95 related articles for article (PubMed ID: 27942505)
1. A Novel Splice Site Mutation in
Ghafouri-Fard S; Hashemi-Gorji F; Yassaee VR; Alipour N; Miryounesi M
Int J Mol Cell Med; 2016; 5(3):192-195. PubMed ID: 27942505
[No Abstract] [Full Text] [Related]
2. Mutation analysis of HPS1, the gene mutated in Hermansky-Pudlak syndrome, in patients with isolated platelet dense-granule deficiency.
Corral J; González-Conejero R; Pujol-Moix N; Domenech P; Vicente V
Haematologica; 2004 Mar; 89(3):325-9. PubMed ID: 15020272
[TBL] [Abstract][Full Text] [Related]
3. High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein.
Ito S; Suzuki T; Inagaki K; Suzuki N; Takamori K; Yamada T; Nakazawa M; Hatano M; Takiwaki H; Kakuta Y; Spritz RA; Tomita Y
J Invest Dermatol; 2005 Oct; 125(4):715-20. PubMed ID: 16185271
[TBL] [Abstract][Full Text] [Related]
4. Abnormal translocation of tyrosinase and tyrosinase-related protein 1 in cutaneous melanocytes of Hermansky-Pudlak Syndrome and in melanoma cells transfected with anti-sense HPS1 cDNA.
Sarangarajan R; Budev A; Zhao Y; Gahl WA; Boissy RE
J Invest Dermatol; 2001 Sep; 117(3):641-6. PubMed ID: 11564171
[TBL] [Abstract][Full Text] [Related]
5. Infantile-onset inflammatory bowel disease in a patient with Hermansky-Pudlak syndrome: a case report.
Ishihara J; Mizuochi T; Uchida T; Takaki Y; Konishi KI; Joo M; Takahashi Y; Yoshioka S; Kusano H; Sasahara Y; Yamashita Y
BMC Gastroenterol; 2019 Jan; 19(1):9. PubMed ID: 30634918
[TBL] [Abstract][Full Text] [Related]
6. Hermansky-Pudlak syndrome with a novel mutation.
Iwakawa J; Matsuyama W; Watanabe M; Yamamoto M; Oonakahara K; Machida K; Higashimoto I; Niiyama T; Osame M; Arimura K
Intern Med; 2005 Jul; 44(7):733-8. PubMed ID: 16093596
[TBL] [Abstract][Full Text] [Related]
7. Heterozygous HPS1 mutations in a case of Hermansky-Pudlak syndrome with giant melanosomes.
Horikawa T; Araki K; Fukai K; Ueda M; Ueda T; Ito S; Ichihashi M
Br J Dermatol; 2000 Sep; 143(3):635-40. PubMed ID: 10971344
[TBL] [Abstract][Full Text] [Related]
8. Ultrastructural features of trafficking defects are pronounced in melanocytic nevus in Hermansky-Pudlak syndrome type 1.
Natsuga K; Akiyama M; Shimizu T; Suzuki T; Ito S; Tomita Y; Tanaka J; Shimizu H
J Invest Dermatol; 2005 Jul; 125(1):154-8. PubMed ID: 15982315
[TBL] [Abstract][Full Text] [Related]
9. Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases.
Hermos CR; Huizing M; Kaiser-Kupfer MI; Gahl WA
Hum Mutat; 2002 Dec; 20(6):482. PubMed ID: 12442288
[TBL] [Abstract][Full Text] [Related]
10. Hermansky-Pudlak syndrome: radiography and CT of the chest compared with pulmonary function tests and genetic studies.
Avila NA; Brantly M; Premkumar A; Huizing M; Dwyer A; Gahl WA
AJR Am J Roentgenol; 2002 Oct; 179(4):887-92. PubMed ID: 12239031
[TBL] [Abstract][Full Text] [Related]
11. Novel mutations in the HPS1 gene among Puerto Rican patients.
Carmona-Rivera C; Hess RA; O'Brien K; Golas G; Tsilou E; White JG; Gahl WA; Huizing M
Clin Genet; 2011 Jun; 79(6):561-7. PubMed ID: 20662851
[TBL] [Abstract][Full Text] [Related]
12. Compound heterozygous mutations in 2 siblings with Hermansky-Pudlak syndrome type 1 (HPS1).
Sandrock K; Bartsch I; Rombach N; Schmidt K; Nakamura L; Hainmann I; Busse A; Zieger B
Klin Padiatr; 2010 May; 222(3):168-74. PubMed ID: 20514622
[TBL] [Abstract][Full Text] [Related]
13. Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene.
Suzuki T; Li W; Zhang Q; Karim A; Novak EK; Sviderskaya EV; Hill SP; Bennett DC; Levin AV; Nieuwenhuis HK; Fong CT; Castellan C; Miterski B; Swank RT; Spritz RA
Nat Genet; 2002 Mar; 30(3):321-4. PubMed ID: 11836498
[TBL] [Abstract][Full Text] [Related]
14. Hermansky-Pudlak syndrome.
Krisp A; Hoffman R; Happle R; König A; Freyschmidt-Paul P
Eur J Dermatol; 2001; 11(4):372-3. PubMed ID: 11399548
[TBL] [Abstract][Full Text] [Related]
15. Generation of Hermansky-Pudlak Syndrome Type 1 (HPS1) induced pluripotent stem cells (iPSCs).
Maguire JA; Lu L; Mills JA; Sullivan LM; Gagne A; Gadue P; French DL
Stem Cell Res; 2016 Mar; 16(2):233-5. PubMed ID: 27345974
[TBL] [Abstract][Full Text] [Related]
16. Does Hermansky-Pudlak syndrome predispose to systemic lupus erythematosus?
Mitsui H; Komine M; Watanabe T; Kikuchi K; Okochi H; Tamaki K
Br J Dermatol; 2002 May; 146(5):908-11. PubMed ID: 12000395
[TBL] [Abstract][Full Text] [Related]
17. Novel aberrations of HPS1 mRNA detected in a case of Hermansky-Pudlak syndrome with pulmonary fibrosis.
Ikegami Y; Hiyama K; Haruta Y; Oguri C; Yamasaki M; Kohno N
Sarcoidosis Vasc Diffuse Lung Dis; 2004 Mar; 21(1):78-9. PubMed ID: 15127980
[No Abstract] [Full Text] [Related]
18. Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism.
O'Brien KJ; Lozier J; Cullinane AR; Osorio B; Nghiem K; Speransky V; Zein WM; Mullikin JC; Neff AT; Simon KL; Malicdan MC; Gahl WA; Young LR; Gochuico BR
Mol Genet Metab; 2016 Nov; 119(3):284-287. PubMed ID: 27641950
[TBL] [Abstract][Full Text] [Related]
19. Regulation of mRNA abundance by polypyrimidine tract-binding protein-controlled alternate 5' splice site choice.
Hamid FM; Makeyev EV
PLoS Genet; 2014 Nov; 10(11):e1004771. PubMed ID: 25375251
[TBL] [Abstract][Full Text] [Related]
20. Immunophenotypic and Ultrastructural Analysis of Mast Cells in Hermansky-Pudlak Syndrome Type-1: A Possible Connection to Pulmonary Fibrosis.
Kirshenbaum AS; Cruse G; Desai A; Bandara G; Leerkes M; Lee CC; Fischer ER; O'Brien KJ; Gochuico BR; Stone K; Gahl WA; Metcalfe DD
PLoS One; 2016; 11(7):e0159177. PubMed ID: 27459687
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
