Dorward HM - Search Results

1

Progressive pulmonary fibrosis in a murine model of Hermansky-Pudlak syndrome.

Abudi-Sinreich S, Bodine SP, Yokoyama T, Tolman NJ, Tyrlik M, Testa LC, Han CG, Dorward HM, Wincovitch SM, Anikster Y, Gahl WA, Cinar R, Gochuico BR, Malicdan MCV. Abudi-Sinreich S, et al. Among authors: dorward hm. Respir Res. 2022 May 4;23(1):112. doi: 10.1186/s12931-022-02002-z. Respir Res. 2022. PMID: 35509004 Free PMC article.

2

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.

3

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. Helip-Wooley A, et al. BMC Cell Biol. 2005 Sep 13;6:33. doi: 10.1186/1471-2121-6-33. BMC Cell Biol. 2005. PMID: 16159387 Free PMC article.

4

Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study.

Sparks S, Rakocevic G, Joe G, Manoli I, Shrader J, Harris-Love M, Sonies B, Ciccone C, Dorward H, Krasnewich D, Huizing M, Dalakas MC, Gahl WA. Sparks S, et al. BMC Neurol. 2007 Jan 29;7:3. doi: 10.1186/1471-2377-7-3. BMC Neurol. 2007. PMID: 17261181 Free PMC 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. Among authors: dorward hm. 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

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. 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.

7

OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria.

Huizing M, Dorward H, Ly L, Klootwijk E, Kleta R, Skovby F, Pei W, Feldman B, Gahl WA, Anikster Y. Huizing M, et al. Mol Genet Metab. 2010 Jun;100(2):149-54. doi: 10.1016/j.ymgme.2010.03.005. Epub 2010 Mar 16. Mol Genet Metab. 2010. PMID: 20350831 Free PMC article.

8

Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2.

Vincent LM, Gilbert F, DiPace JI, Ciccone C, Markello TC, Jeong A, Dorward H, Westbroek W, Gahl WA, Bussel JB, Huizing M. Vincent LM, et al. Mol Genet Metab. 2010 Sep;101(1):62-5. doi: 10.1016/j.ymgme.2010.05.015. Epub 2010 Jun 10. Mol Genet Metab. 2010. PMID: 20591709 Free PMC article.

9

A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3.

Pei W, Kratz LE, Bernardini I, Sood R, Yokogawa T, Dorward H, Ciccone C, Kelley RI, Anikster Y, Burgess HA, Huizing M, Feldman B. Pei W, et al. Development. 2010 Aug 1;137(15):2587-96. doi: 10.1242/dev.043745. Development. 2010. PMID: 20627962 Free PMC article.

10

Vascular pathology of medial arterial calcifications in NT5E deficiency: implications for the role of adenosine in pseudoxanthoma elasticum.

Markello TC, Pak LK, St Hilaire C, Dorward H, Ziegler SG, Chen MY, Chaganti K, Nussbaum RL, Boehm M, Gahl WA. Markello TC, et al. Mol Genet Metab. 2011 May;103(1):44-50. doi: 10.1016/j.ymgme.2011.01.018. Epub 2011 Feb 3. Mol Genet Metab. 2011. PMID: 21371928 Free PMC article.

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