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Page 1
Hermansky-Pudlak syndrome type 1 in patients of Indian descent.
Vincent LM, Adams D, Hess RA, Ziegler SG, Tsilou E, Golas G, O'Brien KJ, White JG, Huizing M, Gahl WA. Vincent LM, et al. Among authors: golas g. Mol Genet Metab. 2009 Jul;97(3):227-33. doi: 10.1016/j.ymgme.2009.03.011. Epub 2009 Apr 2. Mol Genet Metab. 2009. PMID: 19398212 Free PMC article.
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: golas g. 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 mutations in the HPS1 gene among Puerto Rican patients.
Carmona-Rivera C, Hess RA, O'Brien K, Golas G, Tsilou E, White JG, Gahl WA, Huizing M. Carmona-Rivera C, et al. Among authors: golas g. Clin Genet. 2011 Jun;79(6):561-7. doi: 10.1111/j.1399-0004.2010.01491.x. Clin Genet. 2011. PMID: 20662851
Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity.
Adams DR, Yuan H, Holyoak T, Arajs KH, Hakimi P, Markello TC, Wolfe LA, Vilboux T, Burton BK, Fajardo KF, Grahame G, Holloman C, Sincan M, Smith AC, Wells GA, Huang Y, Vega H, Snyder JP, Golas GA, Tifft CJ, Boerkoel CF, Hanson RW, Traynelis SF, Kerr DS, Gahl WA. Adams DR, et al. Among authors: golas ga. Mol Genet Metab. 2014 Nov;113(3):161-70. doi: 10.1016/j.ymgme.2014.04.001. Epub 2014 Apr 13. Mol Genet Metab. 2014. PMID: 24863970 Free PMC article.
Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors.
Lam C, Golas GA, Davids M, Huizing M, Kane MS, Krasnewich DM, Malicdan MCV, Adams DR, Markello TC, Zein WM, Gropman AL, Lodish MB, Stratakis CA, Maric I, Rosenzweig SD, Baker EH, Ferreira CR, Danylchuk NR, Kahler S, Garnica AD, Bradley Schaefer G, Boerkoel CF, Gahl WA, Wolfe LA. Lam C, et al. Among authors: golas ga. Mol Genet Metab. 2015 Jun-Jul;115(2-3):128-140. doi: 10.1016/j.ymgme.2015.04.007. Epub 2015 May 1. Mol Genet Metab. 2015. PMID: 25943031 Free PMC article.
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: golas ga. Neurology. 2016 Apr 5;86(14):1320-1328. doi: 10.1212/WNL.0000000000002551. Epub 2016 Mar 4. Neurology. 2016. Retracted and republished in: Neurology. 2017 Feb 14;88(7):e57-e65. doi: 10.1212/WNL.0000000000003622 PMID: 26944273 Free PMC article. Retracted and republished.
44 results