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European Journal of Human Genetics

【机译】：欧洲人类遗传学杂志

ISSN：-
出版周期：12 no. a year, 2000-
语言：English

起始发布年份：1992
出版者：Basel ; New York : Karger, [1992-
出版地：England

NLM刊名缩写：Eur J Hum Genet

数据库引入：PMC

MeSH词表主题词：Genetics, Medical*

备注：Quarterly. 1, 1- released Oct. 1992- . Also numbered as v. 1, no. 1- on spine.展开▼

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1.Evidence for anticipation in Beckwith–Wiedemann syndrome

机译：Beckwith-Wiedemann综合征的预期证据
- 作者：Siren Berland;Mia Appelbäck;Ove Bruland;Jasmin Beygo;Karin Buiting;Deborah J G Mackay;I Karen Temple;Gunnar Houge
- 期刊名称：《European Journal of Human Genetics》 | 2013年第12期
- Beckwith–Wiedemann syndrome anticipation imprinting H19 IGF2;
2.Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12

机译：由于14q12的位置效应具有FOXG1突变或表达降低的Rett综合征先天性变异患者的血小板缺陷
- 作者：Christophe Goubau;Koen Devriendt;Nathalie Van der Aa;An Crepel;Dagmar Wieczorek;Tjitske Kleefstra;Marjolein H Willemsen;Anita Rauch;Andreas Tzschach;Thomy de Ravel;Peter Leemans;Chris Van Geet;Gunnar Buyse;Kathleen Freson
- 期刊名称：《European Journal of Human Genetics》 | 2013年第12期
- 14q12 deletion translocation cis-regulation FOXG1 platelet;
3.Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans

机译：Wolfram基因（WFS1）突变导致人类常染色体显性先天性白内障
- 作者：Vanita Berry;Cheryl Gregory-Evans;Warren Emmett;Naushin Waseem;Jacob Raby;DeQuincy Prescott;Anthony T Moore;Shomi S Bhattacharya
- 期刊名称：《European Journal of Human Genetics》 | 2013年第12期
- nuclear cataract linkage WFS1 gene heterogeneity;
4.PGD for hereditary breast and ovarian cancer: the route to universal tests for BRCA1 and BRCA2 mutation carriers

机译：遗传性乳腺癌和卵巢癌的PGD：BRCA1和BRCA2突变携带者通用检测的途径
- 作者：Marion Drüsedau;Jos C Dreesen;Inge Derks-Smeets;Edith Coonen;Ron van Golde;Jannie van Echten-Arends;Peter M M Kastrop;Marinus J Blok;Encarna Gómez-García;Joep P Geraedts;Hubert J Smeets;Christine E de Die-Smulders;Aimée D Paulussen
- 期刊名称：《European Journal of Human Genetics》 | 2013年第12期
- PGD HBOC BRCA1 BRCA2 microsatellites mutation;
5.Germline copy number variation of genes involved in chromatin remodelling in families suggestive of Li-Fraumeni syndrome with brain tumours

机译：提示Li-Fraumeni综合征伴脑肿瘤的家族中染色质重塑相关基因的生殖系拷贝数变异
- 作者：Juliette Aury-Landas;Gaëlle Bougeard;Hélène Castel;Hector Hernandez-Vargas;Aurélie Drouet;Jean-Baptiste Latouche;Marie-Thérèse Schouft;Claude Férec;Dominique Leroux;Christine Lasset;Isabelle Coupier;Olivier Caron;Zdenko Herceg;Thierry Frebourg;Jean-Michel Flaman
- 期刊名称：《European Journal of Human Genetics》 | 2013年第12期
- Li-Fraumeni syndrome TP53 copy number variation SIRT3 chromatin remodelling;
6.De novo microduplications at 1q41 2q37.3 and 8q24.3 in patients with VATER/VACTERL association

机译：VATER / VACTERL关联患者在1q41、2q37.3和8q24.3进行从头微复制
- 作者：Alina Hilger;Charlotte Schramm;Tracie Pennimpede;Lars Wittler;Gabriel C Dworschak;Enrika Bartels;Hartmut Engels;Alexander M Zink;Franziska Degenhardt;Annette M Müller;Eberhard Schmiedeke;Sabine Grasshoff-Derr;Stefanie Märzheuser;Stuart Hosie;Stefan Holland-Cunz;Charlotte HW Wijers;Carlo LM Marcelis;Iris ALM van Rooij;Friedhelm Hildebrandt;Bernhard G Herrmann;Markus M Nöthen;Michael Ludwig;Heiko Reutter;Markus Draaken
- 期刊名称：《European Journal of Human Genetics》 | 2013年第12期
- VATER/VACTERL association CNV analysis microaberrations candidate genes SNP array GPR35;
7.Oncogenic mutations and microsatellite instability phenotype predict specific anatomical subsite in colorectal cancer patients

机译：致癌突变和微卫星不稳定性表型可预测结直肠癌患者的特定解剖亚部位
- 作者：Giovanni Corso;Valeria Pascale;Giuseppe Flauti;Francesco Ferrara;Daniele Marrelli;Franco Roviello
- 期刊名称：《European Journal of Human Genetics》 | 2013年第12期
- oncogenic mutation microsatellite instability colorectal cancer;
8.An association between the PTGS2 rs5275 polymorphism and colorectal cancer risk in families with inherited non-syndromic predisposition

机译：遗传性非综合征易感基因家族中PTGS2 rs5275基因多态性与大肠癌风险的相关性
- 作者：Jason Ross;Linda Lockett;Diana Brookes;Bruce Tabor;Konsta Duesing;Michael Buckley;Trevor Lockett;Peter Molloy;Finlay Macrae;Graeme Young;Ignacio Blanco;Gabriel Capella;Garry N Hannan
- 期刊名称：《European Journal of Human Genetics》 | 2013年第12期
- PTGS2 COX-2 rs5275 colorectal cancer hereditary;
9.Human X-chromosome inactivation pattern distributions fit a model of genetically influenced choice better than models of completely random choice

机译：人类X染色体失活模式分布比完全随机选择模型更适合遗传影响的选择模型
- 作者：Nisa K E Renault;Sonja M Pritchett;Robin E Howell;Wenda L Greer;Carmen Sapienza;Karen Helene Ørstavik;David C Hamilton
- 期刊名称：《European Journal of Human Genetics》 | 2013年第12期
- X chromosome inactivation genetic models population genetics statistical genetics;
10.Next generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia

机译：用于无创产前诊断的SNP下一代测序：挑战和可行性如对β地中海贫血的应用所说明
- 作者：Thessalia Papasavva;Wilfred F J van IJcken;Christel E M Kockx;Mirjam C G N van den Hout;Petros Kountouris;Loukas Kythreotis;Eleni Kalogirou;Frank G Grosveld;Marina Kleanthous
- 期刊名称：《European Journal of Human Genetics》 | 2013年第12期
- NIPD β-thalassaemia SNPs next generation sequencing targeted sequencing maternal plasma;
11.The genome-wide landscape of copy number variations in the MUSGEN study provides evidence for a founder effect in the isolated Finnish population

