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Page 1
CTNS mutations in an American-based population of cystinosis patients.
Shotelersuk V, Larson D, Anikster Y, McDowell G, Lemons R, Bernardini I, Guo J, Thoene J, Gahl WA. Shotelersuk V, et al. Among authors: bernardini i. Am J Hum Genet. 1998 Nov;63(5):1352-62. doi: 10.1086/302118. Am J Hum Genet. 1998. PMID: 9792862 Free PMC article.
Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations.
Anikster Y, Lucero C, Guo J, Huizing M, Shotelersuk V, Bernardini I, McDowell G, Iwata F, Kaiser-Kupfer MI, Jaffe R, Thoene J, Schneider JA, Gahl WA. Anikster Y, et al. Among authors: bernardini i. Pediatr Res. 2000 Jan;47(1):17-23. doi: 10.1203/00006450-200001000-00007. Pediatr Res. 2000. PMID: 10625078
CTNS mutations in African American patients with cystinosis.
Kleta R, Anikster Y, Lucero C, Shotelersuk V, Huizing M, Bernardini I, Park M, Thoene J, Schneider J, Gahl WA. Kleta R, et al. Among authors: bernardini i. Mol Genet Metab. 2001 Nov;74(3):332-7. doi: 10.1006/mgme.2001.3218. Mol Genet Metab. 2001. PMID: 11708862
Pirfenidone for the treatment of Hermansky-Pudlak syndrome pulmonary fibrosis.
O'Brien K, Troendle J, Gochuico BR, Markello TC, Salas J, Cardona H, Yao J, Bernardini I, Hess R, Gahl WA. O'Brien K, et al. Among authors: bernardini i. Mol Genet Metab. 2011 Jun;103(2):128-34. doi: 10.1016/j.ymgme.2011.02.003. Epub 2011 Mar 21. Mol Genet Metab. 2011. PMID: 21420888 Free PMC article. Clinical Trial.
Use of nitisinone in patients with alkaptonuria.
Suwannarat P, O'Brien K, Perry MB, Sebring N, Bernardini I, Kaiser-Kupfer MI, Rubin BI, Tsilou E, Gerber LH, Gahl WA. Suwannarat P, et al. Among authors: bernardini i. Metabolism. 2005 Jun;54(6):719-28. doi: 10.1016/j.metabol.2004.12.017. Metabolism. 2005. PMID: 15931605
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: bernardini i. 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.
125 results