Case report of a Li–Fraumeni syndrome-like phenotype with a de novo mutation in CHEK2 (English)
- New search for: Zhuang, Xuehan
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- New search for: Li, Yongping
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In:
Medicine
;
95
, 29
;
e4251
;
2016
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ISSN:
- Article (Journal) / Print
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Title:Case report of a Li–Fraumeni syndrome-like phenotype with a de novo mutation in CHEK2
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Contributors:Zhuang, Xuehan ( author ) / Li, Yongping ( author ) / Cao, Hongzhi ( author ) / Wang, Ting ( author ) / Chen, Jianghao ( author ) / Liu, Jiayun ( author ) / Lin, Liya ( author ) / Ye, Rui ( author ) / Li, Xinyang ( author ) / Liu, Shuang ( author )
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Published in:Medicine ; 95, 29 ; e4251
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Publisher:
- New search for: Lippincott Williams and Wilkins
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Publication date:2016-01-01
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Size:e4251
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ISSN:
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Type of media:Article (Journal)
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Type of material:Print
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Language:English
- New search for: 610.5
- Further information on Dewey Decimal Classification
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Classification:
DDC: 610.5 -
Source:
© Metadata Copyright the British Library Board and other contributors. All rights reserved.
Table of contents – Volume 95, Issue 29
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
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KCNN2 polymorphisms and cardiac tachyarrhythmiasYu, Chih-Chieh / Chia-Ti, Tsai / Chen, Pei-Lung / Wu, Cho-Kai / Chiu, Fu-Chun / Chiang, Fu-Tien / Chen, Peng-Sheng / Chen, Chi-Ling / Lin, Lian-Yu / Juang, Jyh-Ming et al. | 2016
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Magnetic navigation system for percutaneous coronary interventionQi, Zhiyong / Wu, Bangwei / Luo, Xinping / Zhu, Jun / Shi, Haiming / Jin, Bo et al. | 2016
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Hyperaldosteronism and cardiovascular risk in patients with autosomal dominant polycystic kidney diseaseLai, Silvia / Petramala, Luigi / Mastroluca, Daniela / Petraglia, Emanuela / Di Gaeta, Alessandro / Indino, Elena / Panebianco, Valeria / Ciccariello, Mauro / Shahabadi, Hossein H. / Galani, Alessandro et al. | 2016
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Comparison of the effects of remifentanil-based general anesthesia and popliteal nerve block on postoperative pain and hemodynamic stability in diabetic patients undergoing distal foot amputationKim, Na Young / Lee, Ki-Young / Bai, Sun Joon / Hong, Jung Hwa / Lee, Jinwoo / Park, Jong Min / Kim, Shin Hyung et al. | 2016
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Pneumothorax associated with nontuberculous mycobacteriaUeyama, M / Asakura, Takanori / Morimoto, Kozo / Namkoong, Ho / Matsuda, Shuichi / Osawa, Takeshi / Ishii, Makoto / Hasegawa, Naoki / Kurashima, Atsuyuki / Goto, Hajime et al. | 2016
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The thyroid imaging reporting and data system on US, but not the BRAFV600E mutation in fine-needle aspirates, is associated with lateral lymph node metastasis in PTCPark, Vivian Y. / Kim, Eun-Kyung / Moon, Hee Jung / Yoon, Jung Hyun / Kwak, Jin Young et al. | 2016
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Radiation-induced functional connectivity alterations in nasopharyngeal carcinoma patients with radiotherapyMa, Qiongmin / Wu, Donglin / Zeng, Ling-Li / Shen, Hui / Hu, Dewen / Qiu, Shijun et al. | 2016
