{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T06:33:43Z","timestamp":1648794823693},"reference-count":22,"publisher":"Elsevier BV","issue":"11","license":[{"start":{"date-parts":[[2011,11,1]],"date-time":"2011-11-01T00:00:00Z","timestamp":1320105600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Archives de P\u00e9diatrie"],"published-print":{"date-parts":[[2011,11]]},"DOI":"10.1016\/j.arcped.2011.08.002","type":"journal-article","created":{"date-parts":[[2011,9,8]],"date-time":"2011-09-08T17:41:22Z","timestamp":1315503682000},"page":"1127-1129","source":"Crossref","is-referenced-by-count":1,"title":["Le syndrome de Pierson, Michel Pierson"],"prefix":"10.1016","volume":"18","author":[{"given":"P.","family":"Cochat","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Zenker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"1","key":"10.1016\/j.arcped.2011.08.002_bib0005","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1111\/j.1365-2249.2011.04357.x","article-title":"Nomenclature and classification of vasculitis: lessons learned from granulomatosis with polyangiitis (Wegener granulomatosis)","volume":"174","author":"Jennette","year":"2011","journal-title":"Clin Exp Immunol"},{"key":"10.1016\/j.arcped.2011.08.002_bib0010","series-title":"N\u00e9phrologie p\u00e9diatrique","article-title":"Autres maladies du cil primitif","author":"Weber","year":"2011"},{"key":"10.1016\/j.arcped.2011.08.002_bib0015","series-title":"N\u00e9phrologie p\u00e9diatrique","article-title":"La n\u00e9phronophtise et les maladies apparent\u00e9es","author":"Salomon","year":"2011"},{"key":"10.1016\/j.arcped.2011.08.002_bib0020","doi-asserted-by":"crossref","first-page":"2625","DOI":"10.1093\/hmg\/ddh284","article-title":"Human laminin beta-2\u00a0deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities","volume":"13","author":"Zenker","year":"2004","journal-title":"Hum Molec Genet"},{"issue":"130A","key":"10.1016\/j.arcped.2011.08.002_bib0025","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1002\/ajmg.a.30310","article-title":"Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: an autosomal recessive syndrome","volume":"PartA","author":"Zenker","year":"2004","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.arcped.2011.08.002_bib0030","first-page":"184","article-title":"An unusual congenital and familial malformative combination involving the eye and kidney","volume":"12","author":"Pierson","year":"1963","journal-title":"J Genet Hum"},{"key":"10.1016\/j.arcped.2011.08.002_bib0035","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1007\/BF00862514","article-title":"Familial infantile nephrotic syndrome with ocular abnormalities","volume":"4","author":"Glastre","year":"1990","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.arcped.2011.08.002_bib0040","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1016\/j.ajo.2008.05.039","article-title":"Ophthalmological aspects of Pierson syndrome","volume":"146","author":"Bredrup","year":"2008","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/j.arcped.2011.08.002_bib0045","doi-asserted-by":"crossref","first-page":"1008","DOI":"10.1038\/sj.ki.5001679","article-title":"Recessive missense mutations in LAMB2\u00a0expand the clinical spectrum of LAMB2-associated disorders","volume":"70","author":"Hasselbacher","year":"2006","journal-title":"Kidney Int"},{"key":"10.1016\/j.arcped.2011.08.002_bib0050","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1007\/s00467-007-0624-x","article-title":"A milder variant of Pierson syndrome","volume":"23","author":"Kagan","year":"2008","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.arcped.2011.08.002_bib0055","doi-asserted-by":"crossref","first-page":"3283","DOI":"10.1093\/ndt\/gfl463","article-title":"A syndrome comprising childhood-onset glomerular kidney disease and ocular abnormalities with progressive loss of vision is caused by mutated LAMB2","volume":"21","author":"Matejas","year":"2006","journal-title":"Nephrol Dial