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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: ziegler sg. 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.
Neurologic involvement in patients with atypical Chediak-Higashi disease.
Introne WJ, Westbroek W, Groden CA, Bhambhani V, Golas GA, Baker EH, Lehky TJ, Snow J, Ziegler SG, Malicdan MC, Adams DR, Dorward HM, Hess RA, Huizing M, Gahl WA, Toro C. Introne WJ, et al. Among authors: ziegler sg. Neurology. 2017 Feb 14;88(7):e57-e65. doi: 10.1212/WNL.0000000000003622. Neurology. 2017. PMID: 28193763 Free PMC article.
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: ziegler sg. 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.
Cellular and clinical report of new Griscelli syndrome type III cases.
Westbroek W, Klar A, Cullinane AR, Ziegler SG, Hurvitz H, Ganem A, Wilson K, Dorward H, Huizing M, Tamimi H, Vainshtein I, Berkun Y, Lavie M, Gahl WA, Anikster Y. Westbroek W, et al. Among authors: ziegler sg. Pigment Cell Melanoma Res. 2012 Jan;25(1):47-56. doi: 10.1111/j.1755-148X.2011.00901.x. Epub 2011 Oct 3. Pigment Cell Melanoma Res. 2012. PMID: 21883982 Free PMC article.
The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations.
Janecke AR, Li B, Boehm M, Krabichler B, Rohrbach M, Müller T, Fuchs I, Golas G, Katagiri Y, Ziegler SG, Gahl WA, Wilnai Y, Zoppi N, Geller HM, Giunta C, Slavotinek A, Steinmann B. Janecke AR, et al. Among authors: ziegler sg. Am J Med Genet A. 2016 Jan;170A(1):103-15. doi: 10.1002/ajmg.a.37383. Epub 2015 Sep 16. Am J Med Genet A. 2016. PMID: 26373698 Free PMC article.
Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program.
Montano C, Cassini T, Ziegler SG, Boehm M, Nicoli ER, Mindell JA, Soldatos AG, Manoli I, Wolfe L, Macnamara EF, Malicdan MCV, Adams DR, Tifft CJ, Toro C, Gahl WA. Montano C, et al. Among authors: ziegler sg. J Inherit Metab Dis. 2022 Sep;45(5):907-918. doi: 10.1002/jimd.12506. Epub 2022 May 16. J Inherit Metab Dis. 2022. PMID: 35490291 Review.
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.
Gunay-Aygun M, Tuchman M, Font-Montgomery E, Lukose L, Edwards H, Garcia A, Ausavarat S, Ziegler SG, Piwnica-Worms K, Bryant J, Bernardini I, Fischer R, Huizing M, Guay-Woodford L, Gahl WA. Gunay-Aygun M, et al. Among authors: ziegler sg. Mol Genet Metab. 2010 Feb;99(2):160-73. doi: 10.1016/j.ymgme.2009.10.010. Epub 2009 Oct 20. Mol Genet Metab. 2010. PMID: 19914852 Free PMC article.
31 results