{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T21:34:20Z","timestamp":1791149660762,"version":"4.1.0"},"reference-count":20,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2010,2,4]],"date-time":"2010-02-04T00:00:00Z","timestamp":1265241600000},"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":[[2010,7]]},"DOI":"10.1007\/s00467-010-1445-x","type":"journal-article","created":{"date-parts":[[2010,2,3]],"date-time":"2010-02-03T09:15:30Z","timestamp":1265188530000},"page":"1343-1348","source":"Crossref","is-referenced-by-count":36,"title":["Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion"],"prefix":"10.1007","volume":"25","author":[{"given":"Naoya","family":"Morisada","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nanna Dahl","family":"Rendtorff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kandai","family":"Nozu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takahiro","family":"Morishita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takayuki","family":"Miyakawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tohru","family":"Matsumoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satoshi","family":"Hisano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazumoto","family":"Iijima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisbeth","family":"Tranebj\u00e6rg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akira","family":"Shirahata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masafumi","family":"Matsuo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koichi","family":"Kusuhara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2010,2,4]]},"reference":[{"key":"1445_CR1","first-page":"121","volume":"11","author":"M Melnick","year":"1975","unstructured":"Melnick M, Bixler D, Silk K, Yune H, Nance WE (1975) Autosomal dominant branchiootorenal dysplasia. Birth Defects Orig Arctic Ser 11:121\u2013128","journal-title":"Birth Defects Orig Arctic Ser"},{"key":"1445_CR2","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1007\/s00467-006-0041-6","volume":"21","author":"M Okada","year":"2006","unstructured":"Okada M, Fujimaru R, Morimoto N, Satomura K, Kaku Y, Tsuzuki K, Nozu K, Okuyama T, Iijima K (2006) EYA1 and SIX1 gene mutations in Japanese patients with branchio-oto-renal (BOR) syndrome and related conditions. Pediatr Nephrol 21:475\u2013481","journal-title":"Pediatr Nephrol"},{"key":"1445_CR3","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1002\/ajmg.1320580413","volume":"58","author":"A Chen","year":"1995","unstructured":"Chen A, Francis M, Ni L, Cremers CW, Kimberling WJ, Sato Y, Phelps PD, Bellman SC, Wagner MJ, Pembrey M, Smith RJH (1995) Phenotypic manifestations of branchio-oto-renal syndrome. Am J Med Genet 58:365\u2013370","journal-title":"Am J Med Genet"},{"key":"1445_CR4","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1038\/ng0297-157","volume":"15","author":"S Abdelhak","year":"1997","unstructured":"Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, Weil D, Cruaud C, Sahly I, Leibovici M, Bitner-Glindzicz M, Francis M, Lacombe D, Vigneron J, Charachon R, Boven K, Bedbeder P, Van Regemorter N, Weissenbach J, Petit C (1997) A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nat Genet 15:157\u2013164","journal-title":"Nat Genet"},{"key":"1445_CR5","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1136\/jmg.40.7.515","volume":"40","author":"RG Ruf","year":"2003","unstructured":"Ruf RG, Berkman J, Wolf MTF, Nurunberg P, Gattas M, Ruf EM, Hyland V, Kromberg J, Glass I, Macmillan J, Otto E, Nurnberg G, Lucke B, Hennies HC, Hildebrandt F (2003) A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3. J Med Genet 40:515\u2013519","journal-title":"J Med Genet"},{"key":"1445_CR6","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1136\/jmg.37.6.458","volume":"37","author":"S Engels","year":"2000","unstructured":"Engels S, Kohlhase J, McGaughran J (2000) A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype. J Med Genet 37:458\u2013460","journal-title":"J Med Genet"},{"key":"1445_CR7","doi-asserted-by":"crossref","first-page":"800","DOI":"10.1086\/513322","volume":"80","author":"BE Hoskins","year":"2007","unstructured":"Hoskins BE, Cramer CH, Silvius D, Zou D, Raymond RM, Orten DJ, Kimberling WJ, Smith RJ, Weil D, Petit C, Otto EA, Xu PX, Hildebrandt F (2007) Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome. Am J Hum Genet 80:800\u2013804","journal-title":"Am J Hum Genet"},{"key":"1445_CR8","doi-asserted-by":"crossref","first-page":"1715","DOI":"10.1086\/302890","volume":"66","author":"S Kumar","year":"2000","unstructured":"Kumar S, Deffenbacher K, Marres HAM, Cremers CWRJ, Kimberling WJ (2000) Genomewide search and genetic localization of a second gene association with autosomal dominant branchio-oto-renal syndrome: clinical and genetic implications. Am J Hum Genet 66:1715\u20131720","journal-title":"Am J Hum Genet"},{"key":"1445_CR9","doi-asserted-by":"crossref","first-page":"e57","DOI":"10.1093\/nar\/gnf056","volume":"30","author":"JP Schouten","year":"2002","unstructured":"Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G (2002) Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 30:e57","journal-title":"Nucleic Acids Res"},{"key":"1445_CR10","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1002\/ajmg.a.32679","volume":"149A","author":"TL Stockley","year":"2009","unstructured":"Stockley TL, Mendoza-Londono R, Propst EJ, Sodhi S, Dupuis L, Papsin BC (2009) A recurrent EYA1 mutation causing alternative RNA splicing in branchio-oto-renal syndrome: implications for molecular diagnostics and disease mechanism. Am J Med Genet A 149A:322\u2013327","journal-title":"Am J Med Genet A"},{"key":"1445_CR11","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1002\/bies.20257","volume":"27","author":"JS Han","year":"2005","unstructured":"Han JS, Boeke JD (2005) LINE-1 retrotransposons: modulators of quantity and quality of mammalian gene expression? Bioessays 27:775\u2013784","journal-title":"Bioessays"},{"key":"1445_CR12","doi-asserted-by":"crossref","first-page":"1626","DOI":"10.1126\/science.1089670","volume":"303","author":"HH Kazazian Jr","year":"2004","unstructured":"Kazazian HH Jr (2004) Mobile elements: drivers of genome evolution. Science 303:1626\u20131632","journal-title":"Science"},{"key":"1445_CR13","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1007\/s00439-005-1321-0","volume":"117","author":"JM Chen","year":"2005","unstructured":"Chen JM, Stenson PD, Cooper DN, F\u00e9rec C (2005) A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease. Hum Genet 117:411\u2013427","journal-title":"Hum Genet"},{"key":"1445_CR14","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1542\/peds.58.2.259","volume":"58","author":"GJ Schwartz","year":"1976","unstructured":"Schwartz GJ, Haycock GB, Edelmann CM Jr, Spitzer A (1976) A simple estimate of glomerular filtration rate in children derived from body length and plasma creatinine. Pediatrics 58:258\u2013263","journal-title":"Pediatrics"},{"key":"1445_CR15","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1038\/12722","volume":"23","author":"PX Xu","year":"1999","unstructured":"Xu PX, Adams J, Peters H, Brown MC, Heaney S, Maas R (1999) Eya-1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia. Nat Genet 23:113\u2013117","journal-title":"Nat Genet"},{"key":"1445_CR16","doi-asserted-by":"crossref","first-page":"1121","DOI":"10.1038\/sj.ejhg.5201900","volume":"15","author":"KM Sanggaard","year":"2007","unstructured":"Sanggaard KM, Rendtorff ND, Kjaer KW, Eiberg H, Johnsen T, Gimsing S, Dyrmose J, Nielsen KO, Lage K, Tranebj\u00e6rg L (2007) Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses. Eur J Hum Genet 15:1121\u20131131","journal-title":"Eur J Hum Genet"},{"key":"1445_CR17","doi-asserted-by":"crossref","first-page":"582","DOI":"10.1002\/humu.20048","volume":"23","author":"EH Chang","year":"2004","unstructured":"Chang EH, Menezes M, Meyer NC, Cucci RA, Vervoort VS, Schwartz CE, Smith RJ (2004) Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences. Hum Mutat 23:582\u2013589","journal-title":"Hum Mutat"},{"key":"1445_CR18","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1038\/sj.ejhg.5200877","volume":"10","author":"VS Vervoort","year":"2002","unstructured":"Vervoort VS, Smith RJ, O'Brien J, Schroer R, Abbott A, Stevenson RE, Schwartz CE (2002) Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome. Eur J Hum Genet 10:757\u2013766","journal-title":"Eur J Hum Genet"},{"key":"1445_CR19","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1002\/humu.20691","volume":"29","author":"DJ Orten","year":"2008","unstructured":"Orten DJ, Fischer SM, Sorensen JL, Radhakrishna U, Cremens CWRJ, Marres HAM, Camp GV, Welch KO, Smith RJH, Kimberling WJ (2008) Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR. Hum Mutat 29:537\u2013544","journal-title":"Hum Mutat"},{"key":"1445_CR20","doi-asserted-by":"crossref","first-page":"2247","DOI":"10.1093\/hmg\/6.13.2247","volume":"6","author":"S Abdelhak","year":"1997","unstructured":"Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, Levi-Acobas F, Cruaud C, Merrer ML, Mathieu M, K\u00f6nig R, Vigneron J, Weissenbach J, Petit C, Weil D (1997) Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. Hum Mol Genet 6:2247\u20132255","journal-title":"Hum Mol Genet"}],"container-title":["Pediatric Nephrology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-010-1445-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00467-010-1445-x\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-010-1445-x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,29]],"date-time":"2023-05-29T22:42:39Z","timestamp":1685400159000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00467-010-1445-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,2,4]]},"references-count":20,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2010,7]]}},"alternative-id":["1445"],"URL":"https:\/\/doi.org\/10.1007\/s00467-010-1445-x","relation":{},"ISSN":["0931-041X","1432-198X"],"issn-type":[{"value":"0931-041X","type":"print"},{"value":"1432-198X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,2,4]]}}}