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
A Novel Synonymous Variant in the AVP Gene Associated with Autosomal Dominant Familial Neurohypophyseal Diabetes Insipidus Causes Partial RNA Missplicing.
Kvistgaard H et al.
Neuroendocrinology, 2018
Identification of five novel arginine vasopressin gene mutations in patients with familial neurohypophyseal diabetes insipidus.
Tian D et al.
International Journal of Molecular Medicine, 2016
Early-Onset Central Diabetes Insipidus due to Compound Heterozygosity for AVP Mutations.
Bourdet K et al.
Hormone Research in Paediatrics, 2016
A novel deletion partly removing the AVP gene causes autosomal recessive inheritance of early-onset neurohypophyseal diabetes insipidus.
Christensen JH et al.
Clinical Genetics, 2013
Autosomal recessive familial neurohypophyseal diabetes insipidus: onset in early infancy.
Abu Libdeh A et al.
European Journal of Endocrinology, 2010
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
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
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