scholarly article | Q13442814 |
P356 | DOI | 10.1002/9780470893159.CH44 |
P50 | author | Charis Eng | Q37385393 |
P2093 | author name string | Emily Edelman | |
P2860 | cites work | P-TEN, the tumor suppressor from human chromosome 10q23, is a dual-specificity phosphatase | Q24322705 |
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 | ||
Protean PTEN: form and function | Q24613810 | ||
Germline mutation of the tumour suppressor PTEN in Proteus syndrome | Q24672675 | ||
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 | ||
Crystal structure of the PTEN tumor suppressor: implications for its phosphoinositide phosphatase activity and membrane association | Q27620298 | ||
Enhanced sensitivity of PTEN-deficient tumors to inhibition of FRAP/mTOR. | Q27824772 | ||
A serine/threonine kinase gene defective in Peutz-Jeghers syndrome | Q28119198 | ||
Altered PTEN expression as a diagnostic marker for the earliest endometrial precancers | Q28145813 | ||
Cowden's disease. A possible new symptom complex with multiple system involvement | Q28189705 | ||
PTEN: one gene, many syndromes | Q28203387 | ||
Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase | Q28258611 | ||
Clinical and pathological features of breast disease in Cowden's syndrome: an underrecognized syndrome with an increased risk of breast cancer | Q28260081 | ||
Macrocephaly with multiple lipomas and hemangiomas | Q28269372 | ||
Cancer phenomics: RET and PTEN as illustrative models | Q28278854 | ||
Rapamycin causes regression of astrocytomas in tuberous sclerosis complex | Q28295149 | ||
American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography | Q28295438 | ||
Male breast cancer in Cowden syndrome patients with germline PTEN mutations | Q28359884 | ||
Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome | Q29615538 | ||
Cowden disease and Lhermitte-Duclos disease: characterization of a new phakomatosis | Q31533805 | ||
Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation | Q33653132 | ||
Cowden syndrome and Lhermitte-Duclos disease in a family: a single genetic syndrome with pleiotropy? | Q33674349 | ||
Germline PTEN mutations in Cowden syndrome-like families. | Q33681468 | ||
Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype | Q33681476 | ||
Germline Inactivation of PTEN and Dysregulation of the Phosphoinositol-3-Kinase/Akt Pathway Cause Human Lhermitte-Duclos Disease in Adults | Q33905657 | ||
Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis | Q34009330 | ||
Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes | Q34020502 | ||
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome | Q34504165 | ||
Hamartomatous polyposis syndromes. | Q34582357 | ||
Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes | Q34658313 | ||
Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. | Q34658356 | ||
Macrocephaly with hamartomas: Bannayan-Zonana syndrome | Q34710839 | ||
Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. | Q34742581 | ||
PTEN hamartoma tumor syndromes. | Q34824223 | ||
American Society of Clinical Oncology Policy Statement Update: Genetic Testing for Cancer Susceptibility | Q35105968 | ||
Lhermitte-Duclos disease and Cowden disease: clinical and genetic study in five patients with Lhermitte-Duclos disease and literature review. | Q35805511 | ||
Cutaneous manifestations of proteus syndrome: correlations with general clinical severity | Q35864499 | ||
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 | ||
Genetic testing in autism: how much is enough? | Q36823411 | ||
Genetic and phenotypic heterogeneity in the PTEN hamartoma tumour syndrome. | Q37270416 | ||
Comparative genomic and functional analyses reveal a novel cis-acting PTEN regulatory element as a highly conserved functional E-box motif deleted in Cowden syndrome | Q38304010 | ||
The proteus syndrome. Partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly or other skull anomalies and possible accelerated growth and visceral affections | Q40273172 | ||
The hamartomatous polyposis syndromes: clinical and radiologic features | Q40597896 | ||
Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis | Q40770781 | ||
Mutation-positive and mutation-negative patients with Cowden and Bannayan-Riley-Ruvalcaba syndromes associated with distinct 10q haplotypes | Q41078007 | ||
The dermatopathology of Cowden's syndrome* | Q41724692 | ||
PTEN mutations are uncommon in Proteus syndrome. | Q43045274 | ||
The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management | Q43232449 | ||
Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation | Q45345194 | ||
Mutations in the SMAD4/DPC4 gene in juvenile polyposis | Q45345229 | ||
Germline mutations in PTEN are present in Bannayan-Zonana syndrome | Q48046915 | ||
Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity. | Q51990523 | ||
Lhermitte-Duclos Disease in 3 Children: A Clinical Long-Term Observation | Q53655103 | ||
Proteus syndrome: Misdiagnosis with PTEN mutations | Q55037807 | ||
Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases. | Q55039065 | ||
Molecular Classification of Patients With Unexplained Hamartomatous and Hyperplastic Polyposis | Q57567716 | ||
Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes | Q57591248 | ||
Localization of the gene for Cowden disease to chromosome 10q22–23 | Q57694734 | ||
P304 | page(s) | 661-675 | |
P577 | publication date | 2010-05-17 | |
P1476 | title | PTENHamartoma Tumor Syndrome |
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