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   Articles with "pten mutations" as a keyword



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Copy Number Variation and Clinical Outcomes in Patients With Germline PTEN Mutations

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recommendations! Published in 2020 at "JAMA Network Open"

DOI: 10.1001/jamanetworkopen.2019.20415

Abstract: This cohort study assesses whether copy number variations are associated with specific phenotypes in patients with germline PTEN mutations. read more here.

Keywords: copy number; number variation; patients germline; pten mutations ... See more keywords
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Dynamics and structural stability effects of germline PTEN mutations associated with cancer versus autism phenotypes

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recommendations! Published in 2019 at "Journal of Biomolecular Structure and Dynamics"

DOI: 10.1080/07391102.2018.1465854

Abstract: Individuals with germline mutations in the tumor suppressor gene phosphatase and tensin homolog (PTEN), irrespective of clinical presentation, are diagnosed with PTEN hamartoma tumor syndrome (PHTS). PHTS confers a high risk of breast, thyroid, and… read more here.

Keywords: pten mutations; cancer; associated cancer; germline pten ... See more keywords
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A family with PTEN mutations with malignancy and an unusually high number of offspring with autism spectrum disorder: a case report

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recommendations! Published in 2018 at "Journal of Medical Case Reports"

DOI: 10.1186/s13256-018-1863-0

Abstract: BackgroundCowden’s syndrome (OMIM:158350), a rare genetic disorder (incidence ~ 1:250,000), is caused by mutations of the tumor suppressor gene PTEN. In this report, we describe clinical manifestations of a 56-year-old patient diagnosed with Cowden’s syndrome and… read more here.

Keywords: pten mutations; autism spectrum; spectrum disorder; family ... See more keywords
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PTEN mutations as predictive marker for the high-grade endometrial cancer development in slovak women.

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recommendations! Published in 2022 at "Physiological research"

DOI: 10.33549/physiolres.935030

Abstract: Endometrial carcinoma (ECa) is one of the most common neoplasia of the female genital tract. The phosphatase and tensin (PTEN) homolog is the most frequently mutated tumor suppressor gene in endometrial carcinoma. PTEN encodes a… read more here.

Keywords: pten mutations; endometrial carcinoma; mutations predictive; predictive marker ... See more keywords