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Similar articles for PubMed (Select 22145481)

1.

A novel AVPR2 missense mutation in a Chinese boy with severe inherited nephrogenic diabetes insipidus.

Huang L, Li W, Tang W, Lu G.

J Pediatr Endocrinol Metab. 2011;24(9-10):807-9.

PMID:
22145481
2.

A novel missense mutation in the AVPR2 gene of a Japanese infant with nephrogenic diabetes insipidus.

Takatani T, Matsuo K, Kinoshita K, Takatani R, Minagawa M, Kohno Y.

J Pediatr Endocrinol Metab. 2010 Apr;23(4):415-8.

PMID:
20583549
3.

Identification and characterization of a novel X-linked AVPR2 mutation causing partial nephrogenic diabetes insipidus: a case report and review of the literature.

Neocleous V, Skordis N, Shammas C, Efstathiou E, Mastroyiannopoulos NP, Phylactou LA.

Metabolism. 2012 Jul;61(7):922-30. doi: 10.1016/j.metabol.2012.01.005. Epub 2012 Mar 3. Review.

PMID:
22386940
4.

Novel vasopressin type 2 (AVPR2) gene mutations in Brazilian nephrogenic diabetes insipidus patients.

Boson WL, Della Manna T, Damiani D, Miranda DM, Gadelha MR, Liberman B, Correa H, Romano-Silva MA, Friedman E, Silva FF, Ribeiro PA, De Marco L.

Genet Test. 2006 Fall;10(3):157-62.

PMID:
17020465
5.

Partial nephrogenic diabetes insipidus caused by a novel mutation in the AVPR2 gene.

Faerch M, Christensen JH, Corydon TJ, Kamperis K, de Zegher F, Gregersen N, Robertson GL, Rittig S.

Clin Endocrinol (Oxf). 2008 Mar;68(3):395-403. Epub 2007 Oct 17.

PMID:
17941907
6.

AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance.

Spanakis E, Milord E, Gragnoli C.

J Cell Physiol. 2008 Dec;217(3):605-17. doi: 10.1002/jcp.21552. Review.

PMID:
18726898
7.
8.

Functional characterization of vasopressin receptor 2 mutations causing partial and complete congenital nephrogenic diabetes insipidus in Thai families.

Sahakitrungruang T, Tee MK, Rattanachartnarong N, Shotelersuk V, Suphapeetiporn K, Miller WL.

Horm Res Paediatr. 2010;73(5):349-54. doi: 10.1159/000308167. Epub 2010 Apr 14.

PMID:
20389105
9.

Nephrogenic diabetes insipidus.

Bichet DG.

Adv Chronic Kidney Dis. 2006 Apr;13(2):96-104. Review.

PMID:
16580609
10.

Identification of mutations in the arginine vasopressin receptor 2 gene causing nephrogenic diabetes insipidus in Chinese patients.

Chen CH, Chen WY, Liu HL, Liu TT, Tsou AP, Lin CY, Chao T, Qi Y, Hsiao KJ.

J Hum Genet. 2002;47(2):66-73.

PMID:
11916004
11.

V2R mutations and nephrogenic diabetes insipidus.

Bichet DG.

Prog Mol Biol Transl Sci. 2009;89:15-29. doi: 10.1016/S1877-1173(09)89002-9. Epub 2009 Oct 7. Review.

PMID:
20374732
12.

A case of nephrogenic diabetes insipidus with a novel missense mutation in the AVPR2 gene.

Ashida A, Yamamoto D, Nakakura H, Matsumura H, Uchida S, Sasaki S, Tamai H.

Pediatr Nephrol. 2007 May;22(5):670-3. Epub 2007 Jan 10.

PMID:
17216256
13.

[Identification of mutations in the arginine vasopressin receptor 2 gene in congenital nephrogenic diabetes insipidus patients].

Gu F, Shi Y, Deng J, Jin Z.

Zhonghua Yi Xue Za Zhi. 2002 Oct 25;82(20):1401-5. Chinese.

PMID:
12509923
14.

Hereditary nephrogenic diabetes insipidus in Japanese patients: analysis of 78 families and report of 22 new mutations in AVPR2 and AQP2.

Sasaki S, Chiga M, Kikuchi E, Rai T, Uchida S.

Clin Exp Nephrol. 2013 Jun;17(3):338-44. doi: 10.1007/s10157-012-0726-z. Epub 2012 Nov 14.

PMID:
23150186
15.

A large deletion of the AVPR2 gene causing severe nephrogenic diabetes insipidus in a Turkish family.

Saglar E, Deniz F, Erdem B, Karaduman T, Yönem A, Cagiltay E, Mergen H.

Endocrine. 2014 May;46(1):148-53. doi: 10.1007/s12020-013-0043-7. Epub 2013 Sep 13.

PMID:
24026507
16.

A novel mutation in the AVPR2 gene (222delA) associated with X-linked nephrogenic diabetes insipidus in a boy with growth failure.

Abaci A, Wood K, Demir K, Büyükgebiz A, Böber E, Kopp P.

Endocr Pract. 2010 Mar-Apr;16(2):231-6. doi: 10.4158/EP09165.CR.

PMID:
19703807
17.

Novel mutations underlying nephrogenic diabetes insipidus in Arab families.

Carroll P, Al-Mojalli H, Al-Abbad A, Al-Hassoun I, Al-Hamed M, Al-Amr R, Butt AI, Meyer BF.

Genet Med. 2006 Jul;8(7):443-7.

PMID:
16845277
19.

AVPR2 variants and V2 vasopressin receptor function in nephrogenic diabetes insipidus.

Wildin RS, Cogdell DE, Valadez V.

Kidney Int. 1998 Dec;54(6):1909-22.

20.

Nephrogenic diabetes insipidus due to a novel AVPR2 mutation.

Sakallioglu O, Tascilar ME, Kalman S, Cheong HI, Atay AA.

J Pediatr Endocrinol Metab. 2009 Feb;22(2):187-9.

PMID:
19449677
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