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Publication Date2015, 2nd edition., Oxford monographs on medical genetics, ISBN 019989602X, xxvi, 814
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2014, Molecular genetics of human disease
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Human Mutation, ISSN 1059-7794, 09/2003, Volume 22, Issue 3, pp. 183 - 198
PTEN , on 10q23.3, encodes a major lipid phosphatase which signals down the phosphoinositol‐3‐kinase/Akt pathway and effects G1 cell cycle arrest and...
Cowden syndrome | Proteus syndrome | PTEN | phosphatase | Bannayan‐Riley‐Ruvalcaba syndrome | Akt | multiple hamartoma syndrome | Bannayan-Riley-Ruvalcaba syndrome | Multiple hamartoma syndrome | Phosphatase | GENOTYPE-PHENOTYPE CORRELATIONS | BANNAYAN-ZONANA-SYNDROME | LIPID PHOSPHATASE-ACTIVITY | TUMOR-SUPPRESSOR GENE | proteus syndrome | ADENOVIRAL-MEDIATED EXPRESSION | CELL-CYCLE ARREST | akt | RILEY-RUVALCABA-SYNDROME | ENDOCRINE NEOPLASIA TYPE-2 | JUVENILE POLYPOSIS SYNDROME | Barmayan-Riley-Ruvalcaba syndrome | GENETICS & HEREDITY | MMAC/PTEN INHIBITS PROLIFERATION | Phosphoric Monoester Hydrolases - genetics | Hamartoma Syndrome, Multiple - genetics | Humans | Phosphoric Monoester Hydrolases - physiology | Syndrome | Tumor Suppressor Proteins - physiology | Animals | PTEN Phosphohydrolase | Tumor Suppressor Proteins - genetics | Germ-Line Mutation | Proteus Syndrome - genetics | Abnormalities, Multiple - genetics | Disease Models, Animal
Cowden syndrome | Proteus syndrome | PTEN | phosphatase | Bannayan‐Riley‐Ruvalcaba syndrome | Akt | multiple hamartoma syndrome | Bannayan-Riley-Ruvalcaba syndrome | Multiple hamartoma syndrome | Phosphatase | GENOTYPE-PHENOTYPE CORRELATIONS | BANNAYAN-ZONANA-SYNDROME | LIPID PHOSPHATASE-ACTIVITY | TUMOR-SUPPRESSOR GENE | proteus syndrome | ADENOVIRAL-MEDIATED EXPRESSION | CELL-CYCLE ARREST | akt | RILEY-RUVALCABA-SYNDROME | ENDOCRINE NEOPLASIA TYPE-2 | JUVENILE POLYPOSIS SYNDROME | Barmayan-Riley-Ruvalcaba syndrome | GENETICS & HEREDITY | MMAC/PTEN INHIBITS PROLIFERATION | Phosphoric Monoester Hydrolases - genetics | Hamartoma Syndrome, Multiple - genetics | Humans | Phosphoric Monoester Hydrolases - physiology | Syndrome | Tumor Suppressor Proteins - physiology | Animals | PTEN Phosphohydrolase | Tumor Suppressor Proteins - genetics | Germ-Line Mutation | Proteus Syndrome - genetics | Abnormalities, Multiple - genetics | Disease Models, Animal
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Loading RightsEndocrine-Related Cancer, ISSN 1351-0088, 08/2018, Volume 25, Issue 8, pp. T121 - T140
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Loading RightsCancer Research, ISSN 0008-5472, 07/2018, Volume 78, Issue 13 Supplement, pp. 317 - 317
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Loading RightsJournal of Clinical Oncology, ISSN 0732-183X, 01/2017, Volume 35, Issue 3, pp. 377 - 377
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Loading RightsJournal of the National Cancer Institute, ISSN 0027-8874, 06/2016, Volume 108, Issue 6, p. djw013
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Loading RightsJournal of Medical Genetics, ISSN 0022-2593, 2000, Volume 37, Issue 11, pp. 828 - 830
BREAST-CANCER | GENOTYPE-PHENOTYPE CORRELATIONS | GENE | PHOSPHATASE-ACTIVITY | BANNAYAN-ZONANA-SYNDROME | DISEASE | GENETICS & HEREDITY | GERMLINE MUTATIONS | PTEN MUTATIONS | RILEY-RUVALCABA-SYNDROME | CELL-DEATH | Diagnosis, Differential | Phosphoric Monoester Hydrolases - genetics | Hamartoma Syndrome, Multiple - genetics | PTEN Phosphohydrolase | Hamartoma Syndrome, Multiple - diagnosis | Humans | Mutation | Population Surveillance | Tumor Suppressor Proteins
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Loading RightsJournal of the American Academy of Child & Adolescent Psychiatry, ISSN 0890-8567, 2012, Volume 51, Issue 1, pp. 28 - 40.e3
Objective The primary aim of the present study was to evaluate the validity of proposed DSM-5 criteria for autism spectrum disorder (ASD). Method We analyzed...