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Soft tissue Rosai–Dorfman disease in childXu, Yunlan / Han, Bingqiang / Yang, Jie / Ma, Jing / Chen, Ji / Wang, Zhigang et al. | 2016
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Exercise and cancer: return to work as a firefighter with ostomy after rectal carcinoma – a case reportWiskemann, Joachim / Schommer, Kai / Jaeger, Dirk / Scharhag-Rosenberger, Friederike et al. | 2016
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Association of gender and length of stay among Puerto Ricans hospitalized with decompensated heart failureAlnajashi, Mohammad A. / Almasoud, Mohammed A. / Aldaham, Sami A. / Acuña, Juan Manuel / Zevallos, Juan C. et al. | 2016
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Comparison between superficial muscularis propria and deep muscularis propria infiltration in gastric cancer patientsZhang, Wei-Han / He, Du / Chen, Dan-Ni / Li, Ting-Ting / Chen, Xin-Zu / Yang, Kun / Liu, Kai / Zhang, Bo / Chen, Zhi-Xin / Zhou, Zong-Guang et al. | 2016
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Influence of body mass index on the long-term outcomes of patients with esophageal squamous cell carcinoma who underwent esophagectomy as a primary treatmentJi, Wenhao / Zheng, Weihui / Li, Bo / Cao, Caineng / Mao, Weimin et al. | 2016
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Atopic dermatitis and association of risk for primary immune thrombocytopenia and autoimmune diseases among childrenWei, Chang-Ching / Lin, Cheng-Li / Shen, Te-Chun / Tsai, Jeng-Dau et al. | 2016
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Potential harmful correlation between homocysteine and low-density lipoprotein cholesterol in patients with hypothyroidismDong, Xuejie / Yao, Zhi / Hu, Yanjin / Yang, Ning / Gao, Xia / Xu, Yuan / Wang, Guang et al. | 2016
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The significance of relative dose intensity in adjuvant chemotherapy of pancreatic ductal adenocarcinoma—including the analysis of clinicopathological factors influencing relative dose intensityYabusaki, Norimitsu / Fujii, Tsutomu / Yamada, Suguru / Murotani, Kenta / Sugimoto, Hiroyuki / Kanda, Mitsuro / Nakayama, Goro / Koike, Masahiko / Fujiwara, Michitaka / Kodera, Yasuhiro et al. | 2016
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Dexmedetomidine improves gastrointestinal motility after laparoscopic resection of colorectal cancerChen, Chaojin / Huang, Pinjie / Lai, Lifei / Luo, Chenfang / Ge, Mian / Hei, Ziqing / Zhu, Qianqian / Zhou, Shaoli et al. | 2016
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Improvement of macular edema without discontinuation of fingolimod in a patient with multiple sclerosisAkiyama, Hisanao / Suzuki, Yu / Hara, Daisuke / Shinohara, Kensuke / Ogura, Hana / Akamatsu, Masashi / Hasegawa, Yasuhiro et al. | 2016
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Lymphoma in Danon disease with chronic rhabdomyolysis treated with EPOCH-RPorpaczy, Edit / Mayerhoefer, Marius / Salzer-Muhar, Ulrike / Jaeger, Ulrich et al. | 2016
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Digestive-tract sarcoidosisGhrenassia, Etienne / Mekinian, Arsene / Chapelon-Albric, Catherine / Levy, Pierre / Cosnes, Jacques / Sève, Pascal / Lefèvre, Guillaume / Dhôte, Robin / Launay, David / Prendki, Virginie et al. | 2016
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Oral treatment with valacyclovir for HSV-2-associated eczema herpeticum in a 9-month-old infantZhuang, Kaiwen / Wu, Qiong / Ran, Xin / Ran, Yuping / Ding, Liu / Xu, Xiaoxi / Lei, Song / Lama, Jebina et al. | 2016
