Human Genome Epidemiology Literature Finder
Rare Diseases
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Query Trace: Peutz-jeghers Syndrome[original query] |
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Polycystic ovary syndrome (PCOS) with melanocytic mucosal macules: the role of STK11 gene polymorphisms in PCOS and Peutz-Jeghers syndrome. International journal of dermatology 2015 Jul . Smith Kathleen J, Germain Margueri |
Specific Alu elements involved in a significant percentage of copy number variations of the STK11 gene in patients with Peutz-Jeghers syndrome. Familial cancer 2015 Sep 14 (3): 455-61. Borun Pawel, De Rosa Marina, Nedoszytko Boguslaw, Walkowiak Jaroslaw, Plawski Andrz |
Immunohistochemical Loss of LKB1 Is a Biomarker for More Aggressive Biology in KRAS-Mutant Lung Adenocarcinoma. Clinical cancer research : an official journal of the American Association for Cancer Research 2015 Mar . Calles Antonio, Sholl Lynette M, Rodig Scott J, Pelton Ashley K, Hornick Jason L, Butaney Mohit, Lydon Christine, Dahlberg Suzanne E, Oxnard Geoffrey R, Jackman David M, Janne Pasi |
Characterization of the STK11 splicing variant as a normal splicing isomer in a patient with Peutz-Jeghers syndrome harboring genomic deletion of the STK11 gene. Human genome variation 2016 3 16002. Masuda Kenta, Kobayashi Yusuke, Kimura Tokuhiro, Umene Kiyoko, Misu Kumiko, Nomura Hiroyuki, Hirasawa Akira, Banno Kouji, Kosaki Kenjiro, Aoki Daisuke, Sugano Kokic |
Disease pattern in Danish patients with Peutz-Jeghers syndrome. International journal of colorectal disease 2016 Mar . Jelsig A M, Qvist N, Sunde L, Brusgaard K, Hansen Tvo, Wikman F P, Nielsen C B, Nielsen I K, Gerdes A M, Bojesen A, Ousager L |
Genetic Screening and Analysis of LKB1 Gene in Chinese Patients with Peutz-Jeghers Syndrome. Medical science monitor : international medical journal of experimental and clinical research 2016 Oct 22 3628-3640. Chen Chunyan, Zhang Xiaomei, Wang Deqiang, Wang Fangyu, Pan Jian, Wang Zhenkai, Liu Chang, Wu Lin, Lu Heng, Li Nan, Wei Juan, Shi Hui, Wan Haijun, Zhu Ming, Chen Senqing, Zhou Yun, Zhou Xin, Yang Liu, Liu Jio |
Clinical manifestations and STK11 germline mutations in Taiwanese patients with Peutz-Jeghers syndrome. Asian journal of surgery 2017 9 41 (5): 480-485. Chiang Jy-Ming, Chen Tse-Chi |
Minimal deviation adenocarcinoma (adenoma malignum) of the uterine cervix: clinicopathological analysis of 17 cases. Obstetrics & gynecology science 2018 9 61 (5): 590-597. Lee Min Hee, Kim Eun Soo, Choi Min Chul, Heo Jin-Hyung, Jang Ja-Hyun, Jung Sang Geun, Park Hyun, Joo Won Duk, Lee Chan, Lee Je |
Chronic pancreatitis changes in high-risk individuals for pancreatic ductal adenocarcinoma. Gastrointestinal endoscopy 2018 8 89 (4): 842-851.e1. Thiruvengadam Sushrut S, Chuang Judith, Huang Robert, Girotra Mohit, Park Walter |
Targeted Genomic Profiling of Female Adnexal Tumors of Probable Wolffian Origin (FATWO). International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists 2018 Aug . Mirkovic Jelena, Dong Fei, Sholl Lynette M, Garcia Elizabeth, Lindeman Neal, MacConaill Laura, Crum Christopher P, Nucci Marisa R, McCluggage W Glenn, Howitt Brooke |
