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Molecular Genetics Genomic Medicine

【机译】：分子遗传学基因组医学

ISSN：-
出版周期：Bimonthly
语言：English

起始发布年份：2013
出版者：[Hoboken, NJ] : John Wiley & Sons, [2013]-
出版地：United States

数据库引入：PubMed: v1n1, 2013-, PMC

MeSH词表主题词：Genetics, Medical*; Genomics

备注：Description based on: Volume 1, issue 1 (May 2013); title from journal home page展开▼

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1.A comparison of genomic laboratory reports and observations that may enhance their clinical utility for providers and patients

机译：基因组实验室报告和观察结果的比较可能会增强提供者和患者的临床效用
- 作者：Kyle Walter Davis;Lori Hamby Erby;Katie Fiallos;Megan Martin;Edward Robert Wassman
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第7期
- genetic testing genomics health communication health literacy laboratory reports patient communication physician–patient relations provider communication shared decision making;
2.Effect quantification and value prediction of factors in noninvasive detection for specific fetal copy number variants by semiconductor sequencing

机译：通过半导体测序对特定胎儿拷贝数变异体进行无创检测的因素量化和价值预测
- 作者：Chunhua Zhang;Bo Liang;Longwei Qiao;Liming Xuan;Hong Li;Quanze He;Xiaojuan Wu;Jiafeng Lu;Bin Yu;Ting Wang
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第7期
- fetal copy number variants microdeletion next generation sequencing noninvasive prenatal testing;
3.Exome sequencing revealed a novel loss‐of‐function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly

机译：外显子组测序揭示了GLI3转录激活子2域中的一个新的功能丧失变异体是非综合征性后轴多聚体的基础
- 作者：Muhammad Umair;Naveed Wasif;Alia M. Albalawi;Khushnooda Ramzan;Majid Alfadhel;Wasim Ahmad;Sulman Basit
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第7期
- GLI3 loss‐of‐function variant PAPA polydactyly Sanger sequencing whole exome sequencing;
4.Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood‐onset beta‐mannosidosis

机译：婴幼儿期β-甘露糖苷病男孩脐带血移植后的生化和临床反应
- 作者：Troy C. Lund;Weston P. Miller;Julie B. Eisengart;Katrina Simmons;Laura Pollard;Deborah L. Renaud;David A. Wenger;Marc C. Patterson;Paul J Orchard
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第7期
- beta‐mannosidase beta‐mannosidosis storage disease umbilical cord blood transplant;
5.Clinical and molecular characterization of an 18‐month‐old infant with autosomal recessive cutis laxa type 1C due to a novel LTBP4 pathogenic variant and literature review

机译：新型LTBP4致病性变异导致18岁大的常染色体隐性角质层松弛型1C型婴儿的临床和分子表征并进行文献综述
- 作者：Marco Ritelli;Francisco Cammarata‐Scalisi;Valeria Cinquina;Marina Colombi
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第7期
- ARCL1C autosomal recessive cutis laxa type 1C latent transforming growth factor‐beta binding protein 4 LTBP4;
6.The human amniotic fluid mesenchymal stem cells therapy on SKOV3 ovarian cancer cell line

机译：人羊水间充质干细胞对SKOV3卵巢癌细胞系的治疗
- 作者：Shiva Gholizadeh‐Ghaleh Aziz;Zahra Fardyazar;Maryam Pashaiasl
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第7期
- anticancer therapy apoptotic genes cell cycle genes co‐culture human amniotic fluid mesenchymal stem cells (hAFMSCs) SKOV3;
7.Influence of glutathione S‐transferases (GSTM1 GSTT1 and GSTP1) genetic polymorphisms and smoking on susceptibility risk of chronic myeloid leukemia and treatment response

机译：谷胱甘肽S-转移酶（GSTM1GSTT1和GSTP1）遗传多态性和吸烟对慢性粒细胞白血病易感性风险和治疗反应的影响
- 作者：Golale Rostami;Dlnya Assad;Fatemeh Ghadyani;Mohammad Hamid;Amirhossien Karami;Hasan Jalaeikhoo;Ramezan Ali Kalahroodi
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第7期
- chronic myeloid leukemia genetic polymorphisms glutathione S‐transferases smoking status treatment responses;
8.Identification of a de novo FOXP1 mutation and incidental discovery of inherited genetic variants contributing to a case of autism spectrum disorder and epilepsy

机译：从头发现FOXP1突变的鉴定以及偶然发现的遗传性变异导致自闭症谱系障碍和癫痫的案例
- 作者：Kristy Jay;Amit Mitra;Taylor Harding;David Matthes;Brian Van Ness
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第7期
- COMT FOXP1 SLC6A4 structural variants whole genome/exome sequencing;
9.Identification of novel compound heterozygous mutations in ACO2 in a patient with progressive cerebral and cerebellar atrophy

机译：进行性脑小脑萎缩患者中ACO2的新型复合杂合突变的鉴定
- 作者：Masahide Fukada;Keitaro Yamada;Shima Eda;Ken Inoue;Chihiro Ohba;Naomichi Matsumoto;Hirotomo Saitsu;Atsuo Nakayama
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第7期
- ACO2 aconitase TCA cycle mitochondria brain atrophy ataxia hypotonia;
10.Association of glypican‐6 polymorphisms with lumbar disk herniation risk in the Han Chinese population

机译：Glypican-6多态性与汉族人群腰椎间盘突出症风险的关系
- 作者：Baoyang Hu;Wenhua Xing;Feng Li;Zhi Huang;Wenkai Zheng;Demin Ji;Fanglin Niu;Yong Zhu;Xuejun Yang
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第7期
- case–control study GPC6 gene Han Chinese population lumbar disk herniation polymorphisms;
11.Diagnostic performance of circular RNAs in human cancers: A systematic review and meta‐analysis

机译：环状RNA在人类癌症中的诊断性能：系统评价和荟萃分析
- 作者：Juan Li;Hang Li;Xiaoting Lv;Zitai Yang;Min Gao;Yanhong Bi;Ziwei Zhang;Shengli Wang;Zhigang Cui;Baosen Zhou;Zhihua Yin
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第7期
- biomarker cancer CircRNA diagnosis;
12.Genetics and genomic medicine in Sri Lanka

机译：斯里兰卡的遗传学和基因组医学
- 作者：Nirmala D. Sirisena;Vajira H. W. Dissanayake
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- clinical genetics genetic testing genomic medicine genomics medical genetics;
13.Somatic mosaicism by a de novo MLH1 mutation as a cause of Lynch syndrome

机译：从头开始的MLH1突变引起的体细胞镶嵌症是Lynch综合征的病因
- 作者：Willemina R. Geurts‐Giele;Efraim H. Rosenberg;Anja van Rens;Monique E. van Leerdam;Winand N. Dinjens;Fonnet E. Bleeker
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第7期
- Lynch syndrome MLH1 mosaicism;
14.Cognitive and behavioral improvement in adults with fragile X syndrome treated with metformin‐two cases

机译：接受二甲双胍治疗的易碎X综合征成年人的认知和行为改善
- 作者：Dragana Protic;Elber Y. Aydin;Flora Tassone;Maria M. Tan;Randi J. Hagerman;Andrea Schneider
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第7期
- cognition improvement fragile X syndrome metformin targeted treatment;
15.Gene signature associated with neuro‐endocrine activity predicting prognosis of pancreatic carcinoma

机译：与神经内分泌活动相关的基因标志可预测胰腺癌的预后
- 作者：Ke Chen;Yiping He;Yuan Liu;Xiujiang Yang
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第7期
- carcinoma neuro‐endocrine pancreas prognosis TCGA;
16.Expanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments