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Ultrasound-guided bilateral combined inguinal femoral and subgluteal sciatic nerve blocks for simultaneous bilateral below-knee amputations due to bilateral diabetic foot gangrene unresponsive to peripheral arterial angioplasty and bypass surgery in a coagulopathic patient on antiplatelet therapy with a history of percutaneous coronary intervention for ischemic heart diseaseByun, Sung Hye / Lee, Jonghoon / Kim, Jong Hae et al. | 2016
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Factors associated with bronchiectasis in patients with moderate–severe chronic obstructive pulmonary diseaseJin, Jianmin / Yu, Wenling / Li, Shuling / Lu, Lijin / Liu, Xiaofang / Sun, Yongchang et al. | 2016
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Can repeat injection provide clinical benefit in patients with cervical disc herniation and stenosis when the first epidural injection results only in partial response?Lee, Jung Hwan / Lee, Sang-Ho et al. | 2016
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Case report of a Li–Fraumeni syndrome-like phenotype with a de novo mutation in CHEK2Zhuang, Xuehan / Li, Yongping / Cao, Hongzhi / Wang, Ting / Chen, Jianghao / Liu, Jiayun / Lin, Liya / Ye, Rui / Li, Xinyang / Liu, Shuang et al. | 2016
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Failing phrenics: an obscure cause of exertional dyspneaRafiq, Arsalan / Ijaz, Mohsin / Tariq, Hassan / Vakde, Trupti / Duncalf, Richard et al. | 2016
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Complications after spinal anesthesia in adult tethered cord syndromeLiu, Jing-Jie / Guan, Zheng / Gao, Zhen / Xiang, Li / Zhao, Feng / Huang, Sheng-Li et al. | 2016
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Association of blood pressure level with nonalcoholic fatty liver disease in nonhypertensive populationQian, Lin-Yan / Tu, Jian-Fei / Ding, Ya-Hui / Pang, Jie / Che, Xian-Da / Zou, Hai / Huang, Dong-Sheng et al. | 2016
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Liver fibrosis progression and clinical outcomes are intertwined: role of CD4+ T-cell count and NRTI exposure from a large cohort of HIV/HCV-coinfected patients with detectable HCV-RNAFocà, Emanuele / Fabbiani, Massimiliano / Prosperi, Mattia / Quiros Roldan, Eugenia / Castelli, Francesco / Maggiolo, Franco / Di Filippo, Elisa / Di Giambenedetto, Simona / Gagliardini, Roberta / Saracino, Annalisa et al. | 2016
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Dysthymia increases the risk of temporomandibular disorderLin, Shang-Lun / Wu, Shang-Liang / Ko, Shun-Yao / Lu, Ching-Hsiang / Wang, Diew-Wei / Ben, Ren-Jy / Horng, Chi-Ting / Yang, Jung-Wu et al. | 2016
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Persistent cutaneous abdominal ulcerations secondary to diffuse dermal angiomatosis: an underestimated sign for severe atherosclerosisGarcía-Colmenero, Lidia / Martin-Ezquerra, Gemma / Gómez-Martín, Ignacio / Mellado Joan, Meritxell / Barranco, Carlos / Albero-González, Raquel / Villar-García, Judith / Pujol, Ramon M. et al. | 2016
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First totally laparoscopic ALPPS procedure with selective hepatic artery clampingSurjan, Rodrigo C. / Makdissi, Fabio F. / Basseres, Tiago / Leite, Denise / Charles, Luiz F. / Bezerra, Regis O. / Schadde, Erik / Machado, Marcel Autran et al. | 2016
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Reamed versus unreamed intramedullary nailing for the treatment of femoral fracturesLi, A-Bing / Zhang, Wei-Jiang / Guo, Wei-Jun / Wang, Xin-Hua / Jin, Hai-Ming / Zhao, You-Ming et al. | 2016
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Upregulation of Talin-1 expression associates with advanced pathological features and predicts lymph node metastases and biochemical recurrence of prostate cancerXu, Ning / Chen, Hui-Jun / Chen, Shao-Hao / Xue, Xue-Yi / Chen, Hong / Zheng, Qing-Shui / Wei, Yong / Li, Xiao-Dong / Huang, Jin-Bei / Cai, Hai et al. | 2016
