310 related articles for article (PubMed ID: 23668540)
41. Genetic variants associated with Hermansky-Pudlak syndrome.
Merideth MA; Introne WJ; Wang JA; O'Brien KJ; Huizing M; Gochuico BR
Platelets; 2020 May; 31(4):544-547. PubMed ID: 32436471
[TBL] [Abstract][Full Text] [Related]
42. Hermansky-Pudlak syndrome with early onset inflammatory bowel disease due to loss of dysbindin expression.
Bhattad S; Libre M; Choi JM; Mohite RS; Singh N; Markle JG
Eur J Med Genet; 2023 Jul; 66(7):104786. PubMed ID: 37172778
[TBL] [Abstract][Full Text] [Related]
43. 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]
44. Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.
Stephen J; Yokoyama T; Tolman NJ; O'Brien KJ; Nicoli ER; Brooks BP; Huryn L; Titus SA; Adams DR; Chen D; Gahl WA; Gochuico BR; Malicdan MC
PLoS One; 2017; 12(3):e0173682. PubMed ID: 28296950
[TBL] [Abstract][Full Text] [Related]
45. Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism.
Wei AH; Zang DJ; Zhang Z; Liu XZ; He X; Yang L; Wang Y; Zhou ZY; Zhang MR; Dai LL; Yang XM; Li W
J Invest Dermatol; 2013 Jul; 133(7):1834-40. PubMed ID: 23364476
[TBL] [Abstract][Full Text] [Related]
46. DNA diagnosis and management of Hermansky-Pudlak syndrome in pregnancy.
Wax JR; Rosengren S; Spector E; Gainey AJ; Ingardia CJ
Am J Perinatol; 2001 May; 18(3):159-61. PubMed ID: 11414528
[TBL] [Abstract][Full Text] [Related]
47. BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.
Pennamen P; Le L; Tingaud-Sequeira A; Fiore M; Bauters A; Van Duong Béatrice N; Coste V; Bordet JC; Plaisant C; Diallo M; Michaud V; Trimouille A; Lacombe D; Lasseaux E; Delevoye C; Picard FM; Delobel B; Marks MS; Arveiler B
Genet Med; 2020 Oct; 22(10):1613-1622. PubMed ID: 32565547
[TBL] [Abstract][Full Text] [Related]
48. Pulmonary fibrosis in hermansky-pudlak syndrome. a case report and review.
Pierson DM; Ionescu D; Qing G; Yonan AM; Parkinson K; Colby TC; Leslie K
Respiration; 2006; 73(3):382-95. PubMed ID: 16490934
[TBL] [Abstract][Full Text] [Related]
49. 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]
50. 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]
51. Interaction of Hermansky-Pudlak Syndrome genes in the regulation of lysosome-related organelles.
Gautam R; Novak EK; Tan J; Wakamatsu K; Ito S; Swank RT
Traffic; 2006 Jul; 7(7):779-92. PubMed ID: 16787394
[TBL] [Abstract][Full Text] [Related]
52. The rat Ruby ( R) locus is Rab38: identical mutations in Fawn-hooded and Tester-Moriyama rats derived from an ancestral Long Evans rat sub-strain.
Oiso N; Riddle SR; Serikawa T; Kuramoto T; Spritz RA
Mamm Genome; 2004 Apr; 15(4):307-14. PubMed ID: 15112108
[TBL] [Abstract][Full Text] [Related]
53. Improper trafficking of melanocyte-specific proteins in Hermansky-Pudlak syndrome type-5.
Helip-Wooley A; Westbroek W; Dorward HM; Koshoffer A; Huizing M; Boissy RE; Gahl WA
J Invest Dermatol; 2007 Jun; 127(6):1471-8. PubMed ID: 17301833
[TBL] [Abstract][Full Text] [Related]
54. Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome.
Huizing M; Parkes JM; Helip-Wooley A; White JG; Gahl WA
Platelets; 2007 Mar; 18(2):150-7. PubMed ID: 17365864
[TBL] [Abstract][Full Text] [Related]
55. Milder ocular findings in Hermansky-Pudlak syndrome type 3 compared with Hermansky-Pudlak syndrome type 1.
Tsilou ET; Rubin BI; Reed GF; McCain L; Huizing M; White J; Kaiser-Kupfer MI; Gahl W
Ophthalmology; 2004 Aug; 111(8):1599-603. PubMed ID: 15288994
[TBL] [Abstract][Full Text] [Related]
56. Hermansky-Pudlak syndrome: models for intracellular vesicle formation.
Shotelersuk V; Gahl WA
Mol Genet Metab; 1998 Oct; 65(2):85-96. PubMed ID: 9787100
[TBL] [Abstract][Full Text] [Related]
57. 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]
58. Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6.
Di Pietro SM; Falcón-Pérez JM; Dell'Angelica EC
Traffic; 2004 Apr; 5(4):276-83. PubMed ID: 15030569
[TBL] [Abstract][Full Text] [Related]
59. Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico.
Anikster Y; Huizing M; White J; Shevchenko YO; Fitzpatrick DL; Touchman JW; Compton JG; Bale SJ; Swank RT; Gahl WA; Toro JR
Nat Genet; 2001 Aug; 28(4):376-80. PubMed ID: 11455388
[TBL] [Abstract][Full Text] [Related]
60. Characterization of the murine gene corresponding to human Hermansky-Pudlak syndrome type 3: exclusion of the Subtle gray (sut) locus.
Huizing M; Anikster Y; White JG; Gahl WA
Mol Genet Metab; 2001; 74(1-2):217-25. PubMed ID: 11592818
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
