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Results: 1 to 20 of 139

Similar articles for PubMed (Select 21665000)

1.

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.

2.

Chitinase 3-like-1 and its receptors in Hermansky-Pudlak syndrome-associated lung disease.

Zhou Y, He CH, Herzog EL, Peng X, Lee CM, Nguyen TH, Gulati M, Gochuico BR, Gahl WA, Slade ML, Lee CG, Elias JA.

J Clin Invest. 2015 Jun 29. pii: 79792. doi: 10.1172/JCI79792. [Epub ahead of print]

PMID:
26121745
3.

A rare cause of thrombocyte dysfunction: Hermansky-Pudlak syndrome.

Özdemir N, Çelik E, Başlar Z, Celkan T.

Turk Pediatri Ars. 2014 Jun 1;49(2):163-6. doi: 10.5152/tpa.2014.1071. eCollection 2014 Jun.

4.

Hermansky-Pudlak syndrome type 4 with interstitial pneumonia.

Sakata Y, Kawamura K, Ichikado K, Suga M, Yoshioka M.

Respir Med Case Rep. 2013 Jun 3;9:38-41. doi: 10.1016/j.rmcr.2013.04.002. eCollection 2013.

5.

BLOC-2 targets recycling endosomal tubules to melanosomes for cargo delivery.

Dennis MK, Mantegazza AR, Snir OL, Tenza D, Acosta-Ruiz A, Delevoye C, Zorger R, Sitaram A, de Jesus-Rojas W, Ravichandran K, Rux J, Sviderskaya EV, Bennett DC, Raposo G, Marks MS, Setty SR.

J Cell Biol. 2015 May 25;209(4):563-577.

PMID:
26008744
6.

Defective platelet autocrine signaling in HPS.

Storrie B.

Blood. 2015 Mar 5;125(10):1515-6. doi: 10.1182/blood-2015-01-616284.

7.

Hermansky-pudlak syndrome: high-resolution computed tomography findings and literature review.

Bin Saeedan M, Faheem Mohammed S, Mohammed TL.

Curr Probl Diagn Radiol. 2015 Jul-Aug;44(4):383-5. doi: 10.1067/j.cpradiol.2015.01.003. Epub 2015 Jan 30.

PMID:
25728501
8.

Anesthetic management of a patient with Hermansky-Pudlak syndrome undergoing video-assisted bullectomy.

Ideno S, Hatori E, Takeda J, Morisaki H.

J Clin Anesth. 2015 May;27(3):243-6. doi: 10.1016/j.jclinane.2014.10.004. Epub 2014 Dec 27.

PMID:
25547825
9.

Defective release of α granule and lysosome contents from platelets in mouse Hermansky-Pudlak syndrome models.

Meng R, Wu J, Harper DC, Wang Y, Kowalska MA, Abrams CS, Brass LF, Poncz M, Stalker TJ, Marks MS.

Blood. 2015 Mar 5;125(10):1623-32. doi: 10.1182/blood-2014-07-586727. Epub 2014 Dec 4.

PMID:
25477496
10.

In vitro functional correction of Hermansky-Pudlak Syndrome type-1 by lentiviral-mediated gene transfer.

Ikawa Y, Hess R, Dorward H, Cullinane AR, Huizing M, Gochuico BR, Gahl WA, Candotti F.

Mol Genet Metab. 2015 Jan;114(1):62-5. doi: 10.1016/j.ymgme.2014.11.006. Epub 2014 Nov 12.

PMID:
25468649
11.

[Hypomelanoses transmitted from generation to generation].

Otręba M, Buszman E, Miliński M, Wrześniok D.

Postepy Hig Med Dosw (Online). 2014 Sep 3;68:1081-90. Review. Polish.

PMID:
25228517
12.

Hermansky-Pudlak syndrome. Overview of clinical and molecular features and case report of a new HPS-1 variant.

Sánchez-Guiu I, Torregrosa JM, Velasco F, Antón AI, Lozano ML, Vicente V, Rivera J.

Hamostaseologie. 2014;34(4):301-9. doi: 10.5482/HAMO-14-06-0024. Epub 2014 Aug 13.

PMID:
25117010
13.

Melanocytic galectin-3 is associated with tyrosinase-related protein-1 and pigment biosynthesis.

Chalupa A, Koshoffer A, Galan E, Yu L, Liu FT, Boissy RE.

J Invest Dermatol. 2015 Jan;135(1):202-11. doi: 10.1038/jid.2014.315. Epub 2014 Jul 23.

14.

Mucocutaneous granulomatous disease in a patient with Hermansky-Pudlak syndrome.

Salvaggio HL, Graeber KE, Clarke LE, Schlosser BJ, Orlow SJ, Clarke JT.

JAMA Dermatol. 2014 Oct;150(10):1083-7. doi: 10.1001/jamadermatol.2014.147. Review.

PMID:
24989352
15.

Ocular Findings in Patients with the Hermansky-Pudlak Syndrome (Types 1 and 3).

Jardón J, Izquierdo NJ, Renta JY, García-Rodríguez O, Cadilla CL.

Ophthalmic Genet. 2014 Apr 28. [Epub ahead of print]

PMID:
24766090
16.

Hermansky-Pudlak syndrome (HPS5) in a nonagenarian.

Summers CG, Schimmenti LA, Sperber S.

J AAPOS. 2014 Apr;18(2):209-10. doi: 10.1016/j.jaapos.2014.02.002. No abstract available.

PMID:
24698632
17.

Case of Hermansky-Pudlak syndrome 1 patient with milder symptoms in Japanese.

Takeuchi S, Abe Y, Yamada T, Kawano S, Hozumi Y, Ito S, Suzuki T, Nishigori C.

J Dermatol. 2014 Mar;41(3):268-70. doi: 10.1111/1346-8138.12390. Epub 2014 Jan 31. No abstract available.

PMID:
24479888
18.

Hermansky-Pudlak syndrome type 4 with a novel mutation.

Araki Y, Ishii Y, Abe Y, Yoshizawa J, Okamoto F, Hozumi Y, Suzuki T.

J Dermatol. 2014 Feb;41(2):186-7. doi: 10.1111/1346-8138.12386. Epub 2014 Jan 16. No abstract available.

PMID:
24433314
19.

Neonatal and maternal risk in Hermansky-Pudlak syndrome: peripartum management-brief report and review of literature.

Bachmann C, Abele H, Wallwiener D, Kagan KO.

Arch Gynecol Obstet. 2014 Jun;289(6):1193-5. doi: 10.1007/s00404-013-3110-7. Epub 2013 Dec 13. Review.

PMID:
24337786
20.

The hermansky-pudlak syndrome: clinical features and imperatives from an ophthalmic perspective.

Schneier AJ, Fulton AB.

Semin Ophthalmol. 2013 Sep-Nov;28(5-6):387-91. doi: 10.3109/08820538.2013.825280. Review.

PMID:
24138047
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