{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T13:14:23Z","timestamp":1760188463221},"reference-count":23,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[1993,10,1]],"date-time":"1993-10-01T00:00:00Z","timestamp":749433600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatr Nephrol"],"published-print":{"date-parts":[[1993,10]]},"DOI":"10.1007\/bf00852579","type":"journal-article","created":{"date-parts":[[2004,12,24]],"date-time":"2004-12-24T04:39:46Z","timestamp":1103863186000},"page":"685-688","source":"Crossref","is-referenced-by-count":18,"title":["Nephrogenic diabetes insipidus: identification of the genetic defect"],"prefix":"10.1007","volume":"7","author":[{"given":"N.","family":"Knoers","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. v. d.","family":"Ouweland","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Dreesen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Verdijk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L. A. H.","family":"Monnens","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B. A. v.","family":"Oost","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"CR1","first-page":"3","volume":"159","author":"H Forssman","year":"1945","unstructured":"Forssman H (1945) On hereditary diabetes insipidus with special regard to a sex linked form. Acta Med Scand 159: 3?196","journal-title":"Acta Med Scand"},{"key":"CR2","first-page":"323","volume":"69","author":"AJ Waring","year":"1945","unstructured":"Waring AJ, Kajdi L, Tappan V (1945) A congenital defect of water metabolism. Am J Dis Child 69: 323?324","journal-title":"Am J Dis Child"},{"key":"CR3","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1007\/BF00874020","volume":"6","author":"N Knoers","year":"1992","unstructured":"Knoers N, Monnens LAH (1992) Nephrogenic diabetes insipidus: clinical symptoms, pathogenesis, genetics and treatment. Pediatr Nephrol 6: 476?482","journal-title":"Pediatr Nephrol"},{"key":"CR4","first-page":"164","volume":"99","author":"MG Robinson","year":"1960","unstructured":"Robinson MG, Kaplan SA (1960) Inheritance of vasopressin-resistant (?nephrogenic?) diabetes insipidus. Am J Dis Child 99: 164?174","journal-title":"Am J Dis Child"},{"key":"CR5","doi-asserted-by":"crossref","first-page":"906","DOI":"10.1136\/adc.53.11.UNKNOWN","volume":"53","author":"RL Schreiner","year":"1978","unstructured":"Schreiner RL, Skafish PR, Anand SK, Northway JD (1978) Congenital nephrogenic diabetes insipidus in a baby girl. Arch Dis Child 53: 906?915","journal-title":"Arch Dis Child"},{"key":"CR6","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1002\/ajmg.1320380120","volume":"38","author":"JM Langley","year":"1991","unstructured":"Langley JM, Balfe JW, Selander T, Ray PN, Clarke JTR (1991) Autosomal recessive inheritance of vasopressin-resistant diabetes insipidus. Am J Med Genet 38: 90?94","journal-title":"Am J Med Genet"},{"key":"CR7","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1007\/BF01955943","volume":"150","author":"N Knoers","year":"1991","unstructured":"Knoers N, Monnens LAH (1991) A variant of nephrogenic diabetes insipidus: V2 receptor abnormality restricted to the kidney. Eur J Pediatr 150: 370?373","journal-title":"Eur J Pediatr"},{"key":"CR8","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1159\/000185155","volume":"50","author":"N Knoers","year":"1988","unstructured":"Knoers N, Heyden H van der, Oost BA van, Monnens L, Willems J, Ropers HH (1988) Linkage of X-linked nephrogenic diabetes insipidus with DXS52, a polymorphic DNA marker. Nephron 50: 187?190","journal-title":"Nephron"},{"key":"CR9","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1007\/BF00451451","volume":"80","author":"N Knoers","year":"1988","unstructured":"Knoers N, Heyden H van der, Oost BA van, Ropers HH, Monnens L, Willems J (1988) Nephrogenic diabetes insipidus: close linkage with markers from the distal long arm of the human X chromosome. Hum Genet 80: 31?38","journal-title":"Hum Genet"},{"key":"CR10","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1016\/0888-7543(89)90352-2","volume":"4","author":"N Knoers","year":"1989","unstructured":"Knoers N, Heyden H van der, Oost BA van, Monnens L, Willems J, Ropers HH (1989) Three-point linkage analysis using multiple DNA polymorphic markers in families with X-linked nephrogenic diabetes insipidus. Genomics 4: 434?437","journal-title":"Genomics"},{"key":"CR11","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1042\/bst0070861","volume":"7","author":"RH Michell","year":"1979","unstructured":"Michell RH, Kirk CJ, Billah MM (1979) Hormonal stimulation of phosphatidylinositol breakdown, with particular reference to the hepatic effects of vasopressin. Biochem Soc Trans 7: 861?865","journal-title":"Biochem Soc Trans"},{"key":"CR12","first-page":"477A","volume":"27","author":"JG Anderson","year":"1979","unstructured":"Anderson JG, Notmann DD, Springer J (1979) Studies in nephrogenic diabetes