Transplant"},{"key":"10.1016\/j.arcped.2011.08.002_bib0060","doi-asserted-by":"crossref","first-page":"1137","DOI":"10.1016\/j.ophtha.2010.10.009","article-title":"A novel mutation of LAMB2\u00a0in a multigenerational Mennonite family reveals a nex phenotypic variant of Pierson syndrome","volume":"118","author":"Mohney","year":"2011","journal-title":"Ophthalmology"},{"key":"10.1016\/j.arcped.2011.08.002_bib0065","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1002\/pd.1393","article-title":"Prenatal findings in four consecutive pregnancies with fetal Pierson syndrome, a newly defined congenital nephrosis syndrome","volume":"26","author":"Mark","year":"2006","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.arcped.2011.08.002_bib0070","doi-asserted-by":"crossref","first-page":"c9","DOI":"10.1159\/000320876","article-title":"Genetic disorders of glomerular basement membranes","volume":"118","author":"Kashtan","year":"2011","journal-title":"Nephron Clin Pract"},{"issue":"143A","key":"10.1016\/j.arcped.2011.08.002_bib0075","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1002\/ajmg.a.31564","article-title":"Neurodevelopmental deficits in Pierson (microcoria-congenital nephrosis) syndrome","volume":"PartA","author":"W\u00fchl","year":"2007","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.arcped.2011.08.002_bib0080","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1002\/cne.903230208","article-title":"Expression of s-laminin and laminin in the developing rat central nervous system","volume":"323","author":"Hunter","year":"1992","journal-title":"J Comp Neurol"},{"key":"10.1016\/j.arcped.2011.08.002_bib0085","doi-asserted-by":"crossref","first-page":"1779","DOI":"10.1007\/s00467-008-0880-4","article-title":"Analysis of genes encoding laminin beta2\u00a0and related proteins in patients with Galloway-Mowat syndrome","volume":"23","author":"Dietrich","year":"2008","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.arcped.2011.08.002_bib0090","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1038\/ncpneph0671","article-title":"Inherited diseases of the glomerular basement membrane","volume":"4","author":"Gubler","year":"2008","journal-title":"Nat Clin Pract Nephrol"},{"key":"10.1016\/j.arcped.2011.08.002_bib0095","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1038\/374258a0","article-title":"Aberrant differenciation of neuromuscular junctionsin mice lacking s-laminin\/liminin beta 2","volume":"374","author":"Noakes","year":"1995","journal-title":"Nature"},{"key":"10.1016\/j.arcped.2011.08.002_bib0100","doi-asserted-by":"crossref","first-page":"992","DOI":"10.1002\/humu.21304","article-title":"Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum","volume":"31","author":"Matejas","year":"2010","journal-title":"Hum Mutat"},{"key":"10.1016\/j.arcped.2011.08.002_bib0105","doi-asserted-by":"crossref","first-page":"995","DOI":"10.1007\/s00467-008-0748-7","article-title":"Variable phenotype of Pierson syndrome","volume":"23","author":"Choi","year":"2008","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.arcped.2011.08.002_bib0110","doi-asserted-by":"crossref","first-page":"976","DOI":"10.1016\/S0022-3476(79)80286-3","article-title":"A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction","volume":"95","author":"Pearson","year":"1979","journal-title":"J Pediatr"}],"container-title":["Archives de P\u00e9diatrie"],"original-title":[],"language":"fr","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0929693X11003320?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0929693X11003320?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,11,30]],"date-time":"2018-11-30T06:50:01Z","timestamp":1543560601000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0929693X11003320"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,11]]},"references-count":22,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2011,11]]}},"alternative-id":["S0929693X11003320"],"URL":"https:\/\/doi.org\/10.1016\/j.arcped.2011.08.002","relation":{},"ISSN":["0929-693X"],"issn-type":[{"value":"0929-693X","type":"print"}],"subject":[],"published":{"date-parts":[[2011,11]]}}}