机译：MUSGEN研究中拷贝数变异的全基因组格局为孤立的芬兰人群提供了创始效应的证据
- 作者：Chakravarthi Kanduri;Liisa Ukkola-Vuoti;Jaana Oikkonen;Gemma Buck;Christine Blancher;Pirre Raijas;Kai Karma;Harri Lähdesmäki;Irma Järvelä
- 期刊名称：《European Journal of Human Genetics》 | 2013年第12期
- copy number variation isolated Finnish population founder effect MUSGEN Illumina HumanOmniExpress-12v.1.0 beadchip PennCNV QuantiSNP;
12.A 680 kb duplication at the FTO locus in a kindred with obesity and a distinct body fat distribution

机译：在FTO位点重复680 kb具有肥胖和明显的体内脂肪分布
- 作者：Robert W Davies;Paulina Lau;Thet Naing;Majid Nikpay;Heather Doelle;Mary Ellen Harper;Robert Dent;Ruth McPherson
- 期刊名称：《European Journal of Human Genetics》 | 2013年第12期
- FTO RBL2 CNV obesity;
13.Determination of population origin: a comparison of autosomal SNPs Y-chromosomal and mtDNA haplogroups using a Malagasy population as example

机译：种群起源的确定：以马达加斯加人为例比较常染色体SNPY染色体和mtDNA单倍型
- 作者：Micaela Poetsch;Aline Wiegand;Melanie Harder;Rowena Blöhm;Noel Rakotomavo;Sandra Freitag-Wolf;Nicole von Wurmb-Schwark
- 期刊名称：《European Journal of Human Genetics》 | 2013年第12期
- population origin Madagascar Y chromosome mtDNA SNP;
14.Homozygosity analysis in amyotrophic lateral sclerosis

机译：肌萎缩性侧索硬化的纯合性分析
- 作者：Kin Mok;Hannu Laaksovirta;Pentti J Tienari;Terhi Peuralinna;Liisa Myllykangas;Adriano Chiò;Bryan J Traynor;Michael A Nalls;Nicole Gurunlian;Aleksey Shatunov;Gabriella Restagno;Gabriele Mora;P Nigel Leigh;Chris E Shaw;Karen E Morrison;Pamela J Shaw;Ammar Al-Chalabi;John Hardy;Richard W Orrell
- 期刊名称：《European Journal of Human Genetics》 | 2013年第12期
- amyotrophic lateral sclerosis homozygosity recessive;
15.A unifying framework for robust association testing estimation and genetic model selection using the generalized linear model

机译：使用广义线性模型进行鲁棒关联测试估计和遗传模型选择的统一框架
- 作者：Christina Loley;Inke R König;Ludwig Hothorn;Andreas Ziegler
- 期刊名称：《European Journal of Human Genetics》 | 2013年第12期
- family-based association genetic association genome-wide association indirect mapping MAX test;
16.Joint detection of association imprinting and maternal effects using all children and their parents

机译：使用所有儿童及其父母共同检测联想烙印和母性影响
- 作者：Miao Han;Yue-Qing Hu;Shili Lin
- 期刊名称：《European Journal of Human Genetics》 | 2013年第12期
- association study imprinting effect maternal effect nuclear families with all children partial likelihood;
17.Extended spectrum of MBD5 mutations in neurodevelopmental disorders

机译：神经发育障碍中MBD5突变的广泛范围
- 作者：Céline Bonnet;Asma Ali Khan;Emmanuel Bresso;Charlène Vigouroux;Mylène Béri;Sarah Lejczak;Bénédicte Deemer;Joris Andrieux;Christophe Philippe;Anne Moncla;Irina Giurgea;Marie-Dominique Devignes;Bruno Leheup;Philippe Jonveaux
- 期刊名称：《European Journal of Human Genetics》 | 2013年第12期
- MBD5 nonsense mutation intragenic duplication intellectual disability;
18.Clinical and molecular characterization of the potential CF disease modifier syntaxin 1A

机译：潜在CF疾病修饰语1A的临床和分子表征
- 作者：Thomas von Kanel;Frauke Stanke;Melanie Weber;Andre Schaller;Julien Racine;Richard Kraemer;Marc Chanson;Burkhard Tümmler;Sabina Gallati
- 期刊名称：《European Journal of Human Genetics》 | 2013年第12期
- cystic fibrosis CF modifier CFTR interactor syntaxin 1A (STX1A) variant splicing;
19.No evidence of association between complement factor I genetic variant rs10033900 and age-related macular degeneration

机译：补体因子I基因变异rs10033900与年龄相关性黄斑变性之间没有关联的证据
- 作者：Valentina Cipriani;Baljinder K Matharu;Jane C Khan;Humma Shahid;Caroline Hayward;Alan F Wright;Ana Maria Armbrecht;Baljean Dhillon;Simon P Harding;Paul N Bishop;Catey Bunce;David G Clayton;Anthony T Moore;John RW Yates
- 期刊名称：《European Journal of Human Genetics》 | 2012年第1期
20.Reply to Cipriani et al

机译：回复Cipriani等人
- 作者：Jesen A Fagerness;Yi Yu;Julian B Maller;Benjamin M Neale;Robyn C Reynolds;Mark J Daly;Johanna M Seddon
- 期刊名称：《European Journal of Human Genetics》 | 2012年第1期
21.Attitudes to reproductive genetic testing in women who had a positive BRCA test before having children: a qualitative analysis

机译：生育前BRCA检测阳性的女性对生殖基因检测的态度：定性分析
- 作者：Elizabeth Ormondroyd;Louise Donnelly;Clare Moynihan;Cornelie Savona;Elizabeth Bancroft;D Gareth Evans;Rosalind Eeles;Stuart Lavery;Maggie Watson
- 期刊名称：《European Journal of Human Genetics》 | 2012年第1期
- BRCA reproductive attitudes cancer psychosocial qualitative;
22.EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta

机译：EMQN实验室诊断成骨不全症的最佳实践指南
- 作者：Fleur S van Dijk;Peter H Byers;Raymond Dalgleish;Fransiska Malfait;Alessandra Maugeri;Marianne Rohrbach;Sofie Symoens;Erik A Sistermans;Gerard Pals
- 期刊名称：《European Journal of Human Genetics》 | 2012年第1期
- EMQN best practice osteogenesis imperfecta type I (pro)collagen diagnosis reporting;
23.Discrepancies in reporting the CAG repeat lengths for Huntingtons disease

机译：报告亨廷顿氏病的CAG重复长度的差异
- 作者：Oliver W Quarrell;Olivia Handley;Kirsty ODonovan;Christine Dumoulin;Maria Ramos-Arroyo;Ida Biunno;Peter Bauer;Margaret Kline;G Bernhard Landwehrmeyer
- 期刊名称：《European Journal of Human Genetics》 | 2012年第1期
- Huntingtons disease CAG repeat length standard reference materials;
24.Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of 72 400 specimens

机译：脊柱肌萎缩症的全民族携带者筛查和产前诊断： 72 400个标本的临床实验室分析
- 作者：Elaine A Sugarman;Narasimhan Nagan;Hui Zhu;Viatcheslav R Akmaev;Zhaoqing Zhou;Elizabeth M Rohlfs;Kerry Flynn;Brant C Hendrickson;Thomas Scholl;Deborah Alexa Sirko-Osadsa;Bernice A Allitto
- 期刊名称：《European Journal of Human Genetics》 | 2012年第1期
- spinal muscular atrophy (SMA) pan-ethnic carrier screening SMN1;
25.Fine-grained facial phenotype–genotype analysis in Wolf–Hirschhorn syndrome

