Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 96

1.

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
2.

A novel contiguous gene deletion of AVPR2 and ARHGAP4 genes in male dizygotic twins with nephrogenic diabetes insipidus and intellectual disability.

Huang L, Poke G, Gecz J, Gibson K.

Am J Med Genet A. 2012 Oct;158A(10):2511-8. doi: 10.1002/ajmg.a.35591. Epub 2012 Sep 10.

PMID:
22965914
3.

Two novel types of contiguous gene deletion of the AVPR2 and ARHGAP4 genes in unrelated Japanese kindreds with nephrogenic diabetes insipidus.

Demura M, Takeda Y, Yoneda T, Furukawa K, Usukura M, Itoh Y, Mabuchi H.

Hum Mutat. 2002 Jan;19(1):23-9.

PMID:
11754100
4.

Immunological profile in a family with nephrogenic diabetes insipidus with a novel 11 kb deletion in AVPR2 and ARHGAP4 genes.

Fujimoto M, Imai K, Hirata K, Kashiwagi R, Morinishi Y, Kitazawa K, Sasaki S, Arinami T, Nonoyama S, Noguchi E.

BMC Med Genet. 2008 May 20;9:42. doi: 10.1186/1471-2350-9-42.

5.
6.

Severe combined immunodeficiency associated with nephrogenic diabetes insipidus and a deletion in the Xq28 region.

Broides A, Ault BH, Arthus MF, Bichet DG, Conley ME.

Clin Immunol. 2006 Aug;120(2):147-55. Epub 2006 Jun 15.

PMID:
16781893
7.

Nephrogenic diabetes insipidus in a patient with L1 syndrome: a new report of a contiguous gene deletion syndrome including L1CAM and AVPR2.

Knops NB, Bos KK, Kerstjens M, van Dael K, Vos YJ.

Am J Med Genet A. 2008 Jul 15;146A(14):1853-8. doi: 10.1002/ajmg.a.32386.

PMID:
18553546
8.

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
9.

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
10.

[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
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.

Novel large deletion in AVPR2 gene causing copy number variation in a patient with X-linked nephrogenic diabetes insipidus.

Cho SY, Law CY, Ng KL, Lam CW.

Clin Chim Acta. 2016 Apr 1;455:84-6. doi: 10.1016/j.cca.2016.01.032. Epub 2016 Jan 29.

PMID:
26828532
13.

Compound deletion of the rhoGAP C1 and V2 vasopressin receptor genes in a patient with nephrogenic diabetes insipidus.

Schöneberg T, Pasel K, von Baehr V, Schulz A, Volk HD, Gudermann T, Filler G.

Hum Mutat. 1999;14(2):163-74.

PMID:
10425039
14.

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
15.

Functional characterization of novel loss-of-function mutations in the vasopressin type 2 receptor gene causing nephrogenic diabetes insipidus.

Böselt I, Tramma D, Kalamitsou S, Niemeyer T, Nykänen P, Gräf KJ, Krude H, Marenzi KS, Di Candia S, Schöneberg T, Schulz A.

Nephrol Dial Transplant. 2012 Apr;27(4):1521-8. doi: 10.1093/ndt/gfr487. Epub 2011 Sep 13.

PMID:
21917732
16.

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
17.

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
18.

Six novel mutations in the vasopressin V2 receptor gene causing nephrogenic diabetes insipidus.

Cheong HI, Park HW, Ha IS, Moon HN, Choi Y, Ko KW, Jun JK.

Nephron. 1997;75(4):431-7.

PMID:
9127330
19.

Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus.

Wildin RS, Antush MJ, Bennett RL, Schoof JM, Scott CR.

Am J Hum Genet. 1994 Aug;55(2):266-77.

20.

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

Supplemental Content

Support Center