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Results: 1 to 20 of 103

1.

Genetic diagnosis of Liddle's syndrome by mutation analysis of SCNN1B and SCNN1G in a Chinese family.

Wang LP, Gao LG, Zhou XL, Wu HY, Zhang L, Wen D, Li YH, Liu YX, Tian T, Fan XH, Jiang XJ, Zhang HM, Hui RT.

Chin Med J (Engl). 2012 Apr;125(8):1401-4.

PMID:
22613642
[PubMed - indexed for MEDLINE]
Free Article
2.

[Liddle's syndrome caused by a novel mutation of the gamma-subunit of epithelial sodium channel gene SCNN1G in Chinese].

Shi JY, Chen X, Ren Y, Long Y, Tian HM.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Apr;27(2):132-5. doi: 10.3760/cma.j.issn.1003-9406.2010.02.003. Chinese.

PMID:
20376790
[PubMed - indexed for MEDLINE]
3.

A novel mutation in the beta-subunit of the epithelial sodium channel gene (SCNN1B) in a Thai family with Liddle's syndrome.

Sawathiparnich P, Sumboonnanonda A, Weerakulwattana P, Limwongse C.

J Pediatr Endocrinol Metab. 2009 Jan;22(1):85-9.

PMID:
19344079
[PubMed - indexed for MEDLINE]
4.

Liddle's syndrome associated with a point mutation in the extracellular domain of the epithelial sodium channel gamma subunit.

Hiltunen TP, Hannila-Handelberg T, Petäjäniemi N, Kantola I, Tikkanen I, Virtamo J, Gautschi I, Schild L, Kontula K.

J Hypertens. 2002 Dec;20(12):2383-90.

PMID:
12473862
[PubMed - indexed for MEDLINE]
5.

Genetic analysis of the epithelial sodium channel in Liddle's syndrome.

Uehara Y, Sasaguri M, Kinoshita A, Tsuji E, Kiyose H, Taniguchi H, Noda K, Ideishi M, Inoue J, Tomita K, Arakawa K.

J Hypertens. 1998 Aug;16(8):1131-5.

PMID:
9794716
[PubMed - indexed for MEDLINE]
6.

Mutation analysis of SCNN1B in a family with Liddle's syndrome.

Wang W, Zhou W, Jiang L, Cui B, Ye L, Su T, Wang J, Li X, Ning G.

Endocrine. 2006 Jun;29(3):385-90.

PMID:
16943574
[PubMed - indexed for MEDLINE]
7.

A family with Liddle syndrome caused by a novel missense mutation in the PY motif of the beta-subunit of the epithelial sodium channel.

Gao L, Wang L, Liu Y, Zhou X, Hui R, Hu A.

J Pediatr. 2013 Jan;162(1):166-70. doi: 10.1016/j.jpeds.2012.06.017. Epub 2012 Jul 17.

PMID:
22809657
[PubMed - indexed for MEDLINE]
8.

Diagnosis of Liddle syndrome by genetic analysis of beta and gamma subunits of epithelial sodium channel--a report of five affected family members.

Gao PJ, Zhang KX, Zhu DL, He X, Han ZY, Zhan YM, Yang LW.

J Hypertens. 2001 May;19(5):885-9.

PMID:
11393671
[PubMed - indexed for MEDLINE]
9.

Liddle's syndrome caused by a novel missense mutation (P617L) of the epithelial sodium channel beta subunit.

Rossi E, Farnetti E, Debonneville A, Nicoli D, Grasselli C, Regolisti G, Negro A, Perazzoli F, Casali B, Mantero F, Staub O.

J Hypertens. 2008 May;26(5):921-7. doi: 10.1097/HJH.0b013e3282f85dfe.

PMID:
18398334
[PubMed - indexed for MEDLINE]
10.

A clinical phenotype mimicking essential hypertension in a newly discovered family with Liddle's syndrome.

Rossi E, Farnetti E, Nicoli D, Sazzini M, Perazzoli F, Regolisti G, Grasselli C, Santi R, Negro A, Mazzeo V, Mantero F, Luiselli D, Casali B.