机译：Wolf-Hirschhorn综合征的细粒度面部表型-基因型分析
- 作者：Peter Hammond;Femke Hannes;Michael Suttie;Koen Devriendt;Joris Robert Vermeesch;Francesca Faravelli;Francesca Forzano;Susan Parekh;Steve Williams;Dominic McMullan;Sarah T South;John C Carey;Oliver Quarrell
- 期刊名称：《European Journal of Human Genetics》 | 2012年第1期
- Wolf–Hirschhorn syndrome facial dysmorphism 3D shape analysis;
26.Unexpanded and intermediate CAG polymorphisms at the SCA2 locus (ATXN2) in the Cuban population: evidence about the origin of expanded SCA2 alleles

机译：古巴人群SCA2基因座（ATXN2）的未扩增和中间CAG多态性：有关扩增的SCA2等位基因起源的证据
- 作者：José Miguel Laffita-Mesa;Luis C Velázquez-Pérez;Nieves Santos Falcón;Tania Cruz-Mariño;Yanetza González Zaldívar;Yaimee Vázquez Mojena;Dennis Almaguer-Gotay;Luis Enrique Almaguer Mederos;Roberto Rodríguez Labrada
- 期刊名称：《European Journal of Human Genetics》 | 2012年第1期
- SCA2 genetic polymorphisms ataxin-2 Cuba;
27.Advances in Alport syndrome diagnosis using next-generation sequencing

机译：下一代测序技术在Alport综合征诊断中的进展
- 作者：Rosangela Artuso;Chiara Fallerini;Laura Dosa;Francesca Scionti;Maurizio Clementi;Guido Garosi;Laura Massella;Maria Carmela Epistolato;Roberta Mancini;Francesca Mari;Ilaria Longo;Francesca Ariani;Alessandra Renieri;Mirella Bruttini
- 期刊名称：《European Journal of Human Genetics》 | 2012年第1期
- DNA sequencing next-generation sequencing Alport syndrome;
28.A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions

机译：轻度形式的粘多糖贮积症IIIB诊断为相关基因组区域的靶向下一代测序
- 作者：Kaja K Selmer;Gregor D Gilfillan;Petter Strømme;Robert Lyle;Timothy Hughes;Hanne S Hjorthaug;Kristin Brandal;Sigve Nakken;Doriana Misceo;Thore Egeland;Ludvig A Munthe;Sigrun K Braekken;Dag E Undlien
- 期刊名称：《European Journal of Human Genetics》 | 2012年第1期
- next-generation sequencing DNA target enrichment sequence capture Sanfilippo Syndrome type B mucopolysaccharidosis NAGLU;
29.C1q enhances cone photoreceptor survival in a mouse model of autosomal recessive retinitis pigmentosa

机译：C1q增强常染色体隐性遗传性视网膜色素变性的小鼠模型中锥体感光细胞的存活
- 作者：Marian M Humphries;Paul F Kenna;Matthew Campbell;Lawrence C S Tam;Anh T H Nguyen;G Jane Farrar;Marina Botto;Anna Sophia Kiang;Peter Humphries
- 期刊名称：《European Journal of Human Genetics》 | 2012年第1期
- C1qa C3 retinopathy retinitis pigmentosa complement cone photoreceptors;
30.Transgenic complementation of MeCP2 deficiency: phenotypic rescue of Mecp2-null mice by isoform-specific transgenes

机译：MeCP2缺乏症的转基因互补：通过亚型特异性转基因Mecp2-null小鼠的表型抢救。
- 作者：Bredford Kerr;Jessica Soto C;Mauricio Saez;Alexander Abrams;Katherina Walz;Juan I Young
- 期刊名称：《European Journal of Human Genetics》 | 2012年第1期
- Rett syndrome MeCP2 alternative splicing mouse model;
31.Sequencing of high-complexity DNA pools for identification of nucleotide and structural variants in regions associated with complex traits

机译：高复杂性DNA池测序用于鉴定与复杂性状相关的区域中的核苷酸和结构变异
- 作者：Ghazal Zaboli;Adam Ameur;Wilmar Igl;Åsa Johansson;Caroline Hayward;Veronique Vitart;Susan Campbell;Lina Zgaga;Ozren Polasek;Gerd Schmitz;Cornelia van Duijn;Ben Oostra;Peter Pramstaller;Andrew Hicks;Tomas Meitinger;Igor Rudan;Alan Wright;James F Wilson;Harry Campbell;Ulf Gyllensten
- 期刊名称：《European Journal of Human Genetics》 | 2012年第1期
- pooling next-generation DNA sequencing SOLiD SNP indels;
32.A genome-wide study of panic disorder suggests the amiloride-sensitive cation channel 1 as a candidate gene

机译：恐慌症的全基因组研究表明阿米洛利敏感阳离子通道1为候选基因
- 作者：Noomi Gregersen;Hans A Dahl;Henriette N Buttenschøn;Mette Nyegaard;Anne Hedemand;Thomas D Als;August G Wang;Sofus Joensen;David PD Woldbye;Pernille Koefoed;Ann S Kristensen;Torben A Kruse;Anders D Børglum;Ole Mors
- 期刊名称：《European Journal of Human Genetics》 | 2012年第1期
- panic disorder genome-wide scan isolated population association analysis ACCN1;
33.Evidence of linkage to chromosomes 10p15.3–p15.1 14q24.3–q31.1 and 9q33.3–q34.3 in non-syndromic colorectal cancer families

机译：非综合征性结直肠癌家庭与染色体10p15.3–p15.1、14q24.3–q31.1和9q33.3–q34.3连锁的证据
- 作者：Ian W Saunders;Jason Ross;Finlay Macrae;Graeme P Young;Ignacio Blanco;Jesper Brohede;Glenn Brown;Diana Brookes;Trevor Lockett;Peter L Molloy;Victor Moreno;Gabriel Capella;Garry N Hannan
- 期刊名称：《European Journal of Human Genetics》 | 2012年第1期
- colorectal cancer linkage 10p 14q 9q;
34.A systematic eQTL study of cis–trans epistasis in 210 HapMap individuals

机译：一项系统性的eQTL研究研究了210名HapMap个体的顺反转录
- 作者：Jessica Becker;Jens R Wendland;Britta Haenisch;Markus M Nöthen;Johannes Schumacher
- 期刊名称：《European Journal of Human Genetics》 | 2012年第1期
- eQTLs epistasis interaction cis-regulation trans-regulation;
35.Natural positive selection and north–south genetic diversity in East Asia

机译：东亚的自然阳性选择和南北遗传多样性
- 作者：Chen Suo;Haiyan Xu;Chiea-Chuen Khor;Rick TH Ong;Xueling Sim;Jieming Chen;Wan-Ting Tay;Kar-Seng Sim;Yi-Xin Zeng;Xuejun Zhang;Jianjun Liu;E-Shyong Tai;Tien-Yin Wong;Kee-Seng Chia;Yik-Ying Teo
- 期刊名称：《European Journal of Human Genetics》 | 2012年第1期
- positive selection population genetics clinal variation linkage disequilibrium variation;
36.Brazilian urban population genetic structure reveals a high degree of admixture

