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Items: 1 to 20 of 101

1.

Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome.

Legrand A, Treard C, Roncelin I, Dreux S, Bertholet-Thomas A, Broux F, Bruno D, Decramer S, Deschenes G, Djeddi D, Guigonis V, Jay N, Khalifeh T, Llanas B, Morin D, Morin G, Nobili F, Pietrement C, Ryckewaert A, Salomon R, Vrillon I, Blanchard A, Vargas-Poussou R.

Clin J Am Soc Nephrol. 2018 Feb 7;13(2):242-250. doi: 10.2215/CJN.05670517. Epub 2017 Nov 16.

2.

Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations.

Laghmani K, Beck BB, Yang SS, Seaayfan E, Wenzel A, Reusch B, Vitzthum H, Priem D, Demaretz S, Bergmann K, Duin LK, Göbel H, Mache C, Thiele H, Bartram MP, Dombret C, Altmüller J, Nürnberg P, Benzing T, Levtchenko E, Seyberth HW, Klaus G, Yigit G, Lin SH, Timmer A, de Koning TJ, Scherjon SA, Schlingmann KP, Bertrand MJ, Rinschen MM, de Backer O, Konrad M, Kömhoff M.

N Engl J Med. 2016 May 12;374(19):1853-63. doi: 10.1056/NEJMoa1507629. Epub 2016 Apr 27.

3.

MAGED2: a novel form of antenatal Bartter's syndrome.

Kömhoff M, Laghmani K.

Curr Opin Nephrol Hypertens. 2018 Jul;27(4):323-328. doi: 10.1097/MNH.0000000000000422. Review.

PMID:
29677005
4.

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. doi: 10.1186/s13023-018-0981-5.

5.

[Genetic analysis of a pedigree affected with Bartter's syndrome].

Yang K, Huo X, Zhang Y, Zhang M, Gao Y, Wu D, Lou G, Qi N, Zhang B, Wang D.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Jul 10;36(7):701-703. doi: 10.3760/cma.j.issn.1003-9406.2019.07.011. Chinese.

PMID:
31302915
6.

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;28(8):2540-2552. doi: 10.1681/ASN.2016101057. Epub 2017 Apr 5.

7.

Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome.

Konrad M, Vollmer M, Lemmink HH, van den Heuvel LP, Jeck N, Vargas-Poussou R, Lakings A, Ruf R, Deschênes G, Antignac C, Guay-Woodford L, Knoers NV, Seyberth HW, Feldmann D, Hildebrandt F.

J Am Soc Nephrol. 2000 Aug;11(8):1449-59.

8.

A step towards precision medicine in management of severe transient polyhydramnios: MAGED2 variant.

Arthuis CJ, Nizon M, Kömhoff M, Beck BB, Riehmer V, Bihouée T, Bruel A, Benbrik N, Winer N, Isidor B.

J Obstet Gynaecol. 2019 Apr;39(3):395-397. doi: 10.1080/01443615.2018.1454415. Epub 2018 Jun 12. No abstract available.

PMID:
29893154
9.

Renal physiology: MAGED2 mutations in transient antenatal Bartter syndrome.

Allison SJ.

Nat Rev Nephrol. 2016 Jul;12(7):377. doi: 10.1038/nrneph.2016.72. Epub 2016 May 16. No abstract available.

PMID:
27181088
10.

Transient antenatal Bartter's Syndrome and X-linked polyhydramnios: insights from the genetics of a rare condition.

Quigley R, Saland JM.

Kidney Int. 2016 Oct;90(4):721-3. doi: 10.1016/j.kint.2016.07.031.

PMID:
27633862
11.

Bartter syndrome type III and congenital anomalies of the kidney and urinary tract: an antenatal presentation.

Westland R, Hack WW, van der Horst HJ, Uittenbogaard LB, van Hagen JM, van der Valk P, Kamsteeg EJ, van den Heuvel LP, van Wijk JA.

Clin Nephrol. 2012 Dec;78(6):492-6.

PMID:
23164417
12.

Genetics of type III Bartter syndrome in Spain, proposed diagnostic algorithm.

García Castaño A, Pérez de Nanclares G, Madariaga L, Aguirre M, Madrid A, Nadal I, Navarro M, Lucas E, Fijo J, Espino M, Espitaletta Z, Castaño L, Ariceta G; RenalTube Group.

PLoS One. 2013 Sep 18;8(9):e74673. doi: 10.1371/journal.pone.0074673. eCollection 2013.

13.

MAGE-D2 and the Regulation of Renal Salt Transporters.

Knoers NV, Bindels RJ.

N Engl J Med. 2016 May 12;374(19):1888-90. doi: 10.1056/NEJMe1603856. Epub 2016 Apr 27. No abstract available.

PMID:
27168439
15.

Pathophysiology of antenatal Bartter's syndrome.

Kömhoff M, Laghmani K.

Curr Opin Nephrol Hypertens. 2017 Sep;26(5):419-425. doi: 10.1097/MNH.0000000000000346. Review.

PMID:
28598867
16.

Future considerations based on the information from Barrter's and Gitelman's syndromes.

Alfandary H, Landau D.

Curr Opin Nephrol Hypertens. 2017 Jan;26(1):9-13. Review.

PMID:
27798456
18.

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. doi: 10.1111/apa.13635.

PMID:
27748541
19.

Prenatal diagnosis of Bartter syndrome: amniotic fluid aldosterone.

Rachid M, Dreux S, Pean de Ponfilly G, Vargas-Poussou R, Czerkiewicz I, Chevenne D, Oury JF, Deschênes G, Muller F.

Ann Biol Clin (Paris). 2017 Apr 1;75(2):204-208. doi: 10.1684/abc.2017.1229.

PMID:
28377333
20.

Expanding the spectrum of genetic mutations in antenatal Bartter syndrome type II.

Fretzayas A, Gole E, Attilakos A, Daskalaki A, Nicolaidou P, Papadopoulou A.

Pediatr Int. 2013 Jun;55(3):371-3. doi: 10.1111/j.1442-200X.2012.03716.x.

PMID:
23782368

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