{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,6]],"date-time":"2026-06-06T12:39:15Z","timestamp":1780749555937,"version":"3.54.1"},"reference-count":0,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2014,2,6]],"date-time":"2014-02-06T00:00:00Z","timestamp":1391644800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,6]]},"abstract":"<jats:sec><jats:label\/><jats:p>Cornelia de Lange syndrome (CdLS) is the prototype for the cohesinopathy disorders that have mutations in genes associated with the cohesin subunit in all cells. Roberts syndrome is the next most common cohesinopathy. In addition to the developmental implications of cohesin biology, there is much translational and basic research, with progress towards potential treatment for these conditions. Clinically, there are many issues in CdLS faced by the individual, parents and caretakers, professionals, and schools. The following abstracts are presentations from the 5th Cornelia de Lange Syndrome Scientific and Educational Symposium on June 20\u201321, 2012, in conjunction with the Cornelia de Lange Syndrome Foundation National Meeting, Lincolnshire, IL. The research committee of the CdLS Foundation organizes the meeting, reviews and accepts abstracts and subsequently disseminates the information to the families. In addition to the basic science and clinical discussions, there were educationally\u2010focused talks related to practical aspects of management at home and in school. AMA CME credits were provided by Greater Baltimore Medical Center, Baltimore, MD. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36417","type":"journal-article","created":{"date-parts":[[2014,2,6]],"date-time":"2014-02-06T19:56:38Z","timestamp":1391716598000},"page":"1384-1393","source":"Crossref","is-referenced-by-count":9,"title":["Cornelia de Lange syndrome: Further delineation of phenotype, cohesin biology and educational focus, 5th Biennial Scientific and Educational Symposium abstracts"],"prefix":"10.1002","volume":"164","author":[{"given":"Antonie D.","family":"Kline","sequence":"first","affiliation":[{"name":"Harvey Institute for Human Genetics Greater Baltimore Medical Center Baltimore Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne L.","family":"Calof","sequence":"additional","affiliation":[{"name":"Department of Anatomy and Neurobiology Developmental and Cell Biology, Center for Complex Biological Systems Irvine California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheri A.","family":"Schaaf","sequence":"additional","affiliation":[{"name":"Edward A. 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Doisy Department of Biochemistry and Molecular Biology Saint Louis University School of Medicine Saint Louis Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheri S.","family":"Carrico","sequence":"additional","affiliation":[{"name":"Speech Language Pathology Elmhurst College Elmhurst Illinois"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Woodman","sequence":"additional","affiliation":[{"name":"Biochemistry and Molecular Genetics University of Colorado School of Medicine Denver Colorado"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer L.","family":"Gerton","sequence":"additional","affiliation":[{"name":"Stowers Institute for Medical Research Kansas City Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hugo","family":"Vega","sequence":"additional","affiliation":[{"name":"Department of Molecular and Cellular Biology Warren Alpert Medical School of Brown University Providence Rhode Island"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alex V.","family":"Levin","sequence":"additional","affiliation":[{"name":"Pediatric Ophthalmology and Ocular Genetics Wills Eye Institute, Jefferson Medical College Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katsuhiko","family":"Shirahige","sequence":"additional","affiliation":[{"name":"Tokyo Institute of Technology Graduate School of Bioscience and Biotechnology Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michele","family":"Champion","sequence":"additional","affiliation":[{"name":"Special Education State of Massachusetts Lawrence Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjorie T.","family":"Goodban","sequence":"additional","affiliation":[{"name":"Speech Language Pathology Elmhurst College Elmhurst Illinois"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia T.","family":"O'Connor","sequence":"additional","affiliation":[{"name":"Department of Psychiatry and Behavioral Sciences Kennedy Krieger Institute Baltimore Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary","family":"Pipan","sequence":"additional","affiliation":[{"name":"Child Development The Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Horsfield","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Otago, Dunedin School of Medicine Dunedin New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew A.","family":"Deardorff","sequence":"additional","affiliation":[{"name":"Division of Human Genetics The Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stacey L.","family":"Ishman","sequence":"additional","affiliation":[{"name":"Division of Pediatric Otolaryngology Johns Hopkins University School of Medicine Baltimore Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dale","family":"Dorsett","sequence":"additional","affiliation":[{"name":"Edward A. Doisy Department of Biochemistry and Molecular Biology Saint Louis University School of Medicine Saint Louis Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,2,6]]},"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36417","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36417","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T21:34:51Z","timestamp":1696628091000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36417"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,2,6]]},"references-count":0,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2014,6]]}},"alternative-id":["10.1002\/ajmg.a.36417"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36417","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,2,6]]}}}