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Results: 1 to 20 of 110

PubMed (Bookshelf cited) for MedGen (Select 419514)


Diagnostic clinical genome and exome sequencing.

Biesecker LG, Green RC.

N Engl J Med. 2014 Sep 18;371(12):1170. doi: 10.1056/NEJMc1408914. No abstract available.


The unique association of iris heterochromia with Hermansky Pudlak syndrome.

Summers CG, Schimmenti LA.

J AAPOS. 2014 Apr;18(2):209. doi: 10.1016/j.jaapos.2014.02.003. No abstract available.


Association of the Hermansky-Pudlak syndrome type 4 (HPS4) gene variants with cognitive function in patients with schizophrenia and healthy subjects.

Kuratomi G, Saito A, Ozeki Y, Watanabe T, Fujii K, Shimoda K, Inukai T, Mori H, Ohmori K, Akiyama K.

BMC Psychiatry. 2013 Oct 30;13:276. doi: 10.1186/1471-244X-13-276.


The WASH complex, an endosomal Arp2/3 activator, interacts with the Hermansky-Pudlak syndrome complex BLOC-1 and its cargo phosphatidylinositol-4-kinase type IIα.

Ryder PV, Vistein R, Gokhale A, Seaman MN, Puthenveedu MA, Faundez V.

Mol Biol Cell. 2013 Jul;24(14):2269-84. doi: 10.1091/mbc.E13-02-0088. Epub 2013 May 15.


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. doi: 10.1016/j.jaapos.2013.02.002. Epub 2013 Apr 19.


An association study of the Hermansky-Pudlak syndrome type 4 gene in schizophrenic patients.

Saito A, Kuratomi G, Ito C, Matsuoka H, Suzuki T, Ozeki Y, Watanabe T, Fujii K, Shimoda K, Fukushima Y, Inukai T, Ohmori K, Akiyama K.

Psychiatr Genet. 2013 Aug;23(4):163-73. doi: 10.1097/YPG.0b013e32836130a9.


Disruption of AP3B1 by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2.

Jones ML, Murden SL, Brooks C, Maloney V, Manning RA, Gilmour KC, Bharadwaj V, de la Fuente J, Chakravorty S, Mumford AD.

BMC Med Genet. 2013 Apr 4;14:42. doi: 10.1186/1471-2350-14-42.


The BLOC-1 complex promotes endosomal maturation by recruiting the Rab5 GTPase-activating protein Msb3.

John Peter AT, Lachmann J, Rana M, Bunge M, Cabrera M, Ungermann C.

J Cell Biol. 2013 Apr 1;201(1):97-111. doi: 10.1083/jcb.201210038.


Microsatellite markers as a rapid approach for autozygosity mapping in Hermansky-Pudlak syndrome: identification of the second HPS7 mutation in a patient presenting late in life.

Lowe GC, Sánchez Guiu I, Chapman O, Rivera J, Lordkipanidzé M, Dovlatova N, Wilde J, Watson SP, Morgan NV; UK GAPP collaborative.

Thromb Haemost. 2013 Apr;109(4):766-8. doi: 10.1160/TH12-11-0876. Epub 2013 Jan 31. No abstract available.


BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor.

Gerondopoulos A, Langemeyer L, Liang JR, Linford A, Barr FA.

Curr Biol. 2012 Nov 20;22(22):2135-9. doi: 10.1016/j.cub.2012.09.020. Epub 2012 Oct 18.


Association of genetic variations in DTNBP1 with cognitive function in schizophrenia patients and healthy subjects.

Baek JH, Kim JS, Ryu S, Oh S, Noh J, Lee WK, Park T, Lee YS, Lee D, Kwon JS, Hong KS.

Am J Med Genet B Neuropsychiatr Genet. 2012 Oct;159B(7):841-9. doi: 10.1002/ajmg.b.32091. Epub 2012 Aug 22.


A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8.

Cullinane AR, Curry JA, Golas G, Pan J, Carmona-Rivera C, Hess RA, White JG, Huizing M, Gahl WA.

Pigment Cell Melanoma Res. 2012 Sep;25(5):584-91. doi: 10.1111/j.1755-148X.2012.01029.x. Epub 2012 Aug 2.


The BLOS1-interacting protein KXD1 is involved in the biogenesis of lysosome-related organelles.

Yang Q, He X, Yang L, Zhou Z, Cullinane AR, Wei A, Zhang Z, Hao Z, Zhang A, He M, Feng Y, Gao X, Gahl WA, Huizing M, Li W.

Traffic. 2012 Aug;13(8):1160-9. doi: 10.1111/j.1600-0854.2012.01375.x. Epub 2012 May 28.


Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome.

Badolato R, Prandini A, Caracciolo S, Colombo F, Tabellini G, Giacomelli M, Cantarini ME, Pession A, Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, Saunders CJ, Zhang L, Schroth GP, Plebani A, Parolini S, Kingsmore SF.

Blood. 2012 Mar 29;119(13):3185-7. doi: 10.1182/blood-2012-01-404350. No abstract available.


Assembly and architecture of biogenesis of lysosome-related organelles complex-1 (BLOC-1).

Lee HH, Nemecek D, Schindler C, Smith WJ, Ghirlando R, Steven AC, Bonifacino JS, Hurley JH.

J Biol Chem. 2012 Feb 17;287(8):5882-90. doi: 10.1074/jbc.M111.325746. Epub 2011 Dec 27.


Rapid genetic diagnosis of heritable platelet function disorders with next-generation sequencing: proof-of-principle with Hermansky-Pudlak syndrome.

Jones ML, Murden SL, Bem D, Mundell SJ, Gissen P, Daly ME, Watson SP, Mumford AD; UK GAPP study group.

J Thromb Haemost. 2012 Feb;10(2):306-9. doi: 10.1111/j.1538-7836.2011.04569.x. No abstract available.


Therapy refractory menorrhagia as first manifestation of Hermansky-Pudlak syndrome.

Lohse J, Gehrisch S, Tauer JT, Knöfler R.

Hamostaseologie. 2011 Nov;31 Suppl 1:S61-3.


Interstitial lung disease and pulmonary fibrosis in Hermansky-Pudlak syndrome type 2, an adaptor protein-3 complex disease.

Gochuico BR, Huizing M, Golas GA, Scher CD, Tsokos M, Denver SD, Frei-Jones MJ, Gahl WA.

Mol Med. 2012 Feb 10;18:56-64. doi: 10.2119/molmed.2011.00198.


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. doi: 10.1038/jid.2011.228. Epub 2011 Aug 11.


A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9.

Cullinane AR, Curry JA, Carmona-Rivera C, Summers CG, Ciccone C, Cardillo ND, Dorward H, Hess RA, White JG, Adams D, Huizing M, Gahl WA.

Am J Hum Genet. 2011 Jun 10;88(6):778-87. doi: 10.1016/j.ajhg.2011.05.009.

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