title: Cornelia de Lange syndrome: further delineation of phenotype, cohesin biology and educational focus, 5th Biennial Scientific and Educational Symposium abstracts.
abstract: 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 20-21, 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-focused talks related to practical aspects of management at home and in school. AMA CME credits were provided by Greater Baltimore Medical Center, Baltimore, MD.
authors: Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, Maryland.
authors: Antonie D
authors: AD
authors: Kline
authors: Anne L
authors: AL
authors: Calof
authors: Cheri A
authors: CA
authors: Schaaf
authors: Ian D
authors: ID
authors: Krantz
authors: Soma
authors: S
authors: Jyonouchi
authors: Kyoko
authors: K
authors: Yokomori
authors: Maria
authors: M
authors: Gauze
authors: Cheri S
authors: CS
authors: Carrico
authors: Julie
authors: J
authors: Woodman
authors: Jennifer L
authors: JL
authors: Gerton
authors: Hugo
authors: H
authors: Vega
authors: Alex V
authors: AV
authors: Levin
authors: Katsuhiko
authors: K
authors: Shirahige
authors: Michele
authors: M
authors: Champion
authors: Marjorie T
authors: MT
authors: Goodban
authors: Julia T
authors: JT
authors: O'Connor
authors: Mary
authors: M
authors: Pipan
authors: Julia
authors: J
authors: Horsfield
authors: Matthew A
authors: MA
authors: Deardorff
authors: Stacey L
authors: SL
authors: Ishman
authors: Dale
authors: D
authors: Dorsett
mesh_terms: D000123:Acetyltransferases / Q000235:genetics; D019588:Aging, Premature / Q000235:genetics; D000818:Animals; D018797:Cell Cycle Proteins / Q000235:genetics*; D002843:Chromatin / Q000235:genetics; D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics*; D003072:Cognition Disorders / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000235:genetics*; D003635:De Lange Syndrome / Q000235:genetics*; D004330:Drosophila; D004480:Ectromelia / Q000235:genetics*; D005247:Feeding Behavior; D057895:Haploinsufficiency; D006330:Heart Defects, Congenital / Q000196:embryology / Q000235:genetics; D006801:Humans; D006972:Hypertelorism / Q000235:genetics*; D051379:Mice; D023421:Models, Animal; D063146:Polycomb-Group Proteins / Q000235:genetics; D014176:Protein Biosynthesis / Q000235:genetics; D011506:Proteins / Q000235:genetics*; D059505:Telomere Homeostasis; D015027:Zebrafish; D000097722:Cohesins
chemical_list: D000123:Acetyltransferases; D018797:Cell Cycle Proteins; D002843:Chromatin; D002868:Chromosomal Proteins, Non-Histone; D063146:Polycomb-Group Proteins; D011506:Proteins; D000097722:Cohesins; C487465:NIPBL protein, human; C500785:ESCO2 protein, human
keywords: CdLS; Roberts syndrome; cohesins; de Lange syndrome; drosophila; intellectual disability; mice; zebrafish