Associated Papers
Familial neurohypophyseal diabetes insipidus: clinical, genetic and functional studies of novel mutations in the arginine vasopressin gene.
Alvelos MI et al.
Pituitary, 2021
Central Diabetes Insipidus Caused by Arginine Vasopressin Gene Mutation: Report of a Novel Mutation and Review of Literature.
Feldkamp LLI et al.
Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 2020
Familial neurohypophyseal diabetes insipidus--an update.
Christensen JH et al.
Seminars in Nephrology, 2006
Identification of a novel mutation in the arginine vasopressin-neurophysin II gene affecting the sixth intrachain disulfide bridge of the neurophysin II moiety.
Baglioni S et al.
European Journal of Endocrinology, 2004
A murine model of autosomal dominant neurohypophyseal diabetes insipidus reveals progressive loss of vasopressin-producing neurons.
Russell TA et al.
The Journal of Clinical Investigation, 2003
Progressive decline of vasopressin secretion in familial autosomal dominant neurohypophyseal diabetes insipidus presenting a novel mutation in the vasopressin-neurophysin II gene.
Elias PC et al.
Clinical Endocrinology, 2003
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 et al.
European Journal of Endocrinology, 2002
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 et al.
European Journal of Endocrinology, 2001
A novel mutation (R97C) in the neurophysin moiety of prepro-vasopressin-neurophysin II associated with autosomal-dominant neurohypophyseal diabetes insipidus.
Rutishauser J et al.
Molecular Genetics and Metabolism, 1999
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