369 related articles for article (PubMed ID: 23607980)
1. 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]
2. 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]
3. Hermansky-Pudlak syndrome subtype 5 (HPS-5) novel mutation in a 65 year-old with oculocutaneous hypopigmentation and mild bleeding diathesis: The importance of recognizing a subtle phenotype.
Botero JP; Chen D; Majerus JA; Coon LM; He R; Warad DM; Pruthi RK; Nichols WL
Platelets; 2018 Jan; 29(1):91-94. PubMed ID: 29090612
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Hermansky-Pudlak syndrome in a pregnant patient: a case report.
Harris-Glocker M; Thornburg LL; Pressman EK
J Reprod Med; 2013; 58(5-6):267-70. PubMed ID: 23763015
[TBL] [Abstract][Full Text] [Related]
6. Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis.
Bachli EB; Brack T; Eppler E; Stallmach T; Trüeb RM; Huizing M; Gahl WA
Am J Med Genet A; 2004 Jun; 127A(2):201-7. PubMed ID: 15108212
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.
Power B; Ferreira CR; Chen D; Zein WM; O'Brien KJ; Introne WJ; Stephen J; Gahl WA; Huizing M; Malicdan MCV; Adams DR; Gochuico BR
Orphanet J Rare Dis; 2019 Feb; 14(1):52. PubMed ID: 30791930
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant.
Han CG; O'Brien KJ; Coon LM; Majerus JA; Huryn LA; Haroutunian SG; Moka N; Introne WJ; Macnamara E; Gahl WA; Malicdan MCV; Chen D; Krishnan K; Gochuico BR
Am J Med Genet A; 2018 Dec; 176(12):2819-2823. PubMed ID: 30369044
[TBL] [Abstract][Full Text] [Related]
12. Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report.
Doubková M; Trizuljak J; Vrzalová Z; Hrazdirová A; Blaháková I; Radová L; Pospíšilová Š; Doubek M
BMC Pulm Med; 2019 Oct; 19(1):178. PubMed ID: 31619213
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency.
Huizing M; Anikster Y; Fitzpatrick DL; Jeong AB; D'Souza M; Rausche M; Toro JR; Kaiser-Kupfer MI; White JG; Gahl WA
Am J Hum Genet; 2001 Nov; 69(5):1022-32. PubMed ID: 11590544
[TBL] [Abstract][Full Text] [Related]
16. Hermansky-Pudlak syndrome in pregnancy.
Spencer J; Rosengren S
Am J Perinatol; 2009 Oct; 26(9):617-9. PubMed ID: 19370510
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak syndrome.
Pennamen P; Tingaud-Sequeira A; Michaud V; Morice-Picard F; Plaisant C; Vincent-Delorme C; Giuliano F; Azarnoush S; Capri Y; Marçon C; Lacombe D; Lasseaux E; Arveiler B
Pigment Cell Melanoma Res; 2021 Jan; 34(1):132-135. PubMed ID: 32687635
[TBL] [Abstract][Full Text] [Related]
20. Coexistence of Hermansky-Pudlak syndrome and JAK2
Eskazan T; Erturkuner SP; Isildar B; Eskazan AE; Ar MC; Atay K; Baslar Z; Tasyurekli M
Ultrastruct Pathol; 2019; 43(1):94-98. PubMed ID: 30932722
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