机译：扩大V型成骨不全症的表型谱包括肌肉起源和附着的异位骨化
- 作者：Pantelis Clewemar;Nils P. Hailer;Yasmin Hailer;Joakim Klar;Andreas Kindmark;Östen Ljunggren;Eva‐Lena Stattin
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第7期
- BRIL heterotopic ossification IFITM5 Osteogenesis imperfecta type V;
17.Copy number alterations associated with clinical features in an underrepresented population with breast cancer

机译：在代表性不足的乳腺癌人群中与临床特征相关的拷贝数改变
- 作者：Raquel M. Rodrigues‐Peres;Benilton de S. Carvalho;Meenakshi Anurag;Jonathan T. Lei;Livia Conz;Rodrigo Gonçalves;Cássio Cardoso Filho;Susana Ramalho;Geisilene R. de Paiva;Sophie F. M. Derchain;Iscia Lopes‐Cendes;Matthew J. Ellis;Luis O. Sarian
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第7期
- breast cancer copy number alteration ethnicity family history mucinous stage;
18.Systematic genetic analyses of GWAS data reveal an association between the immune system and insomnia

机译：GWAS数据的系统遗传分析揭示了免疫系统与失眠之间的关联
- 作者：Bo Xiang;Kezhi Liu;Minglan Yu;Xuemei Liang;Chaohua Huang;Jin Zhang;Wenying He;Wei Lei;Jing Chen;Xiaochu Gu;Ke Gong
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第7期
- gene clusters GWAS hippocampus immune system insomnia;
19.MEIS1 knockdown may promote differentiation of esophageal squamous carcinoma cell line KYSE‐30

机译：MEIS1基因敲低可能会促进食管鳞癌KYSE-30细胞分化
- 作者：Reihaneh Alsadat Mahmoudian;Bahareh Bahadori;Abolfazl Rad;Mohammad Reza Abbaszadegan;Mohammad Mahdi Forghanifard
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第7期
- differentiation ESCC KYSE‐30 MEIS1 TWIST1;
20.Healthcare burden among individuals with Angelman syndrome: Findings from the Angelman Syndrome Natural History Study

机译：Angelman综合征患者的医疗保健负担：Angelman综合征自然史研究的发现
- 作者：Nasreen Khan;Raquel Cabo;Wen‐Hann Tan;Regina Tayag;Lynne M. Bird
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第7期
- healthcare burden healthcare costs healthcare resource utilization medical economics supportive therapy utilization;
21.Autosomal dominant mitochondrial membrane protein‐associated neurodegeneration (MPAN)

机译：常染色体显性线粒体膜蛋白相关性神经变性（MPAN）
- 作者：Allison Gregory;Mitesh Lotia;Suh Young Jeong;Rachel Fox;Dolly Zhen;Lynn Sanford;Jeff Hamada;Amir Jahic;Christian Beetz;Alison Freed;Manju A. Kurian;Thomas Cullup;Marlous C. M. van der Weijden;Vy Nguyen;Naly Setthavongsack;Daphne Garcia;Victoria Krajbich;Thao Pham;Randy Woltjer;Benjamin P. George;Kelly Q. Minks;Alexander R. Paciorkowski;Penelope Hogarth;Joseph Jankovic;Susan J. Hayflick
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第7期
- C19orf12 mitochondrial membrane protein‐associated neurodegeneration MPAN NBIA neurodegeneration with brain iron accumulation;
22.Identification of novel biomarkers and small molecule drugs in human colorectal cancer by microarray and bioinformatics analysis

机译：芯片和生物信息学分析鉴定大肠癌中新型生物标志物和小分子药物
- 作者：Juan Chen;Ziheng Wang;Xianjuan Shen;Xiaopeng Cui;Yuehua Guo
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第7期
- colorectal cancer bioinformatics biomarker drug;
23.Phenotypic features of a microdeletion in chromosome band 20p13: A case report and review of the literature

机译：20p13染色体带微缺失的表型特征：一例病例报告并文献复习
- 作者：Hung‐Hsiang Fang;Shih‐Yao Liu;Ying‐Fu Wang;Che‐Ming Chiang;Chiung‐Chen Liu;Chien‐Ming Lin
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第7期
- 20p13 array‐comparative genomic hybridization developmental delays microdeletion;
24.Exome sequencing identifies a KRT9 pathogenic variant in a Chinese pedigree with epidermolytic palmoplantar keratoderma

机译：外显子组测序在中国谱系中与表皮松解性掌plant角化病皮一起鉴定出KRT9致病变异
- 作者：Changxing Li;Pingjiao Chen;Silong Sun;Kang Zeng;Jingyao Liang;Qi Wang;Sanquan Zhang;Meinian Xu;Zhijia Li;Xibao Zhang
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第7期
- epidermolytic palmoplantar keratoderma exome sequencing Keratin 9;
25.Targeted fetal cell‐free DNA screening for aneuploidies in 4594 pregnancies: Single center study

机译：针对4594例妊娠中非整倍性的靶向胎儿无细胞DNA筛选：单中心研究
- 作者：Altug Koc;Ozge Ozer Kaya;Berk Ozyilmaz;Yasar B. Kutbay;Ozgur Kirbiyik;Taha R. Ozdemir;Kadri M. Erdogan;Merve Saka Guvenc;Deniz C. Oztekin;Mehmet Ozeren;Halil G. Pala;Atalay Ekin;Cenk Gezer;Alkim G. Sahingoz Yildirim;Bahar Konuralp Atakul;Secil Kurtulmus;Ugur Turhan;Cuneyt E. Taner
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第7期
- cfDNA screening NIPS NIPT;
26.The influence of ACYP2 polymorphisms on gastrointestinal cancer susceptibility in the Chinese Han population

机译：ACYP2基因多态性对中国汉族人群胃肠道癌易感性的影响
- 作者：Xianglong Duan;Jiajing Hong;Fuchun Wang;Kun Wei;Pengyuan Wang;Feng Hou;Min Zhang;Dengfeng Liu;Dongya Yuan;Sida Liu
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第7期
- ACYP2 gene case‐control study gastrointestinal cancer polymorphisms;
27.Ovarian reserve evaluation in a woman with 45X/47XXX mosaicism: A case report and a review of literature

机译：45X / 47XXX镶嵌症女性的卵巢储备评估：病例报告和文献复习
- 作者：Ruiyi Tang;Lin Lin;Zaixin Guo;Haiyan Hou;Qi Yu
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第7期
- 45X/47XXX mosaicism;
- fertility;
- karyotype;
- primary ovarian insufficiency;
- Turner syndrome;
28.A mutation in Site‐1 Protease is associated with a complex phenotype that includes episodic hyperCKemia and focal myoedema

机译：Site-1蛋白酶的突变与复杂的表型有关包括发作性高CKemia和局灶性肌水肿
- 作者：George G. Schweitzer;Connie Gan;Robert C. Bucelli;Daniel Wegner;Robert E. Schmidt;Marwan Shinawi;Brian N. Finck;Rita T. Brookheart
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第7期
- ER stress hyperCKemia MBTPS1 myoedema PCOS Site‐1 Protease SREBP;
29.Whole exome sequencing reveals novel LEPR frameshift mutation in severely obese children from Western India

机译：整个外显子组测序揭示了来自印度西部严重肥胖儿童的新型LEPR移码突变
- 作者：Arpan Bhatt;Charul Purani;Poonam Bhargava;Komal Patel;Tanvi Agarbattiwala;Apurvasinh Puvar;Krati Shah;Chaitanya G. Joshi;Nidhi Dhamecha;Mukund Prabhakar;Madhvi Joshi
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第7期
- consanguineous families leptin receptor morbid obesity novel mutation pathogenic mutation severe early onset of obesity whole exome sequencing;
30.The functional ALDH2 polymorphism is associated with breast cancer risk: A pooled analysis from the Breast Cancer Association Consortium

