| scholarly article | Q13442814 |
| P356 | DOI | 10.1093/JNCI/DJT277 |
| P698 | PubMed publication ID | 24136893 |
| P50 | author | Robert Pilarski | Q92879769 |
| P2093 | author name string | Elizabeth Swisher | |
| Kristen M Shannon | |||
| Randall Burt | |||
| Lana Pho | |||
| Wendy Kohlman | |||
| P2860 | cites work | Cancer and Lhermitte-Duclos disease are common in Cowden syndrome patients | Q21198716 |
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| A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands | Q24606333 | ||
| 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: revised diagnostic criteria | Q24681567 | ||
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| Management of breast fibroadenomas | Q30499532 | ||
| Persistent Tn polyagglutination syndrome during febrile neutropenia: a case report and review of the literature | Q33393659 | ||
| Cowden syndrome | Q33675760 | ||
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| Germline Inactivation of PTEN and Dysregulation of the Phosphoinositol-3-Kinase/Akt Pathway Cause Human Lhermitte-Duclos Disease in Adults | Q33905657 | ||
| High cumulative incidence of uterine leiomyoma in black and white women: ultrasound evidence | Q33963976 | ||
| Hypospadias trends in two US surveillance systems | Q34065376 | ||
| Cowden disease and Lhermitte-Duclos disease: an update. Case report and review of the literature | Q34491611 | ||
| PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome | Q34504165 | ||
| Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers | Q34579796 | ||
| Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. | Q34742581 | ||
| Epidemiology of thyroid nodules | Q34890843 | ||
| Frequency of germline PTEN mutations in differentiated thyroid cancer | Q34975154 | ||
| Management of intraductal papillomas of the breast: an analysis of 129 cases and their outcome | Q34984158 | ||
| Colonic polyposis and neoplasia in Cowden syndrome. | Q35016250 | ||
| The role of MMAC1 mutations in early-onset breast cancer: causative in association with Cowden syndrome and excluded in BRCA1-negative cases. | Q35250021 | ||
| Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis | Q35250337 | ||
| The prevalence of congenital uterine anomalies in unselected and high-risk populations: a systematic review | Q35328251 | ||
| Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases. | Q35566202 | ||
| 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 | Q35597950 | ||
| Lifetime cancer risks in individuals with germline PTEN mutations. | Q35681689 | ||
| Are there predictors of malignancy in patients with multinodular goiter? | Q35881874 | ||
| Upper and Lower Gastrointestinal Findings in PTEN Mutation-Positive Cowden Syndrome Patients Participating in an Active Surveillance Program | Q36002740 | ||
| Storiform collagenoma as a clue for Cowden disease or PTEN hamartoma tumour syndrome | Q36017160 | ||
| The hamartomatous polyposis syndromes: a clinical and molecular review | Q36018533 | ||
| Mucocutaneous neuromas: an underrecognized manifestation of PTEN hamartoma-tumor syndrome | Q36479759 | ||
| Underestimation of the presence of breast carcinoma in papillary lesions initially diagnosed at core-needle biopsy | Q36647563 | ||
| Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers | Q36839671 | ||
| Breast papillomas in the era of percutaneous needle biopsy | Q36840754 | ||
| Cowden syndrome: a critical review of the clinical literature | Q37313091 | ||
| Phosphatase and tensin homolog (PTEN) gene mutations and autism: literature review and a case report of a patient with Cowden syndrome, autistic disorder, and epilepsy | Q37940955 | ||
| Colonic ganglioneuromatous polyposis and metastatic adenocarcinoma in the setting of Cowden syndrome: a case report and literature review | Q37948361 | ||
| Hashimoto thyroiditis: a century later | Q38002266 | ||
| Cowden's disease (multiple hamartoma and neoplasia syndrome). A case report and review of the English literature | Q40272335 | ||
| Cowden's disease: analysis of fourteen new cases | Q41410446 | ||
| The dermatopathology of Cowden's syndrome* | Q41724692 | ||
| Genital lentiginosis: a clinical and histopathologic study | Q42483892 | ||
| Arteriovenous malformations in Cowden syndrome | Q42999288 | ||
| The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome | Q43075651 | ||
| The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management | Q43232449 | ||
| High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome | Q44636065 | ||
| Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation | Q45345194 | ||
| Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features | Q46077160 | ||
| Testicular lipomatosis in Cowden's syndrome | Q46513901 | ||
| Skin abnormalities in individuals with macrocephaly: Cowden disease from a dermatologist's point of view | Q48828713 | ||
| Brain magnetic resonance imaging in patients with Cowden syndrome | Q48974595 | ||