机译：巴西城市人口的遗传结构显示出高度融合
- 作者：Suely R Giolo;Júlia M P Soler;Steven C Greenway;Marcio A A Almeida;Mariza de Andrade;J G Seidman;Christine E Seidman;José E Krieger;Alexandre C Pereira
- 期刊名称：《European Journal of Human Genetics》 | 2012年第1期
- genetic structure Brazilian admixture mapping admixture;
37.Coronary artery disease in Alström syndrome

机译：Alström综合征的冠状动脉疾病
- 作者：Kumar Jatti;Richard Paisey;Ranjit More
- 期刊名称：《European Journal of Human Genetics》 | 2012年第1期
- Alström syndrome complications coronary artery disease;
38.No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith–Wiedemann Syndrome

机译：没有证据表明ZFP57是贝克威-韦德曼综合征的病原体或母体作用
- 作者：Susanne E Boonen;Johanne M D Hahnemann;Deborah Mackay;Niels Tommerup;Karen Brøndum-Nielsen;Zeynep Tümer;Karen Grønskov
- 期刊名称：《European Journal of Human Genetics》 | 2012年第1期
- Beckwith–Wiedemann syndrome imprinting hypomethylation ZFP57 maternal effect genes germline alterations;
39.Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu–Cheney syndrome

机译：蛇行腓骨多囊肾综合征是Hajdu–Cheney综合征表型的一部分
- 作者：Mary J Gray;Chong Ae Kim;Debora Romeo Bertola;Paula Ricci Arantes;Helen Stewart;Michael A Simpson;Melita D Irving;Stephen P Robertson
- 期刊名称：《European Journal of Human Genetics》 | 2012年第1期
- serpentine fibula polycystic kidney syndrome Hajdu–Cheney syndrome Melnick Needles syndrome NOTCH2;
40.Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature

机译：识别特发性矮小家族中首个包含上游SHOX增强子的PAR1缺失
- 作者：Sara Benito-Sanz;Miriam Aza-Carmona;Amaya Rodríguez-Estevez;Ixaso Rica-Etxebarria;Ricardo Gracia;Ángel Campos-Barros;Karen E Heath
- 期刊名称：《European Journal of Human Genetics》 | 2012年第1期
- SHOX enhancer Léri-Weill dyschondrosteosis LWD idiopathic short stature;
41.Clinical utility gene card for: multiple endocrine neoplasia type 2

机译：临床实用基因卡用于：2型多发性内分泌肿瘤
- 作者：Friedhelm Raue;Susanne Rondot;Egbert Schulze;Sylwia Szpak-Ulczok;Barbara Jarzab;Karin Frank-Raue
- 期刊名称：《European Journal of Human Genetics》 | 2012年第1期
42.Clinical utility gene card for: Mucopolysaccharidosis type II

机译：临床实用基因卡用于：II型黏多糖贮积病
- 作者：Michael Beck;Frits A Wijburg;Andreas Gal
- 期刊名称：《European Journal of Human Genetics》 | 2012年第1期
43.Clinical utility gene card for: Alveolar rhabdomyosarcoma

机译：临床实用基因卡用于：肺泡横纹肌肉瘤
- 作者：Zhongxin Yu;Anna Kelsey;Rita Alaggio;David Parham
- 期刊名称：《European Journal of Human Genetics》 | 2012年第1期
44.Current issues in medically assisted reproduction and genetics in Europe: research clinical practice ethics legal issues and policy

机译：欧洲医学辅助生殖和遗传学的当前问题：研究临床实践伦理法律问题和政策
- 作者：Joyce C Harper;Joep Geraedts;Pascal Borry;Martina C Cornel;Wybo Dondorp;Luca Gianaroli;Gary Harton;Tanya Milachich;Helena Kääriäinen;Inge Liebaers;Michael Morris;Jorge Sequeiros;Karen Sermon;Françoise Shenfield;Heather Skirton;Sirpa Soini;Claudia Spits;Anna Veiga;Joris Robert Vermeesch;Stéphane Viville;Guido de Wert;Milan Macek Jr
- 期刊名称：《European Journal of Human Genetics》 | 2013年第Suppl 2期
45.Controlling complexity: the clinical relevance of mouse complex genetics

机译：控制复杂性：小鼠复杂遗传学的临床意义
- 作者：Klaus Schughart;Claude Libert;Martien J Kas
- 期刊名称：《European Journal of Human Genetics》 | 2013年第11期
- Mouse model forward genetics review;
46.Citizens perspectives on personalized medicine: a qualitative public deliberation study

机译：市民对个性化医疗的看法：定性的公共审议研究
- 作者：Yvonne Bombard;Julia Abelson;Dorina Simeonov;Francois-Pierre Gauvin
- 期刊名称：《European Journal of Human Genetics》 | 2013年第11期
- personalized medicine genomic testing public engagement deliberative methods health policy health technology assessment;
47.Eliciting preferences for priority setting in genetic testing: a pilot study comparing best-worst scaling and discrete-choice experiments

机译：消除对基因测试中优先级设置的偏爱：一项比较最差标度和离散选择实验的试点研究
- 作者：Franziska Severin;Jörg Schmidtke;Axel Mühlbacher;Wolf H Rogowski
- 期刊名称：《European Journal of Human Genetics》 | 2013年第11期
- resource allocation priority setting discrete-choice experiment best-worst scaling genetic testing;
48.Understanding the impact of genetic testing for inherited retinal dystrophy

机译：了解基因检测对遗传性视网膜营养不良的影响
- 作者：Ryan Combs;Marion McAllister;Katherine Payne;Jo Lowndes;Sophie Devery;Andrew R Webster;Susan M Downes;Anthony T Moore;Simon Ramsden;Graeme Black;Georgina Hall
- 期刊名称：《European Journal of Human Genetics》 | 2013年第11期
- retinal dystrophy genetic testing service delivery qualitative interviews;
49.Benefits and drawbacks of preimplantation genetic diagnosis (PGD) for reciprocal translocations: lessons from a prospective cohort study

机译：植入前遗传学诊断（PGD）对相互易位的利弊：前瞻性队列研究的经验教训
- 作者：Paul N Scriven;Frances A Flinter;Yakoub Khalaf;Alison Lashwood;Caroline Mackie Ogilvie
- 期刊名称：《European Journal of Human Genetics》 | 2013年第10期
- PGD FISH reciprocal translocation diagnostic accuracy meiotic segregation;
50.Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54)

机译：磷脂酶DDHD2突变导致常染色体隐性遗传性痉挛性截瘫（SPG54）
- 作者：Michael Gonzalez;Sheela Nampoothiri;Cornelia Kornblum;Andrés Caballero Oteyza;Jochen Walter;Ioanna Konidari;William Hulme;Fiorella Speziani;Ludger Schöls;Stephan Züchner;Rebecca Schüle
- 期刊名称：《European Journal of Human Genetics》 | 2013年第11期
- Hereditary spastic paraplegia exome sequencing neurodegenerative disease;
51.The personal experience of parenting a child with Juvenile Huntingtons Disease: perceptions across Europe

机译：育有亨廷顿氏病青少年的孩子的亲身经历：整个欧洲的看法
- 作者：Virginia Eatough;Helen Santini;Christine Eiser;Marie-Louise Goller;Wioletta Krysa;‘Annunziata de Nicola;Matteo Paduanello;Martina Petrollini;Maria Rakowicz;Ferdinando Squitieri;Aad Tibben;Katie Lee Weille;Bernhard Landwehrmeyer;Oliver Quarrell;Jonathan A Smith
- 期刊名称：《European Journal of Human Genetics》 | 2013年第10期
- Juvenile Huntingtons disease parent qualitative;
52.Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects

