Associated Papers
Pathogenic signal peptide variants in the human genome.
Gutierrez Guarnizo SA et al.
Nar Genomics and Bioinformatics, 2023
37859801 (PubMed )
Supplement: lqad093_supplemental_files.zip › SupplementaryFileS4.xlsx › C-region
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
Letter to the Editor: "Forty-One Individuals With Mutations in the AVP-NPII Gene Associated With Familial Neurohypophyseal Diabetes Insipidus."
Patti G et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Familial neurohypophyseal diabetes insipidus in 13 kindreds and 2 novel mutations in the vasopressin gene.
Patti G et al.
European Journal of Endocrinology, 2019
Late-onset familial neurohypophyseal diabetes insipidus due to a novel mutation in the AVP gene.
Jendle J et al.
Clinical Endocrinology, 2012
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 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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