Zobrazeno 1 - 10
of 58
pro vyhledávání: '"Peutz-Jeghers syndrome (PJS)"'
Autor:
Rawan Alhalabi, Dalia Belsha, Aws Alfahad, Wissam Jamal Altamr, Basil Nasrallah, Muhammad Eyad Ba'ath
Publikováno v:
Journal of Pediatric Surgery Case Reports, Vol 91, Iss , Pp 102590- (2023)
Peutz–Jeghers syndrome is a rare genetic disorder characterized by the development of benign hamartomatous polyps in the gastrointestinal tract and mucocutaneous pigmented macules on the lips, hands, and oral mucosa. Only 7% of patients present ini
Externí odkaz:
https://doaj.org/article/b109f1e1de4e4115a44e494f3b90aa49
Autor:
Xiqiao Xu, Ruifeng Song, Kaiyue Hu, Ya Li, Haixia Jin, Bing Chen, Wenyan Song, Yile Zhang, Jiawei Xu, Yingpu Sun
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-14 (2022)
Abstract Background Peutz Jeghers syndrome (PJS) is an autosomal dominant genetic disorder caused by STK11 mutation with a predisposition to gastrointestinal polyposis and cancer. PJS patients suffer poor quality of life and are highly concerned abou
Externí odkaz:
https://doaj.org/article/e77fcf559733408d8c617ab30116115d
Publikováno v:
Journal of the Belgian Society of Radiology, Vol 106, Iss 1 (2022)
Teaching points: Gastroduodenal intussusception is an infrequent cause of abdominal pain in children, for which a lead-point is nearly ubiquitous, which imposes endoscopic reduction as the first line of treatment.
Externí odkaz:
https://doaj.org/article/afde754908154006a8f9204964be0262
Autor:
Yu-Liang Jiang, Zi-Ye Zhao, Bai-Rong Li, Fu Yang, Jing Li, Xiao-Wei Jin, Hao Wang, En-Da Yu, Shu-Han Sun, Shou-Bin Ning
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-10 (2018)
Abstract Background Peutz-Jeghers syndrome (PJS) is caused by mutations in serine/threonine kinase 11 (STK11) gene. The increased cancer risk has been connected to P53 pathway. Methods PJS probands with STK11 mutation were included in the function an
Externí odkaz:
https://doaj.org/article/2868c0ad04004740af160e85a4c1bd18
Publikováno v:
Journal of the Belgian Society of Radiology, Vol 106, Iss 1 (2022)
Journal of the Belgian Society of Radiology; Vol 106, No 1 (2022); 4
Journal of the Belgian Society of Radiology
Journal of the Belgian Society of Radiology; Vol 106, No 1 (2022); 4
Journal of the Belgian Society of Radiology
Teaching points: Gastroduodenal intussusception is an infrequent cause of abdominal pain in children, for which a lead-point is nearly ubiquitous, which imposes endoscopic reduction as the first line of treatment.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4aebd62898dd7408237fb1797c4e31c5
https://www.jbsr.be/articles/2572
https://www.jbsr.be/articles/2572
Akademický článek
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Publikováno v:
Translational Cancer Research
Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited disorder characterised by gastrointestinal (GI) hamartomatous polyposis and mucocutaneous pigmentations. PJS is associated with an increased cancer risk, including GI and various ext
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35cd9a7f2c538f35f5940607b8940777
https://doi.org/10.21037/tcr.2020.02.64
https://doi.org/10.21037/tcr.2020.02.64
Autor:
Massimo Martinelli, Francesca Cammarota, Andrea Cerasuolo, Erasmo Miele, Francesca Duraturo, Annamaria Staiano, Paola Izzo, Marina De Rosa
Publikováno v:
International Journal of Molecular Sciences
Volume 21
Issue 21
International Journal of Molecular Sciences, Vol 21, Iss 8201, p 8201 (2020)
Volume 21
Issue 21
International Journal of Molecular Sciences, Vol 21, Iss 8201, p 8201 (2020)
Peutz&ndash
Jeghers Syndrome (PJS) is an autosomal dominant pre-cancerous disorder caused in 80&ndash
90% of cases by germline mutations in the tumor suppressor gene STK11. We performed a genetic test of the STK11 gene in two Italian young
Jeghers Syndrome (PJS) is an autosomal dominant pre-cancerous disorder caused in 80&ndash
90% of cases by germline mutations in the tumor suppressor gene STK11. We performed a genetic test of the STK11 gene in two Italian young
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7dc9051e30e7d7fd2a449d21d086a33
Akademický článek
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