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| Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a mutation in the arginine-vasopressin II gene in four generations of a Korean family | |
| Myo-Jing Kim, Young-Eun Kim, Chang-Seok Ki, Jae-Ho Yoo | |
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Ann Pediatr Endocrinol Metab. 2014;19(4):220-224. Published online December 31, 2014 DOI: https://doi.org/10.6065/apem.2014.19.4.220 |
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Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a mutation in the arginine-vasopressin II gene in four generations of a Korean family Annals of Pediatric Endocrinology & Metabolism. 2014;19(4):220  A missense mutation in the arginine-vasopressin neurophysin-II gene causes autosomal dominant neurohypophyseal diabetes insipidus in a Chinese family Clinical Endocrinology. 2013;78(6):920-925 Progressive decline of vasopressin secretion in familial autosomal dominant neurohypophyseal diabetes insipidus presenting a novel mutation in the vasopressin-neurophysin II gene Clinical Endocrinology. 2003;59(4):511-518 Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel missense mutation in AVP gene in a large Italian kindred Endocrine. 2021;74(1):188-192 A novel splice site mutation of the arginine vasopressin–neurophysin II gene identified in a kindred with autosomal dominant familial neurohypophyseal diabetes insipidus Molecular Genetics and Metabolism. 2005;86(1-2):307-313 A Novel Arginine Vasopressin-Neurophysin II Mutation Causes Autosomal Dominant Neurohypophyseal Diabetes insipidus and Morphologic Pituitary Changes Hormone Research in Paediatrics. 2000;53(5):239-245 Clinical and molecular analysis of a Chinese family with autosomal dominant neurohypophyseal diabetes insipidus associated with a novel missense mutation in the vasopressin–neurophysin II gene Endocrine. 2012;42(1):208-213 A missense mutation in the vasopressin-neurophysin precursor gene cosegregates with human autosomal dominant neurohypophyseal diabetes insipidus. The EMBO Journal. 1992;11(1):19-23 Six novel mutations in the arginine vasopressin gene in 15 kindreds with autosomal dominant familial neurohypophyseal diabetes insipidus give further insight into the pathogenesis European Journal of Human Genetics. 2003;12(1):44-51 Expression of three different mutations in the arginine vasopressin gene suggests genotype-phenotype correlation in familial neurohypophyseal diabetes insipidus kindreds. (Genotype-phenotype correlation in familial neurohypophyseal diabetes insipidus) Clinical Endocrinology. 2005;63(2):207-216 |