| A case of Cowden's syndrome presenting with gastric carcinomas and gastrointestinal polyposis | Q50180967 | ||
| Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly | Q50303516 | ||
| Should patients with Cowden syndrome undergo prophylactic thyroidectomy? | Q50303885 | ||
| The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly | Q50342128 | ||
| Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly. | Q51995061 | ||
| Evaluation of germline PTEN mutations in endometrial cancer patients | Q56928438 | ||
| GI polyposis and glycogenic acanthosis of the esophagus associated with PTEN mutation positive Cowden syndrome in the absence of cutaneous manifestations | Q57591191 | ||
| Ultrasound mass screening for congenital anomalies of the kidney and urinary tract | Q57643947 | ||
| Localization of the gene for Cowden disease to chromosome 10q22–23 | Q57694734 | ||
| Variation in the Incidence of Uterine Leiomyoma Among Premenopausal Women by Age and Race | Q57751559 | ||
| Double primary cancers of the breast and thyroid in women: molecular analysis and genetic implications | Q59238491 | ||
| P433 | issue | 21 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | hamartoma | Q525075 |
| systematic review | Q1504425 | ||
| diagnosis | Q16644043 | ||
| P304 | page(s) | 1607-1616 | |
| P577 | publication date | 2013-10-17 | |
| P1433 | published in | Journal of the National Cancer Institute | Q400279 |
| P1476 | title | Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria | |
| P478 | volume | 105 |
| Q38558068 | A case of Bannayan-Riley-Ruvalcaba syndrome. A new clinical finding and brief review. |
| Q47935517 | A novel PTEN mutation associated with colonic ganglioneuromatous polyps |
| Q35086943 | A novel deleterious PTEN mutation in a patient with early-onset bilateral breast cancer |
| Q38267932 | A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. |
| Q36763145 | A recessive form of extreme macrocephaly and mild intellectual disability complements the spectrum of PTEN hamartoma tumour syndrome |
| Q39097827 | An Overview of Autosomal Dominant Tumour Syndromes with Prominent Features in the Oral and Maxillofacial Region. |
| Q36887088 | An unusual case of Cowden syndrome associated with ganglioneuromatous polyposis |
| Q92764838 | Antitumor activity of celastrol by inhibition of proliferation, invasion, and migration in cholangiocarcinoma via PTEN/PI3K/Akt pathway |
| Q52661117 | Association of sporadic and familial Barrett's esophagus with breast cancer. |
| Q28086785 | Autophagy in thyroid cancer: present knowledge and future perspectives |
| Q26770472 | Benign follicular tumors |
| Q36945958 | Bi-pedicle nipple-sparing mastectomy (modified Letterman technique) and TIGR mesh-assisted immediate implant reconstruction, in a patient with Cowden syndrome |
| Q92579904 | Bilateral Recurrent Dysplastic Cerebellar Gangliocytoma (Lhermitte-Duclos Disease) in Cowden Syndrome: A Case Report and Literature Review |
| Q54011680 | Clinical Behavior and Treatment of Endometrial Cancer. |
| Q89537965 | Clinical and Molecular Investigation of Familial Multiple Lipomatosis: Variants in the HMGA2 Gene |
| Q38197938 | Clinical applications of melanoma genetics. |
| Q34481443 | Connection between Tumor Suppressor BRCA1 and PTEN in Damaged DNA Repair |
| Q42223786 | Cowden Syndrome Detected by FDG PET/CT in an Endometrial Cancer Patient |
| Q43106595 | Cowden Syndrome and Concomitant Pulmonary Neuroendocrine Tumor: A Presentation of Two Cases |
| Q39019486 | Cowden Syndrome: Serendipitous Diagnosis in Patients with Significant Breast Disease. Case Series and Literature Review |
| Q26749000 | Cutaneous manifestation of gastrointestinal disease |
| Q98298762 | De novo cavernoma formation in a patient with Cowden syndrome and Lhermitte-Duclos disease |
| Q55005737 | Diffuse Gastric Ganglioneuromatosis: Novel Presentation of PTEN Hamartoma Syndrome-Case Report and Review of Gastric Ganglioneuromatous Proliferations and a Novel PTEN Gene Mutation. |
| Q57646614 | Early Onset Multiple Primary Tumors in Atypical Presentation of Cowden Syndrome Identified by Whole-Exome-Sequencing |
| Q91168616 | Effect of PTEN inactivating germline mutations on innate immune cell function and thyroid cancer-induced macrophages in patients with PTEN hamartoma tumor syndrome |
| Q41669850 | Expanded Gene Panel Use for Women With Breast Cancer: Identification and Intervention Beyond Breast Cancer Risk |
| Q35600539 | Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of DICER1 cause GLOW syndrome. |
| Q34899259 | Fate and plasticity of the epidermis in response to congenital activation of BRAF. |
| Q88302062 | Female Pelvic Vascular Malformations |
| Q42374963 | Fibroblastic Polyps: A Novel Polyp Subtype in Cowden Syndrome |
| Q35048620 | Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes |
| Q26747800 | Gastric Hamartomatous Polyps-Review and Update |
| 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 |
| Q38261984 | Genetic predisposition for nonmedullary thyroid cancer |
