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Gastroenterology, ISSN 0016-5085, 2015, Volume 149, Issue 4, pp. 1017 - 1029.e3
Background & Aims Patients with bi-allelic germline mutations in mismatch repair (MMR) genes ( MLH1 , MSH2 , MSH6 , or PMS2 ) develop a rare but severe variant... 
Gastroenterology and Hepatology | Tumor | Colon Cancer | Predisposition | Functional Tests | SYSTEM | CELLS | BIALLELIC MUTATIONS | SOMATIC MUTATIONS | HEREDITARY | COLORECTAL-CANCER | PMS2 | MSH6 MUTATIONS | GASTROENTEROLOGY & HEPATOLOGY | GOLD STANDARD | NEUROFIBROMATOSIS TYPE-1 | MutL Protein Homolog 1 | Predictive Value of Tests | Colorectal Neoplasms - genetics | Colorectal Neoplasms, Hereditary Nonpolyposis - pathology | Humans | Drug Resistance, Neoplasm | Male | Neoplastic Syndromes, Hereditary - metabolism | Colorectal Neoplasms - diagnosis | Young Adult | DNA Mutational Analysis | Colorectal Neoplasms - drug therapy | Germ-Line Mutation | Mismatch Repair Endonuclease PMS2 | Neoplastic Syndromes, Hereditary - genetics | Caco-2 Cells | Lymphocytes - metabolism | Genetic Predisposition to Disease | Colorectal Neoplasms, Hereditary Nonpolyposis - drug therapy | Brain Neoplasms - diagnosis | HCT116 Cells | Brain Neoplasms - genetics | Neoplastic Syndromes, Hereditary - diagnosis | Heredity | MutS Homolog 2 Protein - genetics | Brain Neoplasms - drug therapy | Multiplex Polymerase Chain Reaction | Antineoplastic Agents, Alkylating - therapeutic use | Colorectal Neoplasms, Hereditary Nonpolyposis - metabolism | Phenotype | Adenosine Triphosphatases - genetics | Biomarkers, Tumor - genetics | Neoplastic Syndromes, Hereditary - drug therapy | Microsatellite Instability | Neoplastic Syndromes, Hereditary - pathology | Brain Neoplasms - pathology | DNA Repair Enzymes - genetics | Genetic Testing - methods | Brain Neoplasms - metabolism | Case-Control Studies | Transfection | Colorectal Neoplasms, Hereditary Nonpolyposis - diagnosis | Adult | Female | Nuclear Proteins - genetics | Colorectal Neoplasms - metabolism | Reproducibility of Results | Colorectal Neoplasms, Hereditary Nonpolyposis - genetics | DNA-Binding Proteins - genetics | Lymphocytes - drug effects | Adaptor Proteins, Signal Transducing - genetics | Colorectal Neoplasms - pathology | Methylation | Lymphomas | Diagnosis | Gene mutations | Lymphocytes | Leukemia | Colorectal cancer | Index Medicus | Abridged Index Medicus
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2008, Volume 16, Issue 1, pp. 79 - 88
Journal Article
Journal Article
Virchows Archiv, ISSN 0945-6317, 8/2018, Volume 473, Issue 2, pp. 241 - 246
Multiple familial trichoepitheliomas (MFT) is an autosomal dominantly inherited disease characterized by multiple skin appendage tumors. We describe a patient... 
Pathology | CYLD | Medicine & Public Health | Trichoepithelioma | Brooke syndrome | Vismodegib | Hedgehog pathway | CYLINDROMATOSIS | SOMATIC-MUTATIONS | PATHOLOGY | TRICHOBLASTIC CARCINOMA | BROOKE-SPIEGLER-SYNDROME | CYLD GENE | Immunohistochemistry | Neoplastic Syndromes, Hereditary - drug therapy | Up-Regulation | Anilides - therapeutic use | Neoplastic Syndromes, Hereditary - pathology | Skin Neoplasms - drug therapy | Zinc Finger Protein GLI1 - metabolism | Humans | Middle Aged | Male | Tomography, X-Ray Computed | Antineoplastic Agents - therapeutic use | Neoplastic Syndromes, Hereditary - metabolism | Neoplastic Syndromes, Hereditary - genetics | Pyridines - therapeutic use | Skin Neoplasms - pathology | Genetic Predisposition to Disease | Zinc Finger Protein GLI1 - genetics | Deubiquitinating Enzyme CYLD - genetics | Treatment Outcome | Heredity | Codon, Nonsense | Skin Neoplasms - metabolism | Phenotype | Signal Transduction - drug effects | Pedigree | Skin Neoplasms - genetics | Medical colleges | RNA | Gene mutations | Gliomas | Analysis | Genes | Genetic research | Genetic aspects | Skin | Gene expression | Nonsense mutation | Brain tumors | Regression analysis | Patients | Neoplasms | Signal transduction | Signaling | Inhibitors | Glioma | Hedgehog protein | Skin diseases | Mutation | Tumors | Index Medicus
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 12/2013, Volume 98, Issue 12, pp. E1936 - E1940
Context: The duration of hypothalamic-pituitary-adrenal (HPA) axis suppression after glucocorticoid treatment is uncertain. Objective: We aimed to determine... 
