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CLINICAL CANCER RESEARCH, ISSN 1078-0432, 01/2017, Volume 23, Issue 1, pp. 26 - 34
Purpose: Alpelisib, a selective oral inhibitor of the class I PI3K catalytic subunit p110 alpha, has shown synergistic antitumor activity with endocrine... 
ACTIVATION | NVP-BYL719 | PIK3CA MUTATIONS | PI3K | ONCOLOGY | PHOSPHATIDYLINOSITOL 3-KINASE | GROWTH | ESTROGEN DEPRIVATION | RESISTANCE | ALPHA | TUMORS | Triazoles - administration & dosage | Receptors, Estrogen - metabolism | Humans | Middle Aged | Receptor, ErbB-2 - metabolism | Antineoplastic Combined Chemotherapy Protocols - adverse effects | Thiazoles - administration & dosage | Phosphatidylinositol 3-Kinases - antagonists & inhibitors | Receptor, Fibroblast Growth Factor, Type 1 - genetics | Biomarkers, Tumor | Breast Neoplasms - metabolism | Nitriles - administration & dosage | Neoplasm Metastasis | DNA Mutational Analysis | Adult | Female | Aromatase Inhibitors - administration & dosage | Receptors, Estrogen - genetics | In Situ Hybridization, Fluorescence | Treatment Outcome | Breast Neoplasms - drug therapy | Phosphatidylinositol 3-Kinases - genetics | Maximum Tolerated Dose | Breast Neoplasms - genetics | Antineoplastic Combined Chemotherapy Protocols - therapeutic use | Breast Neoplasms - pathology | Cell Line, Tumor | Aged | Mutation | Neoplasm Staging | Letrozole | Therapy | Toxicity | p53 Protein | Exanthema | Clinical trials | Metastasis | K-Ras protein | Metastases | Gene sequencing | Anticancer properties | Hyperglycemia | Safety engineering | Catalysis | Fibroblast growth factor receptor 1 | Deoxyribonucleic acid--DNA | Diarrhea | Endocrine therapy | Fatigue | Nausea | Breast cancer | Patients | ErbB-2 protein | 1-Phosphatidylinositol 3-kinase | Inhibitors | Experimental design | Breast | Antitumor activity | Tumors | DNA sequencing | Cancer | Index Medicus
Journal Article
European Journal of Cancer, ISSN 0959-8049, 04/2018, Volume 93, pp. 69 - 78
Journal Article
Stroke, ISSN 0039-2499, 02/2010, Volume 41, Issue 2, pp. 210 - 217
Journal Article
Neurology, ISSN 0028-3878, 11/2012, Volume 79, Issue 19, pp. 1983 - 1989
Journal Article
Journal Article
Neurology, ISSN 0028-3878, 05/2012, Volume 78, Issue 18, pp. 1434 - 1440
Objective: To assess the cognitive phenotype of glucocerebrosidase (GBA) mutation carriers with early-onset Parkinson disease (PD). Methods: We administered a... 
MINI-MENTAL-STATE | MULTICENTER | DEMENTIA | RISK | ALPHA-SYNUCLEIN | GLUCOCEREBROSIDASE MUTATIONS | EXPRESSION | PROGRESSION | CLINICAL NEUROLOGY | PARKINSONS-DISEASE | IMPAIRMENT | Olfaction Disorders - genetics | Glucosylceramidase - genetics | Genetic Testing | Memory Disorders - genetics | Humans | Middle Aged | Dementia - diagnosis | Male | Memory Disorders - diagnosis | Olfaction Disorders - diagnosis | Dementia - genetics | Basal Ganglia Diseases - genetics | DNA Mutational Analysis | beta-Glucosidase - genetics | Basal Ganglia Diseases - diagnosis | Mental Status Schedule | Adult | Cognitive Dysfunction - genetics | Female | Cognitive Dysfunction - diagnosis | Depressive Disorder - genetics | Depressive Disorder - diagnosis | Protein-Serine-Threonine Kinases - genetics | Genotype | Parkinson Disease - genetics | Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 | Neuropsychological Tests | Phenotype | Parkinson Disease - diagnosis | Ubiquitin-Protein Ligases - genetics | Genetic Carrier Screening | Index Medicus | Abridged Index Medicus | Executive function | Demography | Parkinson's disease | Neurodegenerative diseases | Memory | spatial memory | Attention | Cognitive ability | Risk factors | Dementia disorders | Glucosylceramidase | Parkin protein | Mutation | LRRK2 protein | Age | Genotypes | Movement disorders | 165 | 201 | 205
Journal Article