| Q36819971 | Genodermatosis Affecting the Skin and Mucosa of the Head and Neck: Clinicopathologic, Genetic, and Molecular Aspect--PTEN-Hamartoma Tumor Syndrome/Cowden Syndrome |
| Q64067741 | Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing |
| Q55689982 | Genomic Deletion at 10q23 in Prostate Cancer: More Than PTEN Loss? |
| Q42619703 | Germline multi-gene hereditary cancer panel testing in an unselected endometrial cancer cohort |
| Q55006201 | Hamartoma-like lesions in the mouse retina: an animal model of Pten hamartoma tumour syndrome. |
| Q26775636 | Hamartomatous Tumors in the Gastrointestinal Tract |
| Q21202845 | Hamartomatous polyposis syndromes: a review |
| Q88716106 | Hereditary Colorectal Polyposis and Cancer Syndromes: A Primer on Diagnosis and Management |
| Q48120117 | Hereditary and familial thyroid tumours |
| Q38266306 | Hereditary breast cancer syndromes and genetic testing |
| Q36599690 | Hereditary melanoma: Update on syndromes and management: Emerging melanoma cancer complexes and genetic counseling |
| Q47102025 | Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism. |
| Q48258664 | Inherited Cancer in the Age of Next-Generation Sequencing |
| Q26772947 | Inherited PTEN mutations and the prediction of phenotype |
| Q54996503 | Inherited predisposition to endometrial cancer: Moving beyond Lynch syndrome |
| Q47387678 | Intramucosal lipomas of the colon implicate Cowden syndrome |
| Q90649323 | Isoform-selective phosphoinositide 3-kinase inhibition ameliorates a broad range of fragile X syndrome-associated deficits in a mouse model |
| Q47899152 | Lhermitte-Duclos Disease (Dysplastic Gangliocytoma of the Cerebellum) and Cowden Syndrome: Clinical Experience From a Single Institution with Long-Term Follow-Up |
| Q47974110 | Linear trichilemmomas on the ankle of a 28-year-old female |
| Q26829349 | Management Guidelines for Children with Thyroid Nodules and Differentiated Thyroid Cancer |
| Q39021335 | Mosaic Disorders of the PI3K/PTEN/AKT/TSC/mTORC1 Signaling Pathway |
| Q51155217 | Mosaic partial deletion of the PTEN gene in a patient with Cowden syndrome. |
| Q90139197 | Mosaicism in Patients With Colorectal Cancer or Polyposis Syndromes: a Systematic Review |
| Q46519139 | Mucocutaneous manifestations of Cowden's syndrome |
| Q36094339 | Multi-organ benign and malignant tumors: recognizing Cowden syndrome: a case report and review of the literature |
| Q30375908 | Multiple Meningiomas in a Patient with Cowden Syndrome. |
| Q38221583 | Multiple primary cancers as a guide to heritability |
| Q54428020 | Multiple sclerotic fibromas of the skin: an important clue for the diagnosis of Cowden syndrome. |
| Q26774506 | Ménétrier's Disease: Its Mimickers and Pathogenesis |
| Q33570568 | Neuroendocrine Tumor of the Pancreas as a Manifestation of Cowden Syndrome: A Case Report |
| Q36032452 | Noncatalytic PTEN missense mutation predisposes to organ-selective cancer development in vivo |
| Q54979591 | Nuclear PTEN deficiency causes microcephaly with decreased neuronal soma size and increased seizure susceptibility. |
| Q92179836 | Overgrowth syndromes - clinical and molecular aspects and tumour risk |
| Q30300538 | PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia |
| Q59799655 | PTEN Hamartoma Tumor Syndrome and Immune Dysregulation |
| Q92879774 | PTEN Hamartoma Tumor Syndrome: A Clinical Overview |
| Q38684295 | Pathology and Genetics of Syndromic Gastric Polyps |
| Q92127715 | Phenotype-Driven Diagnostic of PTEN Hamartoma Tumor Syndrome: Macrocephaly, But Neither Height nor Weight Development, Is the Important Trait in Children |
| Q35642017 | Premalignant alterations in breast and endometrium associated with a PTEN mutation in a woman with Cowden syndrome: implications for preventive care |
| Q38372278 | Primary Benign and Malignant Thyroid Neoplasms With Signet Ring Cells: Cytologic, Histologic, and Molecular Features. |
| Q38811268 | Proliferative lesion of anogenital mammary-like glands in the setting of Cowden syndrome: case report and review of the literature |
| Q88020952 | RE: Cowden syndrome and PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria |
| Q39285469 | Role of aberrant PI3K pathway activation in gallbladder tumorigenesis |
| Q35167887 | Screening for germline phosphatase and tensin homolog-mutations in suspected Cowden syndrome and Cowden syndrome-like families among uterine cancer patients |
| Q98177853 | Secondary Prevention in Hereditary Breast and/or Ovarian Cancer Syndromes Other Than BRCA |
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| Q57493543 | Spinal Extradural Arteriovenous Fistula with Cowden Syndrome: A Case Report and Literature Review Regarding Pathogenesis and Therapeutic Strategy |
| Q27022790 | Subcellular targeting and dynamic regulation of PTEN: implications for neuronal cells and neurological disorders |
| Q53103457 | Synchronous and Metastatic Papillary and Follicular Thyroid Carcinomas with Unique Molecular Signatures. |
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