175 related articles for article (PubMed ID: 22307687)
1. Clinical and molecular analysis of a Chinese family with autosomal dominant neurohypophyseal diabetes insipidus associated with a novel missense mutation in the vasopressin-neurophysin II gene.
Luo Y; Wang B; Qiu Y; Zhang C; Jin C; Zhao Y; Zhu Q; Ma X
Endocrine; 2012 Aug; 42(1):208-13. PubMed ID: 22307687
[TBL] [Abstract][Full Text] [Related]
2. Mutation of Glu78 of the AVP-NPII gene impairs neurophysin as a carrier protein for arginine vasopressin in a family with neurohypophyseal diabetes insipidus.
Lee YW; Lee KW; Ryu JW; Mok JO; Ki CS; Park HK; Kim YJ; Kim SJ; Byun DW; Suh KI; Yoo MH; Shin HB; Lee YK; Kim CH
Ann Clin Lab Sci; 2008; 38(1):12-4. PubMed ID: 18316776
[TBL] [Abstract][Full Text] [Related]
3. A missense mutation in the arginine-vasopressin neurophysin-II gene causes autosomal dominant neurohypophyseal diabetes insipidus in a Chinese family.
Ye D; Dong F; Lu W; Zhang Z; Lu X; Li C; Liu Y
Clin Endocrinol (Oxf); 2013 Jun; 78(6):920-5. PubMed ID: 23252994
[TBL] [Abstract][Full Text] [Related]
4. A missense mutation encoding Cys73Phe in neurophysin II is associated with autosomal dominant neurohypophyseal diabetes insipidus.
Santiprabhob J; Browning J; Repaske D
Mol Genet Metab; 2002; 77(1-2):112-8. PubMed ID: 12359138
[TBL] [Abstract][Full Text] [Related]
5. A novel mutation in the coding region for neurophysin-II is associated with autosomal dominant neurohypophyseal diabetes insipidus.
Rauch F; Lenzner C; Nürnberg P; Frömmel C; Vetter U
Clin Endocrinol (Oxf); 1996 Jan; 44(1):45-51. PubMed ID: 8706292
[TBL] [Abstract][Full Text] [Related]
6. A new missense mutation of the vasopressin-neurophysin II gene in a family with neurohypophyseal diabetes insipidus.
Wolf MT; Dötsch J; Metzler M; Holder M; Repp R; Rascher W
Horm Res; 2003; 60(3):143-7. PubMed ID: 12931042
[TBL] [Abstract][Full Text] [Related]
7. Progressive decline of vasopressin secretion in familial autosomal dominant neurohypophyseal diabetes insipidus presenting a novel mutation in the vasopressin-neurophysin II gene.
Elias PC; Elias LL; Torres N; Moreira AC; Antunes-Rodrigues J; Castro M
Clin Endocrinol (Oxf); 2003 Oct; 59(4):511-8. PubMed ID: 14510916
[TBL] [Abstract][Full Text] [Related]
8. A new mutation of the arginine vasopressin-neurophysin II gene in a family with autosomal dominant neurohypophyseal diabetes insipidus.
Mundschenk J; Rittig S; Siggaard C; Hensen J; Lehnert H
Exp Clin Endocrinol Diabetes; 2001; 109(8):406-9. PubMed ID: 11748489
[TBL] [Abstract][Full Text] [Related]
9. Identification of a novel mutation in the arginine vasopressin-neurophysin II gene affecting the sixth intrachain disulfide bridge of the neurophysin II moiety.
Baglioni S; Corona G; Maggi M; Serio M; Peri A
Eur J Endocrinol; 2004 Nov; 151(5):605-11. PubMed ID: 15538939
[TBL] [Abstract][Full Text] [Related]
10. Identification of a novel mutation in the arginine vasopressin-neurophysin II gene in familial central diabetes insipidus.
Bullmann C; Kotzka J; Grimm T; Heppner C; Jockenhövel F; Krone W; Müller-Wieland D
Exp Clin Endocrinol Diabetes; 2002 May; 110(3):134-7. PubMed ID: 12012274
[TBL] [Abstract][Full Text] [Related]
11. A missense mutation encoding cys(67) --> gly in neurophysin ii is associated with early onset autosomal dominant neurohypophyseal diabetes insipidus.
