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Page 1
Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease.
Cornec-Le Gall E, Olson RJ, Besse W, Heyer CM, Gainullin VG, Smith JM, Audrézet MP, Hopp K, Porath B, Shi B, Baheti S, Senum SR, Arroyo J, Madsen CD, Férec C, Joly D, Jouret F, Fikri-Benbrahim O, Charasse C, Coulibaly JM, Yu AS, Khalili K, Pei Y, Somlo S, Le Meur Y, Torres VE; Genkyst Study Group; HALT Progression of Polycystic Kidney Disease Group; Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease; Harris PC. Cornec-Le Gall E, et al. Among authors: heyer cm. Am J Hum Genet. 2018 May 3;102(5):832-844. doi: 10.1016/j.ajhg.2018.03.013. Epub 2018 Apr 26. Am J Hum Genet. 2018. PMID: 29706351 Free PMC article.
Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease.
Porath B, Gainullin VG, Cornec-Le Gall E, Dillinger EK, Heyer CM, Hopp K, Edwards ME, Madsen CD, Mauritz SR, Banks CJ, Baheti S, Reddy B, Herrero JI, Bañales JM, Hogan MC, Tasic V, Watnick TJ, Chapman AB, Vigneau C, Lavainne F, Audrézet MP, Ferec C, Le Meur Y, Torres VE; Genkyst Study Group, HALT Progression of Polycystic Kidney Disease Group; Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease; Harris PC. Porath B, et al. Among authors: heyer cm. Am J Hum Genet. 2016 Jun 2;98(6):1193-1207. doi: 10.1016/j.ajhg.2016.05.004. Am J Hum Genet. 2016. PMID: 27259053 Free PMC article.
Polycystic Kidney Disease without an Apparent Family History.
Iliuta IA, Kalatharan V, Wang K, Cornec-Le Gall E, Conklin J, Pourafkari M, Ting R, Chen C, Borgo AC, He N, Song X, Heyer CM, Senum SR, Hwang YH, Paterson AD, Harris PC, Khalili K, Pei Y. Iliuta IA, et al. Among authors: heyer cm. J Am Soc Nephrol. 2017 Sep;28(9):2768-2776. doi: 10.1681/ASN.2016090938. Epub 2017 May 18. J Am Soc Nephrol. 2017. PMID: 28522688 Free PMC article.
Can we further enrich autosomal dominant polycystic kidney disease clinical trials for rapidly progressive patients? Application of the PROPKD score in the TEMPO trial.
Cornec-Le Gall E, Blais JD, Irazabal MV, Devuyst O, Gansevoort RT, Perrone RD, Chapman AB, Czerwiec FS, Ouyang J, Heyer CM, Senum SR, Le Meur Y, Torres VE, Harris PC. Cornec-Le Gall E, et al. Among authors: heyer cm. Nephrol Dial Transplant. 2018 Apr 1;33(4):645-652. doi: 10.1093/ndt/gfx188. Nephrol Dial Transplant. 2018. PMID: 28992127 Free PMC article. Clinical Trial.
The Value of Genetic Testing in Polycystic Kidney Diseases Illustrated by a Family With PKD2 and COL4A1 Mutations.
Cornec-Le Gall E, Chebib FT, Madsen CD, Senum SR, Heyer CM, Lanpher BC, Patterson MC, Albright RC, Yu AS, Torres VE; HALT Progression of Polycystic Kidney Disease Group Investigators; Harris PC. Cornec-Le Gall E, et al. Among authors: heyer cm. Am J Kidney Dis. 2018 Aug;72(2):302-308. doi: 10.1053/j.ajkd.2017.11.015. Epub 2018 Feb 1. Am J Kidney Dis. 2018. PMID: 29395486 Free PMC article.
Detection and characterization of mosaicism in autosomal dominant polycystic kidney disease.
Hopp K, Cornec-Le Gall E, Senum SR, Te Paske IBAW, Raj S, Lavu S, Baheti S, Edwards ME, Madsen CD, Heyer CM, Ong ACM, Bae KT, Fatica R, Steinman TI, Chapman AB, Gitomer B, Perrone RD, Rahbari-Oskoui FF, Torres VE; HALT Progression of Polycystic Kidney Disease Group, the ADPKD Modifier Study; Harris PC. Hopp K, et al. Among authors: heyer cm. Kidney Int. 2020 Feb;97(2):370-382. doi: 10.1016/j.kint.2019.08.038. Epub 2019 Oct 9. Kidney Int. 2020. PMID: 31874800 Free PMC article.
Predicted Mutation Strength of Nontruncating PKD1 Mutations Aids Genotype-Phenotype Correlations in Autosomal Dominant Polycystic Kidney Disease.
Heyer CM, Sundsbak JL, Abebe KZ, Chapman AB, Torres VE, Grantham JJ, Bae KT, Schrier RW, Perrone RD, Braun WE, Steinman TI, Mrug M, Yu AS, Brosnahan G, Hopp K, Irazabal MV, Bennett WM, Flessner MF, Moore CG, Landsittel D, Harris PC; HALT PKD and CRISP Investigators. Heyer CM, et al. J Am Soc Nephrol. 2016 Sep;27(9):2872-84. doi: 10.1681/ASN.2015050583. Epub 2016 Jan 28. J Am Soc Nephrol. 2016. PMID: 26823553 Free PMC article.
Germline PKHD1 mutations are protective against colorectal cancer.
Ward CJ, Wu Y, Johnson RA, Woollard JR, Bergstralh EJ, Cicek MS, Bakeberg J, Rossetti S, Heyer CM, Petersen GM, Lindor NM, Thibodeau SN, Harris PC, Torres VE, Hogan MC, Boardman LA. Ward CJ, et al. Among authors: heyer cm. Hum Genet. 2011 Mar;129(3):345-9. doi: 10.1007/s00439-011-0950-8. Epub 2011 Jan 28. Hum Genet. 2011. PMID: 21274727 Free PMC article.
111 results