Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2

European Journal of Human Genetics

Volumn 23, Issue 12, 2015, Pages 1665-1672

  Kwiatkowski, David J ^a   Palmer, Michael R ^b   Jozwiak, Sergiusz ^c   Bissler, John ^d   Franz, David ^e   Segal, Scott ^f   Chen, David ^f   Sampson, Julian R ^g  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b Translational and Experimental Medicine   (United States)

^c CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^d UNIVERSITY OF TENNESSEE HEALTH SCIENCE CENTER   (United States)

^e CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^f NOVARTIS PHARMA AG   (Switzerland)

^g CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

EVEROLIMUS; PROTEIN DERIVATIVE; PROTEIN TSC1; TUBERIN; UNCLASSIFIED DRUG; ANTINEOPLASTIC AGENT; TUBEROUS SCLEROSIS COMPLEX 1 PROTEIN; TUMOR SUPPRESSOR PROTEIN;

ANGIOMYOLIPOMA; ARTICLE; GENE DELETION; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; MULTICENTER STUDY (TOPIC); PRIORITY JOURNAL; RANDOMIZED CONTROLLED TRIAL (TOPIC); TREATMENT RESPONSE; TUBEROUS SCLEROSIS; ADOLESCENT; ADULT; BRAIN NEOPLASMS; CHILD; CONTROLLED STUDY; FEMALE; GENETICS; INFANT; MALE; MUTATION; PRESCHOOL CHILD; RANDOMIZED CONTROLLED TRIAL;

ADOLESCENT; ADULT; ANGIOMYOLIPOMA; ANTINEOPLASTIC AGENTS; BRAIN NEOPLASMS; CHILD; CHILD, PRESCHOOL; EVEROLIMUS; FEMALE; HUMANS; INFANT; MALE; MUTATION; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR PROTEINS;

EID: 84948716069     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2015.47     Document Type: Article

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