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在“Elsevier电子期刊”中，命中：1,200条，耗时：0.0979558 秒

在所有数据库中总计命中：24,260条

1.BRAF, NRAS, KIT, TERT, GNAQ/GNA11 mutation profile analysis of head and neck mucosal melanomas: a study of 42 cases

作者：Şule Ö ; ztü ; rk Sari¹ ; ^{suleozturksari@gmail.com} ; İsmaİl Yilmaz² ; Orhun Ç ; iğ Taşkin¹ ; Gİzem Narli² ; Fatma Şen³ ; Şenol Ç ; omoğlu⁴ ; Pinar Firat¹ ; Bİlge Bİlgİç ; ¹ ; Dİlek Yilmazbayhan¹ ; Yasemİn Ö ; zlü ; k¹ ; Nesİmİ Bü ; yü ; kbabanİ¹

关键词：Mucosal melanoma ; sinonasal melanoma ; oral melanoma ; head and neck ; mutation ; TERT ; BRAF ; NRAS ; KIT ; GNAQ/GNA11

刊名：Pathology

出版年：2017

2.Novel presenilin 1 mutation (p.F386I) in a Chinese family with early-onset Alzheimer's disease

作者：Yat-Fung Shea^a ; ^{syf321@ha.org.hk} ; Angel On-Kei Chan^b ; Leung-Wing Chu^a ; ^c ; Shui-Ching Lee^a ; Chun-yin Law^b ; Chung-him See^b ; Kit-ling Yiu^b ; Patrick Ka-Chun Chiu^a

关键词：Autosomal dominant ; Chinese ; Familial Alzheimer's disease ; Mutation ; Presenilin 1

刊名：Neurobiology of Aging

出版年：2017

3.Characteristics and Survival Outcome Analysis of Extramedullary Involvement in Adult Patients With t(8;21) Acute Myeloid Leukemia

作者：Sung-Soo Park ; Jae-Ho Yoon ; Hee-Je Kim ; ^{cumckim@catholic.ac.kr} ; Young-Woo Jeon ; Sung-Eun Lee ; Byung-Sik Cho ; Ki-Seong Eom ; Yoo-Jin Kim ; Seok Lee ; Chang-Ki Min ; Seok-Goo Cho ; Dong-Wook Kim ; Jong-Wook Lee ; Woo-Sung Min

关键词：Central nervous system ; c-kit ; Core-binding factor ; Extramedullary ; Hematopoietic cell transplantation

刊名：Clinical Lymphoma Myeloma and Leukemia

出版年：2017

4.Constitutive Kit activity triggers B-cell acute lymphoblastic leukemia-like disease in mice

作者：Robin R. Weidemann^a ; Rayk Behrendt^a ; Kristina B. Schoedel^a ; Werner Mü ; ller^b ; Axel Roers^a ; Alexander Gerbaulet^a ; ^{alexander.gerbaulet@tu-dresden.de}

刊名：Experimental Hematology

出版年：2017

5.Prevalence and clinical features of Fabry disease in Japanese male patients with diagnosis of hypertrophic cardiomyopathy

作者：Toru Kubo ; MD ; FJCC^a ; ^{jm-kubotoru@kochi-u.ac.jp} ; Yuri Ochi ; MD^a ; Yuichi Baba ; MD^a ; Takayoshi Hirota ; MD^a ; Katsutoshi Tanioka ; MD^a ; Naohito Yamasaki ; MD^a ; Makoto Yoshimitsu ; MD^b ; Koji Higuchi ; MD^b ; Toshihiro Takenaka ; MD ; FJCC^b ; Kimiko Nakajima ; MD^c ; Tadayasu Togawa ; PhD^d ; Takahiro Tsukimura ; PhD^d ; Shigetoshi Sano ; MD^c ; Chuwa Tei ; MD ; FJCC^b ; Hitoshi Sakuraba ; MD^e ; Hiroaki Kitaoka ; MD ; FJCC^a

关键词：Fabry disease ; Hypertrophic cardiomyopathy ; Prevalence

刊名：Journal of Cardiology

出版年：2017

6.Sake yeast YHR032W/ERC1 haplotype contributes to high S-adenosylmethionine accumulation in sake yeast strains

