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Results: 1 to 20 of 121

1.

Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness.

Nozu K, Inagaki T, Fu XJ, Nozu Y, Kaito H, Kanda K, Sekine T, Igarashi T, Nakanishi K, Yoshikawa N, Iijima K, Matsuo M.

J Med Genet. 2008 Mar;45(3):182-6. doi: 10.1136/jmg.2007.052944.

PMID:
18310267
[PubMed - indexed for MEDLINE]
2.

A case of antenatal Bartter syndrome with sensorineural deafness.

Lee HS, Cheong HI, Ki CS.

J Pediatr Endocrinol Metab. 2010 Oct;23(10):1077-81.

PMID:
21158220
[PubMed - indexed for MEDLINE]
3.

Mutation G47R in the BSND gene causes Bartter syndrome with deafness in two Spanish families.

García-Nieto V, Flores C, Luis-Yanes MI, Gallego E, Villar J, Claverie-Martín F.

Pediatr Nephrol. 2006 May;21(5):643-8. Epub 2006 Mar 29.

PMID:
16572343
[PubMed - indexed for MEDLINE]
4.

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. doi: 10.1093/ndt/gfn689. Epub 2008 Dec 18.

PMID:
19096086
[PubMed - indexed for MEDLINE]
Free Article
5.

Genetic basis of Bartter syndrome in Korea.

Lee BH, Cho HY, Lee H, Han KH, Kang HG, Ha IS, Lee JH, Park YS, Shin JI, Lee DY, Kim SY, Choi Y, Cheong HI.

Nephrol Dial Transplant. 2012 Apr;27(4):1516-21. doi: 10.1093/ndt/gfr475. Epub 2011 Aug 23.

PMID:
21865213
[PubMed - indexed for MEDLINE]
Free Article
6.

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.

PMID:
10906158
[PubMed - indexed for MEDLINE]
Free Article
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.

Nat Genet. 1997 Oct;17(2):171-8.

PMID:
9326936
[PubMed - indexed for MEDLINE]
8.

Atypical Bartter syndrome with sensorineural deafness with G47R mutation of the beta-subunit for ClC-Ka and ClC-Kb chloride channels, barttin.

Miyamura N, Matsumoto K, Taguchi T, Tokunaga H, Nishikawa T, Nishida K, Toyonaga T, Sakakida M, Araki E.

J Clin Endocrinol Metab. 2003 Feb;88(2):781-6.

PMID:
12574213
[PubMed - indexed for MEDLINE]
9.

Molecular analysis of patients with type III Bartter syndrome: picking up large heterozygous deletions with semiquantitative PCR.

Nozu K, Fu XJ, Nakanishi K, Yoshikawa N, Kaito H, Kanda K, Krol RP, Miyashita R, Kamitsuji H, Kanda S, Hayashi Y, Satomura K, Shimizu N, Iijima K, Matsuo M.

Pediatr Res. 2007 Sep;62(3):364-9.

PMID:
17622951
[PubMed - indexed for MEDLINE]
10.

A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes.

Zelikovic I, Szargel R, Hawash A, Labay V, Hatib I, Cohen N, Nakhoul F.

Kidney Int. 2003 Jan;63(1):24-32.

PMID:
12472765
[PubMed - indexed for MEDLINE]
11.

Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.

Birkenhäger R, Otto E, Schürmann MJ, Vollmer M, Ruf EM, Maier-Lutz I, Beekmann F, Fekete A, Omran H, Feldmann D, Milford DV, Jeck N, Konrad M, Landau D, Knoers NV, Antignac C, Sudbrak R, Kispert A, Hildebrandt F.

Nat Genet. 2001 Nov;29(3):310-4.

PMID:
11687798
[PubMed - indexed for MEDLINE]
12.

A founder mutation in the CLCNKB gene causes Bartter syndrome type III in Spain.

Rodríguez-Soriano J, Vallo A, Pérez de Nanclares G, Bilbao JR, Castaño L.

Pediatr Nephrol. 2005 Jul;20(7):891-6. Epub 2005 May 5.

PMID:
15875219
[PubMed - indexed for MEDLINE]
13.

Severe manifestation of Bartter syndrome Type IV caused by a novel insertion mutation in the BSND gene.

de Pablos AL, García-Nieto V, López-Menchero JC, Ramos-Trujillo E, González-Acosta H, Claverie-Martín F.

Clin Nephrol. 2014 May;81(5):363-8. doi: 10.5414/CN107687.

PMID:
23110775
[PubMed - indexed for MEDLINE]
14.

Disease-causing dysfunctions of barttin in Bartter syndrome type IV.

Janssen AG, Scholl U, Domeyer C, Nothmann D, Leinenweber A, Fahlke C.

J Am Soc Nephrol. 2009 Jan;20(1):145-53. doi: 10.1681/ASN.2008010102. Epub 2008 Sep 5.

PMID:
18776122
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Bartter syndrome in two sisters with a novel mutation of the CLCNKB gene, one with deafness.

Robitaille P, Merouani A, He N, Pei Y.

Eur J Pediatr. 2011 Sep;170(9):1209-11. doi: 10.1007/s00431-011-1464-z. Epub 2011 Apr 9.

PMID:
21479528
[PubMed - indexed for MEDLINE]
16.

Translational read-through of a nonsense mutation causing Bartter syndrome.

Cho HY, Lee BH, Cheong HI.

J Korean Med Sci. 2013 Jun;28(6):821-6. doi: 10.3346/jkms.2013.28.6.821. Epub 2013 Jun 3.

PMID:
23772144
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Renal dysfunction and barttin expression in Bartter syndrome Type IV associated with a G47R mutation in BSND in a family.

Park CW, Lim JH, Youn DY, Chung S, Lim MH, Kim YK, Chang YS, Lee JH.

Clin Nephrol. 2011 Feb;75 Suppl 1:69-74.

PMID:
21269598
[PubMed - indexed for MEDLINE]
18.

A compound heterozygous mutation in the BSND gene detected in Bartter syndrome type IV.

Kitanaka S, Sato U, Maruyama K, Igarashi T.

Pediatr Nephrol. 2006 Feb;21(2):190-3. Epub 2005 Dec 3.

PMID:
16328537
[PubMed - indexed for MEDLINE]
19.

Identification and functional analysis of novel mutations of the CLCNKB gene in Chinese patients with classic Bartter syndrome.

Yu Y, Xu C, Pan X, Ren H, Wang W, Meng X, Huang F, Chen N.

Clin Genet. 2010 Feb;77(2):155-62. doi: 10.1111/j.1399-0004.2009.01288.x. Epub 2009 Oct 6.

PMID:
19807735
[PubMed - indexed for MEDLINE]
20.

Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome.

Riazuddin S, Anwar S, Fischer M, Ahmed ZM, Khan SY, Janssen AG, Zafar AU, Scholl U, Husnain T, Belyantseva IA, Friedman PL, Riazuddin S, Friedman TB, Fahlke C.

Am J Hum Genet. 2009 Aug;85(2):273-80. doi: 10.1016/j.ajhg.2009.07.003. Epub 2009 Jul 30.

PMID:
19646679
[PubMed - indexed for MEDLINE]
Free PMC Article

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