| scholarly article | Q13442814 |
| P50 | author | Charis Eng | Q37385393 |
| P2093 | author name string | Min-Han Tan | |
| Lisa A Rybicki | |||
| Jin-Lian Chen | |||
| Charissa Peterson | |||
| Mohammed S Orloff | |||
| Jessica Mester | |||
| Yiran Yang | |||
| Holly Pederson | |||
| Berna Remzi | |||
| Kresimira Milas | |||
| P2860 | cites work | Cancer and Lhermitte-Duclos disease are common in Cowden syndrome patients | Q21198716 |
| The lipid phosphatase activity of PTEN is critical for its tumor supressor function | Q22007981 | ||
| Ubiquitination regulates PTEN nuclear import and tumor suppression | Q24292946 | ||
| TEP1, encoded by a candidate tumor suppressor locus, is a novel protein tyrosine phosphatase regulated by transforming growth factor beta | Q24310394 | ||
| Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification | Q24530153 | ||
| Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway | Q24532136 | ||
| Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes | Q24649528 | ||
| Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations | Q24673663 | ||
| Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome | Q24675464 | ||
| Will the real Cowden syndrome please stand up: revised diagnostic criteria | Q24681567 | ||
| PTEN inhibits insulin-stimulated MEK/MAPK activation and cell growth by blocking IRS-1 phosphorylation and IRS-1/Grb-2/Sos complex formation in a breast cancer model | Q28202775 | ||
| Cancer phenomics: RET and PTEN as illustrative models | Q28278854 | ||
| Negative regulation of PKB/Akt-dependent cell survival by the tumor suppressor PTEN | Q28513537 | ||
| Essential role for nuclear PTEN in maintaining chromosomal integrity | Q28513781 | ||
| PTEN coordinates G(1) arrest by down-regulating cyclin D1 via its protein phosphatase activity and up-regulating p27 via its lipid phosphatase activity in a breast cancer model | Q32069431 | ||
| The PTEN/MMAC1 tumor suppressor phosphatase functions as a negative regulator of the phosphoinositide 3-kinase/Akt pathway | Q33599964 | ||
| A systematic review of the frequency and prognosis of arteriovenous malformations of the brain in adults | Q34092463 | ||
| PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome | Q34504165 | ||
| PTEN hamartoma tumor syndrome: an overview | Q34996547 | ||
| Subtle variations in Pten dose determine cancer susceptibility | Q35055350 | ||
| Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly | Q36053966 | ||
| Cowden syndrome-affected patients with PTEN promoter mutations demonstrate abnormal protein translation | Q36430799 | ||
| PTEN enters the nuclear age. | Q36705731 | ||
| Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers | Q36839671 | ||
| Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome | Q36847856 | ||
| Genetic and phenotypic heterogeneity in the PTEN hamartoma tumour syndrome. | Q37270416 | ||
| Cowden syndrome: a critical review of the clinical literature | Q37313091 | ||
| Endemic Goiter and Cretinism at the Dawn of the Third Millennium | Q40108415 | ||
| Lack of PTEN sequesters CHK1 and initiates genetic instability. | Q40458578 | ||
| Arteriovenous malformations in Cowden syndrome | Q42999288 | ||
| Natural history of uterine polyps and leiomyomata | Q43808859 | ||
| Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation | Q45345194 | ||
| Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner | Q47999441 | ||
| Prevalence of developmental delays and participation in early intervention services for young children | Q50129205 | ||
| Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly | Q50303516 | ||
| Head circumference in the clinical detection of PTEN hamartoma tumor syndrome in a clinic population at high-risk of breast cancer. | Q51776585 | ||
| Localization of the gene for Cowden disease to chromosome 10q22–23 | Q57694734 | ||
| Small changes in expression affect predisposition to tumorigenesis | Q59115695 | ||
| Bannayan-Riley-Ruvalcaba syndrome | Q67509446 | ||
| Oral exophytic lesions in 23,616 white Americans over 35 years of age | Q68735438 | ||
| Soft-tissue vascular anomalies: utility of US for diagnosis | Q73543613 | ||
| Comparison of the UCLA Integrated Staging System and the Leibovich score in survival prediction for patients with nonmetastatic clear cell renal cell carcinoma | Q82292826 | ||
| PTEN mutations and proteus syndrome | Q94033323 | ||
| P433 | issue | 1 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | patient | Q181600 |
| P304 | page(s) | 42-56 | |
| P577 | publication date | 2010-12-30 | |