Prenatal diagnosis in a hereditary Peutz-Jeghers syndrome family with high cancer risk. BMC medical genetics 2018 5 19 (1): 66. Wang Zhiqing, Liu Shu, Liu Siping, Wang Yadong, Chen Junsheng, Wu Baopi |
[Identification of a novel STK11 gene mutation in a family affected with hereditary Peutz-Jeghers syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2018 2 35 (1): 89-91. Xu Cuiyang, Ma Yue, Cao Fei, Zhao He, Wang Yongjie, Xiao Zewen, Tang Jiebing, Yan Feihu, Sun Peng, Zhang Na, Tao |
STK11 gene analysis reveals a significant number of splice mutations in Chinese PJS patients. Cancer genetics 2018 Nov . Jiang Yu-Liang, Zhao Zi-Ye, Li Bai-Rong, Wang Hao, Yu En-Da, Ning Shou-B |
Clinical and Genetic Study of Children With Peutz-Jeghers Syndrome Identifies a High Frequency of STK11 De Novo Mutation. Journal of pediatric gastroenterology and nutrition 2018 10 68 (2): 199-206. Zhao Hong-Mei, Yang Yong-Jia, Duan Jia-Qi, Ouyang Hong-Juan, Liu Li, Yi Li-Chun, Xiao Zheng-Hui, Zheng Yu, Peng Lv, Attard Thomas M, Li Ding-You, You Jie- |
A novel mutation (c.855delG) in STK11 gene is associated with Peutz-Jeghers syndrome in a Chinese family. Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2018 1 50 (3): 312-314. Zhao Zi-Ye, Jiang Yu-Liang, Li Bai-Rong, Yu En-Da, Ning Shou-B |
Clinical and Histologic Overlap and Distinction Among Various Hamartomatous Polyposis Syndromes. Clinical and translational gastroenterology 2019 5 10 (5): 1-9. Gilad Ophir, Rosner Guy, Fliss-Isakov Naomi, Aharon-Kaspi Sivan, Strul Hana, Gluck Nathan, Kariv Revit |
Novel germline STK11 variants and breast cancer phenotype identified in an Indian cohort of Peutz-Jeghers syndrome. Human molecular genetics 2019 1 28 (11): 1885-1893. Lipsa Anuja, Kowtal Pradnya, Sarin Raj |
[Diagnosis and treatment for 46 cases of Peutz-Jeghers syndrome]. Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 2019 1 43 (12): 1323-1327. Jia Yan, Fu Hao, Li Na, Kang Qian, Sheng Jianq |
Clinical and Genetic Analyses of 38 Chinese Patients with Peutz-Jeghers Syndrome. BioMed research international 2020 5 2020 9159315. Wu Bo-Da, Wang Yong-Jun, Fan Liang-Liang, Huang Hui, Zhou Peng, Yang Mei, Shi Xiao-L |
STK11 p.F354L Germline Mutation in a Case of Multiple Gastrointestinal Tumors. Case reports in gastroenterology 2020 11 14 (3): 547-553. Kojima Yohei, Ohtsuka Kouki, Ishii Shun, Aso Nobuyoshi, Ohki Atsuko, Hashimoto Yoshikazu, Takeuchi Hirohisa, Ohnishi Hiroaki, Abe Nobutsu |
Significant detection of new germline pathogenic variants in Australian Pancreatic Cancer Screening Program participants. Hereditary cancer in clinical practice 2021 8 19 (1): 33. Murali Krithika, Dwarte Tanya M, Nikfarjam Mehrdad, Tucker Katherine M, Vaughan Rhys B, Efthymiou Marios, Collins Allison, Spigelman Allan D, Salmon Lucinda, Johns Amber L, Williams David B, Delatycki Martin B, John Thomas, Stoita Ali |