DiMeglio LA; Gagliardi PC; Browning JE; Quigley CA; Repaske DR
Mol Genet Metab; 2001 Jan; 72(1):39-44. PubMed ID: 11161827
[TBL] [Abstract][Full Text] [Related]
12. A novel splice site mutation of the arginine vasopressin-neurophysin II gene identified in a kindred with autosomal dominant familial neurohypophyseal diabetes insipidus.
Tae HJ; Baek KH; Shim SM; Yoo SJ; Kang MI; Cha BY; Lee KW; Son HY; Kang SK
Mol Genet Metab; 2005; 86(1-2):307-13. PubMed ID: 16006166
[TBL] [Abstract][Full Text] [Related]
13. Autosomal dominant neurohypophyseal diabetes insipidus in a Swiss family, caused by a novel mutation (C59Delta/A60W) in the neurophysin moiety of prepro-vasopressin-neurophysin II (AVP-NP II).
Flück CE; Deladoëy J; Nayak S; Zeller O; Kopp P; Mullis PE
Eur J Endocrinol; 2001 Oct; 145(4):439-44. PubMed ID: 11581002
[TBL] [Abstract][Full Text] [Related]
14. A novel mutation (R97C) in the neurophysin moiety of prepro-vasopressin-neurophysin II associated with autosomal-dominant neurohypophyseal diabetes insipidus.
Rutishauser J; Kopp P; Gaskill MB; Kotlar TJ; Robertson GL
Mol Genet Metab; 1999 May; 67(1):89-92. PubMed ID: 10329029
[TBL] [Abstract][Full Text] [Related]
15. Familial neurohypophyseal diabetes insipidus associated with a novel mutation in the vasopressin-neurophysin II gene.
Fujii H; Iida S; Moriwaki K
Int J Mol Med; 2000 Mar; 5(3):229-34. PubMed ID: 10677561
[TBL] [Abstract][Full Text] [Related]
16. Familial neurohypophyseal diabetes insipidus due to a novel mutation in the arginine vasopressin-neurophysin II gene.
de Fost M; van Trotsenburg AS; van Santen HM; Endert E; van den Elzen C; Kamsteeg EJ; Swaab DF; Fliers E
Eur J Endocrinol; 2011 Jul; 165(1):161-5. PubMed ID: 21498630
[TBL] [Abstract][Full Text] [Related]
17. Familial neurohypophyseal diabetes insipidus: clinical, genetic and functional studies of novel mutations in the arginine vasopressin gene.
Alvelos MI; Francisco Â; Gomes L; Paiva I; Melo M; Marques P; Gama-de-Sousa S; Carreiro S; Quintela T; Gonçalves I; Lemos MC
Pituitary; 2021 Jun; 24(3):400-411. PubMed ID: 33433888
[TBL] [Abstract][Full Text] [Related]
18. Heterogeneity in clinical manifestation of autosomal dominant neurohypophyseal diabetes insipidus caused by a mutation encoding Ala-1-->Val in the signal peptide of the arginine vasopressin/neurophysin II/copeptin precursor.
Repaske DR; Medlej R; Gültekin EK; Krishnamani MR; Halaby G; Findling JW; Phillips JA
J Clin Endocrinol Metab; 1997 Jan; 82(1):51-6. PubMed ID: 8989232
[TBL] [Abstract][Full Text] [Related]
19. A novel arginine vasopressin-neurophysin II mutation causes autosomal dominant neurohypophyseal diabetes insipidus and morphologic pituitary changes.
Skordis N; Patsalis PC; Hettinger JA; Kontou M; Herakleous E; Krishnamani MR; Phillips JA
Horm Res; 2000; 53(5):239-45. PubMed ID: 11150885
[TBL] [Abstract][Full Text] [Related]
20. A single base substitution in the coding region for neurophysin II associated with familial central diabetes insipidus.
Ito M; Mori Y; Oiso Y; Saito H
J Clin Invest; 1991 Feb; 87(2):725-8. PubMed ID: 1840604
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]