Helip-Wooley A - Search Results

1

An immunoblotting assay to facilitate the molecular diagnosis of Hermansky-Pudlak syndrome.

Nazarian R, Huizing M, Helip-Wooley A, Starcevic M, Gahl WA, Dell'Angelica EC. Nazarian R, et al. Among authors: helip wooley a. Mol Genet Metab. 2008 Feb;93(2):134-44. doi: 10.1016/j.ymgme.2007.09.001. Epub 2007 Oct 22. Mol Genet Metab. 2008. PMID: 17933573 Free PMC article.

2

Detection of hemizygosity in Hermansky-Pudlak syndrome by quantitative real-time PCR.

Griffin AE, Cobb BR, Anderson PD, Claassen DA, Helip-Wooley A, Huizing M, Gahl WA. Griffin AE, et al. Clin Genet. 2005 Jul;68(1):23-30. doi: 10.1111/j.1399-0004.2005.00461.x. Clin Genet. 2005. PMID: 15952982

3

Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6.

Huizing M, Pederson B, Hess RA, Griffin A, Helip-Wooley A, Westbroek W, Dorward H, O'Brien KJ, Golas G, Tsilou E, White JG, Gahl WA. Huizing M, et al. Among authors: helip wooley a. J Med Genet. 2009 Dec;46(12):803-10. doi: 10.1136/jmg.2008.065961. Epub 2009 Oct 20. J Med Genet. 2009. PMID: 19843503 Free PMC article.

4

Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5.

Huizing M, Hess R, Dorward H, Claassen DA, Helip-Wooley A, Kleta R, Kaiser-Kupfer MI, White JG, Gahl WA. Huizing M, et al. Traffic. 2004 Sep;5(9):711-22. doi: 10.1111/j.1600-0854.2004.00208.x. Traffic. 2004. PMID: 15296495 Free article.

5

Improper trafficking of melanocyte-specific proteins in Hermansky-Pudlak syndrome type-5.

Helip-Wooley A, Westbroek W, Dorward HM, Koshoffer A, Huizing M, Boissy RE, Gahl WA. Helip-Wooley A, et al. J Invest Dermatol. 2007 Jun;127(6):1471-8. doi: 10.1038/sj.jid.5700737. Epub 2007 Feb 15. J Invest Dermatol. 2007. PMID: 17301833 Free PMC article.

6

Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome.

Huizing M, Parkes JM, Helip-Wooley A, White JG, Gahl WA. Huizing M, et al. Among authors: helip wooley a. Platelets. 2007 Mar;18(2):150-7. doi: 10.1080/13576500600936039. Platelets. 2007. PMID: 17365864 Free article.

7

Identifying putative promoter regions of Hermansky-Pudlak syndrome genes by means of phylogenetic footprinting.

Stanescu H, Wolfsberg TG, Moreland RT, Ayub MH, Erickson E, Westbroek W, Huizing M, Gahl WA, Helip-Wooley A. Stanescu H, et al. Among authors: helip wooley a. Ann Hum Genet. 2009 Jul;73(Pt 4):422-8. doi: 10.1111/j.1469-1809.2009.00525.x. Ann Hum Genet. 2009. PMID: 19523149 Free PMC article.

8

Dysregulation of galectin-3. Implications for Hermansky-Pudlak syndrome pulmonary fibrosis.

Cullinane AR, Yeager C, Dorward H, Carmona-Rivera C, Wu HP, Moss J, O'Brien KJ, Nathan SD, Meyer KC, Rosas IO, Helip-Wooley A, Huizing M, Gahl WA, Gochuico BR. Cullinane AR, et al. Among authors: helip wooley a. Am J Respir Cell Mol Biol. 2014 Mar;50(3):605-13. doi: 10.1165/rcmb.2013-0025OC. Am J Respir Cell Mol Biol. 2014. PMID: 24134621 Free PMC article.

9

Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex.

Gwynn B, Martina JA, Bonifacino JS, Sviderskaya EV, Lamoreux ML, Bennett DC, Moriyama K, Huizing M, Helip-Wooley A, Gahl WA, Webb LS, Lambert AJ, Peters LL. Gwynn B, et al. Blood. 2004 Nov 15;104(10):3181-9. doi: 10.1182/blood-2004-04-1538. Epub 2004 Jul 20. Blood. 2004. PMID: 15265785 Free article.

10

Melanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3.

Boissy RE, Richmond B, Huizing M, Helip-Wooley A, Zhao Y, Koshoffer A, Gahl WA. Boissy RE, et al. Am J Pathol. 2005 Jan;166(1):231-40. doi: 10.1016/S0002-9440(10)62247-X. Am J Pathol. 2005. PMID: 15632015 Free PMC article.

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