Associated Papers
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Pathogenic signal peptide variants in the human genome.
Gutierrez Guarnizo SA et al.
Nar Genomics and Bioinformatics, 2023
Familial neurohypophyseal diabetes insipidus: clinical, genetic and functional studies of novel mutations in the arginine vasopressin gene.
Alvelos MI et al.
Pituitary, 2021
Familial central diabetes insipidus.
Bahíllo-Curieses MP et al.
Medicina Clinica, 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
The Novel Ser18del AVP Variant Causes Inherited Neurohypophyseal Diabetes Insipidus by Mechanisms Shared with Other Signal Peptide Variants.
Toustrup LB et al.
Neuroendocrinology, 2018
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
Two novel mutations in seven Czech and Slovak kindreds with familial neurohypophyseal diabetes insipidus-benefit of genetic testing.
Hrčková G et al.
European Journal of Pediatrics, 2016
Late-onset familial neurohypophyseal diabetes insipidus due to a novel mutation in the AVP gene.
Jendle J et al.
Clinical Endocrinology, 2012
Biological implications of SNPs in signal peptide domains of human proteins.
Jarjanazi H et al.
Proteins, 2008
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
A Rare Case of Familial Neurogenic Diabetes Insipidus in a 22-Year-Old Man.
Phan VTT et al.
Aace Clinical Case Reports, 0