PubMed (cited) for id: 601678

Year	Number of Results
1984	1
1985	2
1987	1
1993	1
1996	1
1997	4
2009	1
2012	1
2015	1
2016	1
2017	1
2024	0

1

A novel SLC12A1 gene mutation associated with hyperparathyroidism, hypercalcemia, nephrogenic diabetes insipidus, and nephrocalcinosis in four patients.

Wongsaengsak S, Vidmar AP, Addala A, Kamil ES, Sequeira P, Fass B, Pitukcheewanont P. Wongsaengsak S, et al. Bone. 2017 Apr;97:121-125. doi: 10.1016/j.bone.2017.01.011. Epub 2017 Jan 14. Bone. 2017. PMID: 28095294

2

Association of Mutations in SLC12A1 Encoding the NKCC2 Cotransporter With Neonatal Primary Hyperparathyroidism.

Li D, Tian L, Hou C, Kim CE, Hakonarson H, Levine MA. Li D, et al. J Clin Endocrinol Metab. 2016 May;101(5):2196-200. doi: 10.1210/jc.2016-1211. Epub 2016 Mar 10. J Clin Endocrinol Metab. 2016. PMID: 26963954 Free PMC article.

3

Antenatal Bartter syndrome presenting as hyperparathyroidism with hypercalcemia and hypercalciuria: a case report and review.

Gross I, Siedner-Weintraub Y, Simckes A, Gillis D. Gross I, et al. J Pediatr Endocrinol Metab. 2015 Jul;28(7-8):943-6. doi: 10.1515/jpem-2014-0188. J Pediatr Endocrinol Metab. 2015. PMID: 25741940 Review.

4

Understanding Bartter syndrome and Gitelman syndrome.

Fremont OT, Chan JC. Fremont OT, et al. World J Pediatr. 2012 Feb;8(1):25-30. doi: 10.1007/s12519-012-0333-9. Epub 2012 Jan 27. World J Pediatr. 2012. PMID: 22282380 Review.

5

In vivo and in vitro splicing assay of SLC12A1 in an antenatal salt-losing tubulopathy patient with an intronic mutation.

Nozu K, Iijima K, Kawai K, Nozu Y, Nishida A, Takeshima Y, Fu XJ, Hashimura Y, Kaito H, Nakanishi K, Yoshikawa N, Matsuo M. Nozu K, et al. Hum Genet. 2009 Oct;126(4):533-8. doi: 10.1007/s00439-009-0697-7. Epub 2009 Jun 10. Hum Genet. 2009. PMID: 19513753

6

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. Kurtz CL, et al. J Am Soc Nephrol. 1997 Nov;8(11):1706-11. doi: 10.1681/ASN.V8111706. J Am Soc Nephrol. 1997. PMID: 9355073

7

Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III.

Simon DB, Bindra RS, Mansfield TA, Nelson-Williams C, Mendonca E, Stone R, Schurman S, Nayir A, Alpay H, Bakkaloglu A, Rodriguez-Soriano J, Morales JM, Sanjad SA, Taylor CM, Pilz D, Brem A, Trachtman H, Griswold W, Richard GA, John E, Lifton RP. Simon DB, et al. Nat Genet. 1997 Oct;17(2):171-8. doi: 10.1038/ng1097-171. Nat Genet. 1997. PMID: 9326936

8

Bartter syndrome in Costa Rica: a description of 20 cases.

Madrigal G, Saborio P, Mora F, Rincon G, Guay-Woodford LM. Madrigal G, et al. Pediatr Nephrol. 1997 Jun;11(3):296-301. doi: 10.1007/s004670050280. Pediatr Nephrol. 1997. PMID: 9203176 Clinical Trial.

9

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.

[No authors listed] [No authors listed] Hum Mol Genet. 1997 Jan;6(1):17-26. doi: 10.1093/hmg/6.1.17. Hum Mol Genet. 1997. PMID: 9002665

10

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. Simon DB, et al. Nat Genet. 1996 Jun;13(2):183-8. doi: 10.1038/ng0696-183. Nat Genet. 1996. PMID: 8640224

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