167 related articles for article (PubMed ID: 36337022)
21. 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. PubMed ID: 23150186
[TBL] [Abstract][Full Text] [Related]
22. Familial forms of diabetes insipidus: clinical and molecular characteristics.
Babey M; Kopp P; Robertson GL
Nat Rev Endocrinol; 2011 Jul; 7(12):701-14. PubMed ID: 21727914
[TBL] [Abstract][Full Text] [Related]
23. 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; 16(2):231-6. PubMed ID: 19703807
[TBL] [Abstract][Full Text] [Related]
24. Nephrogenic diabetes insipidus.
Morello JP; Bichet DG
Annu Rev Physiol; 2001; 63():607-30. PubMed ID: 11181969
[TBL] [Abstract][Full Text] [Related]
25. V2R mutations and nephrogenic diabetes insipidus.
Bichet DG
Prog Mol Biol Transl Sci; 2009; 89():15-29. PubMed ID: 20374732
[TBL] [Abstract][Full Text] [Related]
26. An unusual case of hereditary nephrogenic diabetes insipidus (HNDI) affecting mother and daughter.
Giri D; Hart R; Jones C; Ellis I; Ramakrishnan R
J Pediatr Endocrinol Metab; 2016 Jan; 29(1):93-6. PubMed ID: 26244674
[TBL] [Abstract][Full Text] [Related]
27. A novel mutation affecting the arginine-137 residue of AVPR2 in dizygous twins leads to nephrogenic diabetes insipidus and attenuated urine exosome aquaporin-2.
Hinrichs GR; Hansen LH; Nielsen MR; Fagerberg C; Dieperink H; Rittig S; Jensen BL
Physiol Rep; 2016 Apr; 4(8):. PubMed ID: 27117808
[TBL] [Abstract][Full Text] [Related]
28. [Clinical characteristics and molecular genetics of seven neonates with congenital nephrogenic diabetes insipidus].
Dong X; Dong H; Kang W; Xiong H; Xu B; Lin F; Zheng X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Dec; 38(12):1185-1189. PubMed ID: 34839503
[TBL] [Abstract][Full Text] [Related]
29. [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. PubMed ID: 27577218
[TBL] [Abstract][Full Text] [Related]
30. 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. PubMed ID: 24026507
[TBL] [Abstract][Full Text] [Related]
31. Severe congenital nephrogenic diabetes insipidus in a compound heterozygote with a new large deletion of the AQP2 gene. A case report.
Peces R; Mena R; Peces C; Santos-Simarro F; Fernández L; Afonso S; Lapunzina P; Selgas R; Nevado J
Mol Genet Genomic Med; 2019 Apr; 7(4):e00568. PubMed ID: 30784238
[TBL] [Abstract][Full Text] [Related]
32. [Nephrogenic diabetes insipidus].
Bichet DG
Nephrol Ther; 2006 Nov; 2(6):387-404. PubMed ID: 17081961
[TBL] [Abstract][Full Text] [Related]
33. Novel and recurrent variants in AVPR2 in 19 families with X-linked congenital nephrogenic diabetes insipidus.
Joshi S; Kvistgaard H; Kamperis K; Færch M; Hagstrøm S; Gregersen N; Rittig S; Christensen JH
Eur J Pediatr; 2018 Sep; 177(9):1399-1405. PubMed ID: 29594432
[TBL] [Abstract][Full Text] [Related]
34. A novel AVPR2 missense mutation in an Asian family with inherited nephrogenic diabetes insipidus: A case report.
Zhang M; Yu Q; Chen C; Han J; Cheng B; Tian D
Medicine (Baltimore); 2019 Apr; 98(17):e15348. PubMed ID: 31027113
[TBL] [Abstract][Full Text] [Related]
35. 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. PubMed ID: 18473191
[TBL] [Abstract][Full Text] [Related]
36. GENETICS IN ENDOCRINOLOGY Pathophysiology, diagnosis and treatment of familial nephrogenic diabetes insipidus.
Bichet DG
Eur J Endocrinol; 2020 Aug; 183(2):R29-R40. PubMed ID: 32580146
[TBL] [Abstract][Full Text] [Related]
37. Nephrogenic diabetes insipidus.
Bichet DG
Am J Med; 1998 Nov; 105(5):431-42. PubMed ID: 9831428
[TBL] [Abstract][Full Text] [Related]
38. Vasopressin receptor mutations causing nephrogenic diabetes insipidus.
Bichet DG; Turner M; Morin D
Proc Assoc Am Physicians; 1998; 110(5):387-94. PubMed ID: 9756088
[TBL] [Abstract][Full Text] [Related]
39. 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. PubMed ID: 22386940
[TBL] [Abstract][Full Text] [Related]
40. Contiguous 22.1-kb deletion embracing AVPR2 and ARHGAP4 genes at novel breakpoints leads to nephrogenic diabetes insipidus in a Chinese pedigree.
Bai Y; Chen Y; Kong X
BMC Nephrol; 2018 Feb; 19(1):26. PubMed ID: 29394883
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