作者：Muneyoshi Kanai¹ ; ^&Dagger ; ; ^{kanai@nrib.go.jp} ; Tomoko Kawata¹ ; ² ; Yoshie Yoshida¹ ; Yasuko Kita¹ ; Takafumi Ogawa³ ; Masaki Mizunuma³ ; Daisuke Watanabe¹ ; ^§ ; ; Hitoshi Shimoi¹ ; ^§ ; § ; ; Akihiro Mizuno¹ ; Osamu Yamada¹ ; Tsutomu Fujii¹ ; ² ; Haruyuki Iefuji¹ ; ² ; ^§ ; § ; § ; ; ^&Dagger ;

关键词：Sake yeast ; Laboratory yeast ; S-adenosylmethionine ; Quantitative trait locus ; Single-nucleotide polymorphisms

刊名：Journal of Bioscience and Bioengineering

出版年：2017

7.Analysis of c-KIT exon 11 mutations in canine gastrointestinal stromal tumours

作者：M. Takanosu^a ; ^{volkerhall@me.com" class="auth_mail" title="E-mail the corresponding author} ; S. Amano^b ; Y. Kagawa^b

关键词：Canine ; c-KIT ; Gastrointestinal stromal tumours ; Immunohistochemistry ; Mutation

刊名：The Veterinary Journal

出版年：2016

8.SMARCB1/INI1-deficient sinonasal carcinoma shows methylation of RASSF1 gene: A clinicopathological, immunohistochemical and molecular genetic study of a recently described entity

作者：Jan Laco^a ; ^{lacoj@lfhk.cuni.cz} ; Marcela Chmelařová ; ^b ; Hana Vo&scaron ; miková ; ^a ; Kateřina Sieglová ; ^a ; Ivana Bubancová ; ^b ; Pavel Dundr^c ; Kristý ; na Němejcová ; ^c ; Jaroslav Michá ; lek^d ; Petr Čelakovský ; ^e ; Radovan Mottl^f ; Igor Sirá ; k^g ; Milan Vo&scaron ; mik^g ; Ale&scaron ; Ry&scaron ; ka^a

关键词：Sinonasal tract ; Squamous cell carcinoma ; SMARCB1/INI1 ; RASSF1 ; Rhabdoid ; DNA methylation

刊名：Pathology - Research and Practice

出版年：2017

9.Gastric GISTs: Analysis of c-Kit, PDGFRA and BRAF mutations in relation to prognosis and clinical pathological characteristics of patients - A GIRCG study

作者：L. Capelli^a ; E. Petracci^b ; V. Quagliuolo^c ; L. Saragoni^d ; P. Colombo^e ; P. Morgagni^f ; D. Calistri^a ; A. Tomezzoli^g ; M. Di Cosmo^h ; F. Rovielloⁱ ; C. Vindigni^j ; A. Coniglio^k ; V. Villanacci^l ; M. Catarci^m ; L. Coppolaⁿ ; S. Alfieri^o ; R. Ricci^p ; C. Capella^q ; S. Rausei^r ; D. Gulino^b ; D. Amadori^s ; P. Ulivi^a ; ^{paola.ulivi@irst.emr.it" class="auth_mail" title="E-mail the corresponding author} ; on behalf of the Italian Gastric Cancer Research Group (GIRCG)

关键词：GISTs ; KIT ; PDGFRA ; BRAF ; Prognostic factors ; Mutation

刊名：European Journal of Surgical Oncology (EJSO)

出版年：2016

10.Molecular cytology genotyping of primary and metastatic GI stromal tumors by using a custom two-gene targeted next-generation sequencing panel with therapeutic intent

作者：Ferga C. Gleeson ; MD¹ ; ; Sarah E. Kerr ; MD² ; Benjamin R. Kipp ; MD² ; Jesse S. Voss ; MD² ; Douglas M. Minot ; MD² ; Zheng Jin Tu ; MD³ ; Michael R. Henry ; MD² ; George Vasmatzis ; MD⁴ ; John C. Cheville ; MD⁴ ; Konstantinos N. Lazaridis ; MD¹ ; ⁴ ; Michael J. Levy ; MD¹

关键词：FFPE ; formalin-fixed paraffin-embedded ; KIT ; mast/stem cell growth factor receptor Kit gene ; NGS ; next-generation sequencing ; PCR ; polymerase chain reaction ; PDGFRA ; platelet-derived growth factor receptor A ; SDH ; succinate dehydrogenase ; WT ; wild-type (no KIT or PDGFRA somatic mutation detected)

刊名：Gastrointestinal Endoscopy

出版年：2016

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