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Page 1
Ancient eukaryotic protein interactions illuminate modern genetic traits and disorders.
Cox RM, Papoulas O, Shril S, Lee C, Gardner T, Battenhouse AM, Lee M, Drew K, McWhite CD, Yang D, Leggere JC, Durand D, Hildebrandt F, Wallingford JB, Marcotte EM. Cox RM, et al. Among authors: hildebrandt f. bioRxiv [Preprint]. 2024 May 29:2024.05.26.595818. doi: 10.1101/2024.05.26.595818. bioRxiv. 2024. PMID: 38853926 Free PMC article. Preprint.
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.
Toriyama M, Lee C, Taylor SP, Duran I, Cohn DH, Bruel AL, Tabler JM, Drew K, Kelly MR, Kim S, Park TJ, Braun DA, Pierquin G, Biver A, Wagner K, Malfroot A, Panigrahi I, Franco B, Al-Lami HA, Yeung Y, Choi YJ; University of Washington Center for Mendelian Genomics; Duffourd Y, Faivre L, Rivière JB, Chen J, Liu KJ, Marcotte EM, Hildebrandt F, Thauvin-Robinet C, Krakow D, Jackson PK, Wallingford JB. Toriyama M, et al. Among authors: hildebrandt f. Nat Genet. 2016 Jun;48(6):648-56. doi: 10.1038/ng.3558. Epub 2016 May 9. Nat Genet. 2016. PMID: 27158779 Free PMC article.
The genetics and pathogenesis of CAKUT.
Kolvenbach CM, Shril S, Hildebrandt F. Kolvenbach CM, et al. Among authors: hildebrandt f. Nat Rev Nephrol. 2023 Nov;19(11):709-720. doi: 10.1038/s41581-023-00742-9. Epub 2023 Jul 31. Nat Rev Nephrol. 2023. PMID: 37524861 Review.
Genetic Contributions to Lower Urinary Tract Dysfunction.
Hiltebeitel LR, Seltzsam S, Wang C, Lee T, Bolsius L, Shalaby M, El Desoky S, Kari JA, Shril S, Hildebrandt F, Mann N. Hiltebeitel LR, et al. Among authors: hildebrandt f. Am J Med Genet A. 2024 Sep 4:e63859. doi: 10.1002/ajmg.a.63859. Online ahead of print. Am J Med Genet A. 2024. PMID: 39229650
Corrigendum: The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.
Toriyama M, Lee C, Taylor SP, Duran I, Cohn DH, Bruel AL, Tabler JM, Drew K, Kelly MR, Kim S, Park TJ, Braun DA, Pierquin G, Biver A, Wagner K, Malfroot A, Panigrahi I, Franco B, Al-Lami HA, Yeung Y, Choi YJ; University of Washington Center for Mendelian Genomics; Duffourd Y, Faivre L, Rivière JB, Chen J, Liu KJ, Marcotte EM, Hildebrandt F, Thauvin-Robinet C, Krakow D, Jackson PK, Wallingford JB. Toriyama M, et al. Among authors: hildebrandt f. Nat Genet. 2016 Jul 27;48(8):970. doi: 10.1038/ng0816-970b. Nat Genet. 2016. PMID: 27463398 No abstract available.
Natural History and Clinicopathological Associations of TRPC6-Associated Podocytopathy.
Wooden B, Beenken A, Martinelli E, Saida K, Knob AL, Ke J, Pisani I, Jin G, Lane B, Mitrotti A, Colby E, Lim TY, Guglielmi F, Osborne AJ, Ahram DF, Wang C, Armand F, Zanoni F, Bomback AS, Delsante M, Appel GB, Ferrari MRA, Martino J, Sahdeo S, Breckenridge D, Petrovski S, Paul DS, Hall G, Magistroni R, Murtas C, Feriozzi S, Rampino T, Esposito P, Helmuth ME, Sampson MG, Kretzler M, Kiryluk K, Shril S, Gesualdo L, Maggiore U, Fiaccadori E, Gbadegesin R, Santoriello D, D'Agati VD, Saleem MA, Gharavi AG, Hildebrandt F, Pollak MR, Goldstein DB, Sanna-Cherchi S. Wooden B, et al. Among authors: hildebrandt f. J Am Soc Nephrol. 2024 Oct 1. doi: 10.1681/ASN.0000000501. Online ahead of print. J Am Soc Nephrol. 2024. PMID: 39352759
Epigenomic and phenotypic characterization of DEGCAGS syndrome.
Karimi K, Weis D, Aukrust I, Hsieh TC, Horackova M, Paulsen J, Mendoza Londono R, Dupuis L, Dickson M, Lesman H, Lau T, Murphy D, Hama Salih K, Al-Musawi BMS, Al-Obaidi RGY, Rydzanicz M, Biela M, Santos MS, Aldeeri A, Gazda HT, Pais L, Shril S, Døllner H, Bartakke S, Laccone F, Soltysova A, Kitzler T, Soliman NA, Relator R, Levy MA, Kerkhof J, Rzasa J, Houlden H, Pilshofer GV, Jobst-Schwan T, Hildebrandt F, Sousa SB, Maroofian R, Yu TW, Krawitz P, Sadikovic B, Douzgou Houge S. Karimi K, et al. Among authors: hildebrandt f. Eur J Hum Genet. 2024 Oct 19. doi: 10.1038/s41431-024-01702-y. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39424669
Targeted sequencing of 96 renal developmental microRNAs in 1213 individuals from 980 families with congenital anomalies of the kidney and urinary tract.
Kohl S, Chen J, Vivante A, Hwang DY, Shril S, Dworschak GC, Van Der Ven A, Sanna-Cherchi S, Bauer SB, Lee RS, Soliman NA, Kehinde EO, Reutter HM, Tasic V, Hildebrandt F. Kohl S, et al. Among authors: hildebrandt f. Nephrol Dial Transplant. 2016 Aug;31(8):1280-3. doi: 10.1093/ndt/gfv447. Epub 2016 Jan 29. Nephrol Dial Transplant. 2016. PMID: 26908769 Free PMC article.
Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract.
Vivante A, Hwang DY, Kohl S, Chen J, Shril S, Schulz J, van der Ven A, Daouk G, Soliman NA, Kumar AS, Senguttuvan P, Kehinde EO, Tasic V, Hildebrandt F. Vivante A, et al. Among authors: hildebrandt f. J Am Soc Nephrol. 2017 Jan;28(1):69-75. doi: 10.1681/ASN.2015080962. Epub 2016 May 5. J Am Soc Nephrol. 2017. PMID: 27151922 Free PMC article.
472 results