机译：功能性ALDH2多态性与乳腺癌风险相关：乳腺癌协会联合会的汇总分析
- 作者：Tomotaka Ugai;Roger L. Milne;Hidemi Ito;Kristan J. Aronson;Manjeet K. Bolla;Tsun Chan;Ching W. Chan;Ji‐Yeob Choi;Don M. Conroy;Joe Dennis;Alison M. Dunning;Douglas F. Easton;Valerie Gaborieau;Anna Gonzalez‐Neira;Mikael Hartman;Catherine S. Healey;Motoki Iwasaki;Esther M. John;Daehee Kang;Sung‐Won Kim;Ava Kwong;Artitaya Lophatananon;Kyriaki Michailidou;Nur Aishah Mohd Taib;Kenneth Muir;Sue K. Park;Paul D. P. Pharoah;Suleeporn Sangrajrang;Chen‐Yang Shen;Xiao‐Ou Shu;John J. Spinelli;Soo H. Teo;Daniel C. Tessier;Chiu‐Chen Tseng;Shoichiro Tsugane;Daniel Vincent;Qin Wang;Anna H. Wu;Pei‐Ei Wu;Wei Zheng;Keitaro Matsuo
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- acetaldehyde alcohol drinking aldehyde dehydrogenase‐2 breast cancer single nucleotide polymorphism;
31.Diverse phenotypes in children with PAX2‐related disorder

机译：PAX2相关疾病患儿的表型多样
- 作者：Haiyue Deng;Yanqin Zhang;Huijie Xiao;Yong Yao;Xiaoyu Liu;Baige Su;Hongwen Zhang;Ke Xu;Suxia Wang;Fang Wang;Jie Ding
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- children new phenotypes PAX2 gene renal coloboma syndrome;
32.Identifying gene mutations of Chinese patients with polycystic kidney disease through targeted next‐generation sequencing technology

机译：通过靶向下一代测序技术鉴定中国多囊肾患者的基因突变
- 作者：Tao Wang;Qinggang Li;Shunlai Shang;Guangrui Geng;Yuansheng Xie;Guangyan Cai;Xiangmei Chen
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- gene mutations next‐generation sequencing PKD targeted NGS panel;
33.A case of combined 21‐hydroxylase deficiency and CHARGE syndrome featuring micropenis and cryptorchidism

机译：一例21-羟化酶缺乏症和CHARGE综合征合并微阴茎和隐睾
- 作者：Satoko Umino;Miyuki Kitamura;Yuko Katoh‐Fukui;Maki Fukami;Takeshi Usui;Shuichi Yatsuga;Yasutoshi Koga
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- 21‐hydroxylase deficiency CHARGE syndrome cryptorchidism micropenis;
34.The Enamel Phenotype in Homozygous Fam83h Truncation Mice

机译：纯合Fam83h截短小鼠的搪瓷表型。
- 作者：Shih‐Kai Wang;Yuanyuan Hu;Charles E. Smith;Jie Yang;Chunhua Zeng;Jung‐Wook Kim;Jan C‐C. Hu;James P. Simmer
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- amelogenesis imperfecta hair defects knockout mouse neomorphic mechanism skin defects truncation mutation;
35.Transcriptome analysis identifies metallothionein as biomarkers to predict recurrence in hepatocellular cacinoma

机译：转录组分析鉴定金属硫蛋白作为预测肝细胞癌复发的生物标志物
- 作者：Sufang Wang;Michael Gribskov
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- biomarker de novo transcriptome assembly hepatocellular carcinoma metallothionein recurrence;
36.PMS2 germline mutation c.943CT (p.Arg315*)‐induced Lynch syndrome‐associated ovarian cancer

机译：PMS2种系突变c.943C T（p.Arg315 *）诱导的林奇综合征相关卵巢癌
- 作者：Xiaoqing Guo;Weimin Wu;Hao Gao;Xiaofeng Li;Qizhi He;Yong Zhu;Na Liu
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- Lynch syndrome nonsense mutation ovarian cancer PMS2 gene;
37.Genetic analysis in the bariatric clinic; impact of a PTEN gene mutation

机译：减肥诊所的基因分析； PTEN基因突变的影响
- 作者：Mellody I. Cooiman;Lotte Kleinendorst;Bert van der Zwaag;Ignace M. C. Janssen;Frits J. Berends;Mieke M. van Haelst
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- bariatric surgery PTEN gene PTEN hamartoma tumor syndrome sleeve gastrectomy;
38.Tooth defects of EEC and AEC syndrome caused by heterozygous TP63 mutations in three Chinese families and genotype‐phenotype correlation analyses of TP63‐related disorders

机译：中国三族杂合子TP63突变引起的EEC和AEC综合征牙齿缺损及与TP63相关疾病的基因型-表型相关性分析
- 作者：Jinglei Zheng;Haochen Liu;Yuan Zhan;Yang Liu;Sing‐Wai Wong;Tao Cai;Hailan Feng;Dong Han
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- AEC syndrome EEC syndrome genotype–phenotype correlation taurodontism TP63;
39.A risk assessment model of acute liver allograft rejection by genetic polymorphism of CD276

机译：CD276基因多态性的急性同种异体移植排斥反应的风险评估模型
- 作者：Xiaobo Yu;Bajin Wei;Rong Su;Jia Yao;Xiaowen Feng;Guoping Jiang;Haiyang Xie;Jian Wu;Xiao Xu;Min Zhang;Shusen Zheng;Lin Zhou
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- acute rejection CD276 costimulatory molecule liver transplantation SNP;
40.Long noncoding RNA NEAT1 regulates the development of osteosarcoma through sponging miR‐34a‐5p to mediate HOXA13 expression as a competitive endogenous RNA

机译：较长的非编码RNA NEAT1通过使miR‐34a‐5p海绵化来调节HOXA13的表达使其成为竞争性内源性RNA从而调节骨肉瘤的发育
- 作者：Shaolin Ji;Shunsheng Wang;Xiaodan Zhao;Li Lv
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- apoptosis long noncoding RNA osteosarcoma proliferation;
41.Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene

机译：进一步的支持将22q11.2微复制与膀胱萎缩的风险增加联系起来并突出显示LZTR1是候选基因
- 作者：Johanna Lundin;Ellen Markljung;Izabella Baranowska Körberg;Wolfgang Hofmeister;Jia Cao;Daniel Nilsson;Gundela Holmdahl;Gillian Barker;Magnus Anderberg;Vladana Vukojević;Anna Lindstrand;Agneta Nordenskjöld
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- array‐CGH bladder exstrophy confocal microscopy exome sequencing fluorescence spectrometry LZTR1 microduplication;
42.miR‐584‐5p regulates hepatocellular carcinoma cell migration and invasion through targeting KCNE2

机译：miR‐584‐5p通过靶向KCNE2调节肝癌细胞的迁移和侵袭
- 作者：Huamei Wei;Jianchu Wang;Zuoming Xu;Yuan Lu;Xianjian Wu;Chenyi Zhuo;Chuan Tan;Qianli Tang;Jian Pu
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- cell behaviors hepatocellular carcinoma KCNE2 miR‐584‐5p oncogenic miRNA;
43.Analysis of deletional hereditary persistence of fetal hemoglobin/δβ‐thalassemia and δ‐globin gene mutations in Southerwestern China

机译：西南地区胎儿血红蛋白/δβ地中海贫血的删除性遗传持续性和δ-珠蛋白基因突变分析
- 作者：Jie Zhang;Yang Yang;Peng Li;Yuanlong Yan;Tao Lv;Tingting Zhao;Xiaohong Zeng;Dongmei Li;Xiaoyan Zhou;Hong Chen;Jie Su;Tonghua Yang;Jing He;Baosheng Zhu
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- bioinformatics analysis capillary electrophoresis hereditary persistence of fetal hemoglobin δ‐thalassemia;
44.FANCC Dutch founder mutation in a Mennonite family from Tamaulipas México

