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Bockenhauer,                D, Bichet,                DG.            Pathophysiology, diagnosis and management of nephrogenic diabetes            insipidus. Nat Rev Nephrol          2015;11: 576\u201388.","DOI":"10.1038\/nrneph.2015.89"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Babey,              M, Kopp,                P,                Robertson,              GL. Familial            forms of diabetes insipidus: clinical and molecular characteristics.            Nat Rev Endocrinol          2011;7: 701\u201314.","DOI":"10.1038\/nrendo.2011.100"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Bichet,              DG. GENETICS IN            ENDOCRINOLOGY Pathophysiology, diagnosis and treatment of familial nephrogenic diabetes            insipidus. Eur J Endocrinol          2020;183: R29\u201340.","DOI":"10.1530\/EJE-20-0114"},{"key":"4","doi-asserted-by":"publisher","unstructured":"4. Neocleous,                V, Skordis,                N, Shammas,                C,                Efstathiou,              E,                Mastroyiannopoulos,              NP,              Phylactou,            LA.            Identification and characterization of a novel X-linked              <i>AVPR2<\/i> mutation causing partial nephrogenic diabetes insipidus: a case            report and review of the literature. Metabolism          2012;61: 922\u201330.","DOI":"10.1016\/j.metabol.2012.01.005"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Mori,              T, Hosomichi,                K, Chiga,                M, Mandai,                S, Nakaoka,                H, Sohara,                E, et al.            Comprehensive genetic testing approach for major inherited kidney            diseases, using next-generation sequencing with a custom panel.            Clin Exp Nephrol          2017;21: 63\u201375.","DOI":"10.1007\/s10157-016-1252-1"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Richards,                S, Aziz,                N, Bale,                S, Bick,                D, Das,                S,                Gastier-Foster,              J, et al.            ACMG Laboratory Quality Assurance Committee.            Standards and guidelines for the interpretation of sequence variants: a            joint consensus recommendation of the American College of Medical Genetics and Genomics            and the Association for Molecular Pathology. Genet Med          2015;17: 405\u201324.","DOI":"10.1038\/gim.2015.30"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Morales,              A,                Hershberger,              RE. Variants of            uncertain significance: Should we revisit how they are evaluated and            disclosed?Circ Genom Precis Med          2018;11: e002169.","DOI":"10.1161\/CIRCGEN.118.002169"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Robben,              JH, Knoers,                NVAM, Deen,                PMT.            Characterization of vasopressin V2 receptor mutants in nephrogenic            diabetes insipidus in a polarized cell model. Am J Physiol Renal            Physiol          2005;289: F265\u201372.","DOI":"10.1152\/ajprenal.00404.2004"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Jankowski,                M,                Danalache,              BA, Plante,                E,              Menaouar, A,                Florian, M,                Tan, JJ,              et al. Dissociation of natriuresis and            diuresis by oxytocin molecular forms in rats. PLoS One          2019;14: e0219205.","DOI":"10.1371\/journal.pone.0219205"},{"key":"10","unstructured":"10. Fujimoto,                M, Okada,                S,                Kawashima,              Y, Nishimura,                R,              Miyahara, N,                Kawaba, Y,              et al. Clinical overview of nephrogenic            diabetes insipidus based on a nationwide survey in Japan. Yonago            Acta Med          2014;57: 85\u201391."},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Yamashita,                S, Hata,                A, Usui,                T, Oda,                H,              Hijikata, A,                Shirai, T,              et al. Novel <i>AVPR2<\/i>            mutation causing partial nephrogenic diabetes insipidus in a Japanese            family. J Pediatr Endocrinol Metab          2016;29: 591\u20136.","DOI":"10.1515\/jpem-2015-0323"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Schernthaner-Reiter,                MH, Adams,                D,                Trivellin,              G, Ramnitz,                MS,              Raygada, M,                Golas, G,              et al. A novel <i>AVPR2<\/i>            splice site mutation leads to partial X-linked nephrogenic diabetes insipidus in two            brothers. Eur J Pediatr          2016;175: 727\u201333.","DOI":"10.1007\/s00431-015-2684-4"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Makita,              N, Sato,                T,                Yajima-Shoji,              Y, Sato,                J, Manaka,                K,                Eda-Hashimoto,              M, et al.            Analysis of the V2 vasopressin receptor (V2R) mutations causing partial            nephrogenic diabetes insipidus highlights a sustainable signaling by a non-peptide V2R            agonist. J Biol Chem          2016;291: 22460\u201371.","DOI":"10.1074\/jbc.M116.733220"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Joshi,              S,              Kvistgaard,            H, Kamperis,                K, F\u00e6rch,                M,              Hagstr\u00f8m, S,                Gregersen,              N, et al.            Novel and recurrent variants in AVPR2 in 19 families with X-linked            congenital nephrogenic diabetes insipidus. Eur J            Pediatr          2018;177: 1399\u2013405.","DOI":"10.1007\/s00431-018-3132-z"},{"key":"15","unstructured":"15. Bichet,              DG,                Birnbaumer,              M, Lonergan,                M, Arthus,                MF,                Rosenthal,              W, Goodyer,                P, et al.            Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes            insipidus. Am J Hum Genet          1994;55: 278\u201386."},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Bockenhauer,                D,                Carpentier,              E, Rochdi,                D, van\u2019t                Hoff, W,                Breton, B,                Bernier, V,              et al. Vasopressin type 2 receptor V88M            mutation: molecular basis of partial and complete nephrogenic diabetes            insipidus. Nephron, Physiol          2010;114: 1\u201310.","DOI":"10.1159\/000245059"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Sasaki,              S, Chiga,                M, Kikuchi,                E, Rai,                T, Uchida,                S. Hereditary            nephrogenic diabetes insipidus in Japanese patients: analysis of 78 families and report            of 22 new mutations in <i>AVPR2<\/i> and <i>AQP2<\/i>.            Clin Exp Nephrol          2013;17: 338\u201344.","DOI":"10.1007\/s10157-012-0726-z"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18. Ding,              C, Beetz,                R, Rittner,                G, Bartsch,                O. A female            with X-linked Nephrogenic diabetes insipidus in a family with inherited central diabetes            Insipidus: Case report and review of the literature. Am J Med            Genet A          2020;182: 1032\u201340.","DOI":"10.1002\/ajmg.a.61516"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19. Hasegawa,                Y. The            relationship between antidiuretic hormone and plasma or urine osmolalities during water            restriction test and hypertonic saline loading test in normal children--a change in the            apparent tubular response to AVP during these two tests.            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