CUSHINGS-SYNDROME | GLUCOCORTICOID THERAPY | CIRCADIAN-RHYTHM | SALIVARY CORTISOL | ENDOCRINOLOGY & METABOLISM | TERM SUPPRESSION | INSUFFICIENCY | IMMUNOASSAY | CORTICOSTEROIDS | Neoplastic Syndromes, Hereditary - drug therapy | Prednisolone - adverse effects | Glucocorticoids - administration & dosage | Glucocorticoids - therapeutic use | Prednisolone - administration & dosage | Prospective Studies | Follow-Up Studies | Humans | Hydrocortisone - secretion | Hemangioma, Capillary - blood | Hydrocortisone - metabolism | Infant | Male | Neoplastic Syndromes, Hereditary - metabolism | Recovery of Function | Neoplastic Syndromes, Hereditary - blood | Antineoplastic Agents, Hormonal - adverse effects | Hemangioma, Capillary - drug therapy | Time Factors | Antineoplastic Agents, Hormonal - therapeutic use | Female | Child Development - drug effects | Prednisolone - therapeutic use | Hydrocortisone - blood | Hypothalamo-Hypophyseal System - physiopathology | Glucocorticoids - adverse effects | Hypothalamo-Hypophyseal System - drug effects | Pituitary-Adrenal System - secretion | Pituitary-Adrenal System - physiopathology | Pituitary-Adrenal System - drug effects | Antineoplastic Agents, Hormonal - administration & dosage | Hemangioma, Capillary - physiopathology | Saliva - metabolism | Neoplastic Syndromes, Hereditary - physiopathology | Circadian Rhythm - drug effects | Hemangioma, Capillary - metabolism | Index Medicus | Abridged Index Medicus
Journal Article
Journal Article
Biomedicine & Pharmacotherapy, ISSN 0753-3322, 2016, Volume 85, pp. 272 - 279
Abstract FABP4 is widely expressed in both normal and pathologic tissues. It promotes cell proliferation, survival and migration of endothelial cells, and... 
Internal Medicine | Medical Education | mTOR | Hemangioma | Rapamycin | FABP4 | Endothelial cells | MEDICINE, RESEARCH & EXPERIMENTAL | STEM-CELLS | SIGNALING PATHWAYS | ANGIOGENESIS | VASCULOGENESIS | BINDING PROTEIN 4 | INFANTILE HEMANGIOMA | VASCULAR MALFORMATIONS | PHARMACOLOGY & PHARMACY | MICE | EXPRESSION | Hemangioma, Capillary - pathology | Neoplastic Syndromes, Hereditary - drug therapy | Neoplastic Syndromes, Hereditary - pathology | TOR Serine-Threonine Kinases - metabolism | Humans | Fatty Acid-Binding Proteins - metabolism | Hemangioma, Capillary - genetics | TOR Serine-Threonine Kinases - antagonists & inhibitors | Hemangioma, Capillary - drug therapy | Transfection | RNA Interference | Time Factors | Cell Cycle Proteins - genetics | Antineoplastic Agents - pharmacology | Neoplastic Syndromes, Hereditary - genetics | Tumor Cells, Cultured | Hemangioma, Capillary - enzymology | Cell Cycle Proteins - metabolism | Fatty Acid-Binding Proteins - genetics | Sirolimus - pharmacology | Signal Transduction - drug effects | Neoplastic Syndromes, Hereditary - enzymology | Cell Proliferation - drug effects | Protein Kinase Inhibitors - pharmacology | Endothelial Cells - pathology | Endothelial Cells - enzymology | Endothelial Cells - drug effects | Medical colleges | Analysis | Genetic research | Health aspects | Endothelium | Endothelial growth factors | Fatty acids | Index Medicus
Journal Article
Journal Article
Journal Article