机译：墨西哥墨西哥州塔毛利帕斯的门诺人家庭中的FANCC荷兰创始人突变
- 作者：Benilde García‐de Teresa;Sara Frias;Bertha Molina;María Teresa Villarreal;Alfredo Rodriguez;Alessandra Carnevale;Gerardo López‐Hernández;Lilia Vollbrechtshausen;Alberto Olaya‐Vargas;Leda Torres
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- FANCC FANCC c.67delG fanconi anemia Mennonite;
45.A familial case of pseudohypoaldosteronism type II (PHA2) with a novel mutation (D564N) in the acidic motif in WNK4

机译：WNK4酸性基序中有一个新突变（D564N）的II型假性低醛固酮增多症（PHA2）家族病例
- 作者：Takashi Sakoh;Akinari Sekine;Takayasu Mori;Hiroki Mizuno;Masahiro Kawada;Rikako Hiramatsu;Eiko Hasegawa;Noriko Hayami;Masayuki Yamanouchi;Tatsuya Suwabe;Naoki Sawa;Yoshifumi Ubara;Takuya Fujimaru;Eisei Sohara;Uchida Shinichi;Junichi Hoshino;Kenmei Takaichi
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- D564N familial case pseudohypoaldosteronism type II WNK4;
46.Cognition in adults with Williams syndrome—A 20‐year follow‐up study

机译：威廉姆斯综合征成人的认知能力-一项为期20年的随访研究
- 作者：Oili Sauna‐aho;Nina Bjelogrlic‐Laakso;Auli Sirén;Virpi Kangasmäki;Maria Arvio
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- aging cognition intellectual disability Williams syndrome;
47.Novel heterozygous BPIFC variant in a Chinese pedigree with hereditary trichilemmal cysts

机译：中国谱系中具有遗传性三足纲囊肿的新型杂合BPIFC变异体
- 作者：Xian‐Guo Fu;Zhao Huang;Su‐Juan Zhou;Jing Yang;Yun‐Juan Peng;Luo‐Yuan Cao;Hua Guo;Guang‐Hui Wu;Ying‐Hua Lin;Bao‐Ying Huang
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- hereditary trichilemmal cysts BPIFC whole‐exome sequencing;
48.A rapid and accurate methylation‐sensitive high‐resolution melting analysis assay for the diagnosis of Prader Willi and Angelman patients

机译：快速准确的甲基化敏感性高分辨率熔解分析法用于诊断Prader Willi和Angelman患者
- 作者：Igor Ribeiro Ferreira;Wilton Darleans dos Santos Cunha;Leonardo Henrique Ferreira Gomes;Hiago Azevedo Cintra;Letícia Lopes Cabral Guimarães Fonseca;Elenice Ferreira Bastos;Juan Clinton Llerena Jr.;Zilton Farias Meira de Vasconcelos;Letícia da Cunha Guida
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- Angelman syndrome high‐resolution melting MS‐HRM MS‐PCR Prader Willi syndrome;
49.Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice‐site and Charcot‐Marie‐Tooth phenotype with early onset symptoms

机译：全基因组测序揭示了新的IGHMBP2变体导致独特的隐伏剪接位点和Charcot-Marie-Tooth表型具有早期发作的症状
- 作者：Thomas A. Cassini;Laura Duncan;Lynette C. Rives;John H. Newman;John A. Phillips;Mary E. Koziura;Jennifer Brault;Rizwan Hamid;Joy Cogan;Christopher J Adams;David R Adams;Mercedes E Alejandro;Patrick Allard;Euan A Ashley;Mashid S Azamian;Carlos A Bacino;Ashok Balasubramanyam;Hayk Barseghyan;Alan H Beggs;Hugo J Bellen;Jonathan A Bernstein;David P Bick;Camille L Birch;Braden E Boone;Bret L Bostwick;Lauren C Briere;Donna M Brown;Matthew Brush;Elizabeth A Burke;Lindsay C Burrage;Katherine R Chao;Shan Chen;Gary D Clark;Cynthia M Cooper;William J Craigen;Mariska Davids;Jyoti G Dayal;Esteban C DellAngelica;Shweta U Dhar;Katrina M Dipple;Laurel A Donnell‐Fink;Naghmeh Dorrani;Daniel C Dorset;David D Draper;Annika M Dries;David J Eckstein;Lisa T Emrick;Christine M Eng;Cecilia Esteves;Tyra Estwick;Paul G Fisher;Trevor S Frisby;Kate Frost;William A Gahl;Valerie Gartner;Rena A Godfrey;Mitchell Goheen;Gretchen A Golas;David B Goldstein;Mary G Gordon;Sarah E Gould;Jean‐Philippe F Gourdine;Brett H Graham;Catherine A Groden;Andrea L Gropman;Mary E Hackbarth;Melissa Haendel;Neil A Hanchard;Lori H Handley;Isabel Hardee;Matthew R Herzog;Ingrid A Holm;Ellen M Howerton;Howard J Jacob;Mahim Jain;Yong‐hui Jiang;Jean M Johnston;Angela L Jones;Alanna E Koehler;David M Koeller;Isaac S Kohane;Jennefer N Kohler;Donna M Krasnewich;Elizabeth L Krieg;Joel B Krier;Jennifer E Kyle;Seema R Lalani;Lea Latham;Yvonne L Latour;C. Christopher Lau;Jozef Lazar;Brendan H Lee;Hane Lee;Paul R Lee;Shawn E Levy;Denise J Levy;Richard A Lewis;Adam P Liebendorfer;Sharyn A Lincoln;Joseph Loscalzo;Richard L Maas;Ellen F Macnamara;Calum A MacRae;Valerie V Maduro;May Christine V Malicdan;Laura A Mamounas;Teri A Manolio;Thomas C Markello;Paul Mazur;Alexandra J McCarty;Allyn McConkie‐Rosell;Alexa T McCray;Thomas O Metz;Matthew Might;Paolo M Moretti;John J Mulvihill;Jennifer L Murphy;Donna M Muzny;Michele E Nehrebecky;Stan F Nelson;J Scott Newberry;Sarah K Nicholas;Donna Novacic;Jordan S Orange;J Carl Pallais;Christina S Palmer;Jeanette C Papp;Loren M Pena;Jennifer E Posey;John H Postlethwait;Lorraine Potocki;Barbara N Pusey;Rachel B Ramoni;Lance H Rodan;Jill A Rosenfeld;Sarah Sadozai;Susan L Samson;Katherine E Schaffer;Kelly Schoch;Molly C Schroeder;Daryl A Scott;Prashant Sharma;Vandana Shashi;Edwin K Silverman;Janet S Sinsheimer;Ariane G Soldatos;Rebecca C Spillmann;Kimberly Splinter;Joan M Stoler;Nicholas Stong;Kimberly A Strong;Jennifer A Sullivan;David A Sweetser;Sara P Thomas;Cynthia J Tifft;Nathanial J Tolman;Camilo Toro;Alyssa A Tran;Tiina K Urv;Zaheer M Valivullah;Eric Vilain;Tiphanie P Vogel;Daryl M Waggott;Colleen E Wahl;Nicole M Walley;Chris A Walsh;Michael F Wangler;Patricia A Ward;Katrina M Waters;Bobbie‐Jo M Webb‐Robertson;Alec A Weech;Monte Westerfield;Matthew T Wheeler;Anastasia L Wise;Lynne A Wolfe;Elizabeth A Worthey;Shinya Yamamoto;Yaping Yang;Guoyun Yu;Jing Zhang;Patricia A Zornio
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- Charcot‐Marie‐Tooth IGHMBP2 intron splicing Undiagnosed Disease Network whole exome sequencing;
50.Estimation of CYP3A4*1B single nucleotide polymorphism in patients with recurrent Major Depressive Disorder

