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Results: 1 to 20 of 128

Related Citations for PubMed (Select 24054038)

1.

The unique association of iris heterochromia with Hermansky-Pudlak syndrome.

Radke P, Schimmenti LA, Schoonveld C, Bothun ED, Summers CG.

J AAPOS. 2013 Oct;17(5):542-4. doi: 10.1016/j.jaapos.2013.05.012. Epub 2013 Sep 17.

PMID:
24054038
2.

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.

PMID:
24698630
3.

Hermansky-Pudlak syndrome in a pregnant patient: a case report.

Harris-Glocker M, Thornburg LL, Pressman EK.

J Reprod Med. 2013 May-Jun;58(5-6):267-70.

PMID:
23763015
4.

Metastatic cutaneous involvement of granulomatous colitis in Hermansky-Pudlak syndrome.

Weitz N, Patel V, Tlougan B, Mencin A, Kadenhe-Chiweshe A, Morel KD, Lauren C.

Pediatr Dermatol. 2013 Nov-Dec;30(6):e278-80. doi: 10.1111/j.1525-1470.2012.01728.x. Epub 2012 Apr 4.

PMID:
22471786
5.

Hermansky Pudlak syndrome: an unusual form of procto-colitis.

Echenique I, García Gonzrález JM, Echenique IA, Izquierdo NJ, Mella JR, Barasorda E, Mella MT, Figueroa-Boilo S.

Bol Asoc Med P R. 2008 Jan-Mar;100(1):76-9.

PMID:
18763399
6.

Ileal Crohn's disease in a woman with Hermansky-Pudlak syndrome.

de Leusse A, Dupuy E, Huizing M, Danel C, Meyer G, Jian R, Marteau P.

Gastroenterol Clin Biol. 2006 Apr;30(4):621-4.

7.

P gene mutations in patients with oculocutaneous albinism and findings suggestive of Hermansky-Pudlak syndrome.

Garrison NA, Yi Z, Cohen-Barak O, Huizing M, Hartnell LM, Gahl WA, Brilliant MH.

J Med Genet. 2004 Jun;41(6):e86. No abstract available.

8.

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.

PMID:
23607980
9.

Variable response of Hermansky-Pudlak syndrome to prophylactic administration of 1-desamino 8D-arginine in subsequent pregnancies.

Zatik J, Póka R, Borsos A, Pfliegler G.

Eur J Obstet Gynecol Reprod Biol. 2002 Sep 10;104(2):165-6.

PMID:
12206932
10.

Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico.

Santiago Borrero PJ, Rodríguez-Pérez Y, Renta JY, Izquierdo NJ, Del Fierro L, Muñoz D, Molina NL, Ramírez S, Pagán-Mercado G, Ortíz I, Rivera-Caragol E, Spritz RA, Cadilla CL.

J Invest Dermatol. 2006 Jan;126(1):85-90.

11.

Complicated granulomatous colitis in a patient with Hermansky-Pudlak syndrome, successfully treated with infliximab.

Erzin Y, Cosgun S, Dobrucali A, Tasyurekli M, Erdamar S, Tuncer M.

Acta Gastroenterol Belg. 2006 Apr-Jun;69(2):213-6.

PMID:
16929618
12.

[Familial pulmonary fibrosis in 2 Mexican sisters with Hermansky-Pudlak syndrome].

Zamora AC, Alonso-Martínez D, Barrera L, Mendoza F, Gaxiola M, Carrillo G.

Arch Bronconeumol. 2009 Aug;45(8):408-10. doi: 10.1016/j.arbres.2009.01.002. Epub 2009 May 2. Spanish.

13.

Ocular findings in the Hermansky-Pudlak syndrome.

Izquierdo NJ, Townsend W, Hussels IE.

Trans Am Ophthalmol Soc. 1995;93:191-200; discussion 200-2.

14.

The management of gastrointestinal disease in Hermansky-Pudlak syndrome.

Mora AJ, Wolfsohn DM.

J Clin Gastroenterol. 2011 Sep;45(8):700-2. doi: 10.1097/MCG.0b013e3181fd2742.

PMID:
21085008
15.

Color vision in patients with the Hermansky-Pudlak syndrome.

Rodríguez JA, Blasini M 2nd, Blasini M, Townsend W, Izquierdo NJ.

Bol Asoc Med P R. 2004 Mar-Apr;96(2):84-90.

PMID:
15580910
16.

Hermansky-Pudlak syndrome: health care throughout life.

Seward SL Jr, Gahl WA.

Pediatrics. 2013 Jul;132(1):153-60. doi: 10.1542/peds.2012-4003. Epub 2013 Jun 10. Review.

17.

A rare cause of interstitial lung disease: Hermansky-Pudlak syndrome.

Ciledağ A, Cirit Koçer B, Köktürk N, Kaya A, Celik G, Numanoğlu N.

Tuberk Toraks. 2011;59(1):85-8.

18.

Eye movement abnormalities in hermansky-pudlak syndrome.

Gradstein L, FitzGibbon EJ, Tsilou ET, Rubin BI, Huizing M, Gahl WA.

J AAPOS. 2005 Aug;9(4):369-78.

PMID:
16102489
19.

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
20.

Crohn's-like colitis, enterocolitis and perianal disease in Hermansky-Pudlak syndrome.

Hazzan D, Seward S, Stock H, Zisman S, Gabriel K, Harpaz N, Bauer JJ.

Colorectal Dis. 2006 Sep;8(7):539-43.

PMID:
16919103
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