review article | Q7318358 |
scholarly article | Q13442814 |
P2093 | author name string | Wendy Kohlmann | |
Randall W Burt | |||
Kory Jasperson | |||
Amanda Gammon | |||
P2860 | cites work | High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome | Q24647007 |
Hamartomatous polyposis syndromes | Q24654006 | ||
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 | ||
Cowden's disease. A possible new symptom complex with multiple system involvement | Q28189705 | ||
PTEN: one gene, many syndromes | Q28203387 | ||
Lipomatosis, angiomatosis, and macrencephalia. A previously undescribed congenital syndrome | Q28250113 | ||
Clinical and pathological features of breast disease in Cowden's syndrome: an underrecognized syndrome with an increased risk of breast cancer | Q28260081 | ||
Landscaping the cancer terrain | Q28272919 | ||
Peutz-Jeghers syndrome: 78-year follow-up of the original family | Q33601730 | ||
Peutz-Jeghers syndrome | Q33679883 | ||
Prevention of pancreatic cancer and strategies for management of familial pancreatic cancer | Q34269104 | ||
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). | Q34306976 | ||
Cowden syndrome-diagnostic skin signs | Q34309307 | ||
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome | Q34504165 | ||
Somatic mutations in the STK11/LKB1 gene are uncommon in rare gynecological tumor types associated with Peutz-Jegher's syndrome | Q34506538 | ||
Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations | Q77421649 | ||
Constipation, polyps, or cancer? let PTEN predict your future | Q79098518 | ||
A solitary Peutz-Jeghers-type hamartomatous polyp in the duodenum. A case report including results of mutation analysis | Q79799471 | ||
Molecular and clinical characteristics in 46 families affected with Peutz-Jeghers syndrome | Q80089395 | ||
Concise handbook of familial cancer susceptibility syndromes - second edition | Q81468811 | ||
Genetic heterogeneity in Peutz-Jeghers syndrome | Q34509444 | ||
Very high risk of cancer in familial Peutz-Jeghers syndrome | Q34512286 | ||
Genotype-phenotype correlations in Peutz-Jeghers syndrome | Q34547534 | ||
Relative frequency and morphology of cancers in STK11 mutation carriers | Q34548485 | ||
Wireless capsule endoscopy for evaluation of phenotypic expression of small-bowel polyps in patients with Peutz-Jeghers syndrome and in symptomatic first-degree relatives | Q34553092 | ||
Genetic testing for inherited colon cancer | Q34557532 | ||
High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome | Q34562591 | ||
Peutz-Jeghers syndrome and management recommendations | Q34566543 | ||
Frequency and spectrum of cancers in the Peutz-Jeghers syndrome | Q34567595 | ||
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 | ||
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 | ||
Sotos syndrome with intestinal polyposis and pigmentary changes of the genitalia. | Q34718558 | ||
Colorectal neoplasia in juvenile polyposis or juvenile polyps | Q35627435 | ||
Association between Cowden syndrome and Lhermitte-Duclos disease: report of two cases and review of the literature | Q35761550 | ||
Hereditary hemorrhagic telangiectasia: an overview of diagnosis and management in the molecular era for clinicians | Q35842042 | ||
The hamartomatous polyposis syndromes: a clinical and molecular review | Q36018533 | ||
SMAD4 mutations found in unselected HHT patients. | Q36927105 | ||
Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis | Q38428293 | ||
Cowden's disease (multiple hamartoma and neoplasia syndrome). A case report and review of the English literature | Q40272335 | ||
Ovarian sex cord tumor with annular tubules: review of 74 cases including 27 with Peutz-Jeghers syndrome and four with adenoma malignum of the cervix | Q40342834 | ||
Deletion of PTEN and BMPR1A on chromosome 10q23 is not always associated with juvenile polyposis of infancy. | Q43085621 | ||
STK11 status and intussusception risk in Peutz-Jeghers syndrome | Q43169975 | ||
Hereditary retinoblastoma, lipoma, and second primary cancers | Q44731716 | ||
Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation | Q45345194 | ||
Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. | Q52181417 | ||
Screening for early pancreatic neoplasia in high-risk individuals: a prospective controlled study. | Q53539382 | ||
Small bowel tumours: a 10 year experience in four Sydney teaching hospitals. | Q53610502 | ||
The utility of capsule endoscopy small bowel surveillance in patients with polyposis. | Q54483231 | ||
