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在“Elsevier电子期刊”中，命中：2,787条，耗时：0.0219902 秒

在所有数据库中总计命中：12,272条

1.Somatic mutations in cancer: Stochastic versus predictable

作者：Barry Gold ^{goldbi@pitt.edu}

关键词：Somatic mutations ; Cancer ; DNA methylation ; Deamination

刊名：Mutation Research/Genetic Toxicology and Environmental Mutagenesis

出版年：2017

2.Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations

作者：Julie Soblet¹ ; Jaakko Kangas² ; Marjut Nä ; tynki² ; Antonella Mendola¹ ; Raphaë ; l Helaers¹ ; Melanie Uebelhoer¹ ; Mika Kaakinen² ; Maria Cordisco³ ; ¹⁷ ; Anne Dompmartin⁴ ; Odile Enjolras⁵ ; ¹⁸ ; Simon Holden⁶ ; ¹⁹ ; Alan D. Irvine⁷ ; Loshan Kangesu⁸ ; Christine Lé ; auté ; -Labrè ; ze⁹ ; Agustina Lanoel³ ; Zerina Lokmic¹⁰ ; Saskia Maas¹¹ ; Maeve A. McAleer⁷ ; Anthony Penington¹⁰ ; Paul Rieu¹² ; Samira Syed¹³ ; Carine van der Vleuten¹⁴ ; Rosemarie Watson⁷ ; Steven J. Fishman¹⁵ ; John B. Mulliken¹⁵ ; Lauri Eklund² ; Nisha Limaye¹ ; Laurence M. Boon¹ ; ¹⁶ ; Miikka Vikkula¹ ; ^{miikka.vikkula@uclouvain.be}

关键词：BRBN ; blue rubber bleb nevus syndrome ; GFP ; green fluorescent protein ; HUVEC ; human umbilical vein endothelial cell ; VM ; venous malformation ; VMCM ; cutaneomucosal venous malformation

刊名：Journal of Investigative Dermatology

出版年：2017

3.Identification of novel mutations in Japanese ovarian clear cell carcinoma patients using optimized targeted NGS for clinical diagnosis

作者：Yoshiaki Maru^a ; ^b ; Naotake Tanaka^c ; Miki Ohira^d ; Makiko Itami^e ; Yoshitaka Hippo^a ; Hiroki Nagase^b ; ^f ; ^{hnagase@chiba-cc.jp}

关键词：Somatic mutations ; Next-generation sequencing ; Clinical sequencing ; FFPE ; Ovarian clear cell carcinoma

刊名：Gynecologic Oncology

出版年：2017

4.Proteome-Scale Investigation of Protein Allosteric Regulation Perturbed by Somatic Mutations in 7,000 Cancer Genomes

作者：Qiancheng Shen¹ ; ⁸ ; Feixiong Cheng² ; ³ ; ⁶ ; ⁷ ; ⁸ ; Huili Song¹ ; Weiqiang Lu⁴ ; Junfei Zhao³ ; Xiaoli An¹ ; Mingyao Liu⁴ ; Guoqiang Chen¹ ; Zhongming Zhao⁵ ; ^{zhongming.zhao@uth.tmc.edu} ; Jian Zhang¹ ; ^{jian.zhang@sjtu.edu.cn}

刊名：The American Journal of Human Genetics

出版年：2017

5.Integrating Genomics in Myelodysplastic Syndrome to Predict Outcomes After Allogeneic Hematopoietic Cell Transplantation

作者：Samah Nassereddine¹ ; Taiga Nishihori² ; ⁴ ; Eric Padron³ ; ⁴ ; Rami Mahfouz⁵ ; Ali Bazarbachi⁶ ; Rami S. Komrokji³ ; ⁴ ; Mohamed A. Kharfan-Dabaja² ; ⁴ ; ^{Mohamed.Kharfan-Dabaja@Moffitt.org}

关键词：Hematopoietic cell allografting ; MDS ; Next generation sequencing ; Somatic mutation ; Survival

刊名：Clinical Lymphoma Myeloma and Leukemia

出版年：2017

6.Mutational Analysis of Recurrent Meningioma Progressing From Atypical to Rhabdoid Subtype

作者：Mateusz Bujko¹ ; ^{mbujko@coi.waw.pl} ; Marcin M. Machnicki⁴ ; ⁵ ; Emilia Grecka¹ ; Nataliia Rusetska¹ ; Ewa Matyja⁷ ; Paulina Kober¹ ; Tomasz Mandat² ; Małgorzata Rydzanicz⁶ ; Rafał Płoski⁶ ; Romuald Krajewski³ ; Wieslaw Bonicki² ; Tomasz Stokłosa⁴ ; Janusz A. Siedlecki¹

