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Lancet Oncology, The, ISSN 1470-2045, 2011, Volume 12, Issue 1, pp. 49 - 55
Journal Article
Lancet Oncology, ISSN 1470-2045, 2010, Volume 11, Issue 4, pp. 366 - 372
Journal Article
Journal Article
Clinical Cancer Research, ISSN 1078-0432, 05/2012, Volume 18, Issue 10, pp. 2828 - 2837
Journal Article
Modern Pathology, ISSN 0893-3952, 11/2013, Volume 26, Issue 11, pp. 1525 - 1535
The switch/sucrose non-fermentable (SWI/SNF) subunit ARID1A (AT-rich interactive domain 1A gene) has been recently postulated as a novel tumor suppressor of... 
endometrial cancer | microsatellite instability | ARID1A | Lynch syndrome | METHYLATION | COMPLEX | MSI | REMODELING GENE ARID1A | PATHOLOGY | HNPCC | TUMOR-SUPPRESSOR | GRADE | COMPONENT | MUTATIONS | Immunohistochemistry | MutL Protein Homolog 1 | ras Proteins - genetics | Microsatellite Instability | Proto-Oncogene Proteins p21(ras) | Nuclear Proteins - analysis | Prognosis | Humans | Middle Aged | PTEN Phosphohydrolase - analysis | Gene Expression Regulation, Neoplastic | DNA-Binding Proteins - analysis | SMARCB1 Protein | Tumor Suppressor Protein p53 - analysis | Endometrial Neoplasms - genetics | DNA Mutational Analysis | Aged, 80 and over | Adult | Colorectal Neoplasms, Hereditary Nonpolyposis - enzymology | Female | Nuclear Proteins - genetics | Promoter Regions, Genetic | Genetic Predisposition to Disease | Endometrial Neoplasms - enzymology | Signal Transduction | Colorectal Neoplasms, Hereditary Nonpolyposis - genetics | Down-Regulation | Gene Silencing | Proto-Oncogene Proteins - genetics | Phosphatidylinositol 3-Kinases - genetics | Phenotype | Class I Phosphatidylinositol 3-Kinases | Chromosomal Proteins, Non-Histone - analysis | Adaptor Proteins, Signal Transducing - genetics | Proto-Oncogene Proteins c-akt - analysis | Endometrial Neoplasms - pathology | Aged | Transcription Factors - analysis | Mutation | Index Medicus
Journal Article
Journal Article
Journal of clinical endocrinology and metabolism, ISSN 0021-972X, 2017, Volume 102, Issue 12, pp. 4534 - 4540
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 01/2014, Volume 51, Issue 1, pp. 55 - 60
Journal Article
PLoS ONE, ISSN 1932-6203, 03/2015, Volume 10, Issue 3, p. e0119030
Background Neurofibromatosis type I (NF1, MIM#162200) is a relatively frequent genetic condition, which predisposes to tumor formation. Apart from tumors,... 
MITOCHONDRIAL KINASE COMPLEX | ACUTE REGULATORY PROTEIN | STEROIDOGENIC ACTIVITY | GENE | MULTIDISCIPLINARY SCIENCES | MOUSE | GROWTH | PRECOCIOUS PUBERTY | NEUROFIBROMATOSIS TYPE-1 | BLOOD-PRESSURE | ADRENAL-GLAND | Humans | Adrenal Cortex - metabolism | Adrenal Hyperplasia, Congenital - metabolism | Child, Preschool | Adrenal Cortex - pathology | Adrenal Hyperplasia, Congenital - genetics | Loss of Heterozygosity | Homeodomain Proteins - genetics | Animals | Adolescent | Adrenal Hyperplasia, Congenital - pathology | Female | Neurofibromatosis 1 - metabolism | Mice | Neurofibromatosis 1 - genetics | Neurofibromin 1 - metabolism | Child | Neurofibromin 1 - genetics | Adrenocorticotropic Hormone - metabolism | Hypertension | Proteins | ACTH | Mitochondrial DNA | Corticosterone | Brain | Deregulation | Phosphorylation | Adrenal glands | Mesenchyme | Hyperplasia | Homeostasis | Neurofibromin 1 | Biosynthesis | Steroidogenic acute regulatory protein | Kinases | Aldosterone | Hydrocortisone | Inactivation | Lysates | Signal transduction | Mitochondria | Genetics | Medulla oblongata | Adrenal gland | Deoxyribonucleic acid--DNA | Puberty | Head | Deactivation | Adrenal medulla | Abnormalities | Cortex | Adrenal cortex | MAP kinase | Patients | Cholesterol | Heterozygosity | Adrenocorticotropic hormone | Neurofibromatosis | Loss of heterozygosity | Regulation | Mutation | Tumors | Deoxyribonucleic acid | DNA
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 10/2018, Volume 55, Issue 10, pp. 661 - 668
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 09/2018, Volume 26, Issue 9, pp. 1339 - 1347
Although it is well established that paternally transmitted germline variants in SDHD are associated with multifocal paragangliomas and lifelong follow-up is... 
GENE-MUTATIONS | HEAD | DIAGNOSIS | MANAGEMENT | PHEOCHROMOCYTOMA | NECK PARAGANGLIOMAS | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | NETHERLANDS | FOUNDER MUTATIONS | HIGH PREVALENCE | EXPRESSION | Paraganglioma | Skull
Journal Article