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American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, ISSN 1552-4841, 06/2007, Volume 144B, Issue 4, pp. 484 - 491
Mutations in the PTEN gene are associated with a broad spectrum of disorders, including Cowden syndrome (CS), Bannayan–Riley–Ruvalcaba syndrome, Proteus... 
Cowden syndrome | multiplex ligation‐dependent probe amplification | sequence analysis | Bannayan–Riley–Ruvalcaba syndrome | polydactyly | Bannayan-Riley-ruvalcaba syndrome | Multiplex ligation-dependent probe amplification | Sequence analysis | Polydactyly | MENTAL-RETARDATION | DIAGNOSTIC INTERVIEW | PSYCHIATRY | C2 DOMAIN | KINASE | multiplex ligation-dependent probe | RILEY-RUVALCABA-SYNDROME | Bannayan-Riley-Ruvalcaba syndrome | TUMOR-SUPPRESSOR PTEN | FEATURES | COWDEN-SYNDROME | amplification | CELL-MIGRATION | GENETICS & HEREDITY | HEAD CIRCUMFERENCE | Autistic Disorder - genetics | Amino Acid Sequence | PTEN Phosphohydrolase - genetics | Genetic Testing | Introns - genetics | Humans | Child, Preschool | Molecular Sequence Data | Exons - genetics | Male | Mutation - genetics | Syndrome | Aspartic Acid - genetics | DNA Mutational Analysis | Adolescent | Adult | Female | Autistic Disorder - complications | Child | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - complications | Craniofacial Abnormalities - genetics | PTEN Phosphohydrolase - chemistry | Asparagine - genetics | Index Medicus | multiplex ligation-dependent probe amplification | Exons | Aspartic Acid | PTEN Phosphohydrolase | Psykiatri | Genetics | Craniofacial Abnormalities | Multiple | Autistic Disorder | Complications | Introns | Abnormalities | Preschool | Chemistry | Asparagine | Mutation | Psychiatry
Journal Article
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
Reference
The American Journal of Human Genetics, ISSN 0002-9297, 06/2019, Volume 104, Issue 6, pp. 1223 - 1232
Aberrant signaling through pathways controlling cell response to extracellular stimuli constitutes a central theme in disorders affecting development.... 
RRAS2 | RASopathies | MAPK | RAS | Noonan syndrome
Journal Article
Biological Psychiatry, ISSN 0006-3223, 2009, Volume 66, Issue 4, pp. 349 - 359
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2012, Volume 158A, Issue 10, pp. 2430 - 2438
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2007, Volume 80, Issue 1, pp. 1 - 11
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 05/2012, Volume 20, Issue 5, pp. 527 - 533
Journal Article
Journal Article