{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T16:14:02Z","timestamp":1786119242161,"version":"build-2736575974"},"reference-count":15,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2010,1]]},"DOI":"10.1097\/mcd.0b013e328333c20a","type":"journal-article","created":{"date-parts":[[2009,12,9]],"date-time":"2009-12-09T03:26:52Z","timestamp":1260329212000},"page":"35-37","source":"Crossref","is-referenced-by-count":7,"title":["Focal segmental glomerulosclerosis in a female patient with Donnai\u2013Barrow syndrome"],"prefix":"10.1097","volume":"19","author":[{"given":"Ihab Sakr","family":"Shaheen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Finlay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katrina","family":"Prescott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meaghan","family":"Russell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mauro","family":"Longoni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shelagh","family":"Joss","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-8-20211004","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1002\/ajmg.a.20266","article-title":"Donnai-Barrow syndrome: four additional patients","volume":"121A","author":"Chassaing","year":"2003","journal-title":"Am J Med Genet"},{"key":"R2-8-20211004","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1136\/jmg.35.1.70","article-title":"Proteinuria in a patient with the diaphragmatic hernia-hypertelorism-myopia-deafness syndrome: further evidence that facio-oculo-acoustic-renal syndrome represents the same entity","volume":"35","author":"Devriendt","year":"1998","journal-title":"J Med Genet"},{"key":"R3-8-20211004","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1007\/s004670050519","article-title":"Diagnostic value of urinary retinol \u2013 binding protein in childhood nephrotic syndrome","volume":"12","author":"Dillon","year":"1998","journal-title":"Pediatr Nephrol"},{"key":"R4-8-20211004","doi-asserted-by":"crossref","first-page":"679","DOI":"10.1002\/ajmg.1320470518","article-title":"Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia and sensorineural deafness: a newly recognised autosomal recessive disorder?","volume":"47","author":"Donnai","year":"1993","journal-title":"Am J Med Genet"},{"key":"R5-8-20211004","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1016\/j.ydbio.2006.06.007","article-title":"The role of megalin (LRP-2\/Gp330) during development","volume":"296","author":"Fisher","year":"2006","journal-title":"Dev Biol"},{"key":"R6-8-20211004","doi-asserted-by":"crossref","first-page":"F1270","DOI":"10.1152\/ajprenal.00164.2005","article-title":"Megalin binds and internalizes angiotensin-(1\u20137)","volume":"290","author":"Gonzalez-Villalobos","year":"2006","journal-title":"Am J Physiol Renal Physiol"},{"key":"R7-8-20211004","doi-asserted-by":"crossref","first-page":"1397","DOI":"10.1038\/ng1918","article-title":"Positional cloning uncovers mutations in PLCE1 responsible for nephrotic syndrome variant that may be reversible","volume":"38","author":"Hinkes","year":"2006","journal-title":"Nat Genet"},{"key":"R8-8-20211004","doi-asserted-by":"crossref","first-page":"957","DOI":"10.1038\/ng2063","article-title":"Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes","volume":"39","author":"Kantarci","year":"2007","journal-title":"Nat Genet"},{"key":"R9-8-20211004","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1146\/annurev.pathol.1.110304.100119","article-title":"Pathogenesis of non-immune glomerulopathies","volume":"1","author":"Kwoh","year":"2006","journal-title":"Annu Rev Pathol Mech Dis"},{"key":"R10-8-20211004","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1002\/bdra.20534","article-title":"A review of Donnai-Barrow and facio-oculo-acoustico-renal (DB\/FOAR) syndrome: clinical features and differential diagnosis","volume":"85","author":"Pober","year":"2009","journal-title":"Birth Defects Res A Clin Mol Teratol"},{"key":"R11-8-20211004","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1038\/ng1592","article-title":"RPC6 is a glomerular lit diaphragm-associated channel required for normal renal function","volume":"37","author":"Reiser","year":"2005","journal-title":"Nature Genetics"},{"key":"R12-8-20211004","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1172\/JCI0213961","article-title":"The LIM-homeodomain transcription factor Lmx1b plays a crucial role in podocytes","volume":"109","author":"Rohr","year":"2002","journal-title":"J Clin Invest"},{"key":"R13-8-20211004","doi-asserted-by":"crossref","first-page":"1205","DOI":"10.1681\/ASN.2004121080","article-title":"Molecular pathomechanisms of membranous nephropathy: from heymann nephritis to alloimmunization","volume":"16","author":"Ronco","year":"2005","journal-title":"J Am Soc Nephrol"},{"key":"R14-8-20211004","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1002\/(SICI)1096-8628(19970303)69:1<45::AID-AJMG9>3.0.CO;2-S","article-title":"Facio-oculo-acoustco-renal syndrome: case report and review","volume":"69","author":"Schowalter","year":"1997","journal-title":"Am J Med Genet"},{"key":"R15-8-20211004","doi-asserted-by":"crossref","first-page":"3694","DOI":"10.1681\/ASN.2005070706","article-title":"Mutational and biological analysis of \u03b1-actinin-4 in focal segmental glomerulosclerosis","volume":"16","author":"Weins","year":"2005","journal-title":"J Am Soc Nephrol"}],"container-title":["Clinical Dysmorphology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/00019605-201001000-00008","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,6]],"date-time":"2026-08-06T18:04:43Z","timestamp":1786039483000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/00019605-201001000-00008"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,1]]},"references-count":15,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2010]]}},"URL":"https:\/\/doi.org\/10.1097\/mcd.0b013e328333c20a","relation":{},"ISSN":["0962-8827"],"issn-type":[{"value":"0962-8827","type":"print"}],"subject":[],"published":{"date-parts":[[2010,1]]}}}