Pediatrics | Psychiatry | factor analysis | latent class | diagnosis | factor mixture | autism spectrum disorder | DIAGNOSTIC INTERVIEW | PSYCHIATRY | PSYCHOLOGY, DEVELOPMENTAL | PERVASIVE DEVELOPMENTAL DISORDERS | CHILDREN | TWIN | ACCURACY | GENERAL-POPULATION | MODELS | LATENT STRUCTURE | PEDIATRICS | TRAITS | AGE | Child Development Disorders, Pervasive - classification | Diagnostic and Statistical Manual of Mental Disorders | Siblings - psychology | United States | Humans | Child, Preschool | Male | Factor Analysis, Statistical | Psychiatric Status Rating Scales | Sensitivity and Specificity | Adolescent | Child Development Disorders, Pervasive - diagnosis | Female | Registries | Child | Clinical Trials, Phase I as Topic | Autism | Usage | Structural equation modeling | Analysis | Psychological manifestations of general diseases | Diagnosis | Mental illness | Standards | Caregivers | Algorithms | Medical diagnosis | Classification | Children & youth | Autism Spectrum Disorder
Pediatrics | Psychiatry | factor analysis | latent class | diagnosis | factor mixture | autism spectrum disorder | DIAGNOSTIC INTERVIEW | PSYCHIATRY | PSYCHOLOGY, DEVELOPMENTAL | PERVASIVE DEVELOPMENTAL DISORDERS | CHILDREN | TWIN | ACCURACY | GENERAL-POPULATION | MODELS | LATENT STRUCTURE | PEDIATRICS | TRAITS | AGE | Child Development Disorders, Pervasive - classification | Diagnostic and Statistical Manual of Mental Disorders | Siblings - psychology | United States | Humans | Child, Preschool | Male | Factor Analysis, Statistical | Psychiatric Status Rating Scales | Sensitivity and Specificity | Adolescent | Child Development Disorders, Pervasive - diagnosis | Female | Registries | Child | Clinical Trials, Phase I as Topic | Autism | Usage | Structural equation modeling | Analysis | Psychological manifestations of general diseases | Diagnosis | Mental illness | Standards | Caregivers | Algorithms | Medical diagnosis | Classification | Children & youth | Autism Spectrum Disorder
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Loading RightsMethods in Molecular Biology, ISSN 1064-3745, 2016, Volume 1388, pp. 63 - 73
Clinically, deregulation of PTEN function resulting in reduced PTEN expression and/or activity is implicated in human disease. Cowden syndrome (CS) is an...
PTEN hamartoma tumor syndrome | Cancer | PTEN Phosphohydrolase - genetics | Animals | Hamartoma Syndrome, Multiple - genetics | Blood Glucose - analysis | DNA Mutational Analysis | Humans | Mice
PTEN hamartoma tumor syndrome | Cancer | PTEN Phosphohydrolase - genetics | Animals | Hamartoma Syndrome, Multiple - genetics | Blood Glucose - analysis | DNA Mutational Analysis | Humans | Mice
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Loading RightsNature Reviews Cancer, ISSN 1474-175X, 01/2007, Volume 7, Issue 1, pp. 35 - 45
Cancer phenomics, the systematic acquisition and objective documentation of host and/or somatic cancer phenotypic data at many levels, is a young field...