机译：ICF综合征的异构临床表现：与潜在基因缺陷的相关性
- 作者：Corry MR Weemaes;Maarten JD van Tol;Jun Wang;Monique M van Ostaijen-ten Dam;Marja CJA van Eggermond;Peter E Thijssen;Caner Aytekin;Nicola Brunetti-Pierri;Mirjam van der Burg;E Graham Davies;Alina Ferster;Dieter Furthner;Giorgio Gimelli;Andy Gennery;Barbara Kloeckener-Gruissem;Stephan Meyn;Cynthia Powell;Ismail Reisli;Catharina Schuetz;Ansgar Schulz;Andrea Shugar;Peter J van den Elsen;Silvère M van der Maarel
- 期刊名称：《European Journal of Human Genetics》 | 2013年第11期
- ICF syndrome DNMT3B ZBTB24 genotype–phenotype;
53.Newborn bloodspot screening for Duchenne Muscular Dystrophy: 21 years experience in Wales (UK)

机译：杜兴氏肌营养不良症的新生儿血斑筛查：在威尔士（英国）有21年的工作经验
- 作者：Stuart J Moat;Donald M Bradley;Rachel Salmon;Angus Clarke;Louise Hartley
- 期刊名称：《European Journal of Human Genetics》 | 2013年第10期
- Duchenne muscular dystrophy newborn screening bloodspots creatine kinase false negatives;
54.André Boué (1925–2012)

机译：安德烈·布埃（1925–2012）
- 作者：Simone Gilgenkrantz;Claudine Junien
- 期刊名称：《European Journal of Human Genetics》 | 2013年第9期
55.Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy

机译：致心律失常性右室心肌病家族中PKP2基因缺失的鉴定
- 作者：Ilena Egle Astrid Li Mura;Barbara Bauce;Andrea Nava;Manuela Fanciulli;Giovanni Vazza;Elisa Mazzotti;Ilaria Rigato;Marzia De Bortoli;Giorgia Beffagna;Alessandra Lorenzon;Martina Calore;Emanuela Dazzo;Carlo Nobile;Maria Luisa Mostacciuolo;Domenico Corrado;Cristina Basso;Luciano Daliento;Gaetano Thiene;Alessandra Rampazzo
- 期刊名称：《European Journal of Human Genetics》 | 2013年第11期
- sudden death cardiomyopathy desmosome plakophilin-2 gene deletion;
56.Informed consent for whole-genome sequencing studies in the clinical setting. Proposed recommendations on essential content and process

机译：在临床环境中进行全基因组测序研究的知情同意。关于基本内容和程序的拟议建议
- 作者：Carmen Ayuso;José M Millán;Marta Mancheño;Rafael Dal-Ré
- 期刊名称：《European Journal of Human Genetics》 | 2013年第10期
- informed consent whole genome sequencing whole exome sequencing incidental findings ethical issues clinical setting;
57.Persistence and transmission of recessive deafness and sign language: new insights from village sign languages

机译：隐性耳聋和手语的持续存在和传播：乡村手语的新见解
- 作者：Alessandro Gialluisi;Dan Dediu;Clyde Francks;Simon E Fisher
- 期刊名称：《European Journal of Human Genetics》 | 2013年第9期
58.Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation

机译：与PRF1突变相关的亚急性反复共病毒后共济失调发作
- 作者：Cristina Dias;Allison McDonald;Murat Sincan;Rosemarie Rupps;Thomas Markello;Ramona Salvarinova;Rui F Santos;Kamal Menghrajani;Chidi Ahaghotu;Darren P Sutherland;Edgardo S Fortuno III;Tobias R Kollmann;Michelle Demos;Jan M Friedman;David P Speert;William A Gahl;Cornelius F Boerkoel
- 期刊名称：《European Journal of Human Genetics》 | 2013年第11期
- exome sequencing neurodegeneration cerebellar white matter familial hemophagocytic lymphohistiocytosis interleukin-1 beta;
59.A Delphi study to determine the European core curriculum for Master programmes in genetic counselling

机译：一项Delphi研究以确定遗传咨询硕士课程的欧洲核心课程
- 作者：Heather Skirton;Sivia Barnoy;Charlotta Ingvoldstad;Ingrid van Kessel;Christine Patch;Anita OConnor;Clara Serra-Juhe;Barbara Stayner;Marie-Antoinette Voelckel
- 期刊名称：《European Journal of Human Genetics》 | 2013年第10期
- education curriculum genetic counsellor Delphi study;
60.Cellular imaging demonstrates genetic mosaicism in heterozygous carriers of an X-linked ciliopathy gene

机译：细胞成像显示X连锁性纤毛病基因的杂合子携带者中的遗传镶嵌
- 作者：Sung Pyo Park;In Hwan Hong;Stephen H Tsang;Stanley Chang
- 期刊名称：《European Journal of Human Genetics》 | 2013年第11期
- X-linked retinitis pigmentosa carrier photoreceptor layer adaptive optics scanning laser ophthalmoscopy;
61.Broad consent versus dynamic consent in biobank research: Is passive participation an ethical problem?

机译：生物库研究中的广泛同意与动态同意：被动参与是否存在道德问题？
- 作者：Kristin Solum Steinsbekk;Bjørn Kåre Myskja;Berge Solberg
- 期刊名称：《European Journal of Human Genetics》 | 2013年第9期
- broad consent dynamic consent biobank research participation ethics;
62.Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical genetics and functional analysis

机译：新型等位基因变体和导致肾性低尿酸血症的URAT1普遍突变的证据：生化遗传和功能分析
- 作者：Blanka Stiburkova;Ivan Sebesta;Kimiyoshi Ichida;Makiko Nakamura;Helena Hulkova;Vladimir Krylov;Lenka Kryspinova;Helena Jahnova
- 期刊名称：《European Journal of Human Genetics》 | 2013年第10期
- renal hypouricemia SLC22A12 URAT1 uric acid transporters;
63.Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing

机译：小儿发作性远端肌病中的星状蛋白（NEB）突变下一代测序未发现杆和核
- 作者：Mariacristina Scoto;Thomas Cullup;Sebahattin Cirak;Shu Yau;Adnan Y Manzur;Lucy Feng;Thomas S Jacques;Glenn Anderson;Stephen Abbs;Caroline Sewry;Heinz Jungbluth;Francesco Muntoni
- 期刊名称：《European Journal of Human Genetics》 | 2013年第11期
- nebulin distal myopathy next generation sequencing;
64.Exploring resources for intrafamilial communication of cancer genetic risk: we still need to talk

机译：探索用于癌症遗传风险的家族内交流的资源：我们仍然需要谈
- 作者：Kelly A McClellan;Erika Kleiderman;Lee Black;Karine Bouchard;Michel Dorval;Jacques Simard;Bartha M Knoppers;Denise Avard
- 期刊名称：《European Journal of Human Genetics》 | 2013年第9期
- intrafamilial communication hereditary cancer risk patient materials;
65.Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