by Gelb, Bruce and Brueckner, Martina and Chung, Wendy and Goldmuntz, Elizabeth and Kaltman, Jonathan and Kaski, Juan Pablo and Kim, Richard and Kline, Jennie and Mercer-Rosa, Laura and Porter, George and Roberts, Amy and Rosenberg, Ellen and Seiden, Howard and Seidman, Christine and Sleeper, Lynn and Tennstedt, Sharon and Schramm, Charlene and Burns, Kristin and Pearson, Gail and Breitbart, Roger and Colan, Steven and Geva, Judith and Monafo, Angela and Stryker, Janice and McDonough, Barbara and Seidman, Jonathan and Edman, Sharon and Garbarini, Jennifer and Hakonarson, Hakon and Mitchell, Laura and Tusi, Jessica and White, Peter and Woyciechowski, Stacy and Warburton, Dorothy and Awad, Danielle and Celia, Katrina and Etwaru, Davina and Sond, Jaswinder Kaur and Korsin, Rosalind and Lanz, Alyssa and Marquez, Emma and Williams, Ismee and Wilpers, Abigail and Yee, Roslyn and Guevara, Denise and Julian, Ariel and Neal, Meghan Mac and Mintz, Cassie and Peter, Inga and Sachidanandam, Ravi and Romano-Adesman, Angela and Gruber, Dorota and Stellato, Nancy and Lifton, Richard and Cross, Nancy and Deanfield, John and Giardini, Alessandro and Flack, Karen and Taillie, Eileen and Tran, Nhu and Dandreo, Kimberly and Gallagher, Dianne and Lu, Minmin and Berlin, Dorit and Beiswanger, Christine and Italia, Mike and Brooks, Maria and Olive, Michelle and Botkin, Jeffrey and Dupuis, Josee and Garg, Vidu and Watson, Mike and Bristow, James and Evans, Todd and Kendziorski, Christina and Mardis, Elaine and Murray, Jeffrey and Saltz, Joel and Wong, Hector and Pediatric Cardiac Genomics Consort and Pediatric Cardiac Genomics Consortium and Core Laboratories for PCGC and Biorepository, Coriell Institutes and Clinical Sites and Data Hub, Children’s Hospital Philadelphia and Data Coordinating Center and Genotyping Array, Children’s Hospital Philadelphia and External Advisory Committee and Candidate Gene Evaluation and RNASeq, Harvard Medical School and Confirmation, Columbia University and Observational Study Monitoring Board and National Heart, Lung, and Blood Institute and Whole Genome Sequencing Harvard Medical School and Brigham & Women’s Hospital and Whole Exome Sequencing, Yale University and Writing Committee
Circulation Research, ISSN 0009-7330, 02/2013, Volume 112, Issue 4, pp. 698 - 706
Congenital heart defects (CHD) are the leading cause of infant mortality among birth defects, and later morbidities and premature mortality remain problematic.... 
Congenital cardiac defects | Congenital heart disease | Genomic study | Human genetics | Genome-wide analysis | human genetics | DEFECTS | CARDIAC & CARDIOVASCULAR SYSTEMS | HYPOPLASTIC LEFT-HEART | NKX2-5 MUTATIONS | genomic study | LEFT-RIGHT ASYMMETRY | NATIONAL HEART | congenital cardiac defects | COPY-NUMBER VARIATION | WORKING GROUP | MALFORMATIONS | genome-wide analysis | congenital heart disease | BICUSPID AORTIC-VALVE | PERIPHERAL VASCULAR DISEASE | HEMATOLOGY | ASSOCIATION | Biological Specimen Banks - organization & administration | Prospective Studies | Follow-Up Studies | Outcome Assessment (Health Care) | United States | Genomics | Humans | Child, Preschool | Infant | Data Collection | National Heart, Lung, and Blood Institute (U.S.) - organization & administration | Patient Selection | Schools, Medical - organization & administration | Young Adult | Heart Defects, Congenital - genetics | DNA Mutational Analysis | Adult | Registries - ethics | Child | Infant, Newborn | Databases, Factual | Genetic Association Studies | Genotype | Clinical Trials as Topic | Gene Dosage | Interdisciplinary Communication | Translational Medical Research - organization & administration | Phenotype | Confidentiality | Adolescent | Heart Defects, Congenital - epidemiology | Hospitals, Pediatric - organization & administration | Index Medicus
Journal Article
Cancer Medicine, ISSN 2045-7634, 06/2014, Volume 3, Issue 3, pp. 623 - 631
Journal Article
Bioinformatics, ISSN 1367-4803, 01/2011, Volume 27, Issue 2, pp. 175 - 181
Journal Article
Journal Article