| P1433 | published in | American Journal of Human Genetics | Q4744249 |
| P1476 | title | A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands | |
| P478 | volume | 88 |
| Q92214302 | A Pilot Study of Sirolimus in Subjects with Cowden Syndrome or Other Syndromes Characterized by Germline Mutations in PTEN |
| Q60959667 | A case report of hamartomatous polyposis in an individual with Neurofibromatosis type 1 |
| Q24320313 | A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes |
| Q36763145 | A recessive form of extreme macrocephaly and mild intellectual disability complements the spectrum of PTEN hamartoma tumour syndrome |
| Q101409818 | Alternative splicing landscape of the neural transcriptome in a cytoplasmic-predominant Pten expression murine model of autism-like Behavior |
| Q30416965 | American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers |
| Q36887088 | An unusual case of Cowden syndrome associated with ganglioneuromatous polyposis |
| Q22337253 | Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model |
| Q26822064 | Balancing Proliferation and Connectivity in PTEN-associated Autism Spectrum Disorder |
| Q40776893 | Bannayan Ruvalcaba Riley Syndrome |
| Q37493061 | Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly |
| Q36963403 | Breast cancer in the young: role of the geneticist |
| Q38677932 | Breast cancer risk and clinical implications for germline PTEN mutation carriers |
| Q47963126 | Broad spectrum of neuropsychiatric phenotypes associated with white matter disease in PTEN hamartoma tumor syndrome |
| Q46837367 | Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndrome |
| Q36870453 | Cancer-predisposition gene KLLN maintains pericentric H3K9 trimethylation protecting genomic stability |
| Q54904169 | Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations. |
| Q42739658 | Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome |
| Q48014444 | Circulating levels of PTEN and KLLN in papillary thyroid carcinoma: can they be considered as novel diagnostic biomarkers? |
| Q35204410 | Clinical and molecular heterogeneity in brazilian patients with sotos syndrome |
| Q37640770 | Cognitive characteristics of PTEN hamartoma tumor syndromes |
| Q35251499 | Communicating with biobank participants: preferences for receiving and providing updates to researchers |
| Q90047400 | Conformational Dynamics and Allosteric Regulation Landscapes of Germline PTEN Mutations Associated with Autism Compared to Those Associated with Cancer |
| Q61447358 | Constitutional mislocalization of Pten drives precocious maturation in oligodendrocytes and aberrant myelination in model of autism spectrum disorder |
| Q89465058 | Copy Number Variation and Clinical Outcomes in Patients With Germline PTEN Mutations |
| Q39019486 | Cowden Syndrome: Serendipitous Diagnosis in Patients with Significant Breast Disease. Case Series and Literature Review |
| Q84877384 | Cowden syndrome |
| Q86809383 | Cowden syndrome |
| Q38153670 | Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria |
| Q34673451 | Cowden syndrome-associated germline SDHD variants alter PTEN nuclear translocation through SRC-induced PTEN oxidation |
| Q33561627 | Cowden syndrome-associated germline succinate dehydrogenase complex subunit D (SDHD) variants cause PTEN-mediated down-regulation of autophagy in thyroid cancer cells |
| Q36847305 | Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity |
| Q38240785 | Cowden syndrome: recognizing and managing a not-so-rare hereditary cancer syndrome |
| Q89702006 | Cytoplasmic-predominant Pten increases microglial activation and synaptic pruning in a murine model with autism-like phenotype |
| Q35916640 | Detecting Germline PTEN Mutations Among At-Risk Patients With Cancer: An Age- and Sex-Specific Cost-Effectiveness Analysis |
| Q36303429 | Diagnostic Approach to Hereditary Colorectal Cancer Syndromes |
| Q90351367 | Distinct Alterations in Tricarboxylic Acid Cycle Metabolites Associate with Cancer and Autism Phenotypes in Cowden Syndrome and Bannayan-Riley-Ruvalcaba Syndrome |
| Q53829615 | Dynamics and structural stability effects of germline PTEN mutations associated with cancer versus autism phenotypes. |
| Q33606551 | Elevated plasma succinate in PTEN, SDHB, and SDHD mutation-positive individuals |
| Q30234614 | Endometrial cancer gene panels: clinical diagnostic vs research germline DNA testing |
| Q35164689 | Esophageal cancer in a family with hamartomatous tumors and germline PTEN frameshift and SMAD7 missense mutations |
| Q36837037 | Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome |
