184 related articles for article (PubMed ID: 9360520)
1. Autosomal dominant neurohypophyseal diabetes insipidus associated with a missense mutation encoding Gly23-->Val in neurophysin II.
Gagliardi PC; Bernasconi S; Repaske DR
J Clin Endocrinol Metab; 1997 Nov; 82(11):3643-6. PubMed ID: 9360520
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. A novel point mutation in the translation initiation codon of the pre-pro-vasopressin-neurophysin II gene: cosegregation with morphological abnormalities and clinical symptoms in autosomal dominant neurohypophyseal diabetes insipidus.
Rutishauser J; Böni-Schnetzler M; Böni J; Wichmann W; Huisman T; Vallotton MB; Froesch ER
J Clin Endocrinol Metab; 1996 Jan; 81(1):192-8. PubMed ID: 8550751
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. Clinical and molecular analysis of three families with autosomal dominant neurohypophyseal diabetes insipidus associated with a novel and recurrent mutations in the vasopressin-neurophysin II gene.
Rutishauser J; Kopp P; Gaskill MB; Kotlar TJ; Robertson GL
Eur J Endocrinol; 2002 May; 146(5):649-56. PubMed ID: 11980620
[TBL] [Abstract][Full Text] [Related]
11. 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]
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. A de novo mutation in the coding sequence for neurophysin-II (Pro24-->Leu) is associated with onset and transmission of autosomal dominant neurohypophyseal diabetes insipidus.
Repaske DR; Browning JE
J Clin Endocrinol Metab; 1994 Aug; 79(2):421-7. PubMed ID: 8045958
[TBL] [Abstract][Full Text] [Related]
14. Identification of a novel nonsense mutation and a missense substitution in the vasopressin-neurophysin II gene in two Spanish kindreds with familial neurohypophyseal diabetes insipidus.
Calvo B; Bilbao JR; Urrutia I; Eizaguirre J; Gaztambide S; Castaño L
J Clin Endocrinol Metab; 1998 Mar; 83(3):995-7. PubMed ID: 9580132
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Molecular analysis of autosomal dominant neurohypophyseal diabetes insipidus.
Repaske DR; Phillips JA; Kirby LT; Tze WJ; D'Ercole AJ; Battey J
J Clin Endocrinol Metab; 1990 Mar; 70(3):752-7. PubMed ID: 1968469
[TBL] [Abstract][Full Text] [Related]
17. A missense mutation in the vasopressin-neurophysin precursor gene cosegregates with human autosomal dominant neurohypophyseal diabetes insipidus.
Bahnsen U; Oosting P; Swaab DF; Nahke P; Richter D; Schmale H
EMBO J; 1992 Jan; 11(1):19-23. PubMed ID: 1740104
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Two novel mutations in the coding region for neurophysin-II associated with familial central diabetes insipidus.
Nagasaki H; Ito M; Yuasa H; Saito H; Fukase M; Hamada K; Ishikawa E; Katakami H; Oiso Y
J Clin Endocrinol Metab; 1995 Apr; 80(4):1352-6. PubMed ID: 7714110
[TBL] [Abstract][Full Text] [Related]
20. Molecular analysis in familial neurohypophyseal diabetes insipidus: early diagnosis of an asymptomatic carrier.
Calvo B; Bilbao JR; Rodríguez A; Rodríguez-Arnao MD; Castaño L
J Clin Endocrinol Metab; 1999 Sep; 84(9):3351-4. PubMed ID: 10487710
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]