Serine/Threonine Kinase 11 Plays a Canonical Role in Malignant Progression of KRAS -Mutant and GNAS -Wild-Type Intraductal Papillary Mucinous Neoplasms of the Pancreas. Annals of surgery 2021 4 277 (2): e384-e395. Omori Yuko, Ono Yusuke, Morikawa Takanori, Motoi Fuyuhiko, Higuchi Ryota, Yamamoto Masakazu, Hayakawa Yuko, Karasaki Hidenori, Mizukami Yusuke, Unno Michiaki, Furukawa To |
Integrative characterization of intraductal tubulopapillary neoplasm (ITPN) of the pancreas and associated invasive adenocarcinoma. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2022 9 35 (12): 1929-1943. Mafficini Andrea, Simbolo Michele, Shibata Tatsuhiro, Hong Seung-Mo, Pea Antonio, Brosens Lodewijk A, Cheng Liang, Antonello Davide, Sciammarella Concetta, Cantù Cinzia, Mattiolo Paola, Taormina Sergio V, Malleo Giuseppe, Marchegiani Giovanni, Sereni Elisabetta, Corbo Vincenzo, Paolino Gaetano, Ciaparrone Chiara, Hiraoka Nobuyoshi, Pallaoro Daniel, Jansen Casper, Milella Michele, Salvia Roberto, Lawlor Rita T, Adsay Volkan, Scarpa Aldo, Luchini Claud |
High risk and early onset of cancer in Chinese patients with Peutz-Jeghers syndrome. Frontiers in oncology 2022 8 12 900516. Wang Zhiqing, Wang Zhi, Wang Ying, Wu Jianhua, Yu Zonglin, Chen Chudi, Chen Junsheng, Wu Baoping, Chen |
Is Biannual Surveillance for Pancreatic Cancer Sufficient in Individuals With Genetic Syndromes or Familial Pancreatic Cancer? Journal of the National Comprehensive Cancer Network : JNCCN 2022 6 20 (6): 663-673.e12. Wang Yifan, Cuggia Adeline, Chen Yen-I, Parent Josée, Stanek Agatha, Denroche Robert E, Zhang Amy, Grant Robert C, Domecq Céline, Golesworthy Bryn, Shwaartz Chaya, Borgida Ayelet, Holter Spring, Wilson Julie M, Chong George, O'Kane Grainne M, Knox Jennifer J, Fischer Sandra E, Gallinger Steven, Gao Zu-Hua, Foulkes William D, Waschke Kevin A, Zogopoulos Geor |
Pancreatic Cancer with Mutation in BRCA1/2, MLH1, and APC Genes: Phenotype Correlation and Detection of a Novel Germline BRCA2 Mutation. Genes 2022 2 13 (2): . Vietri Maria Teresa, D'Elia Giovanna, Caliendo Gemma, Albanese Luisa, Signoriello Giuseppe, Napoli Claudio, Molinari Anna Mar |
Preimplantation genetic testing in two Danish couples affected by Peutz-Jeghers syndrome. Scandinavian journal of gastroenterology 2022 10 58 (3): 314-318. Byrjalsen Anna, Roos Laura, Diemer Tue, Karstensen John Gásdal, Løssl Kristine, Jelsig Anne Mar |
STK11 Causative Variants and Copy Number Variations Identified in Thai Patients With Peutz-Jeghers Syndrome. Cureus 2023 3 15 (2): e34495. Chiraphapphaiboon Wannasiri, Thongnoppakhun Wanna, Limjindaporn Thawornchai, Sawasdichai Sunisa, Roothumnong Ekkapong, Prangphan Kanjana, Pamornpol Benjaporn, Limwongse Chanin, Pithukpakorn Man |
Clinical and Molecular Analysis in Patients with Peutz-Jeghers Syndrome. The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology 2024 8 35 (5): 374-384. P?nar Güney Aslan, Ahmet Okay Ça?layan, Elçin Bora, Altu? Koç, Hilal Yücel, Ayfer Ülgenalp, Ye?im Öztürk, Gül ?eker, Mesut Akar |
Peutz Jeghers syndrome accompanied with cervical gastric adenocarcinoma and extensive metastasis: a case report. International journal of clinical and experimental pathology 2024 1 16 (12): 386-392. Xia Wu, Dongni Liang, Ying |
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