Associated Papers
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
Forty-One Individuals With Mutations in the AVP-NPII Gene Associated With Familial Neurohypophyseal Diabetes Insipidus.
García-Castaño A et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Autosomal dominant neurohypophyseal diabetes insipidus in two families. Molecular analysis of the vasopressin-neurophysin II gene and functional studies of three missense mutations.
Hedrich CM et al.
Hormone Research, 2009
Gene symbol: AVP. Disease: Diabetes Insipidus, neurohypophyseal.
Bruggeman EJ
Human Genetics, 2008
Familial neurohypophyseal diabetes insipidus--an update.
Christensen JH et al.
Seminars in Nephrology, 2006
Differential cellular handling of defective arginine vasopressin (AVP) prohormones in cells expressing mutations of the AVP gene associated with autosomal dominant and recessive familial neurohypophyseal diabetes insipidus.
Christensen JH et al.
The Journal of Clinical Endocrinology and Metabolism, 2004
Impaired trafficking of mutated AVP prohormone in cells expressing rare disease genes causing autosomal dominant familial neurohypophyseal diabetes insipidus.
Christensen JH et al.
Clinical Endocrinology, 2004
Autosomal dominant familial neurohypophyseal diabetes insipidus.
Christensen JH et al.
Apmis. Supplementum, 2003
A family with congenital hypothalamic neurohypophyseal diabetes insipidus.
Meinders AE et al.
Folia Medica Neerlandica, 1970
Identification of an AVP-NPII mutation within the AVP moiety in a family with neurohypophyseal diabetes insipidus: review of the literature.
Koufaris C et al.
Hormones (athens, Greece), 0
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