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Year Number of Results
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15 results

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Page 1
Oculocutaneous albinism.
Grønskov K, Ek J, Brondum-Nielsen K. Grønskov K, et al. Orphanet J Rare Dis. 2007 Nov 2;2:43. doi: 10.1186/1750-1172-2-43. Orphanet J Rare Dis. 2007. PMID: 17980020 Free PMC article. Review.
Molecular genetic testing of TYR and OCA2 is available on a clinical basis, while, at present, analysis of TYRP1 and MATP is on research basis only. Differential diagnosis includes ocular albinism, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, G …
Molecular genetic testing of TYR and OCA2 is available on a clinical basis, while, at present, analysis of TYRP1 and MATP is on research bas …
Hermansky-Pudlak syndrome: high-resolution computed tomography findings and literature review.
Bin Saeedan M, Faheem Mohammed S, Mohammed TL. Bin Saeedan M, et al. Curr Probl Diagn Radiol. 2015 Jul-Aug;44(4):383-5. doi: 10.1067/j.cpradiol.2015.01.003. Epub 2015 Jan 30. Curr Probl Diagn Radiol. 2015. PMID: 25728501 Review.
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by platelet dysfunction, oculocutaneous albinism, and life-threatening pulmonary fibrosis. There are 7 HPS genotypes, with type 1 being the most severe. Pulmonary invo …
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by platelet dysfunction, oculocuta …
Current landscape of Oculocutaneous Albinism in Japan.
Okamura K, Suzuki T. Okamura K, et al. Pigment Cell Melanoma Res. 2021 Mar;34(2):190-203. doi: 10.1111/pcmr.12927. Epub 2020 Oct 7. Pigment Cell Melanoma Res. 2021. PMID: 32969595 Review.
Patients with OCA have hypopigmentation and ocular manifestations such as photophobia, amblyopia, and nystagmus. Hermansky-Pudlak syndrome (HPS), the most common syndromic OCA, is characterized by the additional features of a bleeding tendency and other criti …
Patients with OCA have hypopigmentation and ocular manifestations such as photophobia, amblyopia, and nystagmus. Hermansky-Pudlak …
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 (WS1-WS4) …
The genetic and molecular bases of various types of congenital pigmentary disorders have been classified in the past 10 years, as follows: ( …
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. Pierson DM, et al. Respiration. 2006;73(3):382-95. doi: 10.1159/000091609. Epub 2006 Feb 14. Respiration. 2006. PMID: 16490934 Review.
Hermansky-Pudlak syndrome (HPS) is a rare heterogeneously inherited autosomal recessive group of disorders presenting with oculocutaneous albinism, bleeding diathesis and pulmonary disease. ...This is especially problematic in the lungs where it is often asso …
Hermansky-Pudlak syndrome (HPS) is a rare heterogeneously inherited autosomal recessive group of disorders presenting w …
Neonatal and maternal risk in Hermansky-Pudlak syndrome: peripartum management-brief report and review of literature.
Bachmann C, Abele H, Wallwiener D, Kagan KO. Bachmann C, et al. Arch Gynecol Obstet. 2014 Jun;289(6):1193-5. doi: 10.1007/s00404-013-3110-7. Epub 2013 Dec 13. Arch Gynecol Obstet. 2014. PMID: 24337786 Review.
INTRODUCTION: Challenges of modern medicine are peripartum bleeding complications as one of the most frequent cases of emergency in obstetrics with a prevalence of 0.5-5.0 %, meaning the main cause of maternal morbidity and mortality. In this context, inherited diseases such as …
INTRODUCTION: Challenges of modern medicine are peripartum bleeding complications as one of the most frequent cases of emergency in obstetri …
The cell biology of Hermansky-Pudlak syndrome: recent advances.
Di Pietro SM, Dell'Angelica EC. Di Pietro SM, et al. Traffic. 2005 Jul;6(7):525-33. doi: 10.1111/j.1600-0854.2005.00299.x. Traffic. 2005. PMID: 15941404 Free article. Review.
Hermansky-Pudlak syndrome (HPS) defines a group of at least seven autosomal recessive disorders characterized by albinism and prolonged bleeding. ...
Hermansky-Pudlak syndrome (HPS) defines a group of at least seven autosomal recessive disorders characterized by albini …
Syndromic albinism: a review of genetics and phenotypes.
Scheinfeld NS. Scheinfeld NS. Dermatol Online J. 2003 Dec;9(5):5. Dermatol Online J. 2003. PMID: 14996378 Free article. Review.
There are several syndromes of albinism associated with systemic pathology. These include Chediak-Higashi Syndrome (CHS), Hermansky-Pudlack Syndrome (HPS), Griscelli Syndrome (GS), Elejalde Syndrome (ES) and Cross-McKusick-Breen Syndrome …
There are several syndromes of albinism associated with systemic pathology. These include Chediak-Higashi Syndrome (CHS), Hermansk …
Regulating secretory lysosomes.
Holt OJ, Gallo F, Griffiths GM. Holt OJ, et al. J Biochem. 2006 Jul;140(1):7-12. doi: 10.1093/jb/mvj126. J Biochem. 2006. PMID: 16877763 Review.
15 results