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262 related items for PubMed ID: 19096086
1. Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome. Brochard K, Boyer O, Blanchard A, Loirat C, Niaudet P, Macher MA, Deschenes G, Bensman A, Decramer S, Cochat P, Morin D, Broux F, Caillez M, Guyot C, Novo R, Jeunemaître X, Vargas-Poussou R. Nephrol Dial Transplant; 2009 May; 24(5):1455-64. PubMed ID: 19096086 [Abstract] [Full Text] [Related]
3. Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome. Konrad M, Vollmer M, Lemmink HH, VAN DEN Heuvel LPWJ, Jeck N, Vargas-Poussou R, Lakings A, Ruf R, Deschênes G, Antignac C, Guay-Woodford L, Knoers NVAM, Seyberth HW, Feldmann D, Hildebrandt F. J Am Soc Nephrol; 2000 Aug; 11(8):1449-1459. PubMed ID: 10906158 [Abstract] [Full Text] [Related]
11. Transient hyponatremia of prematurity caused by mild Bartter syndrome type II: a case report. Verma S, Chanchlani R, Siu VM, Filler G. BMC Pediatr; 2020 Jun 26; 20(1):311. PubMed ID: 32590952 [Abstract] [Full Text] [Related]
12. Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis. Najafi M, Kordi-Tamandani DM, Behjati F, Sadeghi-Bojd S, Bakey Z, Karimiani EG, Schüle I, Azarfar A, Schmidts M. Orphanet J Rare Dis; 2019 Feb 13; 14(1):41. PubMed ID: 30760291 [Abstract] [Full Text] [Related]
14. The pharmacological characteristics of molecular-based inherited salt-losing tubulopathies. Nozu K, Iijima K, Kanda K, Nakanishi K, Yoshikawa N, Satomura K, Kaito H, Hashimura Y, Ninchoji T, Komatsu H, Kamei K, Miyashita R, Kugo M, Ohashi H, Yamazaki H, Mabe H, Otsubo A, Igarashi T, Matsuo M. J Clin Endocrinol Metab; 2010 Dec 13; 95(12):E511-8. PubMed ID: 20810575 [Abstract] [Full Text] [Related]
15. Novel SLC12A1 (NKCC2) mutations in two families with Bartter syndrome type 1. Adachi M, Asakura Y, Sato Y, Tajima T, Nakajima T, Yamamoto T, Fujieda K. Endocr J; 2007 Dec 13; 54(6):1003-7. PubMed ID: 17998760 [Abstract] [Full Text] [Related]
16. Long-term outcome of Bartter syndrome in 54 patients: A multicenter study in Korea. Choi N, Kim SH, Bae EH, Yang EM, Lee KH, Lee SH, Lee JH, Ahn YH, Cheong HI, Kang HG, Hyun HS, Kim JH. Front Med (Lausanne); 2023 Dec 13; 10():1099840. PubMed ID: 36993809 [Abstract] [Full Text] [Related]
17. Isolated nephrocalcinosis due to compound heterozygous mutations in renal outer medullary potassium channel. Khandelwal P, Sabanadesan J, Sinha A, Hari P, Bagga A. CEN Case Rep; 2020 Aug 13; 9(3):232-236. PubMed ID: 32185747 [Abstract] [Full Text] [Related]
18. Transient neonatal hyperkalemia in the antenatal (ROMK defective) Bartter syndrome. Finer G, Shalev H, Birk OS, Galron D, Jeck N, Sinai-Treiman L, Landau D. J Pediatr; 2003 Mar 13; 142(3):318-23. PubMed ID: 12640382 [Abstract] [Full Text] [Related]
19. A novel homozygous CLCNKB variant: An early presentation of classic Bartter syndrome in a neonate. Yaprak D, Kara H, Calisici E, Karagöl BS, Altan M. Birth Defects Res; 2023 Oct 15; 115(17):1674-1679. PubMed ID: 37587715 [Abstract] [Full Text] [Related]
20. Clinical and Genetic Spectrum of Bartter Syndrome Type 3. Seys E, Andrini O, Keck M, Mansour-Hendili L, Courand PY, Simian C, Deschenes G, Kwon T, Bertholet-Thomas A, Bobrie G, Borde JS, Bourdat-Michel G, Decramer S, Cailliez M, Krug P, Cozette P, Delbet JD, Dubourg L, Chaveau D, Fila M, Jourde-Chiche N, Knebelmann B, Lavocat MP, Lemoine S, Djeddi D, Llanas B, Louillet F, Merieau E, Mileva M, Mota-Vieira L, Mousson C, Nobili F, Novo R, Roussey-Kesler G, Vrillon I, Walsh SB, Teulon J, Blanchard A, Vargas-Poussou R. J Am Soc Nephrol; 2017 Aug 15; 28(8):2540-2552. PubMed ID: 28381550 [Abstract] [Full Text] [Related] Page: [Next] [New Search]