Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome
about
Cancer and Lhermitte-Duclos disease are common in Cowden syndrome patientsAnalysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine modelA clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probandsSimilar MR imaging characteristics but different pathological changes: a misdiagnosis for Lhermitte-Duclos disease and review of the literatureColonic manifestations of PTEN hamartoma tumor syndrome: case series and systematic reviewNeurocutaneous Manifestations of Genetic MosaicismHereditary Syndromes Manifesting as Endometrial Carcinoma: How Can Pathological Features Aid Risk Assessment?Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid CancerAnnual Research Review: Transgenic mouse models of childhood-onset psychiatric disorders.Neuroendocrine Tumor of the Pancreas as a Manifestation of Cowden Syndrome: A Case ReportSecond malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.Germline PTEN mutations are rare and highly penetrantClinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessmentMultiple primary malignancies and subtle mucocutaneous lesions associated with a novel PTEN gene mutation in a patient with Cowden syndrome: case reportConvergence of hormones, inflammation, and energy-related factors: a novel pathway of cancer etiology.Increased prevalence of eosinophilic gastrointestinal disorders in pediatric PTEN hamartoma tumor syndromesGenetic variation in a metabolic signaling pathway and colon and rectal cancer risk: mTOR, PTEN, STK11, RPKAA1, PRKAG2, TSC1, TSC2, PI3K and Akt1.Beta catenin and cytokine pathway dysregulation in patients with manifestations of the "PTEN hamartoma tumor syndrome"Germline PTEN mutation Cowden syndrome: an underappreciated form of hereditary kidney cancer.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.Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes.Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.Juvenile polyposis syndrome.The neurobiology of autism.Germline and somatic SDHx alterations in apparently sporadic differentiated thyroid cancer.NHERFs, NEP, MAGUKs, and more: interactions that regulate PTEN.Genetics of skin appendage neoplasms and related syndromes.Lifetime cancer risks in individuals with germline PTEN mutations.Lifelong accumulation of bone in mice lacking Pten in osteoblastsEpigenetics of kidney cancer and bladder cancer.Missense mutation in the PTEN promoter of a patient with hemifacial hyperplasia.Papillary renal cell carcinoma is associated with PTEN hamartoma tumor syndromeEpidemiological and genetic clues for molecular mechanisms involved in uterine leiomyoma development and growth.Dysphagia and Neck Swelling in a Case of Undiagnosed Lhermitte-Duclos Disease and Cowden Syndrome.Lhermitte-Duclos disease: a report of 31 cases with immunohistochemical analysis of the PTEN/AKT/mTOR pathway.The genomics and genetics of endometrial cancer.ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromesCowden syndrome-affected patients with PTEN promoter mutations demonstrate abnormal protein translation.Utility of PTEN protein dosage in predicting for underlying germline PTEN mutations among patients presenting with thyroid cancer and Cowden-like phenotypesCancer-associated genodermatoses: a personal history.
P2860
Q21198716-86526649-EC16-423F-A609-E036E2E2A58EQ22337253-C6E29549-63A1-45FA-A273-1A9E8F2670E7Q24606333-E846F64B-B203-4664-B8EA-6E732F91E250Q26799487-4BBC4DA6-EA72-46AE-82FC-9BF0769D224AQ27014192-E974CC7D-85A2-4E0E-B8B5-391B51D9FF42Q28070020-F238302E-B78F-401D-BD33-45DB806F6A52Q28085485-58A3AF3D-4FD8-4FA8-BAF8-82A98985EC70Q28115011-78C5BF7A-774A-46C6-B4B6-E4B7A9F36BCAQ30469044-62A5B145-2A33-4874-8E1C-2937A5236D18Q33570568-F9A37719-D2C3-4EE3-A561-4D9ED618E407Q33691512-F3F1E9BD-70A7-4134-B487-47A133BE44F2Q33722586-4B9A38A2-461F-4320-9CEC-5E2642E19596Q33796155-E73BF52C-CFFE-401E-ADE0-1007B451CFB9Q33846690-3685F40D-3938-4212-A0AB-C2D6A9F1DD8BQ33954537-FDD29755-02AF-49AE-9AB3-E4EDDC9A8657Q34030947-38BDDCD0-AA53-4051-A68C-78B76A0F39C8Q34094993-73C080BB-CE96-42CC-8E79-4AD227764FA4Q34240789-06266953-85CA-4C1B-A51B-39BEC918A5F1Q34321254-3B19824B-D04A-4864-8057-240D07F19D78Q34579796-EB2DE151-CE78-4209-B1A8-8D73599F35B2Q34658313-32521085-8633-4A4C-BBA7-E1FD88257CD3Q34658356-C88115E0-54D8-454B-BAE8-741AFA5A46B6Q34663796-EDB97534-2416-41A1-9FC1-157332AA1D37Q34699035-57B9F7BC-7484-47A5-8AE6-E6490061E939Q35104084-B6865CC4-6AEC-4245-9A84-97232BAB8F2AQ35256204-A2E135F4-79A0-40BC-9CBE-4E0A5E2EDDBEQ35447362-96683A1C-A86B-41A1-AC5F-D445434B141AQ35681689-8765CEC1-59C0-48E2-BAEF-1285A1184697Q35844528-99AC7393-B687-4553-9B07-093343DA4825Q35857807-BA1EA14B-015C-44F9-81AB-0F94ECEED799Q35903855-522F3506-2D1F-46DD-9552-D6EB6C634E40Q35925866-A6FB35B8-6391-4E5F-AE0D-6B373142290EQ35944399-E41BF801-49AE-457D-A510-E85C762D8BE5Q36089140-15A2A2BE-53D3-483C-9259-828560788245Q36100341-4B245819-0FC2-4A9A-98F0-3FA125B6B6EFQ36151896-F01D86FE-F6F3-4D88-8DF1-AFC62FAFFC7BQ36416282-755AF389-5F55-4C64-9078-A1D9D8D2F41CQ36430799-9CB484D3-17FB-4BD5-9624-10BBE96E9242Q36442445-E43DC0EF-A830-42A5-BEA7-0BCBEA603E3EQ36553683-BCFCC26F-46F0-468B-853B-AAF0B8823C2B
P2860
Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome
description
2004 nî lūn-bûn
@nan
2004 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Will the real Cowden syndrome ...... PTEN hamartoma tumour syndrome
@ast
Will the real Cowden syndrome ...... PTEN hamartoma tumour syndrome
@en
Will the real Cowden syndrome ...... PTEN hamartoma tumour syndrome
@nl
type
label
Will the real Cowden syndrome ...... PTEN hamartoma tumour syndrome
@ast
Will the real Cowden syndrome ...... PTEN hamartoma tumour syndrome
@en
Will the real Cowden syndrome ...... PTEN hamartoma tumour syndrome
@nl
prefLabel
Will the real Cowden syndrome ...... PTEN hamartoma tumour syndrome
@ast
Will the real Cowden syndrome ...... PTEN hamartoma tumour syndrome
@en
Will the real Cowden syndrome ...... PTEN hamartoma tumour syndrome
@nl
P356
P1476
Will the real Cowden syndrome ...... PTEN hamartoma tumour syndrome
@en
P2093
P356
10.1136/JMG.2004.018036
P407
P577
2004-05-01T00:00:00Z