Associated Papers
The Novel Ser18del AVP Variant Causes Inherited Neurohypophyseal Diabetes Insipidus by Mechanisms Shared with Other Signal Peptide Variants.
Toustrup LB et al.
Neuroendocrinology, 2018
Familial neurohypophyseal diabetes insipidus--an update.
Christensen JH et al.
Seminars in Nephrology, 2006
Expression of three different mutations in the arginine vasopressin gene suggests genotype-phenotype correlation in familial neurohypophyseal diabetes insipidus kindreds.
Siggaard C et al.
Clinical Endocrinology, 2005
Six novel mutations in the arginine vasopressin gene in 15 kindreds with autosomal dominant familial neurohypophyseal diabetes insipidus give further insight into the pathogenesis.
Christensen JH et al.
European Journal of Human Genetics : Ejhg, 2004
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 et al.
The Journal of Clinical Endocrinology and Metabolism, 1998
Recurrent mutations in the vasopressin-neurophysin II gene cause autosomal dominant neurohypophyseal diabetes insipidus.
Repaske DR et al.
The Journal of Clinical Endocrinology and Metabolism, 1996
Identification of 13 new mutations in the vasopressin-neurophysin II gene in 17 kindreds with familial autosomal dominant neurohypophyseal diabetes insipidus.
Rittig S et al.
American Journal of Human Genetics, 1996
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