Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

164 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
First NIH/Office of Rare Diseases Conference on Cystinosis: past, present, and future.
Kleta R, Kaskel F, Dohil R, Goodyer P, Guay-Woodford LM, Harms E, Ingelfinger JR, Koch VH, Langman CB, Leonard MB, Mannon RB, Sarwal M, Schneider JA, Skovby F, Sonies BC, Thoene JG, Trauner DA, Gahl WA; NIH Office of Rare Diseases. Kleta R, et al. Pediatr Nephrol. 2005 Apr;20(4):452-4. doi: 10.1007/s00467-004-1777-5. Epub 2005 Jan 27. Pediatr Nephrol. 2005. PMID: 15747161 Review. No abstract available.
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.
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.
Common Elements in Rare Kidney Diseases: Conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.
Aymé S, Bockenhauer D, Day S, Devuyst O, Guay-Woodford LM, Ingelfinger JR, Klein JB, Knoers NVAM, Perrone RD, Roberts J, Schaefer F, Torres VE, Cheung M, Wheeler DC, Winkelmayer WC; Conference Participants. Aymé S, et al. Kidney Int. 2017 Oct;92(4):796-808. doi: 10.1016/j.kint.2017.06.018. Kidney Int. 2017. PMID: 28938953 Free PMC article.
Clinical Features and Histology of Apolipoprotein L1-Associated Nephropathy in the FSGS Clinical Trial.
Kopp JB, Winkler CA, Zhao X, Radeva MK, Gassman JJ, D'Agati VD, Nast CC, Wei C, Reiser J, Guay-Woodford LM, Pollak MR, Hildebrandt F, Moxey-Mims M, Gipson DS, Trachtman H, Friedman AL, Kaskel FJ; FSGS-CT Study Consortium. Kopp JB, et al. J Am Soc Nephrol. 2015 Jun;26(6):1443-8. doi: 10.1681/ASN.2013111242. Epub 2015 Jan 8. J Am Soc Nephrol. 2015. PMID: 25573908 Free PMC article. Clinical Trial.
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.
Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.
Cabezas OR, Flanagan SE, Stanescu H, García-Martínez E, Caswell R, Lango-Allen H, Antón-Gamero M, Argente J, Bussell AM, Brandli A, Cheshire C, Crowne E, Dumitriu S, Drynda R, Hamilton-Shield JP, Hayes W, Hofherr A, Iancu D, Issler N, Jefferies C, Jones P, Johnson M, Kesselheim A, Klootwijk E, Koettgen M, Lewis W, Martos JM, Mozere M, Norman J, Patel V, Parrish A, Pérez-Cerdá C, Pozo J, Rahman SA, Sebire N, Tekman M, Turnpenny PD, Hoff WV, Viering DHHM, Weedon MN, Wilson P, Guay-Woodford L, Kleta R, Hussain K, Ellard S, Bockenhauer D. Cabezas OR, et al. J Am Soc Nephrol. 2017 Aug;28(8):2529-2539. doi: 10.1681/ASN.2016121312. Epub 2017 Apr 3. J Am Soc Nephrol. 2017. PMID: 28373276 Free PMC article.
Clinical Characteristics and Treatment Patterns of Children and Adults With IgA Nephropathy or IgA Vasculitis: Findings From the CureGN Study.
Selewski DT, Ambruzs JM, Appel GB, Bomback AS, Matar RB, Cai Y, Cattran DC, Chishti AS, D'Agati VD, D'Alessandri-Silva CJ, Gbadegesin RA, Hogan JJ, Iragorri S, Jennette JC, Julian BA, Khalid M, Lafayette RA, Liapis H, Lugani F, Mansfield SA, Mason S, Nachman PH, Nast CC, Nester CM, Noone DG, Novak J, O'Shaughnessy MM, Reich HN, Rheault MN, Rizk DV, Saha MK, Sanghani NS, Sperati CJ, Sreedharan R, Srivastava T, Swiatecka-Urban A, Twombley K, Vasylyeva TL, Weaver DJ, Yin H, Zee J, Falk RJ, Gharavi AG, Gillespie BW, Gipson DS, Greenbaum LA, Holzman LB, Kretzler M, Robinson BM, Smoyer WE, Flessner M, Guay-Woodford LM, Kiryluk K; CureGN Consortium. Selewski DT, et al. Kidney Int Rep. 2018 Aug 3;3(6):1373-1384. doi: 10.1016/j.ekir.2018.07.021. eCollection 2018 Nov. Kidney Int Rep. 2018. PMID: 30450464 Free PMC article.
164 results