|
Central Diabetes Insipidus
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of a novel mutation in the arginine vasopressin-neurophysin II gene affecting the sixth intrachain disulfide bridge of the neurophysin II moiety.
|
15538939 |
2004 |
|
Central Diabetes Insipidus
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A new missense mutation of the vasopressin-neurophysin II gene in a family with neurohypophyseal diabetes insipidus.
|
12931042 |
2003 |
|
Central Diabetes Insipidus
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A missense mutation encoding Cys73Phe in neurophysin II is associated with autosomal dominant neurohypophyseal diabetes insipidus.
|
12359138 |
2003 |
|
Central Diabetes Insipidus
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A signal peptide mutation of the arginine vasopressin gene in monozygotic twins.
|
12519420 |
2003 |
|
Central Diabetes Insipidus
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Autosomal dominant neurohypophyseal diabetes insipidus due to substitution of histidine for tyrosine(2) in the vasopressin moiety of the hormone precursor.
|
12107248 |
2002 |
|
Central Diabetes Insipidus
|
|
0.800 |
GeneticVariation
|
UNIPROT |
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.
|
11980620 |
2002 |
|
Central Diabetes Insipidus
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Familial neurohypophysial diabetes insipidus in a large Dutch kindred: effect of the onset of diabetes on growth in children and cell biological defects of the mutant vasopressin prohormone.
|
11443218 |
2001 |
|
Central Diabetes Insipidus
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A missense mutation encoding cys(67) --> gly in neurophysin ii is associated with early onset autosomal dominant neurohypophyseal diabetes insipidus.
|
11161827 |
2001 |
|
Central Diabetes Insipidus
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of two distinct mutations at the same nucleotide position, concomitantly with a novel polymorphism in the vasopressin-neurophysin II gene (AVP-NP II) in two dutch families with familial neurohypophyseal diabetes insipidus.
|
11017955 |
2000 |
|
Central Diabetes Insipidus
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Familial neurohypophyseal diabetes insipidus associated with a novel mutation in the vasopressin-neurophysin II gene.
|
10677561 |
2000 |
|
Central Diabetes Insipidus
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Autosomal recessive familial neurohypophyseal diabetes insipidus with continued secretion of mutant weakly active vasopressin.
|
10369876 |
1999 |
|
Central Diabetes Insipidus
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular analysis in familial neurohypophyseal diabetes insipidus: early diagnosis of an asymptomatic carrier.
|
10487710 |
1999 |
|
Central Diabetes Insipidus
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Two novel mutations of the vasopressin gene associated with familial diabetes insipidus and identification of an asymptomatic carrier infant.
|
9814475 |
1998 |
|
Central Diabetes Insipidus
|
|
0.800 |
GeneticVariation
|
UNIPROT |
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.
|
9580132 |
1998 |
|
Central Diabetes Insipidus
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Autosomal dominant neurohypophyseal diabetes insipidus associated with a missense mutation encoding Gly23-->Val in neurophysin II.
|
9360520 |
1997 |
|
Central Diabetes Insipidus
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of 13 new mutations in the vasopressin-neurophysin II gene in 17 kindreds with familial autosomal dominant neurohypophyseal diabetes insipidus.
|
8554046 |
1996 |
|
Central Diabetes Insipidus
|
|
0.800 |
GeneticVariation
|
UNIPROT |
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.
|
8045958 |
1994 |
|
Central Diabetes Insipidus
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Familial neurohypophyseal diabetes insipidus associated with a signal peptide mutation.
|
8370682 |
1993 |
|
Central Diabetes Insipidus
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Glu-47, which forms a salt bridge between neurophysin-II and arginine vasopressin, is deleted in patients with familial central diabetes insipidus.
|
8103767 |
1993 |
|
Central Diabetes Insipidus
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A missense mutation in the vasopressin-neurophysin precursor gene cosegregates with human autosomal dominant neurohypophyseal diabetes insipidus.
|
1740104 |
1992 |
|
Central Diabetes Insipidus
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|