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Results: 1 to 20 of 21

1.

Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome.

Klootwijk ED, Reichold M, Helip-Wooley A, Tolaymat A, Broeker C, Robinette SL, Reinders J, Peindl D, Renner K, Eberhart K, Assmann N, Oefner PJ, Dettmer K, Sterner C, Schroeder J, Zorger N, Witzgall R, Reinhold SW, Stanescu HC, Bockenhauer D, Jaureguiberry G, Courtneidge H, Hall AM, Wijeyesekera AD, Holmes E, Nicholson JK, O'Brien K, Bernardini I, Krasnewich DM, Arcos-Burgos M, Izumi Y, Nonoguchi H, Jia Y, Reddy JK, Ilyas M, Unwin RJ, Gahl WA, Warth R, Kleta R.

N Engl J Med. 2014 Jan 9;370(2):129-38. doi: 10.1056/NEJMoa1307581.

PMID:
24401050
[PubMed - indexed for MEDLINE]
Free Article
2.

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.

Am J Respir Cell Mol Biol. 2014 Mar;50(3):605-13. doi: 10.1165/rcmb.2013-0025OC.

PMID:
24134621
[PubMed - indexed for MEDLINE]
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.

J Med Genet. 2009 Dec;46(12):803-10. doi: 10.1136/jmg.2008.065961. Epub 2009 Oct 20.

PMID:
19843503
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Alveolar macrophage dysregulation in Hermansky-Pudlak syndrome type 1.

Rouhani FN, Brantly ML, Markello TC, Helip-Wooley A, O'Brien K, Hess R, Huizing M, Gahl WA, Gochuico BR.

Am J Respir Crit Care Med. 2009 Dec 1;180(11):1114-21. doi: 10.1164/rccm.200901-0023OC. Epub 2009 Sep 3.

PMID:
19729668
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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.

Ann Hum Genet. 2009 Jul;73(Pt 4):422-8. doi: 10.1111/j.1469-1809.2009.00525.x.

PMID:
19523149
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics.

Huizing M, Helip-Wooley A, Westbroek W, Gunay-Aygun M, Gahl WA.

Annu Rev Genomics Hum Genet. 2008;9:359-86. doi: 10.1146/annurev.genom.9.081307.164303. Review.

PMID:
18544035
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome.

Westbroek W, Tuchman M, Tinloy B, De Wever O, Vilboux T, Hertz JM, Hasle H, Heilmann C, Helip-Wooley A, Kleta R, Gahl WA.

Mol Genet Metab. 2008 Jun;94(2):248-54. doi: 10.1016/j.ymgme.2008.02.009. Epub 2008 Apr 7.

PMID:
18397837
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

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.

Mol Genet Metab. 2008 Feb;93(2):134-44. Epub 2007 Oct 22.

PMID:
17933573
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Cellular defects in Chediak-Higashi syndrome correlate with the molecular genotype and clinical phenotype.

Westbroek W, Adams D, Huizing M, Koshoffer A, Dorward H, Tinloy B, Parkes J, Helip-Wooley A, Kleta R, Tsilou E, Duvernay P, Digre KB, Creel DJ, White JG, Boissy RE, Gahl WA.

J Invest Dermatol. 2007 Nov;127(11):2674-7. Epub 2007 May 31. No abstract available.

PMID:
17554367
[PubMed - indexed for MEDLINE]
Free Article
10.

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.

Platelets. 2007 Mar;18(2):150-7.

PMID:
17365864
[PubMed - indexed for MEDLINE]
11.

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.

J Invest Dermatol. 2007 Jun;127(6):1471-8. Epub 2007 Feb 15.

PMID:
17301833
[PubMed - indexed for MEDLINE]
Free Article
12.

A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics.

Schreyer-Shafir N, Huizing M, Anikster Y, Nusinker Z, Bejarano-Achache I, Maftzir G, Resnik L, Helip-Wooley A, Westbroek W, Gradstein L, Rosenmann A, Blumenfeld A.

Hum Mutat. 2006 Nov;27(11):1158.

PMID:
17041891
[PubMed - indexed for MEDLINE]
13.

Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin.

Helip-Wooley A, Westbroek W, Dorward H, Mommaas M, Boissy RE, Gahl WA, Huizing M.

BMC Cell Biol. 2005 Sep 13;6:33.

PMID:
16159387
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

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.

Clin Genet. 2005 Jul;68(1):23-30.

PMID:
15952982
[PubMed - indexed for MEDLINE]
15.

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.

Am J Pathol. 2005 Jan;166(1):231-40.

PMID:
15632015
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

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.

Traffic. 2004 Sep;5(9):711-22.

PMID:
15296495
[PubMed - indexed for MEDLINE]
17.

Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder.

Kleta R, Romeo E, Ristic Z, Ohura T, Stuart C, Arcos-Burgos M, Dave MH, Wagner CA, Camargo SR, Inoue S, Matsuura N, Helip-Wooley A, Bockenhauer D, Warth R, Bernardini I, Visser G, Eggermann T, Lee P, Chairoungdua A, Jutabha P, Babu E, Nilwarangkoon S, Anzai N, Kanai Y, Verrey F, Gahl WA, Koizumi A.

Nat Genet. 2004 Sep;36(9):999-1002. Epub 2004 Aug 1.

PMID:
15286787
[PubMed - indexed for MEDLINE]
18.

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.

Blood. 2004 Nov 15;104(10):3181-9. Epub 2004 Jul 20.

PMID:
15265785
[PubMed - indexed for MEDLINE]
Free Article
19.

Sucrose-induced vacuolation results in increased expression of cholesterol biosynthesis and lysosomal genes.

Helip-Wooley A, Thoene JG.

Exp Cell Res. 2004 Jan 1;292(1):89-100.

PMID:
14720509
[PubMed - indexed for MEDLINE]
20.

Lysosomal cystine storage augments apoptosis in cultured human fibroblasts and renal tubular epithelial cells.

Park M, Helip-Wooley A, Thoene J.

J Am Soc Nephrol. 2002 Dec;13(12):2878-87.

PMID:
12444206
[PubMed - indexed for MEDLINE]
Free Article

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