GENOTYPE-PHENOTYPE CORRELATION | COWDEN-SYNDROME | MULTIPLE-ENDOCRINE-NEOPLASIA | ONCOLOGY | LHERMITTE-DUCLOS-DISEASE | BANNAYAN-ZONANA-SYNDROME | MEDULLARY-THYROID CARCINOMA | RILEY-RUVALCABA-SYNDROME | TUMOR-SUPPRESSOR PTEN | OF-THE-LITERATURE | SYNDROME PLEASE STAND | Neoplasms - metabolism | PTEN Phosphohydrolase - genetics | Signal Transduction | Humans | Gene Expression Profiling | Phenotype | Transfection | Neoplasms - genetics | Models, Genetic | Mutation | Proteomics - methods | Genomics - methods | Evolution, Molecular | Proto-Oncogene Proteins c-ret - genetics | Physiological aspects | Control | Care and treatment | Gene mutations | Methods | Cancer
GENOTYPE-PHENOTYPE CORRELATION | COWDEN-SYNDROME | MULTIPLE-ENDOCRINE-NEOPLASIA | ONCOLOGY | LHERMITTE-DUCLOS-DISEASE | BANNAYAN-ZONANA-SYNDROME | MEDULLARY-THYROID CARCINOMA | RILEY-RUVALCABA-SYNDROME | TUMOR-SUPPRESSOR PTEN | OF-THE-LITERATURE | SYNDROME PLEASE STAND | Neoplasms - metabolism | PTEN Phosphohydrolase - genetics | Signal Transduction | Humans | Gene Expression Profiling | Phenotype | Transfection | Neoplasms - genetics | Models, Genetic | Mutation | Proteomics - methods | Genomics - methods | Evolution, Molecular | Proto-Oncogene Proteins c-ret - genetics | Physiological aspects | Control | Care and treatment | Gene mutations | Methods | Cancer
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Loading RightsAnnals of the New York Academy of Sciences, ISSN 0077-8923, 12/2010, Volume 1214, Issue 1, pp. 70 - 82
Mendelian genetics forms the basis for gene‐informed risk assessment and management for the patient and family, and should be at the very foundation of 21st...
personalized healthcare | molecular diagnostics | multiple endocrine neoplasia syndromes | SDH | related pheochromocytoma/paraganglioma | PTEN | hamartoma tumor syndrome | predictive testing | Molecular diagnostics | Personalized healthcare | Predictive testing | PTEN hamartoma tumor syndrome | Multiple endocrine neoplasia syndromes | SDH-related pheochromocytoma/paraganglioma | NONPOLYPOSIS COLORECTAL-CANCER | MULTIDISCIPLINARY SCIENCES | HIPPEL-LINDAU-DISEASE | BANNAYAN-ZONANA-SYNDROME | TUMOR-SUPPRESSOR GENE | RILEY-RUVALCABA-SYNDROME | MEDULLARY-THYROID CARCINOMA | AUTISM SPECTRUM DISORDERS | NEOPLASIA TYPE 2B | GERM-LINE MUTATIONS | RET PROTOONCOGENE MUTATIONS | Proto-Oncogene Proteins - metabolism | Neoplastic Syndromes, Hereditary - prevention & control | Humans | Germ-Line Mutation | Neoplastic Syndromes, Hereditary - diagnosis | Proto-Oncogene Proteins - genetics | Neoplastic Syndromes, Hereditary - genetics | Genetic Counseling | Tyrosine | Phosphatases | Lubrication and lubricants | Oncology, Experimental | Research | Preventive health services | Thyroid cancer | Gene mutations | Parathyroid hormone | Analysis | Medical genetics | Genetic aspects | Medicine, Preventive | Tumors | Cancer | Genetics | Genetic counseling | Mutation