关键词：Anaplastic ; Atypical ; Meningioma ; Progression ; Rhabdoid ; Somatic mutation

刊名：World Neurosurgery

出版年：2017

7.Somatic KCNJ5 mutation occurring early in adrenal development may cause a novel form of juvenile primary aldosteronism

作者：Ai Tamura^a ; ¹ ; Koshiro Nishimoto^d ; ^e ; ¹ ; ^{k.nishimoto@keio.jp} ; Tsugio Seki^h ; Yoko Matsuzawa^a ; Jun Saito^a ; Masao Omura^a ; Celso E. Gomez-Sanchezⁱ ; Kohzoh Makita^a ; ^j ; Seishi Matsui^b ; Nobukazu Moriya^b ; Atsushi Inoue^c ; Maki Nagata^c ; Hironobu Sasano^k ; Yasuhiro Nakamura^k ; Yuto Yamazaki^k ; Yasuaki Kabe^e ; Kuniaki Mukai^e ; ^g ; Takeo Kosaka^f ; Mototsugu Oya^f ; Sachiko Suematsu^a ; Tetsuo Nishikawa^a ; ^{tetsuon@yokohamah.rofuku.go.jp}

关键词：Genetic mosaicism ; KCNJ5 ; Primary aldosteronism ; Juvenile

刊名：Molecular and Cellular Endocrinology

出版年：2017

8.Shared Oncogenic Pathways Implicated in Both Virus-Positive and UV-Induced Merkel Cell Carcinomas

作者：Marí ; a del Carmen Gonzá ; lez-Vela¹ ; ² ; ¹⁷ ; Soraya Curiel-Olmo² ; ¹⁷ ; Sophia Derdak³ ; ¹⁴ ; Sergi Beltran³ ; ¹⁴ ; Miguel Santibañ ; ez⁴ ; Nerea Martí ; nez² ; Alfredo Castillo-Trujillo⁵ ; Martha Gut³ ; ¹⁴ ; Roxana Sá ; nchez-Pacheco¹ ; Carmen Almaraz² ; Laura Cereceda² ; Beatriz Llombart⁶ ; Antonio Agraz-Doblas⁷ ; ¹⁶ ; José ; Revert-Arce² ; José ; Antonio Ló ; pez Guerrero⁸ ; Manuela Mollejo⁹ ; Pablo Isidro Marró ; n¹⁰ ; Pablo Ortiz-Romero¹¹ ; Lynnette Fernandez-Cuesta¹² ; ¹⁵ ; Ignacio Varela⁷ ; Ivo Gut³ ; ¹⁴ ; Lorenzo Cerroni¹³ ; Miguel Á ; ngel Piris¹ ; ² ; ¹⁸ ; José ; Pedro Vaqué ; ² ; ⁷ ; ¹⁸ ; ^{vaquej@unican.es}

关键词：IHC ; immunohistochemistry ; KEGG ; Kyoto Encyclopedia of Genes and Genomes ; MCC ; Merkel cell carcinoma ; MCPyV ; Merkel cell polyomavirus ; NFAT ; nuclear factor of activated T cells ; P-CREB ; phosphorylated CRE-binding protein ; P-STAT ; phosphorylated signal transducer and activator of transcription ; RB ; retinoblastoma ; RTK ; receptor with tyrosine kinase activity ; SSM ; somatic single-base mutation

刊名：Journal of Investigative Dermatology

出版年：2017

9.DICER1 hotspot mutations in ovarian Sertoli-Leydig cell tumors: a potential association with androgenic effects

作者：Noriko Kato ; MD ; PhD^a ; ^{nor-kato@hirosaki-u.ac.jp} ; Tomomi Kusumi ; MD ; PhD^b ; Akihisa Kamataki ; PhD^a ; Rikiya Tsunoda ; MD ; PhD^c ; Masayuki Fukase ; MD ; PhD^d ; Akira Kurose ; MD ; PhD^a

关键词：DICER1 ; Ovary ; Sertoli-Leydig cell tumors ; Androgen ; Heterologous elements

刊名：Human Pathology

出版年：2017

10.Spectrum of mutations in leiomyosarcomas identified by clinical targeted next-generation sequencing

作者：Paul J Lee^a ; ¹ ; Naomi S. Yoo^a ; ¹ ; Ian S. Hagemann^a ; John D Pfeifer^a ; Catherine E Cottrell^a ; ² ; Haley J Abel^b ; Eric J Duncavage^a ; ^{EDuncavage@path.wustl.edu}

关键词：Leiomyosarcoma ; Molecular diagnostics ; Deep sequencing ; DNA mutational analysis ; Copy number alterations ; DNA sequencing ; Single nucleotide variant

刊名：Experimental and Molecular Pathology

出版年：2017

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