| Q37416668 | Exome sequencing reveals germline gain-of-function EGFR mutation in an adult with Lhermitte-Duclos disease. |
| Q83553928 | Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders |
| Q34292368 | Familial colon cancer syndromes: an update of a rapidly evolving field |
| Q61808147 | Follicular thyroid carcinoma metastatic to skin: a small papule and a big diagnostic change |
| Q57455573 | Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel |
| Q26741013 | Genetic basis of Cowden syndrome and its implications for clinical practice and risk management |
| Q36849670 | Genetic evaluation and testing for hereditary forms of cancer in the era of next-generation sequencing |
| Q34008801 | Genetic predisposition to colorectal cancer: where we stand and future perspectives |
| Q30513982 | Genetics, genomics, and cancer risk assessment: State of the Art and Future Directions in the Era of Personalized Medicine |
| Q36819971 | Genodermatosis Affecting the Skin and Mucosa of the Head and Neck: Clinicopathologic, Genetic, and Molecular Aspect--PTEN-Hamartoma Tumor Syndrome/Cowden Syndrome |
| Q92873349 | Genome sequencing analysis of a family with a child displaying severe abdominal distention and recurrent hypoglycemia |
| Q28115011 | Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer |
| Q35877211 | Germline PARP4 mutations in patients with primary thyroid and breast cancers |
| Q42685048 | Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes |
| Q34321254 | Germline PTEN mutation Cowden syndrome: an underappreciated form of hereditary kidney cancer |
| Q35118789 | Germline PTEN, SDHB-D, and KLLN alterations in endometrial cancer patients with Cowden and Cowden-like syndromes: an international, multicenter, prospective study |
| Q35747115 | Germline SDHx variants modify breast and thyroid cancer risks in Cowden and Cowden-like syndrome via FAD/NAD-dependant destabilization of p53. |
| Q33570103 | Germline alterations in RASAL1 in Cowden syndrome patients presenting with follicular thyroid cancer and in individuals with apparently sporadic epithelial thyroid cancer |
| Q37380558 | Germline and somatic KLLN alterations in breast cancer dysregulate G2 arrest |
| Q37701988 | Germline compound heterozygous poly-glutamine deletion in USF3 may be involved in predisposition to heritable and sporadic epithelial thyroid carcinoma |
| Q33649301 | Germline disruption of Pten localization causes enhanced sex-dependent social motivation and increased glial production |
| Q26783700 | Gingival enlargements: Differential diagnosis and review of literature |
| Q28085485 | Hereditary Syndromes Manifesting as Endometrial Carcinoma: How Can Pathological Features Aid Risk Assessment? |
| Q41107963 | Hereditary breast cancer associated with Cowden syndrome-related PTEN mutation with Lhermitte-Duclos disease. |
| Q38266306 | Hereditary breast cancer syndromes and genetic testing |
| Q34507839 | Hereditary cancer risk assessment: essential tools for a better approach |
| Q52334523 | Identification of a PTEN mutation with reduced protein stability, phosphatase activity, and nuclear localization in Hong Kong patients with autistic features, neurodevelopmental delays, and macrocephaly. |
| Q36304955 | Identification, genetic testing, and management of hereditary melanoma. |
| Q37626146 | Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells |
| Q35597950 | Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations |
| Q44175657 | Incidence, clinical features and possible etiology of early onset (≤40 years) colorectal neoplasms |
| Q34030947 | Increased prevalence of eosinophilic gastrointestinal disorders in pediatric PTEN hamartoma tumor syndromes |
| Q90448698 | Infantile macrocephaly and multiple subcutaneous lipomas diagnosed with PTEN hamartoma tumor syndrome: A case report |
| Q26772947 | Inherited PTEN mutations and the prediction of phenotype |
| Q54996503 | Inherited predisposition to endometrial cancer: Moving beyond Lynch syndrome |
| Q50996865 | Insertion of Alu elements at a PTEN hotspot in Cowden syndrome. |
| Q47387678 | Intramucosal lipomas of the colon implicate Cowden syndrome |
| Q38213961 | Introduction: Brain malformations |
| Q36184627 | KLLN epigenotype-phenotype associations in Cowden syndrome. |
| Q57590598 | KLLN-mediated DNA damage-induced apoptosis is associated with regulation of p53 phosphorylation and acetylation in breast cancer cells |
| Q39110230 | Lhermitte-Duclos disease associated to Cowden syndrome: de novo diagnosis and management of these extremely rare syndromes in a patient. |