personalized healthcare | molecular diagnostics | multiple endocrine neoplasia syndromes | SDH | related pheochromocytoma/paraganglioma | PTEN | hamartoma tumor syndrome | predictive testing | Molecular diagnostics | Personalized healthcare | Predictive testing | PTEN hamartoma tumor syndrome | Multiple endocrine neoplasia syndromes | SDH-related pheochromocytoma/paraganglioma | NONPOLYPOSIS COLORECTAL-CANCER | MULTIDISCIPLINARY SCIENCES | HIPPEL-LINDAU-DISEASE | BANNAYAN-ZONANA-SYNDROME | TUMOR-SUPPRESSOR GENE | RILEY-RUVALCABA-SYNDROME | MEDULLARY-THYROID CARCINOMA | AUTISM SPECTRUM DISORDERS | NEOPLASIA TYPE 2B | GERM-LINE MUTATIONS | RET PROTOONCOGENE MUTATIONS | Proto-Oncogene Proteins - metabolism | Neoplastic Syndromes, Hereditary - prevention & control | Humans | Germ-Line Mutation | Neoplastic Syndromes, Hereditary - diagnosis | Proto-Oncogene Proteins - genetics | Neoplastic Syndromes, Hereditary - genetics | Genetic Counseling | Tyrosine | Phosphatases | Lubrication and lubricants | Oncology, Experimental | Research | Preventive health services | Thyroid cancer | Gene mutations | Parathyroid hormone | Analysis | Medical genetics | Genetic aspects | Medicine, Preventive | Tumors | Cancer | Genetics | Genetic counseling | Mutation
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Loading RightsJournal of Clinical Investigation, ISSN 0021-9738, 02/2019, Volume 129, Issue 2, pp. 452 - 464
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Loading RightsJournal of Surgical Oncology, ISSN 0022-4790, 01/2015, Volume 111, Issue 1, pp. 125 - 130
Cowden syndrome (CS) is an autosomal dominant hereditary cancer syndrome causing increased risk for breast, thyroid, renal, uterine, and other cancers as well...
cowden syndrome | 3‐5 | PTEN hamartoma tumor syndrome | hereditary cancer syndromes | Cowden syndrome | 3-5 | Hereditary cancer syndromes | SURGERY | RISKS | VARIANTS | PTEN MUTATIONS | BRCA1 | AUTISM SPECTRUM DISORDERS | BREAST | INDIVIDUALS | GENE | ONCOLOGY | DISEASE | GERMLINE MUTATIONS | PTEN Phosphohydrolase - genetics | Hamartoma Syndrome, Multiple - genetics | Hamartoma Syndrome, Multiple - diagnosis | Hamartoma Syndrome, Multiple - therapy | Humans | Neoplastic Syndromes, Hereditary - diagnosis | Neoplastic Syndromes, Hereditary - therapy | Neoplastic Syndromes, Hereditary - genetics | Mutation - genetics | Genetic aspects | Cancer
cowden syndrome | 3‐5 | PTEN hamartoma tumor syndrome | hereditary cancer syndromes | Cowden syndrome | 3-5 | Hereditary cancer syndromes | SURGERY | RISKS | VARIANTS | PTEN MUTATIONS | BRCA1 | AUTISM SPECTRUM DISORDERS | BREAST | INDIVIDUALS | GENE | ONCOLOGY | DISEASE | GERMLINE MUTATIONS | PTEN Phosphohydrolase - genetics | Hamartoma Syndrome, Multiple - genetics | Hamartoma Syndrome, Multiple - diagnosis | Hamartoma Syndrome, Multiple - therapy | Humans | Neoplastic Syndromes, Hereditary - diagnosis | Neoplastic Syndromes, Hereditary - therapy | Neoplastic Syndromes, Hereditary - genetics | Mutation - genetics | Genetic aspects | Cancer
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Loading RightsJOURNAL OF CLINICAL INVESTIGATION, ISSN 0021-9738, 02/2019, Volume 129, Issue 2, pp. 452 - 464
The tumor suppressor phosphatase and tensin homolog (PTEN) classically counteracts the PI3K/AKT/mTOR signaling cascade. Germline pathogenic PTEN mutations...