机译：Joubert综合征和相关疾病中INPP5E突变的表型谱和患病率
- 作者：Lorena Travaglini;Francesco Brancati;Jennifer Silhavy;Miriam Iannicelli;Elizabeth Nickerson;Nadia Elkhartoufi;Eric Scott;Emily Spencer;Stacey Gabriel;Sophie Thomas;Bruria Ben-Zeev;Enrico Bertini;Eugen Boltshauser;Malika Chaouch;Maria Roberta Cilio;Mirjam M de Jong;Hulya Kayserili;Gonul Ogur;Andrea Poretti;Sabrina Signorini;Graziella Uziel;Maha S Zaki;Colin Johnson;Tania Attié-Bitach;Joseph G Gleeson;Enza Maria Valente
- 期刊名称：《European Journal of Human Genetics》 | 2013年第10期
- INPP5E Joubert syndrome and related disorders Meckel syndrome ciliopathies;
66.The intellectual disability of trisomy 21: differences in gene expression in a case series of patients with lower and higher IQ

机译：21三体性智障：智商较低和较高的病例系列中基因表达的差异
- 作者：André Mégarbané;Florian Noguier;Samantha Stora;Laurent Manchon;Clotilde Mircher;Roman Bruno;Nathalie Dorison;Fabien Pierrat;Marie-Odile Rethoré;Bernadette Trentin;Aimé Ravel;Marine Morent;Gerard Lefranc;David Piquemal
- 期刊名称：《European Journal of Human Genetics》 | 2013年第11期
- Down syndrome Trisomy 21 intellectual disability gene expression HLA;
67.Genetics can contribute to the prognosis of Brugada syndrome: a pilot model for risk stratification

机译：遗传学可有助于预示Brugada综合征：风险分层的试验模型
- 作者：Elena Sommariva;Carlo Pappone;Filippo Martinelli Boneschi;Chiara Di Resta;Maria Rosaria Carbone;Erika Salvi;Pasquale Vergara;Simone Sala;Daniele Cusi;Maurizio Ferrari;Sara Benedetti
- 期刊名称：《European Journal of Human Genetics》 | 2013年第9期
- arrhythmia Brugada syndrome sudden death genetic variation risk stratification;
68.Functional and genetic characterization of two extremely rare cases of Williams–Beuren Syndrome associated with chronic granulomatous disease

机译：两例与慢性肉芽肿性疾病相关的威廉姆斯-伯伦氏综合症极为罕见的病例的功能和遗传学特征
- 作者：Marie J Stasia;Michèle Mollin;Cécile Martel;Véronique Satre;Charles Coutton;Florence Amblard;Gaëlle Vieville;Joris M van Montfrans;Jaap J Boelens;Hermine E Veenstra-Knol;Karen van Leeuwen;Martin de Boer;Jean-Paul Brion;Dirk Roos
- 期刊名称：《European Journal of Human Genetics》 | 2013年第10期
- Williams–Beuren syndrome chronic granulomatous disease NADPH oxidase p47phox ROS production Nox;
69.Novel progranulin mutations with reduced serum-progranulin levels in frontotemporal lobar degeneration

机译：在额颞叶变性中降低血清前颗粒蛋白水平的新型前颗粒蛋白突变
- 作者：Huei-Hsin Chiang;Charlotte Forsell;Lena Lilius;Linn Öijerstedt;Steinunn Thordardottir;Krishnan Shanmugarajan;Marie Westerlund;Inger Nennesmo;Håkan Thonberg;Caroline Graff
- 期刊名称：《European Journal of Human Genetics》 | 2013年第11期
- GRN FTLD progranulin ELISA;
70.New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants

机译：基于人群的新外显子组数据质疑以前与心肌病相关的遗传变异的致病性
- 作者：Charlotte Andreasen;Jonas B Nielsen;Lena Refsgaard;Anders G Holst;Alex H Christensen;Laura Andreasen;Ahmad Sajadieh;Stig Haunsø;Jesper H Svendsen;Morten S Olesen
- 期刊名称：《European Journal of Human Genetics》 | 2013年第9期
- cardiomyopathy exome next-generation sequencing HCM DCM ARVC;
71.Molecular and clinical delineation of the 17q22 microdeletion phenotype

机译：17q22微缺失表型的分子和临床描述
- 作者：Tobias Laurell;Johanna Lundin;Britt-Marie Anderlid;Jerome L Gorski;Giedre Grigelioniene;Samantha J L Knight;Ana C V Krepischi;Agneta Nordenskjöld;Susan M Price;Carla Rosenberg;Peter D Turnpenny;Angela M Vianna-Morgante;Ann Nordgren
- 期刊名称：《European Journal of Human Genetics》 | 2013年第10期
- 17q22 microdeletion array-CGH NOG;
72.Novel mutations in CRB1 and ABCA4 genes cause Leber congenital amaurosis and Stargardt disease in a Swedish family

机译：CRB1和ABCA4基因的新突变导致瑞典家庭中的Leber先天性黑病和Stargardt病
- 作者：Frida Jonsson;Marie S Burstedt;Ola Sandgren;Anna Norberg;Irina Golovleva
- 期刊名称：《European Journal of Human Genetics》 | 2013年第11期
- CRB1 ABCA4 SNP-array Stargardt disease Leber congenital amaurosis;
73.APC gene hypermethylation and prostate cancer: a systematic review and meta-analysis

机译：APC基因甲基化与前列腺癌：系统评价和荟萃分析
- 作者：Yang Chen;Jie Li;Xiaoxiang Yu;Shuai Li;Xuerong Zhang;Zengnan Mo;Yanling Hu
- 期刊名称：《European Journal of Human Genetics》 | 2013年第9期
- hypermethylation methylation prostate cancer adenomatous polyposis coli;
74.Genome-wide gene expression in a patient with 15q13.3 homozygous microdeletion syndrome

机译：15q13.3纯合微缺失综合征患者的全基因组基因表达
- 作者：Jean-Baptiste Le Pichon;Shihui Yu;Nataliya Kibiryeva;William D Graf;Douglas C Bittel
- 期刊名称：《European Journal of Human Genetics》 | 2013年第10期
- genome-wide microarray 15q13.3 deletion CHRNA7 TRPM1 MTMR10;
75.Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability

机译：重复中断对脊髓小脑共济失调10型扩张和重复不稳定的悖论效应
- 作者：Karen N McFarland;Jilin Liu;Ivette Landrian;Rui Gao;Partha S Sarkar;Salmo Raskin;Mariana Moscovich;Emilia M Gatto;Hélio A G Teive;Adriana Ochoa;Astrid Rasmussen;Tetsuo Ashizawa
- 期刊名称：《European Journal of Human Genetics》 | 2013年第11期
- repeat instability repeat interruptions anticipation;
76.Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings

机译：超声发现异常的胎儿中Noonan综合征基因的产前诊断测试
- 作者：Ellen A Croonen;Willy M Nillesen;Kyra E Stuurman;Gretel Oudesluijs;Ingrid M B M van de Laar;Liesbeth Martens;Charlotte Ockeloen;Inge B Mathijssen;Marga Schepens;Martina Ruiterkamp-Versteeg;Hans Scheffer;Brigitte H W Faas;Ineke van der Burgt;Helger G Yntema
- 期刊名称：《European Journal of Human Genetics》 | 2013年第9期
- Noonan syndrome nuchal translucency prenatal testing mutation analysis;
77.Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability