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Hydrogel-coated ventricular catheters for high-risk patients receiving ventricular peritoneum shuntXu, Hao / Huang, Yimin / Jiao, Wei / Sun, Wei / Li, Ran / Li, Jiaqing / Lei, Ting et al. | 2016
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Treatment of bilateral idiopathic trigeminal neuralgia by radiofrequency thermocoagulation at different temperaturesYao, Peng / Hong, Tao / Wang, Zhi-bin / Ma, Jia-ming / Zhu, Yong-qiang / Li, Hong-xi / Ding, Yuan-yuan / Jiang, Chang-lin / Pan, Shi-nong et al. | 2016
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A case report of isolated lymphadenopathy revealing localized leishmanial lymphadenopathy in an asthenic 25-year-old manHurlot, Quentin / Fillaux, Judith / Laurent, Camille / Berry, Antoine / Hofman, Paul / Marchou, Bruno / Delobel, Pierre / Brousset, Pierre / Martin-Blondel, Guillaume et al. | 2016
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Consensual ophthalmotonic reaction in Chinese patients following augmented trabeculectomy or ExPRESS shunt implantationShum, Jennifer W.H. / Choy, Bonnie N.K. / Ho, Wing Lau / Chan, Jonathan C.H. / Lai, Jimmy S.M. et al. | 2016
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Perioperative transfusion of leukocyte depleted blood products in gastric cancer patients negatively influences oncologic outcomeReim, Daniel / Strobl, Andreas N. / Buchner, Christian / Schirren, Rebekka / Mueller, Werner / Luppa, Peter / Ankerst, Donna Pauler / Friess, Helmut / Novotny, Alexander et al. | 2016
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Helicobacter pylori infection in women with Hashimoto thyroiditisShmuely, Haim / Shimon, Ilan / Gitter, Limor Azulay et al. | 2016
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Well-differentiated neuroendocrine tumor of the stomachGumuscu, Burak / Norwood, Kevin / Parker, George A. / Bridges, C. Lee / Rountree, Carl B. et al. | 2016
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Prevalence and risk factors of posttraumatic stress disorder among teachers 3 months after the Lushan earthquakeZhang, Jun / Zhang, Ye / Du, Changhui / Zhu, Shenyue / Huang, Yalin / Tian, Yulian / Chen, Decao / Li, Haimin / Gong, Yao / Zhang, Mengmeng et al. | 2016
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Total time of operation is a risk factor of stroke-associated pneumonia in acute ischemic stroke patients with intra-arterial treatmentLiu, Rui / Li, Wei / Li, Yaoyang / Han, Yunfei / Ma, Minmin / Zhu, Wusheng / Li, Min / Dai, Qiliang / Cao, Yuezhou / Xu, Gelin et al. | 2016
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Impact of sex disparities on the clinical manifestations in patients with systemic lupus erythematosusBoodhoo, Kamini Devi / Liu, Sijia / Zuo, Xiaoxia et al. | 2016
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Initial misdiagnosis of melanoma located on the foot is associated with poorer prognosisSondermann, Wiebke / Zimmer, Lisa / Schadendorf, Dirk / Roesch, Alexander / Klode, Joachim / Dissemond, Joachim et al. | 2016
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Association between open or closed reduction and avascular necrosis in developmental dysplasia of the hipWang, Ya-Jie / Yang, Fan / Wu, Qi-Jun / Pan, Shi-Nong / Li, Lian-Yong et al. | 2016
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Resting state functional MRI reveals abnormal network connectivity in orthostatic tremorBenito-León, Julián / Louis, Elan D. / Manzanedo, Eva / Hernández-Tamames, Juan Antonio / Álvarez-Linera, Juan / Molina-Arjona, José Antonio / Matarazzo, Michele / Romero, Juan Pablo / Domínguez-González, Cristina / Domingo-Santos, Ángela et al. | 2016
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Epidemiologic characteristics of 10 years hospitalized patients with glaucoma at shanghai eye and ear, nose, and throat hospitalZheng, Yingying / Zhang, Yuqiu / Sun, Xinghuai et al. | 2016
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