyer MR, Gahl WA, Kunos G, Gochuico BR, Malicdan MCV.   +18 more
europepmc   +1 more source

Masks of Albinism: Clinical Spectrum of Hermansky-Pudlak Syndrome. [PDF]

Int J Mol Sci
Bobreshova AM, Ionova SA, Kadyshev VV, Sukhanova NV, Viakhireva IV, Filatova AY, Zhurkova NV, Sparber PA, Marakhonov AV, Vasilyeva TA, Shchagina OA, Kutsev SI, Zinchenko RA.   +12 more
europepmc   +1 more source

Hermansky-Pudlak syndrome-associated pneumothorax with rapid progression of respiratory failure: a case report. [PDF]

BMC Pulm Med, 2020
Kato Y, Kato M, Ihara H, Hayakawa E, Shibayama K, Miura K, Yamada T, Mitsuishi Y, Shukuya T, Ito J, Matsunaga T, Sato T, Suzuki K, Takahashi K.   +13 more
europepmc   +1 more source

A novel deletion in the BLOC1S6 Gene Associated with Hermansky-Pudlak syndrome type 9 (HPS-9). [PDF]

BMC Genomics
Kahani SM, Saray AR, Kahaei MS, Dehghani A, Mohammadi P, Garshasbi M.   +5 more
europepmc   +1 more source