نتایج جستجو برای: peutz
تعداد نتایج: 822 فیلتر نتایج به سال:
We analyzed somatic mutation and loss of heterozygosity (LOH) in the serine/threonine kinase 11 (STK11)/Peutz-Jeghers syndrome gene in 49 colorectal tumors in three different stages of a dysplasia-carcinoma sequence. We detected LOH in 10 of 19 (52.6%) informative colorectal cancers at loci D19S886 and/or D19S883, but no LOH was observed in 25 informative adenomas. We detected a total of 9 soma...
Peutz-Jeghers syndrome (PJS, MIM 175,2000) is a disease of autosomal dominant inheritance that is characterised by hamartomatous gastrointestinal polyps and mucocutaneous pigmentation. In addition to problems such as intussusception, PJS predisposes to cancers of several sites. The unusual combination of clinical features makes the identification of the defect underlying PJS particularly intere...
Peutz-Jeghers syndrome is a rare, autosomal dominant inherited disorder, which is characterized by mucocutaneous pigmentations, gastrointestinal polyposis and an increased risk of cancer. It is caused by germline mutations in the LKB1 tumour suppressor gene, as a result of which hamartomatous polyps can develop already at an early age, which may cause various complications, including abdominal ...
Studies of hereditary cancer syndromes have contributed greatly to our understanding of molecular events involved in tumor genesis. One such syndrome of our interest is Peutz-Jeghers Syndrome, a hereditary disease, in which there is predisposition to benign and malignant tumors of many organ systems. Here, we investigate the genes responsible for the Peutz-Jeghers syndrome (PJS) and the pathway...
EDITORIAL SYNOPSIS Since interest was first aroused in the Peutz-Jeghers syndrome there have been conflicting views as to the frequency with which malignant change occurs in the polyps found in the small intestine, and this has been due to the difficulty of interpreting the histological structure of the polypi. Many now feel that in this syndrome these lesions are hamartomas and that the appare...
the peutz-jeghers syndrome is characterized by an association of gastrointestinal polyposis with rnelain spots on oral mucosa, lips, and skin. this symdrorne is inherited as a simple mendelian autosomal dominant trait. intussusception is by far the most common complication. although these polyps are widely regarded as hamartomas and rarely undergo malignant change, they have been reported to be...
Peutz-Jeghers syndrome (PJS) is an inherited, autosomal dominant disorder characterized by hamartomatous polyps in the gastrointestinal tract and pigmented mucocutaneous lesions. Data on prevalence of PJS in India is not available. PJS predisposes sufferers to various malignancies (gastrointestinal, pancreatic, lung, breast, uterine, ovarian and testicular tumors). We report here a case of 18 y...
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