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Quoted phrase not found in phrase index: "Hermansky-Pudlak syndrome 9"
Page 1
Hermansky-Pudlak syndrome: Mutation update.
Huizing M, Malicdan MCV, Wang JA, Pri-Chen H, Hess RA, Fischer R, O'Brien KJ, Merideth MA, Gahl WA, Gochuico BR. Huizing M, et al. Hum Mutat. 2020 Mar;41(3):543-580. doi: 10.1002/humu.23968. Epub 2020 Jan 23. Hum Mutat. 2020. PMID: 31898847 Free PMC article.
Hermansky-Pudlak syndrome (HPS) is a group of 10 autosomal recessive multisystem disorders, each defined by the deficiency of a specific gene. ...Therefore, identification of the HPS subtype is valuable for prognosis, clinical management, and treatment option …
Hermansky-Pudlak syndrome (HPS) is a group of 10 autosomal recessive multisystem disorders, each defined by the deficie …
Hermansky-Pudlak syndrome: health care throughout life.
Seward SL Jr, Gahl WA. Seward SL Jr, et al. Pediatrics. 2013 Jul;132(1):153-60. doi: 10.1542/peds.2012-4003. Epub 2013 Jun 10. Pediatrics. 2013. PMID: 23753089 Review.
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disease that displays genetic heterogeneity; there are 9 known subtypes. ...Optimal health care requires a thorough knowledge of the unique health risks and functional limitations associated …
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disease that displays genetic heterogeneity; there are …
Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study.
Kuht HJ, Maconachie GDE, Han J, Kessel L, van Genderen MM, McLean RJ, Hisaund M, Tu Z, Hertle RW, Gronskov K, Bai D, Wei A, Li W, Jiao Y, Smirnov V, Choi JH, Tobin MD, Sheth V, Purohit R, Dawar B, Girach A, Strul S, May L, Chen FK, Heath Jeffery RC, Aamir A, Sano R, Jin J, Brooks BP, Kohl S, Arveiler B, Montoliu L, Engle EC, Proudlock FA, Nishad G, Pani P, Varma G, Gottlob I, Thomas MG. Kuht HJ, et al. Ophthalmology. 2022 Jun;129(6):708-718. doi: 10.1016/j.ophtha.2022.02.010. Epub 2022 Feb 11. Ophthalmology. 2022. PMID: 35157951 Free PMC article.
PARTICIPANTS: A total of 907 patients with a confirmed molecular diagnosis of albinism, PAX6, SLC38A8, FRMD7, AHR, or achromatopsia from 12 centers in 9 countries (n = 523) or extracted from publicly available datasets from previously reported literature (n = 384). ...Anal …
PARTICIPANTS: A total of 907 patients with a confirmed molecular diagnosis of albinism, PAX6, SLC38A8, FRMD7, AHR, or achromatopsia from 12 …
The presentation and outcomes of Hermansky-Pudlak syndrome in obstetrics and gynecological settings: A systematic review.
Obeng-Tuudah D, Hussein BA, Hakim A, Gomez K, Abdul Kadir R. Obeng-Tuudah D, et al. Int J Gynaecol Obstet. 2021 Sep;154(3):412-426. doi: 10.1002/ijgo.13632. Epub 2021 Mar 9. Int J Gynaecol Obstet. 2021. PMID: 33521972 Review.
BACKGROUND: Hermansky-Pudlak syndrome (HPS) is a rare autosomal-recessive disorder with clinical manifestations of bleeding diathesis, multi-organ disease and variable oculocutaneous albinism (OCA). ...Major PPH occurred in 3/9 (33%) pregnancies covere …
BACKGROUND: Hermansky-Pudlak syndrome (HPS) is a rare autosomal-recessive disorder with clinical manifestations of blee …
Dermatologic manifestations in patients with the Hermansky-Pudlak syndrome types 1 and 3.
