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Items: 1 to 20 of 187

1.

Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2.

Simon DB, Karet FE, Hamdan JM, DiPietro A, Sanjad SA, Lifton RP.

Nat Genet. 1996 Jun;13(2):183-8.

PMID:
8640224
2.

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;14(2):152-6.

PMID:
8841184
3.

Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter.

Simon DB, Nelson-Williams C, Bia MJ, Ellison D, Karet FE, Molina AM, Vaara I, Iwata F, Cushner HM, Koolen M, Gainza FJ, Gitleman HJ, Lifton RP.

Nat Genet. 1996 Jan;12(1):24-30.

PMID:
8528245
4.

The molecular basis of inherited hypokalemic alkalosis: Bartter's and Gitelman's syndromes.

Simon DB, Lifton RP.

Am J Physiol. 1996 Nov;271(5 Pt 2):F961-6. Review.

PMID:
8945989
5.

Mutations in Na(K)Cl transporters in Gitelman's and Bartter's syndromes.

Simon DB, Lifton RP.

Curr Opin Cell Biol. 1998 Aug;10(4):450-4. Review.

PMID:
9719864
6.

Miscellaneous non-inflammatory musculoskeletal conditions. Bartter's and Gitelman's diseases.

Favero M, Calò LA, Schiavon F, Punzi L.

Best Pract Res Clin Rheumatol. 2011 Oct;25(5):637-48. doi: 10.1016/j.berh.2011.10.013. Review.

PMID:
22142744
7.

"The molecular basis of inherited hypokalemic alkalosis: Bartter's and Gitelman's syndromes".

Hebert SC, Gullans SR.

Am J Physiol. 1996 Nov;271(5 Pt 2):F957-9. No abstract available.

PMID:
8945988
8.

Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome.

Vargas-Poussou R, Feldmann D, Vollmer M, Konrad M, Kelly L, van den Heuvel LP, Tebourbi L, Brandis M, Karolyi L, Hebert SC, Lemmink HH, Deschênes G, Hildebrandt F, Seyberth HW, Guay-Woodford LM, Knoers NV, Antignac C.

Am J Hum Genet. 1998 Jun;62(6):1332-40.

9.

Identification of a novel R642C mutation in Na/Cl cotransporter with Gitelman's syndrome.

Yahata K, Tanaka I, Kotani M, Mukoyama M, Ogawa Y, Goto M, Nakagawa M, Sugawara A, Tanaka K, Shimatsu A, Nakao K.

Am J Kidney Dis. 1999 Nov;34(5):845-53.

PMID:
10561140
10.

[Bartter's syndrome: new classification, old therapy].

Peco-Antic A, Dudic S, Marsenic O, Zivic G.

Srp Arh Celok Lek. 2001 May-Jun;129(5-6):139-42. Serbian.

PMID:
11797462
11.

[Bartter's syndromes].

Vantyghem MC, Douillard C, Binaut R, Provot F.

Ann Endocrinol (Paris). 1999 Dec;60(6):465-72. Review. French.

PMID:
10617800
12.

Bartter's and Gitelman's syndromes: from gene to clinic.

Naesens M, Steels P, Verberckmoes R, Vanrenterghem Y, Kuypers D.

Nephron Physiol. 2004;96(3):p65-78. Review.

PMID:
15056980
13.

Identification of novel mutations in Na-Cl cotransporter gene in a Korean patient with atypical Gitelman's syndrome.

Yoo TH, Lee SH, Yoon K, Baek H, Chung JH, Lee T, Ihm C, Kim M.

Am J Kidney Dis. 2003 Dec;42(6):E11-6.

PMID:
14655226
14.

Novel mutations in thiazide-sensitive Na-Cl cotransporter gene of patients with Gitelman's syndrome.

Monkawa T, Kurihara I, Kobayashi K, Hayashi M, Saruta T.

J Am Soc Nephrol. 2000 Jan;11(1):65-70.

15.

Gitelman's syndrome is genetically distinct from other forms of Bartter's syndrome.

Károlyi L, Ziegler A, Pollak M, Fischbach M, Grzeschik KH, Koch MC, Seyberth HW.

Pediatr Nephrol. 1996 Oct;10(5):551-4.

PMID:
8897553
16.

A common NKCC2 mutation in Costa Rican Bartter's syndrome patients: evidence for a founder effect.

Kurtz CL, Karolyi L, Seyberth HW, Koch MC, Vargas R, Feldmann D, Vollmer M, Knoers NV, Madrigal G, Guay-Woodford LM.

J Am Soc Nephrol. 1997 Nov;8(11):1706-11.

17.

The molecular genetic approach to "Bartter's syndrome".

Károlyi L, Koch MC, Grzeschik KH, Seyberth HW.

J Mol Med (Berl). 1998 Apr;76(5):317-25. Review.

PMID:
9587066
18.
19.

[Bartter's syndrome].

Daniluk U, Kaczmarski M, Wasilewska J, Matuszewska E, Semeniuk J, Sidor K, Krasnow A.

Pol Merkur Lekarski. 2004 May;16(95):484-9. Review. Polish.

PMID:
15518434
20.

Three cases of Gitelman's syndrome possibly caused by different mutations in the thiazide-sensitive Na-Cl cotransporter.

Takeuchi K, Kato T, Taniyama Y, Tsunoda K, Takahashi N, Ikeda Y, Omata K, Imai Y, Saito T, Ito S, Abe K.

Intern Med. 1997 Aug;36(8):582-5.

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