Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: Abstracts from the 2014 Scientific and Educational Symposium

American Journal of Medical Genetics, Part A

Volumn 167, Issue 6, 2015, Pages 1179-1192

  Kline, Antonie D ^a   Calof, Anne L ^b   Lander, Arthur D ^b   Gerton, Jennifer L ^c   Krantz, Ian D ^d,e   Dorsett, Dale ^f   Deardorff, Matthew A ^d,e   Blagowidow, Natalie ^a   Yokomori, Kyoko ^b   Shirahige, Katsuhiko ^g   Santos, Rosaysela ^b   Woodman, Julie ^h   Megee, Paul C ^h   O'Connor, Julia T ^i,j   Egense, Alena ^k   Noon, Sarah ^d   Belote, Maurice ^l   Goodban, Marjorie T ^m   Hansen, Blake D ⁿ   Timmons, Jenni Glad ^o   Musio, Antonio ^p   Ishman, Stacey L ^q   Bryan, Yvon ^r   Wu, Yaning ^d   Bettini, Laura R ^s   Mehta, Devanshi ^d   Zakari, Musinu ^c   Mills, Jason A ^d   Srivastava, Siddharth ^j   Haaland, Richard E ^t   more..

^a GREATER BALTIMORE MEDICAL CENTER   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF KANSAS SCHOOL OF MEDICINE   (United States)

^d CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^e UNIVERSITY OF PENNSYLVANIA   (United States)

^f SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g UNIVERSITY OF TOKYO   (Japan)

^h UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

ⁱ KENNEDY KRIEGER INSTITUTE   (United States)

^j JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^k UNIVERSITY OF MARYLAND MEDICAL CENTER   (United States)

^l SAN FRANCISCO STATE UNIVERSITY   (United States)

^m ELMHURST COLLEGE   (United States)

ⁿ BRIGHAM YOUNG UNIVERSITY   (United States)

^o UNIVERSITY OF MINNESOTA   (United States)

^p CNR   (Italy)

^q UNIVERSITY OF CINCINNATI   (United States)

^r WAKE FOREST BAPTIST HEALTH   (United States)

^s SAN GERARDO HOSPITAL   (Italy)

^t Clinical Advisory Board   (United States)

more..

Author keywords

CdLS; Cohesin complex; Cohesinopathy; De Lange syndrome; Drosophila; Intellectual disability; Mice; Zebrafish

Indexed keywords

COHESIN; MEMBRANE PROTEIN; POLYCOMB GROUP PROTEIN; PROTEIN SMC3; RIBOSOME RNA; RNA POLYMERASE II; SCC2 PROTEIN; UNCLASSIFIED DRUG; CELL CYCLE PROTEIN; NONHISTONE PROTEIN;

ABERRANT BEHAVIOR CHECKLIST; ANESTHESIA INDUCTION; BEHAVIOR CHANGE; BIOGENESIS; BONE DYSPLASIA; CAREGIVER; CHROMOSOME SEGREGATION; CIRCADIAN RHYTHM; CLINICAL ASSESSMENT TOOL; COGNITIVE DEFECT; COHORT ANALYSIS; COMMUNICATION DISORDER; COMPLEX FORMATION; COMPULSION; CONFERENCE PAPER; CONGENITAL HEART MALFORMATION; DATA BASE; DE LANGE SYNDROME; DELAYED PUBERTY; DIGITAL DROPLET POLYMERASE CHAIN REACTION; DISEASE ASSOCIATION; DISEASE MODEL; DISEASE SEVERITY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DROSOPHILA; ENZYME ACTIVITY; EVIDENCE BASED MEDICINE; FAMILY RELATION; FRAGILE X SYNDROME; GENE; GENE EXPRESSION REGULATION; GENE FUNCTION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC MANIPULATION; HEALTH SERVICE; HEARING IMPAIRMENT; HETEROZYGOSITY; HUMAN; INTERPERSONAL COMMUNICATION; ITALIAN (CITIZEN); LIMB DEVELOPMENT; LUNG DISEASE; MAU2 GENE; MEDICAL EDUCATION; MEDICAL HISTORY; MEDICAL LITERATURE; MEDICAL RESEARCH; MEDICAL SOCIETY; MUTISM; NIPBL GENE; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; OBESITY; ORTHOLOGY; PARENTAL ATTITUDE; PATHOGENESIS; PATIENT CARE; PHENOTYPE; PLURIPOTENT STEM CELL; POLYMERASE CHAIN REACTION; PRACTICE GUIDELINE; PREDICTION; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN DOMAIN; PROTEIN FUNCTION; PROTEIN PHOSPHORYLATION; PROTEIN SUBUNIT; QUALITY OF LIFE; RESIDENTIAL AREA; RESPIRATION CONTROL; RNA TRANSLATION; SBAR TOOL; SCORING SYSTEM; SHORT STATURE; SIGNAL TRANSDUCTION; SMC1A GENE; SOCIAL PHOBIA; SYMPTOMATOLOGY; TRANSCRIPTION REGULATION; TREATMENT OUTCOME; UNITED STATES; VERTEBRATE; VISUAL IMPAIRMENT; ADULT; ANIMAL; CALIFORNIA; CHILD; DROSOPHILA MELANOGASTER; GENETICS; METABOLISM; MOUSE; MUTATION; PATHOLOGY; ZEBRA FISH;

DANIO RERIO; MUS;

ADULT; ANIMALS; CALIFORNIA; CELL CYCLE PROTEINS; CHILD; CHROMOSOMAL PROTEINS, NON-HISTONE; DE LANGE SYNDROME; DISEASE MODELS, ANIMAL; DROSOPHILA MELANOGASTER; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HUMANS; MICE; MUTATION; PHENOTYPE; SIGNAL TRANSDUCTION; ZEBRAFISH;

EID: 84929951800     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37056     Document Type: Conference Paper

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