机译：复发性重度抑郁症患者CYP3A4 * 1B单核苷酸多态性的估计
- 作者：Rafał Świechowski;Agnieszka Jeleń;Marek Mirowski;Monika Talarowska;Piotr Gałecki;Jacek Pietrzak;Damian Wodziński;Ewa Balcerczak
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- cytochrome P450 Major Depression pharmacogenetics polymorphism;
51.BRPF1‐associated intellectual disability ptosis and facial dysmorphism in a multiplex family

机译：多重家庭中与BRPF1相关的智力障碍上睑下垂和面部畸形
- 作者：Naomi Pode‐Shakked;Ortal Barel;Ben Pode‐Shakked;Aviva Eliyahu;Amihood Singer;Omri Nayshool;Nitzan Kol;Annick Raas‐Rothschild;Elon Pras;Mordechai Shohat
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- blepharophimosis BRPF1 intellectual disability ptosis;
52.Identification of a complex genomic rearrangement in TMPRSS3 by massively parallel sequencing in Chinese cases with prelingual hearing loss

机译：大规模并行测序鉴定中国人舌前听力丧失病例中TMPRSS3的复杂基因组重排
- 作者：Xinlei Li;Bo Tan;Xiaoqian Wang;Xiaofei Xu;Cuicui Wang;Mingjun Zhong;Qiuling Zhao;Zhongwei Bao;Weihua Peng;Lei Zhang;Jing Cheng;Yu Lu;Peina Wu;Huijun Yuan
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- copy number variation hearing loss massively parallel sequencing rearrangement TMPRSS3;
53.Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans

机译：扩展FGFR3中复发性p.Ala391Glu变体的表型：超越克鲁索综合征和黑棘皮病
- 作者：Karen Rymer;Rita Shiang;Anting Hsiung;Arti Pandya;Tim Bigdeli;Bradley T. Webb;Jennifer Rhodes
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- craniosynostosis Crouzon FGFR3 Pfeiffer;
54.Myeloid malignancies‐related somatic mutations in aging individuals

机译：老年人中与骨髓恶性肿瘤相关的体细胞突变
- 作者：Diego F. Coutinho;Ilana R. Zalcberg;Bárbara C. R. Monte‐Mór
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
55.The frequency of CNVs in a cohort population of consecutive fetuses with congenital anomalies after the termination of pregnancy

机译：终止妊娠后连续人群中先天性异常的CNV频率
- 作者：Gorazd Rudolf;Luca Lovrečić;Nataša Tul;Nataša Teran;Borut Peterlin
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- congenital anomalies copy number variations epidemiology molecular karyotyping termination of pregnancy;
56.Noninvasive prenatal testing for fetal subchromosomal copy number variations and chromosomal aneuploidy by low‐pass whole‐genome sequencing

机译：通过低通全基因组测序对胎儿亚染色体拷贝数变异和染色体非整倍性进行无创产前检测
- 作者：Dongyi Yu;Kai Zhang;Meiyan Han;Wei Pan;Ying Chen;Yunfeng Wang;Hongyan Jiao;Ling Duan;Qiying Zhu;Xiaojie Song;Yan Hong;Chen Chen;Juan Wang;Feng Hui;Linzhou Huang;Chongjian Chen;Yang Du
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- cell‐free DNA chromosome aneuploidy NIPSCCD NIPT subchromosomal CNVs;
57.Associations of intercellular adhesion molecule‐1 rs5498 polymorphism with ischemic stroke: A meta‐analysis

机译：细胞间粘附分子-1 rs5498多态性与缺血性卒中的关联：荟萃分析
- 作者：Hua Gao;Xinhua Zhang
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- intercellular adhesion molecule‐1 (ICAM‐1) ischemic stroke (IS) meta‐analysis polymorphisms;
58.Identification of novel mutations in preaxial polydactyly patients through whole‐exome sequencing

机译：通过全外显子测序鉴定前轴多指症患者的新突变
- 作者：Tao Wang;Zhaopeng Xuan;Yichen Dou;Yang Liu;Yanyan Fu;Jingyan Ren;Laijin Lu
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- cilia ciliopathies limb malformation polydactyly sonic hedgehog signaling pathway;
59.IgG4‐related disease: Association with a rare gene variant expressed in cytotoxic T cells

机译：IgG4相关疾病：与细胞毒性T细胞中表达的罕见基因变异相关
- 作者：John H. Newman;Aaron Shaver;Jonathan H. Sheehan;Simon Mallal;John H. Stone;Shiv Pillai;Lisa Bastarache;Derek Riebau;Hugues Allard‐Chamard;William M. Stone;Cory Perugino;Mark Pilkinton;Scott A. Smith;Wyatt J. McDonnell;John A. Capra;Jens Meiler;Joy Cogan;Kelly Xing;Vinay S. Mahajan;Hamid Mattoo;Rizwan Hamid;John A. Phillips III;David R. Adams;Aaron Aday;Mercedes E. Alejandro;Patrick Allard;Euan A. Ashley;Mahshid S. Azamian;Carlos A. Bacino;Ashok Balasubramanyam;Hayk Barseghyan;Gabriel F. Batzli;Alan H. Beggs;Babak Behnam;Hugo J. Bellen;Jonathan A. Bernstein;Anna Bican;David P. Bick;Camille L. Birch;Devon Bonner;Braden E. Boone;Bret L. Bostwick;Lauren C. Briere;Donna M. Brown;Matthew Brush;Elizabeth A. Burke;Lindsay C. Burrage;Manish J. Butte;Shan Chen;Gary D. Clark;Terra R. Coakley;Cynthia M. Cooper;Heidi Cope;William J. Craigen;Precilla DSouza;Mariska Davids;Jean M. Davidson;Jyoti G. Dayal;Esteban C. DellAngelica;Shweta U. Dhar;Katrina M. Dipple;Laurel A. Donnell‐Fink;Naghmeh Dorrani;Daniel C. Dorset;Emilie D. Douine;David D. Draper;Annika M. Dries;David J. Eckstein;Lisa T. Emrick;Christine M. Eng;Gregory M. Enns;Ascia Eskin;Cecilia Esteves;Tyra Estwick;Liliana Fernandez;Carlos Ferreira;Paul G. Fisher;Brent L. Fogel;Noah D. Friedman;William A. Gahl;Emily Glanton;Rena A. Godfrey;Alica M. Goldman;David B. Goldstein;Sarah E. Gould;Jean‐Philippe F. Gourdine;Catherine A. Groden;Andrea L. Gropman;Melissa Haendel;Neil A. Hanchard;Lori H. Handley;Matthew R. Herzog;Francis High;Ingrid A. Holm;Jason Hom;Ellen M. Howerton;Yong Huang;Fariha Jamal;Yong‐hui Jiang;Jean M. Johnston;Angela L. Jones;Lefkothea Karaviti;David M. Koeller;Isaac S. Kohane;Jennefer N. Kohler;Donna M. Krasnewich;Susan Korrick;Elizabeth L. Krieg;Joel B. Krier;Jennifer E. Kyle;Seema R. Lalani;C. Christopher Lau;Jozef Lazar;Kimberly LeBlanc;Brendan H. Lee;Hane Lee;Shawn E. Levy;Richard A. Lewis;Sharyn A. Lincoln;Sandra K. Loo;Joseph Loscalzo;Richard L. Maas;Ellen F. Macnamara;Calum A. MacRae;Valerie V. Maduro;Marta M. Majcherska;May Christine V. Malicdan;Laura A. Mamounas;Teri A. Manolio;Thomas C. Markello;Ronit Marom;Martin G. Martin;Julian A. Martínez‐Agosto;Shruti Marwaha;Thomas May;Allyn McConkie‐Rosell;Colleen E. McCormack;Alexa T. McCray;Jason D. Merker;Thomas O. Metz;Matthew Might;Paolo M. Moretti;Marie Morimoto;John J. Mulvihill;David R. Murdock;Jennifer L. Murphy;Donna M. Muzny;Michele E. Nehrebecky;Stan F. Nelson;J. Scott Newberry;Sarah K. Nicholas;Donna Novacic;Jordan S. Orange;James P. Orengo;J. Carl Pallais;Christina G. S. Palme;Jeanette C. Papp;Neil H. Parker;Loren D. M. Pena;Jennifer E. Posey;John H. Postlethwait;Lorraine Potocki;Barbara N. Pusey;Chloe M. Reuter;Amy K. Robertson;Lance H. Rodan;Jill A. Rosenfeld;Jacinda B. Sampson;Susan L. Samson;Kelly Schoch;Molly C. Schroeder;Daryl A. Scott;Prashant Sharma;Vandana Shashi;Edwin K. Silverman;Janet S. Sinsheimer;Kevin S. Smith;Rebecca C. Spillmann;Joan M. Stoler;Nicholas Stong;Jennifer A. Sullivan;David A. Sweetser;Queenie K.‐G. Tan;Cynthia J. Tifft;Camilo Toro;Alyssa A. Tran;Tiina K. Urv;Zaheer M. Valivullah;Eric Vilain;Tiphanie P. Vogel;Daryl M. Waggott;Colleen E. Wahl;Nicole M. Walley;Chris A. Walsh;Melissa Walker;Jijun Wan;Michael F. Wangler;Patricia A. Ward;Katrina M. Waters;Bobbie‐Jo M. Webb‐Robertson;Monte Westerfield;Matthew T. Wheeler;Anastasia L. Wise;Lynne A. Wolfe;Elizabeth A. Worthey;Shinya Yamamoto;Yaping Yang;Amanda J. Yoon;Guoyun Yu;Diane B. Zastrow;Chunli Zhao;Allison Zheng
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- cytotoxic lymphocytes heritable IgG4‐RD;
60.Incidentally identified genetic variants in arrhythmogenic right ventricular cardiomyopathy‐associated genes among children undergoing exome sequencing reflect healthy population variation

