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Molecular defects that affect platelet dense granules.
Gunay-Aygun M, Huizing M, Gahl WA. Gunay-Aygun M, et al. Semin Thromb Hemost. 2004 Oct;30(5):537-47. doi: 10.1055/s-2004-835674. Semin Thromb Hemost. 2004. PMID: 15497096 Free PMC article. Review.
Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: summary statement of a first National Institutes of Health/Office of Rare Diseases conference.
Gunay-Aygun M, Avner ED, Bacallao RL, Choyke PL, Flynn JT, Germino GG, Guay-Woodford L, Harris P, Heller T, Ingelfinger J, Kaskel F, Kleta R, LaRusso NF, Mohan P, Pazour GJ, Shneider BL, Torres VE, Wilson P, Zak C, Zhou J, Gahl WA. Gunay-Aygun M, et al. J Pediatr. 2006 Aug;149(2):159-64. doi: 10.1016/j.jpeds.2006.03.014. J Pediatr. 2006. PMID: 16887426 Free PMC article.
MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome.
Gunay-Aygun M, Parisi MA, Doherty D, Tuchman M, Tsilou E, Kleiner DE, Huizing M, Turkbey B, Choyke P, Guay-Woodford L, Heller T, Szymanska K, Johnson CA, Glass I, Gahl WA. Gunay-Aygun M, et al. J Pediatr. 2009 Sep;155(3):386-92.e1. doi: 10.1016/j.jpeds.2009.03.045. Epub 2009 Jun 21. J Pediatr. 2009. PMID: 19540516 Free PMC article. Clinical Trial.
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. 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.
Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease.
Gunay-Aygun M, Font-Montgomery E, Lukose L, Tuchman M, Graf J, Bryant JC, Kleta R, Garcia A, Edwards H, Piwnica-Worms K, Adams D, Bernardini I, Fischer RE, Krasnewich D, Oden N, Ling A, Quezado Z, Zak C, Daryanani KT, Turkbey B, Choyke P, Guay-Woodford LM, Gahl WA. Gunay-Aygun M, et al. Clin J Am Soc Nephrol. 2010 Jun;5(6):972-84. doi: 10.2215/CJN.07141009. Epub 2010 Apr 22. Clin J Am Soc Nephrol. 2010. PMID: 20413436 Free PMC article.
81 results