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Journal Abstract Search

286 related items for PubMed ID: 24659592

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  • 24. Clinical exome sequencing uncovers an unsuspected diagnosis of Bartter syndrome type 2 in a child with incidentally detected nephrocalcinosis.
    Saha A, Pande P, Vala K, Kapadia S, Patel H.
    CEN Case Rep; 2022 Nov; 11(4):417-421. PubMed ID: 35195872
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  • 25. Hypocalcemia as the Initial Presentation of Type 2 Bartter Syndrome: A Family Report.
    London S, Levine MA, Li D, Spiegel R, Lebel A, Halevy R, Tenenbaum-Rakover Y.
    J Clin Endocrinol Metab; 2022 Mar 24; 107(4):e1679-e1688. PubMed ID: 34751387
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  • 28. Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity. International Collaborative Study Group for Bartter-like Syndromes.
    Hum Mol Genet; 1997 Jan 24; 6(1):17-26. PubMed ID: 9002665
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  • 29. Six cases with severe insulin resistance (SIR) associated with mutations of insulin receptor: Is a Bartter-like syndrome a feature of congenital SIR?
    Grasso V, Colombo C, Favalli V, Galderisi A, Rabbone I, Gombos S, Bonora E, Massa O, Meschi F, Cerutti F, Iafusco D, Bonfanti R, Monciotti C, Barbetti F.
    Acta Diabetol; 2013 Dec 24; 50(6):951-7. PubMed ID: 23824322
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  • 31. Bartter syndrome: presentation in an extremely premature neonate.
    Flores FX, Ojeda FJ, Calhoun DA.
    J Perinatol; 2013 Aug 24; 33(8):661-2. PubMed ID: 23897314
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  • 33. Clinical Findings and Genetic Analysis of Nine Mexican Families with Bartter Syndrome.
    Hernández NEG, Pérez LIE, Aguilera D, Camargo-Muñiz MD, Espinosa CFC, Jaramillo MCR, Salvador C, González ZL, Hureaux M, Vargas-Poussou R.
    Arch Med Res; 2023 Sep 24; 54(6):102859. PubMed ID: 37516009
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  • 35. DNA analysis of renal electrolyte transporter genes among patients suffering from Bartter and Gitelman syndromes: summary of mutation screening.
    Urbanová M, Reiterová J, Stěkrová J, Lněnička P, Ryšavá R.
    Folia Biol (Praha); 2011 Sep 24; 57(2):65-73. PubMed ID: 21631963
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  • 36. [Bartter's syndrome with hyperuricemia and nephrocalcinosis].
    Zefirova GS, Zakutniaia VN, Bufakhreddin S, Plevako VA, Burmistrova NL.
    Klin Med (Mosk); 2000 Sep 24; 78(11):54-8. PubMed ID: 11232534
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  • 37. Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK.
    Simon DB, Karet FE, Rodriguez-Soriano J, Hamdan JH, DiPietro A, Trachtman H, Sanjad SA, Lifton RP.
    Nat Genet; 1996 Oct 24; 14(2):152-6. PubMed ID: 8841184
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  • 40. Phenotypic variability in Bartter syndrome type I.
    Bettinelli A, Ciarmatori S, Cesareo L, Tedeschi S, Ruffa G, Appiani AC, Rosini A, Grumieri G, Mercuri B, Sacco M, Leozappa G, Binda S, Cecconi M, Navone C, Curcio C, Syren ML, Casari G.
    Pediatr Nephrol; 2000 Sep 24; 14(10-11):940-5. PubMed ID: 10975303
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