MEDICINE, RESEARCH & EXPERIMENTAL | ANDROGEN RECEPTOR | COWDEN-LIKE SYNDROME | GENOTYPE-PHENOTYPE CORRELATIONS | GERMLINE PTEN | LHERMITTE-DUCLOS-DISEASE | THYROID-CANCER | LIPID PHOSPHATASE-ACTIVITY | ATP-BINDING MOTIFS | TUMOR-SUPPRESSOR PTEN | AUTISM SPECTRUM DISORDERS | Gene mutations | Research | TOR protein | Tensin | Genes | Lipids | AKT protein | Genomes | Neurodevelopmental disorders | Kinases | Phosphatase | 1-Phosphatidylinositol 3-kinase | Proteins | Autism | Molecular modelling | Precision medicine | Risk assessment | Cell cycle | Tumor suppressor genes | Mutation | Neoplasia | PTEN protein | Cancer | Tumors
MEDICINE, RESEARCH & EXPERIMENTAL | ANDROGEN RECEPTOR | COWDEN-LIKE SYNDROME | GENOTYPE-PHENOTYPE CORRELATIONS | GERMLINE PTEN | LHERMITTE-DUCLOS-DISEASE | THYROID-CANCER | LIPID PHOSPHATASE-ACTIVITY | ATP-BINDING MOTIFS | TUMOR-SUPPRESSOR PTEN | AUTISM SPECTRUM DISORDERS | Gene mutations | Research | TOR protein | Tensin | Genes | Lipids | AKT protein | Genomes | Neurodevelopmental disorders | Kinases | Phosphatase | 1-Phosphatidylinositol 3-kinase | Proteins | Autism | Molecular modelling | Precision medicine | Risk assessment | Cell cycle | Tumor suppressor genes | Mutation | Neoplasia | PTEN protein | Cancer | Tumors
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Loading RightsAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 05/2013, Volume 163, Issue 2, pp. 114 - 121
PTEN is a dual-specificity phosphatase and well-known tumor suppressor gene. When functioning properly, it works in its canonical pathway to inhibit AKT/mTOR...
Cowden syndrome | PTEN | mTOR | AKT | PIK3CA | PI3K | MTOR | MAMMALIAN TARGET | BANNAYAN-ZONANA-SYNDROME | TUMOR-SUPPRESSOR GENE | LHERMITTE-DUCLOS DISEASE | RILEY-RUVALCABA-SYNDROME | ATP-BINDING MOTIFS | AUTISM SPECTRUM DISORDERS | COWDEN-SYNDROME | TUBEROUS SCLEROSIS COMPLEX | GENETICS & HEREDITY | PROTEUS-SYNDROME | Cancer | 1-Phosphatidylinositol 3-kinase
Cowden syndrome | PTEN | mTOR | AKT | PIK3CA | PI3K | MTOR | MAMMALIAN TARGET | BANNAYAN-ZONANA-SYNDROME | TUMOR-SUPPRESSOR GENE | LHERMITTE-DUCLOS DISEASE | RILEY-RUVALCABA-SYNDROME | ATP-BINDING MOTIFS | AUTISM SPECTRUM DISORDERS | COWDEN-SYNDROME | TUBEROUS SCLEROSIS COMPLEX | GENETICS & HEREDITY | PROTEUS-SYNDROME | Cancer | 1-Phosphatidylinositol 3-kinase
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Mendelian genetics of rare-and not so rare-cancers
: Mendelian heritable cancer syndromes
Annals of the New York Academy of Sciences, ISSN 0077-8923, 12/2010, Volume 1214, Issue 1, pp. 70 - 82
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