insipidus. Clin Res 27: 477A","journal-title":"Clin Res"},{"key":"CR13","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1038\/ki.1991.83","volume":"39","author":"DG Bichet","year":"1991","unstructured":"Bichet DG, Arthus M-F, Lonergan M (1991) Platelet vasopressin receptors in patients with congenital nephrogenic diabetes insipidus. Kidney Int 39: 693?699","journal-title":"Kidney Int"},{"key":"CR14","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1007\/BF02113263","volume":"151","author":"N Knoers","year":"1992","unstructured":"Knoers N, Janssens PMW, Goertz J, Monnens LAH (1992) Evidence for intact V1-vasopressin receptors in congenital nephrogenic diabetes insipidus. Eur J Pediatr 151: 381?383","journal-title":"Eur J Pediatr"},{"key":"CR15","doi-asserted-by":"crossref","first-page":"881","DOI":"10.1056\/NEJM198804073181403","volume":"318","author":"DG Bichet","year":"1988","unstructured":"Bichet DG, Razi M, Lonergan M, Arthus M-F, Papukna V, Kortas C, Barjon J-N (1988) Hemodynamic and coagulation responses to 1-desamino [8-D-arginine] vasopressin in patients with congenital nephrogenic diabetes insipidus. N Engl J Med 318: 881?887","journal-title":"N Engl J Med"},{"key":"CR16","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1159\/000185888","volume":"54","author":"N Knoers","year":"1990","unstructured":"Knoers N, Brommer EJP, Willems H, Oost BA van, Monnens LAH (1990) Fibrinolytic responses to 1-desamino-8-d-arginine vasopressin in patients with congenital nephrogenic diabetes insipidus. Nephron 54: 322?326","journal-title":"Nephron"},{"key":"CR17","doi-asserted-by":"crossref","first-page":"15379","DOI":"10.1016\/S0021-9258(18)55406-5","volume":"265","author":"DA Jans","year":"1990","unstructured":"Jans DA, Oost BA van, Ropers HH, Fahrenholz F (1990) Derivatives of somatic cell hybrids which carry the gene locus for nephrogenic diabetes insipidus (NDI) express functional vasopressin renal V2-type receptors. J Biol Chem 265: 15379?15386","journal-title":"J Biol Chem"},{"key":"CR18","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1038\/357333a0","volume":"357","author":"M Birnbaumer","year":"1992","unstructured":"Birnbaumer M, Seibold A, Gilbert S, Ishido M, Barberis C, Antaramian A, Brabet P, Rosenthal W (1992) Molecular cloning of the receptor for human antidiuretic hormone. Nature 357: 333?335","journal-title":"Nature"},{"key":"CR19","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1038\/357336a0","volume":"357","author":"SJ Lolait","year":"1992","unstructured":"Lolait SJ, O'Carroll A-M, McBride OW, Konig M, Morel A, Brownstein MJ (1992) Cloning and characterization of a vasopressin V2 receptor and possible link to nephrogenic diabetes insipidus. Nature 357: 336?339","journal-title":"Nature"},{"key":"CR20","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1038\/ng1092-99","volume":"2","author":"AMW Ouweland van den","year":"1992","unstructured":"Ouweland AMW van den, Dreesen JCFM, Verdijk M, Knoers NVAM, Monnens LAH, Rocchi M, Oost BA van (1992) Mutations in the vasopressin type 2 receptor gene (AVPR2) are associated with nephrogenic diabetes insipidus. Nature Genet 2: 99?102","journal-title":"Nature Genet"},{"key":"CR21","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1038\/357279a0","volume":"357","author":"M Sharif","year":"1992","unstructured":"Sharif M, Hanley MR (1992) Stepping up the pressure. Nature 357: 279?280","journal-title":"Nature"},{"key":"CR22","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1038\/359233a0","volume":"359","author":"W Rosenthal","year":"1992","unstructured":"Rosenthal W, Seibold A, Antaramian A, Lonergan M, Arthus M-F, Hendy GN, Birnbaumer M, Bichet DG (1992) Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus. Nature 359: 233?235","journal-title":"Nature"},{"key":"CR23","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1038\/ng1092-103","volume":"2","author":"Y Pan","year":"1992","unstructured":"Pan Y, Metzenberg A, Das S, Jing B, Gitschier J (1992) Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus. Nature Genet 2: 103?106","journal-title":"Nature Genet"}],"container-title":["Pediatric Nephrology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00852579.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/BF00852579\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00852579","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,7,2]],"date-time":"2021-07-02T09:21:37Z","timestamp":1625217697000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/BF00852579"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,10]]},"references-count":23,"journal-issue":{"issue":"5","published-print":{"date-parts":[[1993,10]]}},"alternative-id":["BF00852579"],"URL":"https:\/\/doi.org\/10.1007\/bf00852579","relation":{},"ISSN":["0931-041X","1432-198X"],"issn-type":[{"value":"0931-041X","type":"print"},{"value":"1432-198X","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,10]]}}}