-
1
-
-
0008241079
-
Dominant inheritance of diabetes insipidus. A family study
-
Pender CB, Fraser FC (1953) Dominant inheritance of diabetes insipidus. A family study. Pediatrics 11: 246-254.
-
(1953)
Pediatrics
, vol.11
, pp. 246-254
-
-
Pender, C.B.1
Fraser, F.C.2
-
2
-
-
0033987778
-
Human gene mutation database-A biomedical information and research resource
-
Krawczak M, Ball EV, Fenton I, Stenson PD, Abeysinghe S, Thomas N, Cooper DN (2000) Human gene mutation database-A biomedical information and research resource. Hum Mutat 15: 45-51.
-
(2000)
Hum Mutat
, vol.15
, pp. 45-51
-
-
Krawczak, M.1
Ball, E.V.2
Fenton, I.3
Stenson, P.D.4
Abeysinghe, S.5
Thomas, N.6
Cooper, D.N.7
-
3
-
-
0025973553
-
A single base substitution in the coding region for neurophysin II associated with familial central diabetes insipidus
-
Ito M, Mori Y, Oiso V. Saito H (1991) A single base substitution in the coding region for neurophysin II associated with familial central diabetes insipidus. J Clin Invest 87: 725-728.
-
(1991)
J Clin Invest
, vol.87
, pp. 725-728
-
-
Ito, M.1
Mori, Y.2
Oiso, V.3
Saito, H.4
-
4
-
-
0036236722
-
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, Jockenhovel F, Krone W, Muller-Wieland D (2002) Identification of a novel mutation in the arginine vasopressin-neurophysin II gene in familial central diabetes insipidus. Exp Clin Endoerinol Diabetes 110: 134-137.
-
(2002)
Exp Clin Endoerinol Diabetes
, vol.110
, pp. 134-137
-
-
Bullmann, C.1
Kotzka, J.2
Grimm, T.3
Heppner, C.4
Jockenhovel, F.5
Krone, W.6
Muller-Wieland, D.7
-
5
-
-
0036395154
-
A missense mutation encoding Cys73Phe in neurophysin II is associated with autosomal dominant neurohypophyseal diabetes insipidus
-
Santiprabhob J, Browning J, Repaske D (2002) A missense mutation encoding Cys73Phe in neurophysin II is associated with autosomal dominant neurohypophyseal diabetes insipidus. Mol Genet Metab 77: 112-118.
-
(2002)
Mol Genet Metab
, vol.77
, pp. 112-118
-
-
Santiprabhob, J.1
Browning, J.2
Repaske, D.3
-
6
-
-
0037236853
-
A signal peptide mutation of the arginine vasopressin gene in monozygotic twins
-
Boson WL, Sarubi JC, d'Alva CB, Friedman E, Faria D, De Marco L, Wajchenberg B (2003) A signal peptide mutation of the arginine vasopressin gene in monozygotic twins. Clin Endocrinol (Oxf) 58: 108-110.
-
(2003)
Clin Endocrinol (Oxf)
, vol.58
, pp. 108-110
-
-
Boson, W.L.1
Sarubi, J.C.2
D'Alva, C.B.3
Friedman, E.4
Faria, D.5
De Marco, L.6
Wajchenberg, B.7
-
7
-
-
0141728373
-
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 (2003) Progressive decline of vasopressin secretion in familial autosomal dominant neurohypophyseal diabetes insipidus presenting a novel mutation in the vasopressin-neurophysin II gene. Clin Endocrinol (Oxf) 59:511-518.
-
(2003)
Clin Endocrinol (Oxf)
, vol.59
, pp. 511-518
-
-
Elias, P.C.1
Elias, L.L.2
Torres, N.3
Moreira, A.C.4
Antunes-Rodrigues, J.5
Castro, M.6
-
8
-
-
0042386243
-
A new missense mutation of the vasopressin-neurophysin II gene in a family with neurohypophyseal diabetes insipidus
-
Wolf MT, Dotsch J, Metzler M, Holder M, Repp R, Rascher W (2003) A new missense mutation of the vasopressin-neurophysin II gene in a family with neurohypophyseal diabetes insipidus. Horm Res 60: 143-147.