机译：在通过外显子组测序的儿童中偶然发现的与心律失常相关的右心室心肌病相关基因的遗传变异反映了健康的群体变异
- 作者：Andrew T. Headrick;Jill A. Rosenfeld;Yaping Yang;Hari Tunuguntla;Hugh D. Allen;Daniel J. Penny;Jeffrey J. Kim;Andrew P. Landstrom
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- arrhythmogenic right ventricular cardiomyopathy genetic testing genetics incidental finding secondary finding variant of undetermined significance whole exome sequencing;
61.Association of OPG gene polymorphisms with the risk of knee osteoarthritis among Chinese people

机译：OPG基因多态性与中国人膝骨关节炎风险的关系
- 作者：Yuxin Qi;Feimeng An;Jiaqi Wang;Yuan Liu;Hongyan Gao;Zhe Ge;Enze Jiang;Donggao Cai;Jianping Shi;Jianzhong Wang
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- Chinese people gene polymorphisms knee osteoarthritis OPG;
62.Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4

机译：携带SMARCA4从头错义变异体的个体的视网膜营养不良
- 作者：Gerarda Cappuccio;Raffaella Brunetti‐Pierri;Annalaura Torella;Michele Pinelli;Raffaele Castello;Giorgio Casari;Vincenzo Nigro;Sandro Banfi;Francesca Simonelli;Nicola Brunetti‐Pierri
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- Coffin–Siris syndrome retinitis pigmentosa SMARCA4;
63.Comprehensive analysis of serum tumor markers and BRCA1/2 germline mutations in Chinese ovarian cancer patients

机译：中国卵巢癌患者血清肿瘤标志物和BRCA1 / 2种系突变的综合分析
- 作者：Hongyu Deng;Ming Chen;Xinwu Guo;Jianfu Heng;Xunxun Xu;Limin Peng;Hui Jiang;Guoli Li;Julia X. Day;Jinliang Li;Dongyong Shan;Yinghua Li;Yanjie Zhou;Bin Liu;Lizhong Dai;Xiaochun Wang;Jun Wang
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- BRCA1/2 mutation next‐generation sequencing ovarian cancer serum tumor markers;
64.CCDN1 rs603965 polymorphism may serve as a genetic biomarker of brain tumor: A meta‐analysis of 5769 subjects

机译：CCDN1 rs603965基因多态性可能作为脑肿瘤的遗传标志物：对5769名受试者的荟萃分析
- 作者：Jiarong Lan;Min Li;Haifeng Wang
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- brain tumor cyclin D1 (CCND1) glioma meta‐analysis rs603965 polymorphism;
65.Genotype–phenotype correlation study and mutational and hormonal analysis in a Chinese cohort with 21‐hydroxylase deficiency

机译：中国21-羟化酶缺乏人群的基因型与表型相关性研究以及突变和激素分析
- 作者：Chao Xu;Wenyu Jia;Xiangdeng Cheng;Hui Ying;Jing Chen;Jin Xu;Qingbo Guan;Xinli Zhou;Dongmei Zheng;Guimei Li;Jiajun Zhao
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- congenital adrenal hyperplasia (CAH) CYP21A2 genotype–phenotype associations mutation steroid 21‐hydroxylase deficiency (21OHD);
66.Novel mutations of COL4A3 COL4A4 and COL4A5 genes in Chinese patients with Alport Syndrome using next generation sequence technique

机译：利用下一代测序技术对中国阿尔波特综合征患者COL4A3COL4A4和COL4A5基因的新突变
- 作者：Xuechao Zhao;Chen Chen;Yanfu Wei;Ganye Zhao;Lina Liu;Conghui Wang;Junjun Zhang;Xiangdong Kong
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- Alport syndrome digenic inheritance next‐generation sequencing novel mutations;
67.Prioritization and comprehensive analysis of genes related to major depressive disorder

机译：重度抑郁症相关基因的优先排序和综合分析
- 作者：Yi Liu;Pengfei Fan;Shiyuan Zhang;Yidan Wang;Dan Liu
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- gene ontology KEGG pathway major depressive disorder multi‐data‐source based prioritization;
68.Comparison of gene mutation spectrum of thalassemia in different regions of China and Southeast Asia

机译：中国与东南亚地区地中海贫血基因突变谱比较
- 作者：Zhuo Yang;Quexuan Cui;Wenzhe Zhou;Ling Qiu;Bing Han
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- China comparison gene mutation Southeast Asia thalassemia;
69.Maternal genetic markers for risk of celiac disease and their potential association with neural tube defects in offspring

机译：孕妇乳糜泻的遗传标记及其与后代神经管缺陷的潜在关联
- 作者：Thanh T. Hoang;Yunping Lei;Laura E. Mitchell;Shreela V. Sharma;Michael D. Swartz;D. Kim Waller;Richard H. Finnell;Renata H. Benjamin;Marilyn L. Browne;Mark A. Canfield;Philip J. Lupo;Paige McKenzie;Gary M. Shaw;A. J. Agopian
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- candidate genes celiac disease human leukocyte antigen neural tube defects pregnancy;
70.Prevalence of BRCA1 and BRCA2 gene mutations in Chinese patients with high‐risk breast cancer

