310 related articles for article (PubMed ID: 23668540)
21. Hermansky-Pudlak syndrome: Report of two patients with updated genetic classification and management recommendations.
Loredana Asztalos M; Schafernak KT; Gray J; Berry A; Paller AS; Mancini AJ
Pediatr Dermatol; 2017 Nov; 34(6):638-646. PubMed ID: 29044644
[TBL] [Abstract][Full Text] [Related]
22. The Zebrafish fade out mutant: a novel genetic model for Hermansky-Pudlak syndrome.
Bahadori R; Rinner O; Schonthaler HB; Biehlmaier O; Makhankov YV; Rao P; Jagadeeswaran P; Neuhauss SC
Invest Ophthalmol Vis Sci; 2006 Oct; 47(10):4523-31. PubMed ID: 17003448
[TBL] [Abstract][Full Text] [Related]
23. A Novel Likely Pathogenic Variant in the
Boeckelmann D; Wolter M; Käsmann-Kellner B; Koehler U; Schieber-Nakamura L; Zieger B
Cells; 2021 Oct; 10(10):. PubMed ID: 34685610
[TBL] [Abstract][Full Text] [Related]
24. Hermansky-Pudlak syndrome: health care throughout life.
Seward SL; Gahl WA
Pediatrics; 2013 Jul; 132(1):153-60. PubMed ID: 23753089
[TBL] [Abstract][Full Text] [Related]
25. Mutational data integration in gene-oriented files of the Hermansky-Pudlak Syndrome database.
Li W; He M; Zhou H; Bourne JW; Liang P
Hum Mutat; 2006 May; 27(5):402-7. PubMed ID: 16550546
[TBL] [Abstract][Full Text] [Related]
26. A clinical variant of familial Hermansky-Pudlak syndrome.
Iannello S; Fabbri G; Bosco P; Cavaleri A; Cantarella S; Camuto M; Milazzo P; Romeo F; Belfiore F
MedGenMed; 2003 Jan; 5(1):3. PubMed ID: 12827064
[TBL] [Abstract][Full Text] [Related]
27. The CHiPS Domain--ancient traces for the Hermansky-Pudlak syndrome.
Hoffman-Sommer M; Grynberg M; Kucharczyk R; Rytka J
Traffic; 2005 Jul; 6(7):534-8. PubMed ID: 15941405
[TBL] [Abstract][Full Text] [Related]
28. A novel mutation in a Turkish patient with Hermansky-Pudlak syndrome type 5.
Korswagen LA; Huizing M; Simsek S; Janssen JJ; Zweegman S
Eur J Haematol; 2008 Apr; 80(4):356-60. PubMed ID: 18182080
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. Hermansky-Pudlak syndrome (HPS5) in a nonagenarian.
Ringeisen AL; Schimmenti LA; White JG; Schoonveld C; Summers CG
J AAPOS; 2013 Jun; 17(3):334-6. PubMed ID: 23607980
[TBL] [Abstract][Full Text] [Related]
31. Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent.
Carmona-Rivera C; Golas G; Hess RA; Cardillo ND; Martin EH; O'Brien K; Tsilou E; Gochuico BR; White JG; Huizing M; Gahl WA
J Invest Dermatol; 2011 Dec; 131(12):2394-400. PubMed ID: 21833017
[TBL] [Abstract][Full Text] [Related]
32. Hermansky-Pudlak syndrome: vesicle formation from yeast to man.
Huizing M; Boissy RE; Gahl WA
Pigment Cell Res; 2002 Dec; 15(6):405-19. PubMed ID: 12453182
[TBL] [Abstract][Full Text] [Related]
33. Insights into the biogenesis of lysosome-related organelles from the study of the Hermansky-Pudlak syndrome.
Bonifacino JS
Ann N Y Acad Sci; 2004 Dec; 1038():103-14. PubMed ID: 15838104
[TBL] [Abstract][Full Text] [Related]
34. Two distinct phenotypes in pigmented cells of different embryonic origins in eyes of pale ear mice.
Jing R; Dong X; Li K; Zhang J; Yan J; Feng L
Exp Eye Res; 2014 Feb; 119():35-43. PubMed ID: 24361037
[TBL] [Abstract][Full Text] [Related]
35. Genetic variants and mutational spectrum of Chinese Hermansky-Pudlak syndrome patients.
Liu T; Yuan Y; Bai D; Qi Z; Yang L; Zhang T; Yang X; Li W; Wei A
Pigment Cell Melanoma Res; 2021 Jan; 34(1):111-121. PubMed ID: 32725903
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1).
Li W; Zhang Q; Oiso N; Novak EK; Gautam R; O'Brien EP; Tinsley CL; Blake DJ; Spritz RA; Copeland NG; Jenkins NA; Amato D; Roe BA; Starcevic M; Dell'Angelica EC; Elliott RW; Mishra V; Kingsmore SF; Paylor RE; Swank RT
Nat Genet; 2003 Sep; 35(1):84-9. PubMed ID: 12923531
[TBL] [Abstract][Full Text] [Related]
38. Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6.
Huizing M; Pederson B; Hess RA; Griffin A; Helip-Wooley A; Westbroek W; Dorward H; O'Brien KJ; Golas G; Tsilou E; White JG; Gahl WA
J Med Genet; 2009 Dec; 46(12):803-10. PubMed ID: 19843503
[TBL] [Abstract][Full Text] [Related]
39. 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]
40. Hermansky-Pudlak Syndrome.
De Jesus Rojas W; Young LR
Semin Respir Crit Care Med; 2020 Apr; 41(2):238-246. PubMed ID: 32279294
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]