231 related articles for article (PubMed ID: 32073219)
1. A female with X-linked Nephrogenic diabetes insipidus in a family with inherited central diabetes Insipidus: Case report and review of the literature.
Ding C; Beetz R; Rittner G; Bartsch O
Am J Med Genet A; 2020 May; 182(5):1032-1040. PubMed ID: 32073219
[TBL] [Abstract][Full Text] [Related]
2. AQP2: Mutations Associated with Congenital Nephrogenic Diabetes Insipidus and Regulation by Post-Translational Modifications and Protein-Protein Interactions.
Gao C; Higgins PJ; Zhang W
Cells; 2020 Sep; 9(10):. PubMed ID: 32993088
[TBL] [Abstract][Full Text] [Related]
3. A Novel Missense Mutation of Arginine Vasopressin Receptor 2 in a Chinese Family with Congenital Nephrogenic Diabetes Insipidus: X-Chromosome Inactivation in Female CNDI Patients with Heterozygote 814A>G Mutation.
Zang L; Gong Y; Li Y; Dou J; Lyu Z; Su X; Zhang Y; Mu Y
Biomed Res Int; 2022; 2022():7073158. PubMed ID: 35865667
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 17941907
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 27156763
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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. PubMed ID: 26795631
[TBL] [Abstract][Full Text] [Related]
8. 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;
Eur J Pediatr; 2015 Oct; 174(10):1373-85. PubMed ID: 25902753
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. Hereditary Nephrogenic Diabetes Insipidus: Pathophysiology and Possible Treatment. An Update.
Milano S; Carmosino M; Gerbino A; Svelto M; Procino G
Int J Mol Sci; 2017 Nov; 18(11):. PubMed ID: 29125546
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 16845277
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 7607658
[TBL] [Abstract][Full Text] [Related]
14. Nephrogenic diabetes insipidus.
Bichet DG
Adv Chronic Kidney Dis; 2006 Apr; 13(2):96-104. PubMed ID: 16580609
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 9402087
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. A Novel Mutation in the
Çelebi Tayfur A; Karaduman T; Özcan Türkmen M; Şahin D; Çaltık Yılmaz A; Büyükkaragöz B; Buluş AD; Mergen H
J Clin Res Pediatr Endocrinol; 2018 Nov; 10(4):350-356. PubMed ID: 29991464
[TBL] [Abstract][Full Text] [Related]
18. Report of 33 novel AVPR2 mutations and analysis of 117 families with X-linked nephrogenic diabetes insipidus.
Arthus MF; Lonergan M; Crumley MJ; Naumova AK; Morin D; DE Marco LA; Kaplan BS; Robertson GL; Sasaki S; Morgan K; Bichet DG; Fujiwara TM
J Am Soc Nephrol; 2000 Jun; 11(6):1044-1054. PubMed ID: 10820168
[TBL] [Abstract][Full Text] [Related]
19. Mutations in the AVPR2, AVP-NPII, and AQP2 genes in Turkish patients with diabetes insipidus.
Duzenli D; Saglar E; Deniz F; Azal O; Erdem B; Mergen H
Endocrine; 2012 Dec; 42(3):664-9. PubMed ID: 22644838
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 18726898
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