Juvenile polyposis--a precancerous condition. | Q54738557 | ||
The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis. | Q54799615 | ||
Molecular Classification of Patients With Unexplained Hamartomatous and Hyperplastic Polyposis | Q57567716 | ||
GI polyposis and glycogenic acanthosis of the esophagus associated with PTEN mutation positive Cowden syndrome in the absence of cutaneous manifestations | Q57591191 | ||
Localization of the gene for Cowden disease to chromosome 10q22–23 | Q57694734 | ||
A prospective trial comparing wireless capsule endoscopy and barium contrast series for small-bowel surveillance in hereditary GI polyposis syndromes | Q61058090 | ||
Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes | Q64044735 | ||
Bannayan-Riley-Ruvalcaba syndrome | Q67509446 | ||
The Cowden syndrome: a clinical and genetic study in 21 patients | Q69486172 | ||
Peutz-Jeghers syndrome | Q73531531 | ||
Cowden's disease diagnosed through mucocutaneous lesions and gastrointestinal polyposis with recurrent hematochezia, unrevealed by initial diagnosis | Q73975290 | ||
Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers | Q74506767 | ||
P433 | issue | 2 | |
P921 | main subject | polyposis | Q2103081 |
P304 | page(s) | 219-231 | |
P577 | publication date | 2009-01-01 | |
P1433 | published in | Best Practice and Research: Clinical Gastroenterology | Q15754316 |
P1476 | title | Hamartomatous polyposis syndromes | |
P478 | volume | 23 |
Q47126819 | A giant and extensive solitary Peutz-Jeghers-type polyp in the antrum of stomach: Case report |
Q92582215 | A rare case of synchronous colocolic intussusception in association with Peutz-Jeghers syndrome |
Q36416282 | ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes |
Q99579992 | An unusual presentation revealing Peutz-Jeghers syndrome in adult |
Q36609676 | Autosomal Dominant Inherited Cowden's Disease in a Family |
Q64042163 | Balloon-assisted enteroscopy with prophylactic polypectomy for Peutz-Jeghers syndrome: experience in Taiwan |
Q34203577 | Characterization of the rs2802292 SNP identifies FOXO3A as a modifier locus predicting cancer risk in patients with PJS and PHTS hamartomatous polyposis syndromes |
Q62978110 | Clinical management of hereditary colorectal cancer syndromes |
Q34661470 | Colorectal polyps and polyposis syndromes |
Q53820708 | Comparison of intraoperative enteroscopy and double-balloon enteroscopy for the diagnosis and treatment of Peutz-Jeghers syndrome. |
Q34487309 | Distinguishing Ménétrier's disease from its mimics |
Q36059087 | Do hereditary syndrome-related gynecologic cancers have any specific features? |
Q91655781 | Early onset Peutz-Jeghers syndrome, the importance of appropriate diagnosis and follow-up: A case report |
Q37390272 | Endometrial cancer in a 15-year-old girl: A complication of Cowden Syndrome |
Q54401186 | Exome sequencing revealed novel germline mutations in Chinese Peutz-Jeghers syndrome patients. |
Q40728997 | Familial juvenile polyposis syndrome with a novel SMAD4 germline mutation |
Q33599436 | Gastrointestinal tract cancers: Genetics, heritability and germ line mutations |
Q90748460 | Genetic predisposition to colorectal cancer: syndromes, genes, classification of genetic variants and implications for precision medicine |
Q82064449 | Giant stomach secondary to juvenile polyposis syndrome |
Q28280647 | Hereditary and familial colon cancer |
Q82339511 | Hereditary colorectal cancer: the pathologist's point of view |
Q47387678 | Intramucosal lipomas of the colon implicate Cowden syndrome |
Q34163651 | LKB1 destabilizes microtubules in myoblasts and contributes to myoblast differentiation |
Q41314878 | Peutz-Jeghers syndrome manifested as massive melæna at CHU-JRA Madagascar hospital: a case report |
Q41916766 | Peutz-Jeghers syndrome with early onset of pre-adolescent gynecomastia: a predigree case report and clinical and molecular genetic analysis |
Q33596484 | Peutz-Jeghers syndrome without mucocutaneous pigmentation: a case report |
Q37422996 | Peutz-Jeghers syndrome: diagnostic and therapeutic approach. |
Q37671215 | Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps |
Q91691350 | Sporadic Peutz-Jeghers syndrome: a rare cause of intussusception in a toddler with no medical history |
Q90666764 | The missing heritability of familial colorectal cancer |
Q38074867 | The skin: a mirror to the gut. |
Q38215923 | Toxicogenomics and cancer susceptibility: advances with next-generation sequencing. |
Q54340127 | [Gastrointestinal polyposis syndromes]. |
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