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Page 1
Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency.
Stephen J, Vilboux T, Mian L, Kuptanon C, Sinclair CM, Yildirimli D, Maynard DM, Bryant J, Fischer R, Vemulapalli M, Mullikin JC; NISC Comparative Sequencing Program; Huizing M, Gahl WA, Malicdan MCV, Gunay-Aygun M. Stephen J, et al. Among authors: bryant j. Hum Genet. 2017 Apr;136(4):399-408. doi: 10.1007/s00439-017-1765-z. Epub 2017 Feb 20. Hum Genet. 2017. PMID: 28220259 Free PMC article.
Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF).
Turkbey B, Ocak I, Daryanani K, Font-Montgomery E, Lukose L, Bryant J, Tuchman M, Mohan P, Heller T, Gahl WA, Choyke PL, Gunay-Aygun M. Turkbey B, et al. Among authors: bryant j. Pediatr Radiol. 2009 Feb;39(2):100-11. doi: 10.1007/s00247-008-1064-x. Epub 2008 Dec 17. Pediatr Radiol. 2009. PMID: 19089418 Free PMC article. 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: bryant j. 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. Among authors: bryant jc. 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.
A 3-year randomized therapeutic trial of nitisinone in alkaptonuria.
Introne WJ, Perry MB, Troendle J, Tsilou E, Kayser MA, Suwannarat P, O'Brien KE, Bryant J, Sachdev V, Reynolds JC, Moylan E, Bernardini I, Gahl WA. Introne WJ, et al. Among authors: bryant j. Mol Genet Metab. 2011 Aug;103(4):307-14. doi: 10.1016/j.ymgme.2011.04.016. Epub 2011 May 6. Mol Genet Metab. 2011. PMID: 21620748 Free PMC article. Clinical Trial.
Congenital hepatic fibrosis and portal hypertension in autosomal dominant polycystic kidney disease.
O'Brien K, Font-Montgomery E, Lukose L, Bryant J, Piwnica-Worms K, Edwards H, Riney L, Garcia A, Daryanani K, Choyke P, Mohan P, Heller T, Gahl WA, Gunay-Aygun M. O'Brien K, et al. Among authors: bryant j. J Pediatr Gastroenterol Nutr. 2012 Jan;54(1):83-9. doi: 10.1097/MPG.0b013e318228330c. J Pediatr Gastroenterol Nutr. 2012. PMID: 21694639 Free PMC article. Clinical Trial.
Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease.
Gunay-Aygun M, Font-Montgomery E, Lukose L, Tuchman Gerstein M, Piwnica-Worms K, Choyke P, Daryanani KT, Turkbey B, Fischer R, Bernardini I, Sincan M, Zhao X, Sandler NG, Roque A, Douek DC, Graf J, Huizing M, Bryant JC, Mohan P, Gahl WA, Heller T. Gunay-Aygun M, et al. Among authors: bryant jc. Gastroenterology. 2013 Jan;144(1):112-121.e2. doi: 10.1053/j.gastro.2012.09.056. Epub 2012 Oct 3. Gastroenterology. 2013. PMID: 23041322 Free PMC article. Clinical Trial.
Pregnancy in autosomal recessive polycystic kidney disease.
Banks N, Bryant J, Fischer R, Huizing M, Gahl WA, Gunay-Aygun M. Banks N, et al. Among authors: bryant j. Arch Gynecol Obstet. 2015 Mar;291(3):705-8. doi: 10.1007/s00404-014-3445-8. Epub 2014 Sep 12. Arch Gynecol Obstet. 2015. PMID: 25214022 Free PMC article.
1,841 results