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Neurologic involvement in patients with atypical Chediak-Higashi disease.
Introne WJ, Westbroek W, Cullinane AR, Groden CA, Bhambhani V, Golas GA, Baker EH, Lehky TJ, Snow J, Ziegler SG, Adams DR, Dorward HM, Hess RA, Huizing M, Gahl WA, Toro C. Introne WJ, et al. Among authors: dorward hm. Neurology. 2016 Apr 5;86(14):1320-1328. doi: 10.1212/WNL.0000000000002551. Epub 2016 Mar 4. Neurology. 2016. PMID: 26944273 Free PMC article. Corrected and republished.
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. Westbroek W, et al. J Invest Dermatol. 2007 Nov;127(11):2674-7. doi: 10.1038/sj.jid.5700899. Epub 2007 May 31. J Invest Dermatol. 2007. PMID: 17554367 Free article. No abstract available.
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.
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.
33 results