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Page 1
Pulmonary Fibrosis in Hermansky-Pudlak Syndrome.
Vicary GW, Vergne Y, Santiago-Cornier A, Young LR, Roman J. Vicary GW, et al. Ann Am Thorac Soc. 2016 Oct;13(10):1839-1846. doi: 10.1513/AnnalsATS.201603-186FR. Ann Am Thorac Soc. 2016. PMID: 27529121 Free PMC article. Review.
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive genetic disorder characterized by oculocutaneous albinism and a bleeding diathesis due to platelet dysfunction. ...
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive genetic disorder characterized by oculocutaneous albinism
Lysosome-related organelles.
Dell'Angelica EC, Mullins C, Caplan S, Bonifacino JS. Dell'Angelica EC, et al. FASEB J. 2000 Jul;14(10):1265-78. doi: 10.1096/fj.14.10.1265. FASEB J. 2000. PMID: 10877819 Review.
Abnormalities in both lysosomes and lysosome-related organelles have been observed in human genetic diseases such as the Chediak-Higashi and Hermansky-Pudlak syndromes, further demonstrating the close relationship between these organelles. ...
Abnormalities in both lysosomes and lysosome-related organelles have been observed in human genetic diseases such as the Chediak-Higashi and …
Primary immunodeficiency associated with hypopigmentation: A differential diagnosis approach.
Zamani R, Shahkarami S, Rezaei N. Zamani R, et al. Allergol Immunopathol (Madr). 2021 Mar 1;49(2):178-190. doi: 10.15586/aei.v49i2.61. eCollection 2021. Allergol Immunopathol (Madr). 2021. PMID: 33641308 Review.
However, hypopigmentation may also signify a feature of genetic diseases associated with immunodeficiency, such as Chediak-Higashi syndrome, Griscelli syndrome type 2, Hermansky-Pudlak syndrome type 2 and type 10, Vici syndrome, an …
However, hypopigmentation may also signify a feature of genetic diseases associated with immunodeficiency, such as Chediak-Higashi syndro
A Novel Likely Pathogenic Variant in the BLOC1S5 Gene Associated with Hermansky-Pudlak Syndrome Type 11 and an Overview of Human BLOC-1 Deficiencies.
Boeckelmann D, Wolter M, Käsmann-Kellner B, Koehler U, Schieber-Nakamura L, Zieger B. Boeckelmann D, et al. Cells. 2021 Oct 1;10(10):2630. doi: 10.3390/cells10102630. Cells. 2021. PMID: 34685610 Free PMC article. Review.
Hermansky-Pudlak syndrome (HPS) is a heterogeneous disorder combining oculocutaneous albinism (OCA) and a platelet function disorder of varying severity as its most prominent features. ...
Hermansky-Pudlak syndrome (HPS) is a heterogeneous disorder combining oculocutaneous albinism (OCA) and a platelet func
Genetics of pigmentary disorders.
Tomita Y, Suzuki T. Tomita Y, et al. Am J Med Genet C Semin Med Genet. 2004 Nov 15;131C(1):75-81. doi: 10.1002/ajmg.c.30036. Am J Med Genet C Semin Med Genet. 2004. PMID: 15452859 Review.
The genetic and molecular bases of various types of congenital pigmentary disorders have been classified in the past 10 years, as follows: (1) disorders of melanoblast migration in the embryo from the neural crest to the skin: piebaldism; Waardenburg syndrome 1-4 (W …
The genetic and molecular bases of various types of congenital pigmentary disorders have been classified in the past 10 years, as fol …
Hermansky-Pudlak syndrome: models for intracellular vesicle formation.
Shotelersuk V, Gahl WA. Shotelersuk V, et al. Mol Genet Metab. 1998 Oct;65(2):85-96. doi: 10.1006/mgme.1998.2729. Mol Genet Metab. 1998. PMID: 9787100 Review.
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by pigment dilution, nystagmus, decreased visual acuity, a bleeding diathesis, and lysosomal accumulation of ceroid lipofuscin. ...It consists of 20 exons encoding a 700-amino ac
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by pigment dilution, nystagmus, decrea
Evidence for defective Rab GTPase-dependent cargo traffic in immune disorders.
Krzewski K, Cullinane AR. Krzewski K, et al. Exp Cell Res. 2013 Sep 10;319(15):2360-7. doi: 10.1016/j.yexcr.2013.06.012. Epub 2013 Jun 26. Exp Cell Res. 2013. PMID: 23810987 Free PMC article. Review.
More than 60 Rab GTPases play important roles in protein trafficking, but only five Rab-encoding genes have been associated with inherited human disorders, and only one of these (Rab27a) causes an immune defect. Mutations in RAB27A cause Griscelli Syndrome type 2 (GS2), an …
More than 60 Rab GTPases play important roles in protein trafficking, but only five Rab-encoding genes have been associated with inherited h …
Mucocutaneous granulomatous disease in a patient with Hermansky-Pudlak syndrome.
Salvaggio HL, Graeber KE, Clarke LE, Schlosser BJ, Orlow SJ, Clarke JT. Salvaggio HL, et al. JAMA Dermatol. 2014 Oct;150(10):1083-7. doi: 10.1001/jamadermatol.2014.147. JAMA Dermatol. 2014. PMID: 24989352 Review.
IMPORTANCE: Hermansky-Pudlak syndrome (HPS) is a rare genodermatosis characterized by oculocutaneous albinism, platelet dysfunction, and in some patients, pulmonary fibrosis and granulomatous colitis. ...
IMPORTANCE: Hermansky-Pudlak syndrome (HPS) is a rare genodermatosis characterized by oculocutaneous albinism, platelet …
15 results