Am J Hypertens. 2011 Aug;24(8):930-5. doi: 10.1038/ajh.2011.76. Epub 2011 Apr 28.

PMID:
21525970
[PubMed - indexed for MEDLINE]
11.

Genotype-phenotype analysis of a newly discovered family with Liddle's syndrome.

Jeunemaitre X, Bassilana F, Persu A, Dumont C, Champigny G, Lazdunski M, Corvol P, Barbry P.

J Hypertens. 1997 Oct;15(10):1091-100.

PMID:
9350583
[PubMed - indexed for MEDLINE]
12.

Mutations and variants of the epithelial sodium channel gene in Liddle's syndrome and primary hypertension.

Melander O, Orho M, Fagerudd J, Bengtsson K, Groop PH, Mattiasson I, Groop L, Hulthén UL.

Hypertension. 1998 May;31(5):1118-24.

PMID:
9576123
[PubMed - indexed for MEDLINE]
Free Article
13.

A novel epithelial sodium channel gamma-subunit de novo frameshift mutation leads to Liddle syndrome.

Wang Y, Zheng Y, Chen J, Wu H, Zheng D, Hui R.

Clin Endocrinol (Oxf). 2007 Nov;67(5):801-4. Epub 2007 Jul 18.

PMID:
17634077
[PubMed - indexed for MEDLINE]
14.

Use of constant denaturant capillary electrophoresis of pooled blood samples to identify single-nucleotide polymorphisms in the genes (Scnn1a and Scnn1b) encoding the alpha and beta subunits of the epithelial sodium channel.

Xue MZ, Bonny O, Morgenthaler S, Bochud M, Mooser V, Thilly WG, Schild L, Leong-Morgenthaler PM.

Clin Chem. 2002 May;48(5):718-28.

PMID:
11978598
[PubMed - indexed for MEDLINE]
Free Article
15.

Six missense mutations of the epithelial sodium channel beta and gamma subunits in Japanese hypertensives.

Kamide K, Tanaka C, Takiuchi S, Miwa Y, Yoshii M, Horio T, Kawano Y, Miyata T.

Hypertens Res. 2004 May;27(5):333-8.

PMID:
15198480
[PubMed - indexed for MEDLINE]
Free Article
16.

[A study of mutation(s) of the epithelial sodium channel gene in a Liddle's syndrome family].

Ma X, Tian Y, Gao Y, Guo X.

Zhonghua Nei Ke Za Zhi. 2001 Jun;40(6):390-3. Chinese.

PMID:
11798604
[PubMed - indexed for MEDLINE]
17.

Identification of a single cytosine base insertion mutation at Arg-597 of the beta subunit of the human epithelial sodium channel in a family with Liddle's disease.

Inoue T, Okauchi Y, Matsuzaki Y, Kuwajima K, Kondo H, Horiuchi N, Nakao K, Iwata M, Yokogoshi Y, Shintani Y, Bando H, Saito S.

Eur J Endocrinol. 1998 Jun;138(6):691-7. Review.

PMID:
9678538
[PubMed - indexed for MEDLINE]
Free Article
18.

Conservation of pH sensitivity in the epithelial sodium channel (ENaC) with Liddle's syndrome mutation.

Konstas AA, Mavrelos D, Korbmacher C.

Pflugers Arch. 2000 Dec;441(2-3):341-50.

PMID:
11211122
[PubMed - indexed for MEDLINE]
19.

A family with Liddle's syndrome caused by a new missense mutation in the beta subunit of the epithelial sodium channel.

Inoue J, Iwaoka T, Tokunaga H, Takamune K, Naomi S, Araki M, Takahama K, Yamaguchi K, Tomita K.

J Clin Endocrinol Metab. 1998 Jun;83(6):2210-3.

PMID:
9626162
[PubMed - indexed for MEDLINE]
20.

A family with liddle's syndrome caused by a mutation in the beta subunit of the epithelial sodium channel.

Kyuma M, Ura N, Torii T, Takeuchi H, Takizawa H, Kitamura K, Tomita K, Sasaki S, Shimamoto K.

Clin Exp Hypertens. 2001 Aug;23(6):471-8.

PMID:
11478429
[PubMed - indexed for MEDLINE]

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