-
(2003)
Horm Res
, vol.60
, pp. 143-147
-
-
Wolf, M.T.1
Dotsch, J.2
Metzler, M.3
Holder, M.4
Repp, R.5
Rascher, W.6
-
9
-
-
0027381580
-
Glu-47 that is essential for neurophysin II to form a salt bridge with arginine vasopressin is deleted in patients with familial central diabetes insipidus
-
Yuasa H, Ito M, Nagasaki H, Oiso Y, Miyamoto SH, Sasaki N, Saito H (1993) Glu-47 that is essential for neurophysin II to form a salt bridge with arginine vasopressin is deleted in patients with familial central diabetes insipidus. J Clin Endocrinol Metab 77: 600-604.
-
(1993)
J Clin Endocrinol Metab
, vol.77
, pp. 600-604
-
-
Yuasa, H.1
Ito, M.2
Nagasaki, H.3
Oiso, Y.4
Miyamoto, S.H.5
Sasaki, N.6
Saito, H.7
-
10
-
-
0029786384
-
The behavior of the active site salt bridge of bovine neurophysins as monitored by 15N NMR spectroscopy and chemical substitution. Relationship to biochemical properties
-
Zheng C, Cahill S, Breslow E (1996) The behavior of the active site salt bridge of bovine neurophysins as monitored by 15N NMR spectroscopy and chemical substitution. Relationship to biochemical properties. Biochemistry 35: 11763-11772.
-
(1996)
Biochemistry
, vol.35
, pp. 11763-11772
-
-
Zheng, C.1
Cahill, S.2
Breslow, E.3
-
11
-
-
0033597771
-
Mutations in the vasopressin prohormone involved in diabetes insipidus impair endoplasmic reticulum export but not sorting
-
Nijenhuis M, Zalm R, Burbach JP (1999) Mutations in the vasopressin prohormone involved in diabetes insipidus impair endoplasmic reticulum export but not sorting. J Biol Chem 274: 21200-21208.
-
(1999)
J Biol Chem
, vol.274
, pp. 21200-21208
-
-
Nijenhuis, M.1
Zalm, R.2
Burbach, J.P.3
-
12
-
-
0025371631
-
Atrial natriuretic peptide in patients with the syndrome of inappropriate antidiuretic hormone secretion and with diabetes insipidus
-
Kamoi K, Ebe T, Kobayashi O, Ishida M, Sato F, Arai O, Tamura T, Takagi A, Yamada A, Ishibashi M, Yamaji T (1990) Atrial natriuretic peptide in patients with the syndrome of inappropriate antidiuretic hormone secretion and with diabetes insipidus. J Clin Endocrinol Metab 70: 1385-1390.
-
(1990)
J Clin Endocrinol Metab
, vol.70
, pp. 1385-1390
-
-
Kamoi, K.1
Ebe, T.2
Kobayashi, O.3
Ishida, M.4
Sato, F.5
Arai, O.6
Tamura, T.7
Takagi, A.8
Yamada, A.9
Ishibashi, M.10
Yamaji, T.11
-
13
-
-
0033040002
-
Osmoregulation of vasopressin secretion in patients with the syndrome of inappropriate antidiuresis associated with central nervous system disorders
-
Kamoi K, Toyama M, Takagi M, Koizumi T, Niishiyama K, Takahashi K, Sasaki H, Muto T (1999). Osmoregulation of vasopressin secretion in patients with the syndrome of inappropriate antidiuresis associated with central nervous system disorders. Endocr J 46: 269-277.
-
(1999)
Endocr J
, vol.46
, pp. 269-277
-
-
Kamoi, K.1
Toyama, M.2
Takagi, M.3
Koizumi, T.4
Niishiyama, K.5
Takahashi, K.6
Sasaki, H.7
Muto, T.8
-
14
-
-
0029655385
-
Identification of 13 new mutations in the vasopressin-neurophysin II gene in 17 kindreds with familial autosomal dominant neurohypophyseal diabetes insipidus
-
Rittig S, Robertson GL, Siggaard C, Kovacs L, Gregersen N, Nyborg J, Pedersen EB (1996) Identification of 13 new mutations in the vasopressin-neurophysin II gene in 17 kindreds with familial autosomal dominant neurohypophyseal diabetes insipidus. Am J Hum Genet 58: 107-117.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 107-117
-
-
Rittig, S.1
Robertson, G.L.2
Siggaard, C.3
Kovacs, L.4
Gregersen, N.5
Nyborg, J.6
Pedersen, E.B.7
-
15
-
-
0033334318
-
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 (1999) 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. J Clin Endocrinol Metab 84: 2933-2941.