机译：中国高危乳腺癌患者BRCA1和BRCA2基因突变的患病率
- 作者：Xiaozhen Wang;Haimeng Liu;Amina Maimaitiaili;Gang Zhao;Sijie Li;Zheng Lv;Di Wu;Aiping Shi;Xin Guan;Hongyao Jia;Menghan Li;Dong Song;Lihua Kang;Bing Han;Tong Fu;Ming Yang;Zhu Zhu;Ye Du;Yanqiu Song;Jinghui Hong;Zhimin Fan
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- BRCA1;
- BRCA2;
- mutation;
- breast cancer;
71.Clinical utility in infants with suspected monogenic conditions through next‐generation sequencing

机译：通过下一代测序可疑单基因疾病婴儿的临床应用
- 作者：Sha Hong;Li Wang;Dongying Zhao;Yonghong Zhang;Yan Chen;Jintong Tan;Lili Liang;Tianwen Zhu
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- clinical utility next‐generation sequencing TRS WES;
72.Achillea biebersteinni Afan may inhibit scar formation: In vitro study

机译：Achillea biebersteinni Afan可能抑制疤痕形成：体外研究
- 作者：Maryam Hormozi;Parastoo Baharvand
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第5期
- Achillea biebersteinni Afan bFGF fibroblast scar formation TGFβ1;
73.HDAC4 mutations cause diabetes and induce β‐cell FoxO1 nuclear exclusion

机译：HDAC4突变导致糖尿病并诱发β细胞FoxO1核排斥
- 作者：Maolian Gong;Yong Yu;Lei Liang;Dogus Vuralli;Sebastian Froehler;Peter Kuehnen;Philipp Du Bois;Jingjing Zhang;Aidi Cao;Yuantao Liu;Khalid Hussain;Jens Fielitz;Shiqi Jia;Wei Chen;Klemens Raile
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第5期
- diabetes FoxO1 HDAC4 mutations pancreatic β‐cells;
74.Detailed methylation map of LINE‐1 5′‐promoter region reveals hypomethylated CpG hotspots associated with tumor tissue specificity

机译：LINE-1 5-启动子区域的详细甲基化图谱揭示了与肿瘤组织特异性相关的甲基化不足的CpG热点
- 作者：Amit Sharma;Muhammad A. Jamil;Nicole Nuesgen;Albertas Dauksa;Antanas Gulbinas;Wolfgang A. Schulz;Johannes Oldenburg;Osman El‐Maarri
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第5期
- biomarker bisulfite modification cancer DNA methylation epigenetics LINE‐1 methylation patterns SIRPH tumor marker;
75.Effects of RHD gene polymorphisms on distinguishing weak D or DEL from RhD− in blood donation in a Chinese population

机译：RHD基因多态性对中国人群献血中弱D或DEL与RhD−的区分的影响
- 作者：Jie Shi;Ying Luo
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- polymorphism RHD RhD−;
76.Genetic analysis of pharmacogenomic VIP variants in the Blang population from Yunnan Province of China

机译：中国云南省布朗族人群药物基因组学VIP变异的遗传分析
- 作者：Chan Zhang;Weiwei Guo;Yujing Cheng;Qi Li;Xin Yang;Run Dai;Linhao Zhu;Wanlu Chen
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第5期
- Blang genetic polymorphism pharmacogenomics VIP variants;
77.The association of nucleotide‐binding oligomerization domain 2 gene polymorphisms with the risk of asthma in the Chinese Han population

机译：核苷酸结合寡聚化域2基因多态性与中国汉族人群哮喘风险的关系
- 作者：Xulong Cai;Qiaolan Xu;Chenrong Zhou;Li Zhou;Weihua Dai;Guanchi Ji
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- asthma gene polymorphisms IFN‐β NOD2;
78.The identification of a RNA splice variant in TULP1 in two siblings with early‐onset photoreceptor dystrophy

机译：在两个患有早发性感光障碍的兄弟姐妹中鉴定了TULP1中的RNA剪接变体
- 作者：Sanne K. Verbakel;Zeinab Fadaie;B. Jeroen Klevering;Maria M. van Genderen;Ilse Feenstra;Frans P. M. Cremers;Carel B. Hoyng;Susanne Roosing
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- early‐onset retinal dystrophy intronic variant TULP1 whole exome sequencing;
79.Concurrent manifestation of oligodontia and thrombocytopenia caused by a contiguous gene deletion in 12p13.2: A three‐generation clinical report

机译：由12p13.2中的连续基因缺失引起的少牙症和血小板减少症的同时表现：三代临床报告
- 作者：Jamila Ross;Willem Fennis;Nicole de Leeuw;Marco Cune;Annemieke Willemze;Antoine Rosenberg;Hans‐Kristian Ploos van Amstel;Marijn Créton;Marie‐José van den Boogaard
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- contiguous gene deletion ETV6 LRP6 oligodontia thrombocytopenia;
80.Association between polymorphisms of MIR17HG and risk of colorectal cancer in the Chinese Han population

机译：中国汉族人群MIR17HG基因多态性与结直肠癌风险的关系
- 作者：Peng Chen;Yuwei Bai;Yaru Li;Yuemin Yuan;Yimin Cheng;Jianjian Pang;Hongli Zhu;Chao Chen
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- case–control study colorectal cancer MIR17HG single nucleotide polymorphisms susceptibility;
81.Reduction of expression of IL‐18 IL‐1β genes in the articular joint by sumac fruit extract (Rhus coriaria L.)

机译：漆树果实提取物（Rhus coriaria L.）减少关节中IL-18IL-1β基因的表达
- 作者：Amin Momeni;Hossein Maghsoodi;Sadegh Rezapour;Mostafa Shiravand;Mahnaz Mardani
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- cytokines osteoarthritis sumac alcoholic extract (E.E.R.C.L) synoviocytes;
82.Association of PTPN22 polymorphism and its correlation with Graves disease susceptibility in Polish adult population—A preliminary study

机译：波兰成年人口中PTPN22基因多态性的关联及其与Graves疾病易感性的关系
- 作者：Natalia Wawrusiewicz‐Kurylonek;Olga Martyna Koper‐Lenkiewicz;Joanna Gościk;Janusz Myśliwiec;Przemysław Pawłowski;Adam Jacek Krętowski
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- gene polymorphism Graves disease PTPN22 gene;
83.Application whole exome sequencing for the clinical molecular diagnosis of patients with Duchenne muscular dystrophy; identification of four novel nonsense mutations in four unrelated Chinese DMD patients

机译：全外显子组测序在杜兴氏肌营养不良患者临床分子诊断中的应用；四个中国无关DMD患者中的四个新的无意义突变的鉴定
- 作者：Yan Zhang;Weikang Yang;Guoming Wen;Yanxia Wu;Zhiliang Jing;Dazhou Li;Minshan Tang;Guanglong Liu;Xuxuan Wei;Yan Zhong;Yanhua Li;Yongjian Deng
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第5期
- Duchenne muscular dystrophy molecular diagnosis nonsense mutations novel mutations whole exome sequencing;
84.A genetic counseling needs assessment of Mexico

机译：墨西哥的遗传咨询需求评估
- 作者：Daiana Bucio;Kelly E. Ormond;Daisy Hernandez;Carlos D. Bustamante;Arturo Lopez Pineda
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第5期
- genetic counseling Mexico needs assessment;
85.Prevalence and clinical characteristics of Danon disease among patients with left ventricular hypertrophy and concomitant electrocardiographic preexcitation

机译：左室肥厚并伴有心电图预激的患者中Danon病的患病率和临床特征
- 作者：Yang Liu;Xin Chen;Feng Wang;Yingcong Liang;Hai Deng;Hongtao Liao;Qianhuan Zhang;Bin Zhang;Xianzhang Zhan;Xianhong Fang;Michael Shehata;Xunzhang Wang;Yumei Xue;Shulin Wu
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第5期
- Danon disease LAMP2 left ventricular hypertrophy ventricular preexcitation;
86.Two de novo GJA1 mutation in two sporadic patients with erythrokeratodermia variabilis et progressiva

