205 related articles for article (PubMed ID: 11836335)
1. Effects of aging on vasopressin production in a kindred with autosomal dominant neurohypophyseal diabetes insipidus due to the DeltaE47 neurophysin mutation.
Mahoney CP; Weinberger E; Bryant C; Ito M; Jameson JL; Ito M
J Clin Endocrinol Metab; 2002 Feb; 87(2):870-6. PubMed ID: 11836335
[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 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]
5. Autosomal dominant neurohypophyseal diabetes insipidus due to substitution of histidine for tyrosine(2) in the vasopressin moiety of the hormone precursor.
Rittig S; Siggaard C; Ozata M; Yetkin I; Gregersen N; Pedersen EB; Robertson GL
J Clin Endocrinol Metab; 2002 Jul; 87(7):3351-5. PubMed ID: 12107248
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. 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]
10. A novel mutation in the preprovasopressin gene identified in a kindred with autosomal dominant neurohypophyseal diabetes insipidus.
Wahlstrom JT; Fowler MJ; Nicholson WE; Kovacs WJ
J Clin Endocrinol Metab; 2004 Apr; 89(4):1963-8. PubMed ID: 15070970
[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. Growth retardation in untreated autosomal dominant familial neurohypophyseal diabetes insipidus caused by one recurring and two novel mutations in the vasopressin-neurophysin II gene.
Brachet C; Birk J; Christophe C; Tenoutasse S; Velkeniers B; Heinrichs C; Rutishauser J
Eur J Endocrinol; 2011 Feb; 164(2):179-87. PubMed ID: 21088058
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. [Mutations in the arginine vasopressin neurophysin-II gene in familial neurohypophyseal diabetes insipidus patients].
Peralta-Leal V; Durán-González J; Leal-Ugarte E
Rev Invest Clin; 2008; 60(3):255-62. PubMed ID: 18807739
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Autosomal dominant neurohypophyseal diabetes insipidus with linkage to chromosome 20p13 but without mutations in the AVP-NPII gene.
Ye L; Li X; Chen Y; Sun H; Wang W; Su T; Jiang L; Cui B; Ning G
J Clin Endocrinol Metab; 2005 Jul; 90(7):4388-93. PubMed ID: 15811933
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. Clinical and molecular evidence of abnormal processing and trafficking of the vasopressin preprohormone in a large kindred with familial neurohypophyseal diabetes insipidus due to a signal peptide mutation.
Siggaard C; Rittig S; Corydon TJ; Andreasen PH; Jensen TG; Andresen BS; Robertson GL; Gregersen N; Bolund L; Pedersen EB
J Clin Endocrinol Metab; 1999 Aug; 84(8):2933-41. PubMed ID: 10443701
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]