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在“Elsevier电子期刊”中，命中：55,158条，耗时：小于0.01 秒

1.Digenic mutations involving both the BSND and GJB2 genes detected in Bartter syndrome type IV

作者：Hong-han Wang^a ; Yong Feng^b ; ^c ; ^d ; Hai-bo Li^e ; Hong Wu^b ; Ling-yun Mei^b ; Xing-wei Wang^b ; Lu Jiang^b ; Chu-feng He^b ; ^{hechufeng2013@163.com}

关键词：Bartter syndrome ; Sensorineural deafness ; BSND ; GJB2 ; Digenic mutations

刊名：International Journal of Pediatric Otorhinolaryngology

出版年：2017

2.Novel and prevalent CYP11B1 gene mutations in Turkish patients with 11-β hydroxylase deficiency

作者：Nurgun Kandemir^a ; ^{nurgun.kandemir@gmail.com} ; ^{nkandemi@hacettepe.edu.tr} ; Didem Yucel Yilmaz^b ; E.Nazli Gonc^a ; Alev Ozon^a ; Ayfer Alikasifoglu^a ; Ali Dursun^b ; R.Koksal Ozgul^b

关键词：Congenital adrenal hyperplasia ; CYP11B1 ; 11beta-hydroxylase deficiency ; CYP11B1 novel mutations

刊名：The Journal of Steroid Biochemistry and Molecular Biology

出版年：2017

3.Higher prevalence of cancer related mutations 1762T/1764A and PreS deletions in hepatitis B virus (HBV) isolated from HBV/HIV co-infected compared to HBV-mono-infected Chinese adults

作者：Kai-Wen Li^a ; ^b ; Anna Kramvis^c ; Shujia Liang^a ; Xiang He^d ; Qin-Yan Chen^a ; Chao Wang^a ; Qing-Li Yang^a ; Li-Ping Hu^a ; ^b ; Hui-Hua Jia^a ; ^b ; Zhong-Liao Fang^a ; ^{zhongliaofang@hotmail.com}

关键词：Hepatitis B virus (HBV) ; Human immunodeficiency virus (HIV) ; Co-infection ; Mutations ; Prevalaence ; Genotype

刊名：Virus Research

出版年：2017

4.Splicing factor gene mutations in the myelodysplastic syndromes: impact on disease phenotype and therapeutic applications

作者：Andrea Pellagatti ; ^{andrea.pellagatti@ndcls.ox.ac.uk} ; Jacqueline Boultwood ; ^{jacqueline.boultwood@ndcls.ox.ac.uk}

关键词：Myelodysplastic syndromes ; Splicing factor gene ; Mutations ; RNA splicing

刊名：Advances in Biological Regulation

出版年：2017

5.Evaluation of a new commercial real-time PCR assay for diagnosis of Pneumocystis jirovecii pneumonia and identification of dihydropteroate synthase (DHPS) mutations

作者：Isabel Montesinos^a ; ^{Carlota.Montesinos@erasme.ulb.ac.be} ; ^{carlotamontesinos@terra.com} ; Marie-Luce Delforge^a ; ^{Marie-Luce.Delforge@erasme.ulb.ac.be} ; Farida Ajjaham^a ; ^{Farida.Ajjaham@erasme.ulb.ac.be} ; Franç ; oise Brancart^a ; ^{francoise.brancart@uclouvain.be} ; Maya Hites^b ; ^{Maya.Hites@erasme.ulb.ac.be} ; Frederique Jacobs^b ; ^{Frederique.Jacobs@erasme.ulb.ac.be} ; Olivier Denis^a ; ^{odenis@ulb.ac.be}

关键词：Pneumocystis jirovecii pneumonia ; Commercial real-time PCR ; DHPS mutations ; Trimethoprim-sulfamethoxazole resistance

刊名：Diagnostic Microbiology and Infectious Disease

出版年：2017

6.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

7.ESR1 mutations: Moving towards guiding treatment decision-making in metastatic breast cancer patients

作者：Lindsay Angus ; ¹ ; ^{l.angus@erasmusmc.nl} ; Nick Beije¹ ; Agnes Jager ; John W.M. Martens ; Stefan Sleijfer

关键词：ESR1 mutations ; Metastatic breast cancer ; Endocrine resistance ; Cell-free DNA

刊名：Cancer Treatment Reviews

出版年：2017

8.Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations

作者：Stephanie N. Oprescu^a ; Laurie B. Griffin^b ; ^c ; Asim A. Beg^d ; Anthony Antonellis^a ; ^b ; ^{antonell@umich.edu}

关键词：Aminoacyl-tRNA synthetases ; Mendelian disease ; Charcot-Marie-Tooth (CMT) disease ; Peripheral neuropathy ; Neurodevelopmental disease ; Functional evaluation of disease-associated mutations

刊名：Methods

出版年：2017

9.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

10.BRAF exon 15 mutations in pediatric renal stromal tumors: prevalence in metanephric stromal tumors

作者：Lily Marsden ; MD ; Lawrence J. Jennings ; MD ; PhD ; Samantha Gadd ; PhD ; Min Yu ; PhD ; Elizabeth J. Perlman ; MD ; Mariana M. Cajaiba ; MD ; ^{mcajaiba@luriechildrens.org} ; ^{maricajaiba@gmail.com}

关键词：Pediatric renal tumors ; Metanephric stromal tumor ; Congenital mesoblastic nephroma ; Ossifying renal tumor of infancy ; BRAF gene

刊名：Human Pathology

出版年：2017

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