Santos Malave G, Izquierdo NJ, Sanchez NP. Santos Malave G, et al. Orphanet J Rare Dis. 2022 Jul 30;17(1):305. doi: 10.1186/s13023-022-02464-w. Orphanet J Rare Dis. 2022. PMID: 35907869 Free PMC article.
BACKGROUND: The Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous group of diseases characterized by oculocutaneous albinism, bleeding diathesis, and systemic complications. ...OBJECTIVES: To report dermatologic manifestations in patients with …
BACKGROUND: The Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous group of diseases characterized by oculo …
Hermansky-Pudlak syndrome.
Krisp A, Hoffman R, Happle R, König A, Freyschmidt-Paul P. Krisp A, et al. Eur J Dermatol. 2001 Jul-Aug;11(4):372-3. Eur J Dermatol. 2001. PMID: 11399548
The simultaneous occurrence of these features was first described by Hermansky and Pudlak in 1959. The Hermansky-Pudlak syndrome follows an autosomal recessive trait and is most frequently found in Puerto Rico and in the Swiss alps. ...
The simultaneous occurrence of these features was first described by Hermansky and Pudlak in 1959. The Hermansky-Pud …
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. Power B, et al. Orphanet J Rare Dis. 2019 Feb 21;14(1):52. doi: 10.1186/s13023-019-1023-7. Orphanet J Rare Dis. 2019. PMID: 30791930 Free PMC article.
Whole exome or direct sequencing showed that two of the children had Hermansky-Pudlak syndrome (HPS) type-1 (HPS-1), one had HPS-3, one had HPS-4, and four had non-syndromic oculocutaneous albinism associated with TYR variants (OCA1). ...Whole mount transmiss …
Whole exome or direct sequencing showed that two of the children had Hermansky-Pudlak syndrome (HPS) type-1 (HPS-1), on …
Hermansky-Pudlak syndrome in pregnancy.
Spencer J, Rosengren S. Spencer J, et al. Am J Perinatol. 2009 Oct;26(9):617-9. doi: 10.1055/s-0029-1220777. Epub 2009 Apr 15. Am J Perinatol. 2009. PMID: 19370510
Hermansky-Pudlak syndrome (HPS) is a multisystem, autosomal-recessive disorder characterized by oculocutaneous albinism, platelet storage pool deficiency resulting in prolonged bleeding, and ceroid lipofuscin deposition. ...
Hermansky-Pudlak syndrome (HPS) is a multisystem, autosomal-recessive disorder characterized by oculocutaneous albinism …
Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS.
Bryan MM, Tolman NJ, Simon KL, Huizing M, Hufnagel RB, Brooks BP, Speransky V, Mullikin JC, Gahl WA, Malicdan MCV, Gochuico BR. Bryan MM, et al. Mol Genet Metab. 2017 Apr;120(4):378-383. doi: 10.1016/j.ymgme.2017.02.007. Epub 2017 Feb 27. Mol Genet Metab. 2017. PMID: 28259707 Free PMC article.
PURPOSE: Hermansky-Pudlak syndrome (HPS) is a rare inherited disorder with ten reported genetic types; each type has defects in subunits of either Adaptor Protein-3 complex or Biogenesis of Lysosome-related Organelles Complex (BLOC)-1, -2, or -3. Very few pat …
PURPOSE: Hermansky-Pudlak syndrome (HPS) is a rare inherited disorder with ten reported genetic types; each type has de …
Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism.
Chan HW, Schiff ER, Tailor VK, Malka S, Neveu MM, Theodorou M, Moosajee M. Chan HW, et al. Genes (Basel). 2021 Mar 30;12(4):508. doi: 10.3390/genes12040508. Genes (Basel). 2021. PMID: 33808351 Free PMC article.
Albinism encompasses a group of hereditary disorders characterized by reduced or absent ocular pigment and variable skin and/or hair involvement, with syndromic forms such as Hermansky-Pudlak syndrome and Chediak-Higashi syndrome. Autosomal recessive o …
Albinism encompasses a group of hereditary disorders characterized by reduced or absent ocular pigment and variable skin and/or hair involve …
26 results