机译：MED13L的剂量变化进一步描述了其在先天性心脏病和智力障碍中的作用
- 作者：Reza Asadollahi;Beatrice Oneda;Frenny Sheth;Silvia Azzarello-Burri;Rosa Baldinger;Pascal Joset;Beatrice Latal;Walter Knirsch;Soaham Desai;Alessandra Baumer;Gunnar Houge;Joris Andrieux;Anita Rauch
- 期刊名称：《European Journal of Human Genetics》 | 2013年第10期
- congenital heart defect intellectual disability MED13L copy number changes neurocristopathy;
78.Population structure migration and diversifying selection in the Netherlands

机译：荷兰的人口结构移民和多元化选择
- 作者：Abdel Abdellaoui;Jouke-Jan Hottenga;Peter de Knijff;Michel G Nivard;Xiangjun Xiao;Paul Scheet;Andrew Brooks;Erik A Ehli;Yueshan Hu;Gareth E Davies;James J Hudziak;Patrick F Sullivan;Toos van Beijsterveldt;Gonneke Willemsen;Eco J de Geus;Brenda W J H Penninx;Dorret I Boomsma
- 期刊名称：《European Journal of Human Genetics》 | 2013年第11期
- PCA linkage disequilibrium population structure migration diversifying selection Netherlands;
79.Trends in maternal age distribution and the live birth prevalence of Downs syndrome in England and Wales: 1938–2010

机译：英格兰和威尔士的孕产妇年龄分布和唐氏综合症的活产流行趋势：1938年至2010年
- 作者：Jianhua Wu;Joan K Morris
- 期刊名称：《European Journal of Human Genetics》 | 2013年第9期
- Downs syndrome maternal age live birth prevalence;
80.Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy

机译：通过外显子组测序发现重度扩张型心肌病的双重杂合性LMNA和TTN突变
- 作者：Roberta Roncarati;Chiara Viviani Anselmi;Peter Krawitz;Giovanna Lattanzi;Yskert von Kodolitsch;Andreas Perrot;Elisa di Pasquale;Laura Papa;Paola Portararo;Marta Columbaro;Alberto Forni;Giuseppe Faggian;Gianluigi Condorelli;Peter N Robinson
- 期刊名称：《European Journal of Human Genetics》 | 2013年第10期
- familial dilated cardiomyopathy lamin A/C titin whole-exome sequencing modifying variant;
81.Comparison of genetic variation of breast cancer susceptibility genes in Chinese and German populations

机译：中国和德国人群乳腺癌易感基因遗传变异比较
- 作者：David Barzan;Marlon R Veldwijk;Carsten Herskind;Yang Li;Bo Zhang;Elena Sperk;Wei-Dong Du;Xue-Jun Zhang;Frederik Wenz
- 期刊名称：《European Journal of Human Genetics》 | 2013年第11期
- breast cancer single-nucleotide polymorphism (SNP) association studies Chinese population German population;
82.Comparative study of artificial chromosome centromeres in human and murine cells

机译：人和鼠细胞中人工染色体着丝粒的比较研究
- 作者：Daniela Moralli;Andrew Jefferson;Emanuela Valeria Volpi;Zoia Larin Monaco
- 期刊名称：《European Journal of Human Genetics》 | 2013年第9期
- human artificial chromosomes centromere chromatin immuno-precipitation.;
83.Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL

机译：ADCNHL家族中KCNQ4（DFNA2A）的新型框内缺失的鉴定和多个未知表型的证据
- 作者：Nelly Abdelfatah;David A McComiskey;Lance Doucette;Anne Griffin;Susan J Moore;Carol Negrijn;Kathy A Hodgkinson;Justin J King;Mani Larijani;Jim Houston;Susan G Stanton;Terry-Lynn Young
- 期刊名称：《European Journal of Human Genetics》 | 2013年第10期
- deafness KCNQ4 DFNA2 ADSNHL audio profiles novel mutation;
84.Association between a 15q25 gene variant nicotine-related habits lung cancer and COPD among 56 307 individuals from the HUNT study in Norway

机译：挪威HUNT研究的56 307个人中15q25基因变异尼古丁相关习惯肺癌和COPD之间的关联
- 作者：Maiken E Gabrielsen;Pål Romundstad;Arnulf Langhammer;Hans E Krokan;Frank Skorpen
- 期刊名称：《European Journal of Human Genetics》 | 2013年第11期
- genetic association lung cancer nicotine addiction COPD snus;
85.Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7

机译：四个新患者的C6orf221 / KHDC3L蛋白截短突变并与NLRP7共定位的报告
- 作者：Ramesh Reddy;Elie Akoury;Ngoc Minh Phuong Nguyen;Omar A Abdul-Rahman;Christine Dery;Neerja Gupta;William P Daley;Asangla Ao;Hanene Landolsi;Rosemary Ann Fisher;Isabelle Touitou;Rima Slim
- 期刊名称：《European Journal of Human Genetics》 | 2013年第9期
- KHDC3L 4-bp deletion diploid biparental hydatidiform mole NLRP7 colocalization;
86.MED12 exon 2 mutations in histopathological uterine leiomyoma variants

机译：组织病理性子宫平滑肌瘤变异中的MED12外显子2突变
- 作者：Netta Mäkinen;Pia Vahteristo;Kati Kämpjärvi;Johanna Arola;Ralf Bützow;Lauri A Aaltonen
- 期刊名称：《European Journal of Human Genetics》 | 2013年第11期
- uterine fibroid uterine leiomyoma variants MED12 FH;
87.Mild Beckwith-Wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p

机译：轻度Beckwith-Wiedemann和严重的长QT综合征原因是11p号染色体上的印迹中心2缺失
- 作者：Fiorella Gurrieri;Marcella Zollino;Antonio Oliva;Vincenzo Pascali;Daniela Orteschi;Roberta Pietrobono;Antonella Camporeale;Monica Coll Vidal;Sara Partemi;Ramon Brugada;Fulvio Bellocci;Giovanni Neri
- 期刊名称：《European Journal of Human Genetics》 | 2013年第9期
- imprinting center 2 deletion beckwith-wiedeman syndrome long-QT1 syndrome;
88.A global map for dissecting phenotypic variants in human lincRNAs

机译：解剖人类lincRNA中表型变异的全球图谱
- 作者：Shangwei Ning;Peng Wang;Jingrun Ye;Xiang Li;Ronghong Li;Zuxianglan Zhao;Xiao Huo;Li Wang;Feng Li;Xia Li
- 期刊名称：《European Journal of Human Genetics》 | 2013年第10期
- large intergenic noncoding RNA (lincRNA) single-nucleotide polymorphism (SNP) evolutionarily conserved region (ECR) RNA secondary structure disease pathogenesis;
89.Intragenic deletions of the IGF1 receptor gene in five individuals with psychiatric phenotypes and developmental delay

机译：五种精神病表型和发育迟缓个体中IGF1受体基因的基因内缺失
- 作者：Jens Witsch;Przemyslaw Szafranski;Chun-An Chen;LaDonna Immken;Gayle Simpson Patel;Patricia Hixson;Sau Wai Cheung;Pawel Stankiewicz;Christian P Schaaf
- 期刊名称：《European Journal of Human Genetics》 | 2013年第11期
- 15q26.3 IGF1 receptor microdeletion neuropsychiatric disease;
90.Intron 22 homologous regions are implicated in exons 1–22 duplications of the F8 gene

