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Items: 1 to 20 of 144

1.

Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study.

García Castaño A, Pérez de Nanclares G, Madariaga L, Aguirre M, Chocron S, Madrid A, Lafita Tejedor FJ, Gil Campos M, Sánchez Del Pozo J, Ruiz Cano R, Espino M, Gomez Vida JM, Santos F, García Nieto VM, Loza R, Rodríguez LM, Hidalgo Barquero E, Printza N, Camacho JA, Castaño L, Ariceta G; RenalTube Group..

Eur J Pediatr. 2015 Oct;174(10):1373-85. doi: 10.1007/s00431-015-2534-4.

PMID:
25902753
2.

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.

PMID:
23150186
3.

A novel AVPR2 splice site mutation leads to partial X-linked nephrogenic diabetes insipidus in two brothers.

Schernthaner-Reiter MH, Adams D, Trivellin G, Ramnitz MS, Raygada M, Golas G, Faucz FR, Nilsson O, Nella AA, Dileepan K, Lodish M, Lee P, Tifft C, Markello T, Gahl W, Stratakis CA.

Eur J Pediatr. 2016 May;175(5):727-33. doi: 10.1007/s00431-015-2684-4.

PMID:
26795631
4.

Novel AQP2 mutation causing congenital nephrogenic diabetes insipidus: challenges in management during infancy.

Rugpolmuang R, Deeb A, Hassan Y, Deekajorndech T, Shotelersuk V, Sahakitrungruang T.

J Pediatr Endocrinol Metab. 2014 Jan;27(1-2):193-7. doi: 10.1515/jpem-2013-0097.

PMID:
23950570
5.

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
6.

Nephrogenic diabetes insipidus.

Bichet DG.

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

PMID:
16580609
7.

Identification of two novel aquaporin-2 mutations in a Thai girl with congenital nephrogenic diabetes insipidus.

Sahakitrungruang T, Wacharasindhu S, Sinthuwiwat T, Supornsilchai V, Suphapeetiporn K, Shotelersuk V.

Endocrine. 2008 Apr;33(2):210-4. doi: 10.1007/s12020-008-9074-x.

PMID:
18473191
8.

Physiopathology and diagnosis of nephrogenic diabetes insipidus.

Devuyst O.

Ann Endocrinol (Paris). 2012 Apr;73(2):128-9. doi: 10.1016/j.ando.2012.03.032. Review.

PMID:
22503803
9.

Genetic forms of nephrogenic diabetes insipidus (NDI): Vasopressin receptor defect (X-linked) and aquaporin defect (autosomal recessive and dominant).

Bichet DG, Bockenhauer D.

Best Pract Res Clin Endocrinol Metab. 2016 Mar;30(2):263-76. doi: 10.1016/j.beem.2016.02.010. Review.

PMID:
27156763
10.

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.

PMID:
24026507
11.

Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes insipidus.

Vargas-Poussou R, Forestier L, Dautzenberg MD, Niaudet P, Déchaux M, Antignac C.

J Am Soc Nephrol. 1997 Dec;8(12):1855-62.

12.

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. Review.

PMID:
20374732
13.

Characterization of D150E and G196D aquaporin-2 mutations responsible for nephrogenic diabetes insipidus: importance of a mild phenotype.

Guyon C, Lussier Y, Bissonnette P, Leduc-Nadeau A, Lonergan M, Arthus MF, Perez RB, Tiulpakov A, Lapointe JY, Bichet DG.

Am J Physiol Renal Physiol. 2009 Aug;297(2):F489-98. doi: 10.1152/ajprenal.90589.2008.

14.

Clinical phenotype of nephrogenic diabetes insipidus in females heterozygous for a vasopressin type 2 receptor mutation.

van Lieburg AF, Verdijk MA, Schoute F, Ligtenberg MJ, van Oost BA, Waldhauser F, Dobner M, Monnens LA, Knoers NV.

Hum Genet. 1995 Jul;96(1):70-8. Review.

PMID:
7607658
15.

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
16.

Cell-biologic and functional analyses of five new Aquaporin-2 missense mutations that cause recessive nephrogenic diabetes insipidus.

Marr N, Bichet DG, Hoefs S, Savelkoul PJ, Konings IB, De Mattia F, Graat MP, Arthus MF, Lonergan M, Fujiwara TM, Knoers NV, Landau D, Balfe WJ, Oksche A, Rosenthal W, Müller D, Van Os CH, Deen PM.

J Am Soc Nephrol. 2002 Sep;13(9):2267-77.

17.

Pathogenesis and treatment of autosomal-dominant nephrogenic diabetes insipidus caused by an aquaporin 2 mutation.

Sohara E, Rai T, Yang SS, Uchida K, Nitta K, Horita S, Ohno M, Harada A, Sasaki S, Uchida S.

Proc Natl Acad Sci U S A. 2006 Sep 19;103(38):14217-22.

18.

[Analysis of AVPR2 gene mutation in a pedigree affected with congenital nephrogenic diabetes insipidus].

Dai Z, Ruan L, Jin J, Qian Y, Wang L, Shi Z, Wu C.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Oct;33(5):666-9. doi: 10.3760/cma.j.issn.1003-9406.2016.05.019. Chinese.

PMID:
27577218
19.

Two novel mutations in the aquaporin 2 gene in a girl with congenital nephrogenic diabetes insipidus.

Cheong HI, Cho SJ, Zheng SH, Cho HY, Ha IS, Choi Y.

J Korean Med Sci. 2005 Dec;20(6):1076-8.

20.

Functional characterization of the molecular defects causing nephrogenic diabetes insipidus in eight families.

Pasel K, Schulz A, Timmermann K, Linnemann K, Hoeltzenbein M, Jääskeläinen J, Grüters A, Filler G, Schöneberg T.

J Clin Endocrinol Metab. 2000 Apr;85(4):1703-10.

PMID:
10770218
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