TY - JOUR
T1 - Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex
T2 - Abstracts from the 2014 Scientific and Educational Symposium
AU - Kline, Antonie D.
AU - Calof, Anne L.
AU - Lander, Arthur D.
AU - Gerton, Jennifer L.
AU - Krantz, Ian D.
AU - Dorsett, Dale
AU - Deardorff, Matthew A.
AU - Blagowidow, Natalie
AU - Yokomori, Kyoko
AU - Shirahige, Katsuhiko
AU - Santos, Rosaysela
AU - Woodman, Julie
AU - Megee, Paul C.
AU - O'Connor, Julia T.
AU - Egense, Alena
AU - Noon, Sarah
AU - Belote, Maurice
AU - Goodban, Marjorie T.
AU - Hansen, Blake D.
AU - Timmons, Jenni Glad
AU - Musio, Antonio
AU - Ishman, Stacey L.
AU - Bryan, Yvon
AU - Wu, Yaning
AU - Bettini, Laura R.
AU - Mehta, Devanshi
AU - Zakari, Musinu
AU - Mills, Jason A.
AU - Srivastava, Siddharth
AU - Haaland, Richard E.
N1 - Publisher Copyright:
© 2015 Wiley Periodicals, Inc.
PY - 2015/6/1
Y1 - 2015/6/1
N2 - Cornelia de Lange Syndrome (CdLS) is the most common example of disorders of the cohesin complex, or cohesinopathies. There are a myriad of clinical issues facing individuals with CdLS, particularly in the neurodevelopmental system, which also have implications for the parents and caretakers, involved professionals, therapists, and schools. Basic research in developmental and cell biology on cohesin is showing significant progress, with improved understanding of the mechanisms and the possibility of potential therapeutics. The following abstracts are presentations from the 6th Cornelia de Lange Syndrome Scientific and Educational Symposium, which took place on June 25-26, 2014, in conjunction with the Cornelia de Lange Syndrome Foundation National Meeting in Costa Mesa, CA. The Research Committee of the CdLS Foundation organizes the meeting, reviews and accepts abstracts, and subsequently disseminates the information to the families through members of the Clinical Advisory Board. In addition to the scientific and clinical discussions, there were educationally focused talks related to practical aspects of behavior and development. AMA CME credits were provided by Greater Baltimore Medical Center, Baltimore, MD.
AB - Cornelia de Lange Syndrome (CdLS) is the most common example of disorders of the cohesin complex, or cohesinopathies. There are a myriad of clinical issues facing individuals with CdLS, particularly in the neurodevelopmental system, which also have implications for the parents and caretakers, involved professionals, therapists, and schools. Basic research in developmental and cell biology on cohesin is showing significant progress, with improved understanding of the mechanisms and the possibility of potential therapeutics. The following abstracts are presentations from the 6th Cornelia de Lange Syndrome Scientific and Educational Symposium, which took place on June 25-26, 2014, in conjunction with the Cornelia de Lange Syndrome Foundation National Meeting in Costa Mesa, CA. The Research Committee of the CdLS Foundation organizes the meeting, reviews and accepts abstracts, and subsequently disseminates the information to the families through members of the Clinical Advisory Board. In addition to the scientific and clinical discussions, there were educationally focused talks related to practical aspects of behavior and development. AMA CME credits were provided by Greater Baltimore Medical Center, Baltimore, MD.
KW - CdLS
KW - Cohesin complex
KW - Cohesinopathy
KW - De Lange syndrome
KW - Drosophila
KW - Intellectual disability
KW - Mice
KW - Zebrafish
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U2 - 10.1002/ajmg.a.37056
DO - 10.1002/ajmg.a.37056
M3 - Article
C2 - 25899772
AN - SCOPUS:84929951800
SN - 1552-4825
VL - 167
SP - 1179
EP - 1192
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 6
ER -