机译：两名散发性红斑角质形成和进展的患者中的两个从头GJA1突变
- 作者：Changxing Li;Jingyao Liang;Pingjiao Chen;Kang Zeng;Rujun Xue;Xin Tian;Liuping Liang;Qi Wang;Minglan Shi;Xibao Zhang
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- Connexins 43 Erythrokeratodermia variabilis et progressiva Gap junction alpha 1 gene;
87.Mutations in the mitochondrial tryptophanyl‐tRNA synthetase cause growth retardation and progressive leukoencephalopathy

机译：线粒体色氨酸tRNA合成酶的突变导致生长迟缓和进行性白质脑病
- 作者：Camilla Maffezzini;Isabelle Laine;Cristina Dallabona;Paula Clemente;Javier Calvo‐Garrido;Rolf Wibom;Karin Naess;Michela Barbaro;Anna Falk;Claudia Donnini;Christoph Freyer;Anna Wredenberg;Anna Wedell
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- aminoacylation mitochondria mitochondrial tryptophanyl‐tRNA synthetase WARS2;
88.Co‐occurrence of ATXN3 and ATXN2 repeat expansions in Chinese ataxia patients with slow saccades

机译：中国人共济失调伴缓慢扫视的ATXN3和ATXN2重复扩增同时发生
- 作者：Chao Wu;Qiong Cai;Huajing You;Xiangxue Zhou;Dingbang Chen;Guiling Mo;Xunhua Li
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- ATXN2 ATXN3 modifier oculomotor spinocerebellar ataxia;
89.Effect of a session of intensive exercise with ginseng supplementation on histone H3 protein methylation of skeletal muscle of nonathlete men

机译：一次大运动量人参补充剂对非运动员男性骨骼肌组蛋白H3蛋白甲基化的影响
- 作者：Ali akbar Naghavi moghadam;Mostafa Shiravand;Sadegh Rezapour;Alireza Khoshdel;Behzad Bazgir;Mahnaz Mardani
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第5期
- ginseng supplementation histone H3 protein (k‐36) methylation severe periodic exercises;
90.Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible?

机译：另外两名华沙断裂综合征患者。是否可能出现轻度表型？
- 作者：Roberta Bottega;Luisa M. R. Napolitano;Anna Carbone;Enrico Cappelli;Fabio Corsolini;Silvia Onesti;Anna Savoia;Paolo Gasparini;Flavio Faletra
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第5期
- DDX11 mutations Warsaw Breakage Syndrome;
91.Two novel genes TOX3 and COL21A1 in large extended Malay families with nonsyndromic cleft lip and/or palate

机译：马来人扩展大家族中的两个新基因TOX3和COL21A1具有非综合征性唇left裂
- 作者：Nurul Syazana Mohamad Shah;Sarina Sulong;Wan Azman Wan Sulaiman;Ahmad Sukari Halim
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第5期
- cleft lip and/or palate copy number genetic linkage microarray;
92.A case study of atypical Larsen syndrome with absent hallmark joint dislocations

机译：非典型性拉森综合征伴有标志性关节脱位的病例研究
- 作者：Neslida Kodra;Callie Diamonstein;Natalie S. Hauser
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第5期
- FLNB joint dislocations Larsen syndrome phenotypic variability skeletal dysplasia whole‐exome sequencing;
93.A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype‐phenotype correlations

机译：厄瓜多尔丑角鱼鳞病患者中发现的新型ABCA12病理变异：基因型与表型相关性的发展
- 作者：Martha Montalván‐Suárez;Uxia Saraiva Esperón‐Moldes;Laura Rodríguez‐Pazos;Andrés Ordóñez‐Ugalde;Fernanda Moscoso;Nora Ugalde‐Noritz;Luis Santomé;Laura Fachal;Daniel Tettamanti‐Miranda;Juan Carlos Ruiz;Manuel Ginarte;Ana Vega
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第5期
- ABCA12 gene Autosomal recessive congenital ichthyoses (ARCI) congenital ichthyosiform erythroderma (CIE) harlequin ichthyosis (HI) lamellar ichthyosis (LI) splice‐site pathogenic variant;
94.Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation

机译：1号染色体的单亲等位线切割导致糖原贮积病III型具有严重的生长迟缓
- 作者：Emanuela Ponzi;Viola Alesi;Francesca R. Lepri;Silvia Genovese;Sara Loddo;Mafalda Mucciolo;Antonio Novelli;Carlo Dionisi‐Vici;Arianna Maiorana
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第5期
- genomic imprinting glycogen storage disease type III severe growth retardation uniparental isodisomy;
95.Toward a better definition of EPCAM deletions in Lynch Syndrome: Report of new variants in Italy and the associated molecular phenotype

机译：为了更好地定义林奇综合症中的EPCAM缺失：意大利新变体及其相关分子表型的报道
- 作者：Giulia Cini;Michele Quaia;Vincenzo Canzonieri;Mara Fornasarig;Roberta Maestro;Alberto Morabito;Angela Valentina DElia;Emanuele Damiano Urso;Isabella Mammi;Alessandra Viel
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第5期
- deletion EPCAM epigenetics Lynch Syndrome methylation MSH2;
96.Functional analysis of haplotypes and promoter activity at the 5′ region of the human GABRB3 gene and associations with schizophrenia

机译：人GABRB3基因5区域单倍型和启动子活性的功能分析以及与精神分裂症的关联
- 作者：Yi Liu;Mei Ding;Yong‐ping Liu;Xi‐cen Zhang;Jia‐xin Xing;Jin‐feng Xuan;Xi Xia;Jun Yao;Bao‐jie Wang
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第5期
- GABRB3 haplotype promoter schizophrenia transcriptional regulation;
97.Polymorphism of MTHFR 1298AC in relation to adverse pregnancy outcomes in Chinese populations

机译：MTHFR 1298A C多态性与中国人群不良妊娠结局的关系
- 作者：Hui Mo;Meng Rao;Gang Wang;Yan‐Xi Long;Hua‐Wei Wang;Li Tang
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第5期
- folic acid MTHFR polymorphism pregnancy outcome;
98.Mild phenotype in Molybdenum cofactor deficiency: A new patient and review of the literature

机译：钼辅助因子缺乏症的轻度表型：一名新患者及文献复习
- 作者：Barbara Scelsa;Serena Gasperini;Andrea Righini;Maria Iascone;Valeria G. Brazzoduro;Pierangelo Veggiotti
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第6期
- MOCS2 molybdenum cofactor Molybdenum cofactor deficiency neurodevelopmental outcome sulfite oxidase;
99.Clinical validity assessment of genes for inclusion in multi‐gene panel testing: A systematic approach

机译：纳入多基因面板测试的基因的临床有效性评估：系统方法
- 作者：Tricia N. Zion;Bess Wayburn;Sourat Darabi;Devon Lamb Thrush;Erica D. Smith;Tami Johnston;Brissa Martin;Kelly D. F. Hagman;Melissa Parra;Christian Antolik
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第5期
- cardiology clinical validity detection rate gene characterization gene vetting gene–disease relationship multi‐gene panel genetic testing;
100.Association between IL‐1R2 polymorphisms and lung cancer risk in the Chinese Han population: A case–control study

机译：IL-1R2基因多态性与中国汉族人群肺癌风险的关系：病例对照研究
- 作者：Chaoying Wang;Chengsheng Zhang;Junnv Xu;Yongfu Li;Jie Wang;Hui Liu;Yueli Liu;Zhong Chen;Haifeng Lin
- 期刊名称：《Molecular Genetics Genomic Medicine》 | 2019年第5期
- Case–control study IL‐1R2 gene Lung cancer Single‐nucleotide polymorphism;