| Q35681689 | Lifetime cancer risks in individuals with germline PTEN mutations. |
| Q38216932 | Megalencephaly and hemimegalencephaly: breakthroughs in molecular etiology |
| Q36237392 | Molecular Features and Methylation Status in Early Onset (≤40 Years) Colorectal Cancer: A Population Based, Case-Control Study. |
| Q38695594 | Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities |
| Q35304904 | Molecular and phenotypic abnormalities in individuals with germline heterozygous PTEN mutations and autism |
| Q51155217 | Mosaic partial deletion of the PTEN gene in a patient with Cowden syndrome. |
| Q36094339 | Multi-organ benign and malignant tumors: recognizing Cowden syndrome: a case report and review of the literature |
| Q48300140 | Multiple keratotic papules and plaques on the trunk in Cowden's disease with MALT lymphoma |
| Q36048195 | Neural transcriptome of constitutional Pten dysfunction in mice and its relevance to human idiopathic autism spectrum disorder |
| Q90597792 | Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN |
| Q33570568 | Neuroendocrine Tumor of the Pancreas as a Manifestation of Cowden Syndrome: A Case Report |
| Q51282591 | New mutation in the PTEN gene in a Brazilian patient with Cowden's syndrome. |
| Q92879774 | PTEN Hamartoma Tumor Syndrome: A Clinical Overview |
| Q92459709 | PTEN arginine methylation by PRMT6 suppresses PI3K-AKT signaling and modulates pre-mRNA splicing |
| Q37247172 | PTEN germline mutations in patients initially tested for other hereditary cancer syndromes: would use of risk assessment tools reduce genetic testing? |
| Q36008552 | PTEN hamartoma of soft tissue: a distinctive lesion in PTEN syndromes |
| Q38280809 | PTEN hamartoma tumor syndrome: clinical risk assessment and management protocol |
| Q45639803 | PTEN in colorectal cancer: a report on two Cowden syndrome patients |
| Q39337669 | PTEN inactivation by germline/somatic c.950_953delTACT mutation in patients with Lhermitte-Duclos disease manifesting progressive phenotypes |
| Q57590678 | PTENhamartoma tumor syndrome and Gorham-Stout phenomenon |
| Q57590681 | PTENmutations: help spot thyroid cancer before it occurs |
| Q35925866 | Papillary renal cell carcinoma is associated with PTEN hamartoma tumor syndrome |
| Q92127715 | Phenotype-Driven Diagnostic of PTEN Hamartoma Tumor Syndrome: Macrocephaly, But Neither Height nor Weight Development, Is the Important Trait in Children |
| Q64054064 | Portrait of a cancer: mutational signature analyses for cancer diagnostics |
| Q48288066 | Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families. |
| Q88020952 | RE: Cowden syndrome and PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria |
| Q33691512 | Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations. |
| Q24608709 | Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome |
| Q91623032 | Spectrum of gastrointestinal tract pathology in a multicenter cohort of 43 Cowden syndrome patients |
| Q36353750 | Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms |
| Q51298108 | The clinical consequences of hemizygosity across 2 MB of 10q23 are restricted to Cowden syndrome. |
| Q36158532 | The differential diagnosis of familial lentiginosis syndromes |
| Q41233466 | The effect of rapamycin, NVP-BEZ235, aspirin, and metformin on PI3K/AKT/mTOR signaling pathway of PIK3CA-related overgrowth spectrum (PROS). |
| Q88955683 | The functions and regulation of the PTEN tumour suppressor: new modes and prospects |
| Q54302233 | The growing complexity of the intestinal polyposis syndromes. |
| Q49868272 | The microbiome in PTEN hamartoma tumor syndrome |
| Q52312700 | Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations. |
| Q36002740 | Upper and Lower Gastrointestinal Findings in PTEN Mutation-Positive Cowden Syndrome Patients Participating in an Active Surveillance Program |
| Q36442445 | Utility of PTEN protein dosage in predicting for underlying germline PTEN mutations among patients presenting with thyroid cancer and Cowden-like phenotypes |
| Q46063789 | Uveal Ganglioneuroma due to Germline PTEN Mutation (Cowden Syndrome) Presenting as Unilateral Infantile Glaucoma |
| Q36243575 | Vitamin E protects against lipid peroxidation and rescues tumorigenic phenotypes in cowden/cowden-like patient-derived lymphoblast cells with germline SDHx variants |
| Q38098152 | When Overgrowth Bumps Into Cancer: The PTEN-Opathies |
| Q51046620 | When overgrowth bumps into cancer: the PTEN-opathies. |
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