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Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.
Boyden LM, Choi M, Choate KA, Nelson-Williams CJ, Farhi A, Toka HR, Tikhonova IR, Bjornson R, Mane SM, Colussi G, Lebel M, Gordon RD, Semmekrot BA, Poujol A, Välimäki MJ, De Ferrari ME, Sanjad SA, Gutkin M, Karet FE, Tucci JR, Stockigt JR, Keppler-Noreuil KM, Porter CC, Anand SK, Whiteford ML, Davis ID, Dewar SB, Bettinelli A, Fadrowski JJ, Belsha CW, Hunley TE, Nelson RD, Trachtman H, Cole TR, Pinsk M, Bockenhauer D, Shenoy M, Vaidyanathan P, Foreman JW, Rasoulpour M, Thameem F, Al-Shahrouri HZ, Radhakrishnan J, Gharavi AG, Goilav B, Lifton RP. Boyden LM, et al. Among authors: foreman jw. Nature. 2012 Jan 22;482(7383):98-102. doi: 10.1038/nature10814. Nature. 2012. PMID: 22266938 Free PMC article.
Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination.
Otto EA, Schermer B, Obara T, O'Toole JF, Hiller KS, Mueller AM, Ruf RG, Hoefele J, Beekmann F, Landau D, Foreman JW, Goodship JA, Strachan T, Kispert A, Wolf MT, Gagnadoux MF, Nivet H, Antignac C, Walz G, Drummond IA, Benzing T, Hildebrandt F. Otto EA, et al. Among authors: foreman jw. Nat Genet. 2003 Aug;34(4):413-20. doi: 10.1038/ng1217. Nat Genet. 2003. PMID: 12872123 Free PMC article.
HLA-DQA1 and PLCG2 Are Candidate Risk Loci for Childhood-Onset Steroid-Sensitive Nephrotic Syndrome.
Gbadegesin RA, Adeyemo A, Webb NJ, Greenbaum LA, Abeyagunawardena A, Thalgahagoda S, Kale A, Gipson D, Srivastava T, Lin JJ, Chand D, Hunley TE, Brophy PD, Bagga A, Sinha A, Rheault MN, Ghali J, Nicholls K, Abraham E, Janjua HS, Omoloja A, Barletta GM, Cai Y, Milford DD, O'Brien C, Awan A, Belostotsky V, Smoyer WE, Homstad A, Hall G, Wu G, Nagaraj S, Wigfall D, Foreman J, Winn MP; Mid-West Pediatric Nephrology Consortium. Gbadegesin RA, et al. J Am Soc Nephrol. 2015 Jul;26(7):1701-10. doi: 10.1681/ASN.2014030247. Epub 2014 Oct 27. J Am Soc Nephrol. 2015. PMID: 25349203 Free PMC article.
TNXB mutations can cause vesicoureteral reflux.
Gbadegesin RA, Brophy PD, Adeyemo A, Hall G, Gupta IR, Hains D, Bartkowiak B, Rabinovich CE, Chandrasekharappa S, Homstad A, Westreich K, Wu G, Liu Y, Holanda D, Clarke J, Lavin P, Selim A, Miller S, Wiener JS, Ross SS, Foreman J, Rotimi C, Winn MP. Gbadegesin RA, et al. J Am Soc Nephrol. 2013 Jul;24(8):1313-22. doi: 10.1681/ASN.2012121148. Epub 2013 Apr 25. J Am Soc Nephrol. 2013. PMID: 23620400 Free PMC article.
Rare variants in tenascin genes in a cohort of children with primary vesicoureteric reflux.
Elahi S, Homstad A, Vaidya H, Stout J, Hall G, Wu G, Conlon P Jr, Routh JC, Wiener JS, Ross SS, Nagaraj S, Wigfall D, Foreman J, Adeyemo A, Gupta IR, Brophy PD, Rabinovich CE, Gbadegesin RA. Elahi S, et al. Pediatr Nephrol. 2016 Feb;31(2):247-53. doi: 10.1007/s00467-015-3203-6. Epub 2015 Sep 25. Pediatr Nephrol. 2016. PMID: 26408188 Free PMC article.
Recurrence of nephrotic syndrome following kidney transplantation is associated with initial native kidney biopsy findings.
Pelletier JH, Kumar KR, Engen R, Bensimhon A, Varner JD, Rheault MN, Srivastava T, Straatmann C, Silva C, Davis TK, Wenderfer SE, Gibson K, Selewski D, Barcia J, Weng P, Licht C, Jawa N, Kallash M, Foreman JW, Wigfall DR, Chua AN, Chambers E, Hornik CP, Brewer ED, Nagaraj SK, Greenbaum LA, Gbadegesin RA. Pelletier JH, et al. Among authors: foreman jw. Pediatr Nephrol. 2018 Oct;33(10):1773-1780. doi: 10.1007/s00467-018-3994-3. Epub 2018 Jul 7. Pediatr Nephrol. 2018. PMID: 29982878 Free PMC article.
Correction to: Recurrence of nephrotic syndrome following kidney transplantation is associated with initial native kidney biopsy findings : A Midwest Pediatric Nephrology Consortium (MWPNC) study.
Pelletier JH, Kumar KR, Engen R, Bensimhon A, Varner JD, Rheault MN, Srivastava T, Straatmann C, Silva C, Davis TK, Wenderfer SE, Gibson K, Selewski D, Barcia J, Weng P, Licht C, Jawa N, Kallash M, Foreman JW, Wigfall DR, Chua AN, Chambers E, Hornik CP, Brewer ED, Nagaraj SK, Greenbaum LA, Gbadegesin RA. Pelletier JH, et al. Among authors: foreman jw. Pediatr Nephrol. 2019 Mar;34(3):539. doi: 10.1007/s00467-018-4103-3. Pediatr Nephrol. 2019. PMID: 30443740
76 results