机译：内含子22同源区域与F8基因的外显子1-22重复有关
- 作者：Nathalie Lannoy;Bernard Grisart;Stéphane Eeckhoudt;Christine Verellen-Dumoulin;Catherine Lambert;Miikka Vikkula;Cédric Hermans
- 期刊名称：《European Journal of Human Genetics》 | 2013年第9期
- hemophilia F8 gene genomic duplication CGH array int22h repeats;
91.The influence of clan structure on the genetic variation in a single Ghanaian village

机译：氏族结构对加纳单个村庄遗传变异的影响
- 作者：Hernando Sanchez-Faddeev;Jeroen Pijpe;Tom van der Hulle;Hans J Meij;Kristiaan J van der Gaag;P Eline Slagboom;Rudi G J Westendorp;Peter de Knijff
- 期刊名称：《European Journal of Human Genetics》 | 2013年第10期
- Y-chromosome mtDNA haplogroup patrilineal patrilocal;
92.The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population

机译：纯合度指数（HI）方法揭示了撒丁岛人群威尔逊病的高等位基因频率
- 作者：Alessandro Gialluisi;Simona Incollu;Tommaso Pippucci;Maria Barbara Lepori;Antonietta Zappu;Georgios Loudianos;Giovanni Romeo
- 期刊名称：《European Journal of Human Genetics》 | 2013年第11期
- Wilson disease genetic epidemiology consanguinity homozygosity index;
93.Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes

机译：基于定制寡核苷酸阵列的CGH：一种可靠的诊断工具可检测多个目标基因中外显子拷贝数的变化
- 作者：Aurélie Vasson;Céline Leroux;Lucie Orhant;Mathieu Boimard;Aurélie Toussaint;Chrystel Leroy;Virginie Commere;Tiffany Ghiotti;Nathalie Deburgrave;Yoann Saillour;Isabelle Atlan;Corinne Fouveaut;Cherif Beldjord;Sophie Valleix;France Leturcq;Catherine Dodé;Thierry Bienvenu;Jamel Chelly;Mireille Cossée
- 期刊名称：《European Journal of Human Genetics》 | 2013年第9期
- CGH array oligonucleotide probes copy-number mutations CNMs complex rearrangements;
94.Inference of identity by descent in population isolates and optimal sequencing studies

机译：血统分离株的血统推断和最佳测序研究
- 作者：Dominik Glodzik;Pau Navarro;Veronique Vitart;Caroline Hayward;Ruth McQuillan;Sarah H Wild;Malcolm G Dunlop;Igor Rudan;Harry Campbell;Chris Haley;Alan F Wright;James F Wilson;Paul McKeigue
- 期刊名称：《European Journal of Human Genetics》 | 2013年第10期
- IBD isolates resequencing;
95.Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients

机译：荷兰遗传性痉挛性截瘫11型患者病情迅速恶化
- 作者：Susanne T de Bot;Rogier C Burggraaff;Johanna C Herkert;Helenius J Schelhaas;Bart Post;Adinda Diekstra;Reinout O van Vliet;Marjo S van der Knaap;Erik-Jan Kamsteeg;Hans Scheffer;Bart P van de Warrenburg;Corien C Verschuuren-Bemelmans;Hubertus PH Kremer
- 期刊名称：《European Journal of Human Genetics》 | 2013年第11期
- corpus callosum/pathology mutation/genetics prognosis psychoses hereditary spastic paraplegia human SPG11 protein;
96.Genome-wide analysis shows association of epigenetic changes in regulators of Rab and Rho GTPases with spinal muscular atrophy severity

机译：全基因组分析显示Rab和Rho GTPases调节因子的表观遗传变化与脊髓性肌萎缩严重程度相关
- 作者：Galina Y Zheleznyakova;Sarah Voisin;Anton V Kiselev;Markus Sällman Almén;Miguel J Xavier;Marianna A Maretina;Lyudmila I Tishchenko;Robert Fredriksson;Vladislav S Baranov;Helgi B Schiöth
- 期刊名称：《European Journal of Human Genetics》 | 2013年第9期
- SMA DNA methylation profile CpG sites;
97.Positive selection of protective variants for type 2 diabetes from the Neolithic onward: a case study in Central Asia

机译：从新石器时代开始积极选择2型糖尿病保护性变体：中亚的案例研究
- 作者：Laure Ségurel;Frederic Austerlitz;Bruno Toupance;Mathieu Gautier;Joanna L Kelley;Patrick Pasquet;Christine Lonjou;Myriam Georges;Sarah Voisin;Corinne Cruaud;Arnaud Couloux;Tatyana Hegay;Almaz Aldashev;Renaud Vitalis;Evelyne Heyer
- 期刊名称：《European Journal of Human Genetics》 | 2013年第10期
- type 2 diabetes genetic adaptation Central Asia thrifty genotype human evolution;
98.Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome

机译：日本Perlman综合征患者中LINE-1之间非等位基因同源重组导致DIS3L2外显子9纯合缺失
- 作者：Ken Higashimoto;Toshiyuki Maeda;Junichiro Okada;Yasufumi Ohtsuka;Kensaku Sasaki;Akiko Hirose;Makoto Nomiyama;Toshimitsu Takayanagi;Ryuji Fukuzawa;Hitomi Yatsuki;Kayoko Koide;Kenichi Nishioka;Keiichiro Joh;Yoriko Watanabe;Koh-ichiro Yoshiura;Hidenobu Soejima
- 期刊名称：《European Journal of Human Genetics》 | 2013年第11期
- LINE-1 non-allelic homologous recombination Perlman syndrome exon deletion;
99.Genes identified in Asian SLE GWASs are also associated with SLE in Caucasian populations

机译：在亚洲SLE GWAS中鉴定的基因也与高加索人群的SLE相关
- 作者：Chuan Wang;Annika Ahlford;Tiina M Järvinen;Gunnel Nordmark;Maija-Leena Eloranta;Iva Gunnarsson;Elisabet Svenungsson;Leonid Padyukov;Gunnar Sturfelt;Andreas Jönsen;Anders A Bengtsson;Lennart Truedsson;Catharina Eriksson;Solbritt Rantapää-Dahlqvist;Christopher Sjöwall;Heikki Julkunen;Lindsey A Criswell;Robert R Graham;Timothy W Behrens;Juha Kere;Lars Rönnblom;Ann-Christine Syvänen;Johanna K Sandling
- 期刊名称：《European Journal of Human Genetics》 | 2013年第9期
- systemic lupus erythematosus genetic-association study Asian Caucasian;
100.Influence of TIMP3/SYN3 polymorphisms on the phenotypic presentation of age-related macular degeneration

机译：TIMP3 / SYN3多态性对年龄相关性黄斑变性的表型表现的影响
- 作者：Daniel Ardeljan;Catherine B Meyerle;Elvira Agron;Jie Jin Wang;Paul Mitchell;Emily Y Chew;Jing Zhao;Arvydas Maminishkis;Chi-Chao Chan;Jingsheng Tuo
- 期刊名称：《European Journal of Human Genetics》 | 2013年第10期
- age-related macular degeneration TIMP3 phenotype single-nucleotide polymorphism Blue Mountains Eye Study Age-Related Eye Diseases Study;