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Items: 17

1.

Contiguous gene deletion involving L1CAM and AVPR2 causes X-linked hydrocephalus with nephrogenic diabetes insipidus.

Tegay DH, Lane AH, Roohi J, Hatchwell E.

Am J Med Genet A. 2007 Mar 15;143A(6):594-8.

PMID:
17318848
2.

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
3.

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
4.

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
5.

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
6.

Two new large deletions of the AVPR2 gene causing nephrogenic diabetes insipidus and a review of previously published deletions.

Anesi L, de Gemmis P, Galla D, Hladnik U.

Nephrol Dial Transplant. 2012 Oct;27(10):3705-12. doi: 10.1093/ndt/gfs359. Epub 2012 Aug 9. Review.

PMID:
22879391
7.

Nephrogenic diabetes insipidus.

Bichet DG.

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

PMID:
16580609
8.

[Hereditary nephrogenic diabetes insipidus].

Morin D, Ala Y, Dumas R.

Arch Pediatr. 1995 Jun;2(6):560-7. Review. French.

PMID:
7640759
9.

Nephrogenic diabetes insipidus.

Morello JP, Bichet DG.

Annu Rev Physiol. 2001;63:607-30. Review.

PMID:
11181969
10.

Vasopressin receptor mutations causing nephrogenic diabetes insipidus.

Bichet DG, Turner M, Morin D.

Proc Assoc Am Physicians. 1998 Sep-Oct;110(5):387-94. Review.

PMID:
9756088
11.

Nephrogenic diabetes insipidus.

Bichet DG.

Am J Med. 1998 Nov;105(5):431-42. Review.

PMID:
9831428
12.

Molecular biology of hereditary diabetes insipidus.

Fujiwara TM, Bichet DG.

J Am Soc Nephrol. 2005 Oct;16(10):2836-46. Epub 2005 Aug 10. Review.

13.

[Nephrogenic diabetes insipidus].

Ishikawa S.

Nihon Rinsho. 1996 Mar;54(3):819-24. Review. Japanese.

PMID:
8904243
14.

[Pathological aspects of water transport in the collecting ducts].

Bichet DG.

Nephrologie. 1996;17(7):417-22. Review. French.

PMID:
9019668
15.

Mutational analyses of AVPR2 gene in three Japanese families with X-linked nephrogenic diabetes insipidus: two recurrent mutations, R137H and deltaV278, caused by the hypermutability at CpG dinucleotides.

Shoji Y, Takahashi T, Suzuki Y, Suzuki T, Komatsu K, Hirono H, Shoji Y, Yokoyama T, Kito H, Takada G.

Hum Mutat. 1998;Suppl 1:S278-83. Review. No abstract available.

PMID:
9452109
16.

Cell biological aspects of the vasopressin type-2 receptor and aquaporin 2 water channel in nephrogenic diabetes insipidus.

Robben JH, Knoers NV, Deen PM.

Am J Physiol Renal Physiol. 2006 Aug;291(2):F257-70. Review.

17.

Hirschsprung's disease, acrocallosal syndrome, and congenital hydrocephalus: report of 2 patients and literature review.

Nakakimura S, Sasaki F, Okada T, Arisue A, Cho K, Yoshino M, Kanemura Y, Yamasaki M, Todo S.

J Pediatr Surg. 2008 May;43(5):E13-7. doi: 10.1016/j.jpedsurg.2007.12.069. Review.

PMID:
18485929

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