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 2933-2941
-
-
Siggaard, C.1
Rittig, S.2
Corydon, T.J.3
Andreasen, P.H.4
Jensen, T.G.5
Andresen, B.S.6
Robertson, G.L.7
Gregersen, N.8
Bolund, L.9
Pedersen, E.B.10
-
16
-
-
0036113787
-
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 (2002) 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. Eur J Endocrinol 146: 649-656.
-
(2002)
Eur J Endocrinol
, vol.146
, pp. 649-656
-
-
Rutishauser, J.1
Kopp, P.2
Gaskill, M.B.3
Kotlar, T.J.4
Robertson, G.L.5
-
17
-
-
0023102848
-
Posterior lobe of the pituitary in diabetes insipidus: MR findings
-
Fujisawa I, Nishimura K, Asato R, Togashi K, Itoh K, Noma S, Kawamura Y, Sago T, Minami S, Nakano Y, Itoh H, Torizuka K (1987). Posterior lobe of the pituitary in diabetes insipidus: MR findings. J Comput Assist Tomogr 11:221-225.
-
(1987)
J Comput Assist Tomogr
, vol.11
, pp. 221-225
-
-
Fujisawa, I.1
Nishimura, K.2
Asato, R.3
Togashi, K.4
Itoh, K.5
Noma, S.6
Kawamura, Y.7
Sago, T.8
Minami, S.9
Nakano, Y.10
Itoh, H.11
Torizuka, K.12
-
18
-
-
0025727290
-
Magnetic resonance imaging in familial central diabetes insipidus
-
Miyamoto S, Sasaki N, Tanabe Y (1991) Magnetic resonance imaging in familial central diabetes insipidus. Neuroradiology 33: 272-273.
-
(1991)
Neuroradiology
, vol.33
, pp. 272-273
-
-
Miyamoto, S.1
Sasaki, N.2
Tanabe, Y.3
-
19
-
-
0026522338
-
Correlation between magnetic resonance imaging of posterior pituitary and neurohypophyseal function in children with diabetes insipidus
-
Maghnie M, Villa A, Arico M, Larizza D, Pezzotta S, Beluffi G, Genovese E, Severi F (1992) Correlation between magnetic resonance imaging of posterior pituitary and neurohypophyseal function in children with diabetes insipidus. J Clin Endocrinol Metab 74: 795-800.
-
(1992)
J Clin Endocrinol Metab
, vol.74
, pp. 795-800
-
-
Maghnie, M.1
Villa, A.2
Arico, M.3
Larizza, D.4
Pezzotta, S.5
Beluffi, G.6
Genovese, E.7
Severi, F.8
-
20
-
-
0030670882
-
Autosomal dominant neurohypophyseal diabetes insipidus associated with a missense mutation encoding Gly23→ Va1 in neurophysin II
-
Gagliardi PC, Bernasconi S, Repaske DR (1997) Autosomal dominant neurohypophyseal diabetes insipidus associated with a missense mutation encoding Gly23→ Va1 in neurophysin II. J Clin Endocrinol Metab 82: 3643-3646.
-
(1997)
J Clin Endocrinol Metab
, vol.82
, pp. 3643-3646
-
-
Gagliardi, P.C.1
Bernasconi, S.2
Repaske, D.R.3
-
21
-
-
0019192921
-
Prolonged antidiuresis by 1-desamino-8-arginine vasopressin (DDAVP): Correlation to its plasma levels and nephrogeneous cyclic AMP production
-
Katayama S, Itabashi A, Yamaji T (1980) Prolonged antidiuresis by 1-desamino-8-arginine vasopressin (DDAVP): Correlation to its plasma levels and nephrogeneous cyclic AMP production. Endocrinol Jpn 27: 363-370.
-
(1980)
Endocrinol Jpn
, vol.27
, pp. 363-370
-
-
Katayama, S.1
Itabashi, A.2
Yamaji, T.3
-
23
-
-
0027669942
-
Molecular genetics of familiar central diabetes insipidus
-
Miller WL (1993) Molecular genetics of familiar central diabetes insipidus. J Clin Endocrinol Metab 77: 592-595.
-
(1993)
J Clin Endocrinol Metab
, vol.77
, pp. 592-595
-
-
Miller, W.L.1
|