213 related articles for article (PubMed ID: 28095294)
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
Bone; 2017 Apr; 97():121-125. PubMed ID: 28095294
[TBL] [Abstract][Full Text] [Related]
2. Antenatal Bartter syndrome presenting as hyperparathyroidism with hypercalcemia and hypercalciuria: a case report and review.
Gross I; Siedner-Weintraub Y; Simckes A; Gillis D
J Pediatr Endocrinol Metab; 2015 Jul; 28(7-8):943-6. PubMed ID: 25741940
[TBL] [Abstract][Full Text] [Related]
3. 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
J Clin Endocrinol Metab; 2016 May; 101(5):2196-200. PubMed ID: 26963954
[TBL] [Abstract][Full Text] [Related]
4. Late onset Bartter syndrome: Bartter syndrome type 2 presenting with isolated nephrocalcinosis and high parathyroid hormone levels mimicking primary hyperparathyroidism.
Yıldız G; Torun Bayram M; Çinleti T; Koç A; Soylu A; Kavukçu S
J Pediatr Endocrinol Metab; 2022 Oct; 35(10):1298-1301. PubMed ID: 35952717
[TBL] [Abstract][Full Text] [Related]
5. 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; 54(6):1003-7. PubMed ID: 17998760
[TBL] [Abstract][Full Text] [Related]
6. A novel SLC12A1 mutation in Bedouin kindred with antenatal Bartter syndrome type I.
Halperin D; Dolgin V; Geylis M; Drabkin M; Yogev Y; Wormser O; Schreiber R; Shalev H; Landau D; Birk OS
Ann Hum Genet; 2019 Sep; 83(5):361-366. PubMed ID: 30977917
[TBL] [Abstract][Full Text] [Related]
7. A missense mutation in solute carrier family 12, member 1 (SLC12A1) causes hydrallantois in Japanese Black cattle.
Sasaki S; Hasegawa K; Higashi T; Suzuki Y; Sugano S; Yasuda Y; Sugimoto Y
BMC Genomics; 2016 Sep; 17(1):724. PubMed ID: 27613513
[TBL] [Abstract][Full Text] [Related]
8. 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
[TBL] [Abstract][Full Text] [Related]
9. A novel variant in the SLC12A1 gene in two families with antenatal Bartter syndrome.
Breinbjerg A; Siggaard Rittig C; Gregersen N; Rittig S; Hvarregaard Christensen J
Acta Paediatr; 2017 Jan; 106(1):161-167. PubMed ID: 27748541
[TBL] [Abstract][Full Text] [Related]
10. 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; 54(6):102859. PubMed ID: 37516009
[TBL] [Abstract][Full Text] [Related]
11. Analysis of renal tubular electrolyte transporter genes in seven patients with hypokalemic metabolic alkalosis.
Fukuyama S; Okudaira S; Yamazato S; Yamazato M; Ohta T
Kidney Int; 2003 Sep; 64(3):808-16. PubMed ID: 12911530
[TBL] [Abstract][Full Text] [Related]
12. Antenatal Bartter Syndrome Caused by a Novel Homozygous Mutation in
Acar FA; Işik G; Mutlu M; Kader Ş; Aslan Y; Kalyoncu M
Indian J Nephrol; 2019; 29(5):360-363. PubMed ID: 31571745
[TBL] [Abstract][Full Text] [Related]
13. Straightening out the renal tubule: advances in the molecular basis of the inherited tubulopathies.
Pearce SH
QJM; 1998 Jan; 91(1):5-12. PubMed ID: 9519207
[TBL] [Abstract][Full Text] [Related]
14. Novel SLC12A1 mutations cause Bartter syndrome in two patients with different prognoses.
Yi S; Li M; Yang Q; Zhang X; Chen F; Qin Z; Yi S; Huang L; Wei H; Zhang Q; Luo J
Clin Chim Acta; 2022 Jun; 531():120-125. PubMed ID: 35358470
[TBL] [Abstract][Full Text] [Related]
15. Dent-2 disease with a Bartter-like phenotype caused by the Asp631Glu mutation in the OCRL gene.
Drosataki E; Maragkou S; Dermitzaki K; Stavrakaki I; Lygerou D; Latsoudis H; Pleros C; Petrakis I; Zaganas I; Stylianou K
BMC Nephrol; 2022 May; 23(1):182. PubMed ID: 35549682
[TBL] [Abstract][Full Text] [Related]
16. Furosemide loading test in a case of homozygous solute carrier family 12, member 1 (SLC12A1) mutation (g.62382825G>A, p.Pro372Leu) in Japanese Black cattle.
Hasegawa K; Sasaki S; Sakamoto Y; Takano A; Takayama M; Higashi T; Sugimoto Y; Yasuda Y
Anim Sci J; 2017 Oct; 88(10):1459-1464. PubMed ID: 28402032
[TBL] [Abstract][Full Text] [Related]
17. Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus.
Vergine G; Fabbri E; Pedini A; Tedeschi S; Borsa N
Case Rep Pediatr; 2018; 2018():9175271. PubMed ID: 29527380
[TBL] [Abstract][Full Text] [Related]
18. A novel CASR mutation associated with neonatal severe hyperparathyroidism transmitted as an autosomal recessive disorder.
Diaz-Thomas A; Cannon J; Iyer P; Al-Maawali A; Fazalullah M; Diamond F; Mueller OT; Root AW; Alyaarubi S
J Pediatr Endocrinol Metab; 2014 Sep; 27(9-10):851-6. PubMed ID: 24854525
[TBL] [Abstract][Full Text] [Related]
19. Prenatal hyperechogenic kidneys in three cases of infantile hypercalcemia associated with SLC34A1 mutations.
Hureaux M; Molin A; Jay N; Saliou AH; Spaggiari E; Salomon R; Benachi A; Vargas-Poussou R; Heidet L
Pediatr Nephrol; 2018 Oct; 33(10):1723-1729. PubMed ID: 29959532
[TBL] [Abstract][Full Text] [Related]
20. Eleven novel SLC12A1 variants and an exonic mutation cause exon skipping in Bartter syndrome type I.
Han Y; Zhao X; Wang S; Wang C; Tian D; Lang Y; Bottillo I; Wang X; Shao L
Endocrine; 2019 Jun; 64(3):708-718. PubMed ID: 30790175
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]