Zobrazeno 1 - 10
of 25
pro vyhledávání: '"PEUTZ-Jeghers syndrome"'
Autor:
Xu X; Center for Reproductive Medicine, Henan Key Laboratory of Reproduction and Genetics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, Henan, China.; Henan Key Laboratory of Reproduction and Genetics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.; Henan Provincial Obstetrical and Gynecological Diseases (Reproductive Medicine) Clinical Research Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.; Henan Engineering Laboratory of Preimplantation Genetic Diagnosis and Screening, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China., Song R; Department of Gastroenterology, First Affiliated Hospital of Zhengzhou University, Zhengzhou, China., Hu K; Center for Reproductive Medicine, Henan Key Laboratory of Reproduction and Genetics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, Henan, China.; Henan Key Laboratory of Reproduction and Genetics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.; Henan Provincial Obstetrical and Gynecological Diseases (Reproductive Medicine) Clinical Research Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.; Henan Engineering Laboratory of Preimplantation Genetic Diagnosis and Screening, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China., Li Y; Department of Gastroenterology, First Affiliated Hospital of Zhengzhou University, Zhengzhou, China., Jin H; Center for Reproductive Medicine, Henan Key Laboratory of Reproduction and Genetics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, Henan, China.; Henan Key Laboratory of Reproduction and Genetics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.; Henan Provincial Obstetrical and Gynecological Diseases (Reproductive Medicine) Clinical Research Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.; Henan Engineering Laboratory of Preimplantation Genetic Diagnosis and Screening, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China., Chen B; Department of Gastroenterology, First Affiliated Hospital of Zhengzhou University, Zhengzhou, China., Song W; Center for Reproductive Medicine, Henan Key Laboratory of Reproduction and Genetics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, Henan, China.; Henan Key Laboratory of Reproduction and Genetics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.; Henan Provincial Obstetrical and Gynecological Diseases (Reproductive Medicine) Clinical Research Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.; Henan Engineering Laboratory of Preimplantation Genetic Diagnosis and Screening, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China., Zhang Y; Center for Reproductive Medicine, Henan Key Laboratory of Reproduction and Genetics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, Henan, China.; Henan Key Laboratory of Reproduction and Genetics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.; Henan Provincial Obstetrical and Gynecological Diseases (Reproductive Medicine) Clinical Research Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.; Henan Engineering Laboratory of Preimplantation Genetic Diagnosis and Screening, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China., Xu J; Center for Reproductive Medicine, Henan Key Laboratory of Reproduction and Genetics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, Henan, China. jiawxu@foxmail.com.; Henan Key Laboratory of Reproduction and Genetics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China. jiawxu@foxmail.com.; Henan Provincial Obstetrical and Gynecological Diseases (Reproductive Medicine) Clinical Research Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China. jiawxu@foxmail.com.; Henan Engineering Laboratory of Preimplantation Genetic Diagnosis and Screening, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China. jiawxu@foxmail.com., Sun Y; Center for Reproductive Medicine, Henan Key Laboratory of Reproduction and Genetics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, Henan, China. syp2008@vip.sina.com.; Henan Key Laboratory of Reproduction and Genetics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China. syp2008@vip.sina.com.; Henan Provincial Obstetrical and Gynecological Diseases (Reproductive Medicine) Clinical Research Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China. syp2008@vip.sina.com.; Henan Engineering Laboratory of Preimplantation Genetic Diagnosis and Screening, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China. syp2008@vip.sina.com.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Feb 21; Vol. 17 (1), pp. 64. Date of Electronic Publication: 2022 Feb 21.
Autor:
Jiang YL; Department of Gastroenterology, Beijing Shijitan Hospital, Capital Medical University, 10 Tieyi Rd., Beijing, 100038, China., Xu XD; Department of Colorectal Surgery and Hereditary Colorectal Cancer Registry, Changhai Hospital, 168 Changhai Rd., Shanghai, 200433, China., Li BR; Department of Gastroenterology, Airforce Medical Center of PLA, Beijing, 100142, China., Yu ED; Department of Colorectal Surgery and Hereditary Colorectal Cancer Registry, Changhai Hospital, 168 Changhai Rd., Shanghai, 200433, China., Zhao ZY; Department of Colorectal Surgery and Hereditary Colorectal Cancer Registry, Changhai Hospital, 168 Changhai Rd., Shanghai, 200433, China. yemenzhao@126.com., Liu H; Department of Gastroenterology, Beijing Shijitan Hospital, Capital Medical University, 10 Tieyi Rd., Beijing, 100038, China.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Jun 08; Vol. 16 (1), pp. 261. Date of Electronic Publication: 2021 Jun 08.
Autor:
Li T; Department of Pathology, Air Force Medical Center, PLA, Beijing, China., Lin W; Department of Pathology, Air Force Medical Center, PLA, Beijing, China.; Department of Pathology, Huizhou Third People's Hospital, Guangzhou Medical University, Huizhou, China., Zhao Y; Department of Pathology, Air Force Medical Center, PLA, Beijing, China., Zhu J; Department of Pathology, Air Force Medical Center, PLA, Beijing, China., Sun T; Department of Gastroenterology, Air Force Medical Center, PLA, Beijing, China., Ren L; Department of Pathology, Air Force Medical Center, PLA, Beijing, China. renlifei20000@sina.com.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Aug 15; Vol. 15 (1), pp. 208. Date of Electronic Publication: 2020 Aug 15.
Autor:
Jelsig AM; Department of Clinical Genetics, Odense University Hospital and Institute of Clinical Research, University of Southern Denmark, Sdr, Boulevard 29, 5000 Odense C, Denmark. anne.marie.jelsig@rsyd.dk., Qvist N, Brusgaard K, Nielsen CB, Hansen TP, Ousager LB
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2014 Jul 15; Vol. 9, pp. 101. Date of Electronic Publication: 2014 Jul 15.
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:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-6 (2021)
Abstract Objective To report Peutz–Jeghers syndrome (PJS) cases with non-definitive clues in the family or personal history and finally diagnosed through pathological examination and STK11 gene mutation test. Clinical presentation and intervention
Externí odkaz:
https://doaj.org/article/1fbae9a5cf684cc19bd1f6ff2123ffdf
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-7 (2020)
Abstract Background Peutz-Jeghers Syndrome (PJS) is known as a rare inherited polyposis due to the malfunction of serine/threonine kinase gene LKB1. However, not all of PJS patients carry LKB1 germline mutation. Previous researches have observed the
Externí odkaz:
https://doaj.org/article/93549b3a6658443b9f54a63e60106abe
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-6 (2021)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Objective To report Peutz–Jeghers syndrome (PJS) cases with non-definitive clues in the family or personal history and finally diagnosed through pathological examination and STK11 gene mutation test. Clinical presentation and intervention PJS was s
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. 17(1)
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 about whether
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-7 (2020)
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-7 (2020)
Background Peutz-Jeghers Syndrome (PJS) is known as a rare inherited polyposis due to the malfunction of serine/threonine kinase gene LKB1. However, not all of PJS patients carry LKB1 germline mutation. Previous researches have observed the elevated