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Year Number of Results
1993 1
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30 results

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Page 1
Hermansky-Pudlak syndrome: Mutation update.
Huizing M, Malicdan MCV, Wang JA, Pri-Chen H, Hess RA, Fischer R, O'Brien KJ, Merideth MA, Gahl WA, Gochuico BR. Huizing M, et al. Among authors: o brien kj. Hum Mutat. 2020 Mar;41(3):543-580. doi: 10.1002/humu.23968. Epub 2020 Jan 23. Hum Mutat. 2020. PMID: 31898847 Free PMC article.
Hermansky-Pudlak Syndrome.
Introne WJ, Huizing M, Malicdan MCV, O'Brien KJ, Gahl WA. Introne WJ, et al. Among authors: o brien kj. 2000 Jul 24 [updated 2023 May 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2000 Jul 24 [updated 2023 May 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301464 Free Books & Documents. Review.
The curse of idiopathic.
O'Brien KJ, Gahl WA, Gochuico BR. O'Brien KJ, et al. J Inherit Metab Dis. 2018 Jan;41(1):3-4. doi: 10.1007/s10545-017-0101-z. Epub 2017 Oct 27. J Inherit Metab Dis. 2018. PMID: 29080035 Free PMC article. No abstract available.
Aortic distensibility in alkaptonuria.
Thimmapuram R, Bandettini WP, Shanbhag SM, Yu JH, O'Brien KJ, Gahl WA, Introne WJ, Chen MY. Thimmapuram R, et al. Among authors: o brien kj. Mol Genet Metab. 2020 Aug;130(4):289-296. doi: 10.1016/j.ymgme.2020.05.006. Epub 2020 May 18. Mol Genet Metab. 2020. PMID: 32466960
Neurological manifestations of Erdheim-Chester Disease.
Boyd LC, O'Brien KJ, Ozkaya N, Lehky T, Meoded A, Gochuico BR, Hannah-Shmouni F, Nath A, Toro C, Gahl WA, Estrada-Veras JI, Dave RH. Boyd LC, et al. Among authors: o brien kj. Ann Clin Transl Neurol. 2020 Apr;7(4):497-506. doi: 10.1002/acn3.51014. Epub 2020 Mar 29. Ann Clin Transl Neurol. 2020. PMID: 32227455 Free PMC article.
Genetic variants associated with Hermansky-Pudlak syndrome.
Merideth MA, Introne WJ, Wang JA, O'Brien KJ, Huizing M, Gochuico BR. Merideth MA, et al. Among authors: o brien kj. Platelets. 2020 May 18;31(4):544-547. doi: 10.1080/09537104.2019.1663810. Epub 2019 Sep 5. Platelets. 2020. PMID: 32436471 Free PMC article.
Impairment of Renal Function in Hermansky-Pudlak Syndrome.
Yokoyama T, O'Brien KJ, Franklin TM, Zuo BLG, Zuo MXG, Merideth MA, Introne WJ, Gochuico BR. Yokoyama T, et al. Among authors: o brien kj. Am J Nephrol. 2024 Oct 9:1-10. doi: 10.1159/000541835. Online ahead of print. Am J Nephrol. 2024. PMID: 39383848 Free article.
Anandamide is an Early Blood Biomarker of Hermansky-Pudlak Syndrome Pulmonary Fibrosis.
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. Cinar R, et al. Among authors: o brien kj. medRxiv [Preprint]. 2024 May 17:2024.05.16.24307300. doi: 10.1101/2024.05.16.24307300. medRxiv. 2024. PMID: 38798603 Free PMC article. Preprint.
CB1 R and iNOS are distinct players promoting pulmonary fibrosis in Hermansky-Pudlak syndrome.
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. Cinar R, et al. Among authors: o brien kj. Clin Transl Med. 2021 Jul;11(7):e471. doi: 10.1002/ctm2.471. Clin Transl Med. 2021. PMID: 34323400 Free PMC article.
Hermansky-Pudlak syndrome in two African-American brothers.
Merideth MA, Vincent LM, Sparks SE, Hess RA, Manoli I, O'Brien KJ, Tsilou E, White JG, Huizing M, Gahl WA. Merideth MA, et al. Among authors: o brien kj. Am J Med Genet A. 2009 May;149A(5):987-92. doi: 10.1002/ajmg.a.32757. Am J Med Genet A. 2009. PMID: 19334085 Free PMC article.
30 results