{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T11:56:10Z","timestamp":1772366170241,"version":"3.50.1"},"reference-count":23,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":3501,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1995,11,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Congenital obstructive anomalies of the urinary tract usually occur sporadically. We describe inheritance in a three\u2010generation kindred of a spectrum of kidney anomalies consistent with an autosomal\u2010dominant mode of transmission, with incomplete penetrance, calyectasis (maternal grand\u2010mother), infundibulopelvic stenosis (uncle), and multicystic kidney (male proband, age 4 years). The proband's mother, father and half sister had normal renal imaging studies. Inheritance of informative polymorphic markers (3\u2032\u2010HVR, GGG1, GGG9, SM\u20107, KG8, and CW3) mapping close to the adult polycystic kidney disease type 1 (PKD\u20101) and tuberous sclerosis (TSC\u20102) loci on chromosome 16p was evaluated by Southern blot studies and by PCR\u2010based, fluorescent geno\u2010typing for linkage to phenotype. The 3 affected individuals, as well as the unaffected mother (obligate carrier) and unaffected half\u2010sister, inherit a common chromosome haplotype linked to the PKD1 locus. Our findings support the hypothesis that these anomalies may be part of a spectrum of obstructive renal dysplasia which are inherited as a simple Mendelian trait exhibiting an autosomal\u2010dominant mode of transmission with variable expression and incomplete penetrance. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320590219","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:12:23Z","timestamp":1118513543000},"page":"218-224","source":"Crossref","is-referenced-by-count":6,"title":["Infundibulopelvic stenosis, multicystic kidney, and calyectasis in a kindred: Clinical observations and genetic analysis"],"prefix":"10.1002","volume":"59","author":[{"given":"Megumi","family":"Kobayashi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bernard S.","family":"Kaplan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard D.","family":"Bellah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Sartore","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eric","family":"Rappaport","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark W.","family":"Steele","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elaine","family":"Mansfield","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paolo","family":"Gasparini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saul","family":"Surrey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paolo","family":"Fortina","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"6","article-title":"Synthesis of fluorescent dye\u2010labeled oligonucleotides for use as primers in fluorescent\u2010based DNA sequencing","volume":"11","author":"Applied Biosystems, Inc.","year":"1991","journal-title":"ABI User Bulletin"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0272-6386(12)80119-3"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0076-6879(87)54081-2"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1021\/bi00550a008"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90618-Z"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90137-6"},{"key":"e_1_2_1_8_1","first-page":"925","article-title":"Identification of a locus which shows no genetic recombination with the autosomal dominant polycystic kidney disease gene on chromosome 16","volume":"46","author":"Germino GG","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(91)92300-Q"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0992-37"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(89)80735-8"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5347(17)55107-1"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0888-7543(11)80001-7"},{"key":"e_1_2_1_14_1","first-page":"498","article-title":"Efficient computations in multilocus linkage analysis","volume":"42","author":"Lathrop GM","year":"1988","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.82.18.6206"},{"key":"e_1_2_1_16_1","first-page":"471","article-title":"Infundibulopelvic stenosis in children","volume":"142","author":"Lucaya J","year":"1984","journal-title":"Am J Radiol"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/13.21.7569"},{"key":"e_1_2_1_18_1","first-page":"899","article-title":"Evidence of linkage disequilibrium in the Spanish polycystic kidney disease 1 population","volume":"54","author":"Peral B","year":"1994","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1293-359"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/317542a0"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(92)90215-E"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2836(75)80083-0"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320280532"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/0090-4295(90)80158-J"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320590219","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320590219","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,27]],"date-time":"2023-10-27T02:32:06Z","timestamp":1698373926000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320590219"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,11,6]]},"references-count":23,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1995,11,6]]}},"alternative-id":["10.1002\/ajmg.1320590219"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320590219","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,11,6]]}}}