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The Application of Clinical Genetics

【机译】：临床遗传学中的应用

ISSN：-
出版周期：Irregular
语言：English

起始发布年份：2008
出版者：[Auckland, N.Z.] : Dove Medical Press
出版地：New Zealand

数据库引入：PubMed: v1, 2008-, PMC

MeSH词表主题词：Genetics, Medical*

备注：Archived by the National Library of New Zealand. Articles added irregularly展开▼

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1.Clinical applications of schizophrenia genetics: genetic diagnosis risk and counseling in the molecular era

机译：精神分裂症遗传学的临床应用：分子时代的遗传诊断风险和咨询
- 作者：Gregory Costain;Anne S Bassett
- 期刊名称：《The Application of Clinical Genetics》 | 2012年第-1期
- schizophrenia genetics 22q11 deletion syndrome copy number variation genetic counseling genetic predisposition to disease;
2.Chronic lymphocytic leukemia-associated chromosomal abnormalities and miRNA deregulation

机译：慢性淋巴细胞白血病相关的染色体异常和miRNA失调
- 作者：Yvonne Kiefer;Christoph Schulte;Markus Tiemann;Joern Bullerdiek
- 期刊名称：《The Application of Clinical Genetics》 | 2012年第-1期
- chronic lymphocytic leukemia chromosomal abnormality miRNA deregulation;
3.Gene therapy for the treatment of cystic fibrosis

机译：基因疗法治疗囊性纤维化
- 作者：Tabinda J Burney;Jane C Davies
- 期刊名称：《The Application of Clinical Genetics》 | 2012年第-1期
- cystic fibrosis transmembrane conductance regulator (CFTR) gene gene expression gene transfer agents (GTAs) outcome measures;
4.Familial amyloidotic polyneuropathy: current and emerging treatment options for transthyretin-mediated amyloidosis

机译：家族性淀粉样变性多发性神经病：运甲状腺素蛋白介导的淀粉样变性病的当前和新兴治疗选择
- 作者：Ernst Hund
- 期刊名称：《The Application of Clinical Genetics》 | 2012年第-1期
- FAP transthyretin amyloidosis treatment therapy;
5.Congenital protein hypoglycosylation diseases

机译：先天蛋白低糖基化疾病
- 作者：Susan E Sparks
- 期刊名称：《The Application of Clinical Genetics》 | 2012年第-1期
- congenital disorders of glycosylation dystroglycanopathies hypoglycosylation glycoproteins;
6.The genetic basis of severe combined immunodeficiency and its variants

机译：严重合并免疫缺陷及其变异的遗传基础
- 作者：Diana Tasher;Ilan Dalal
- 期刊名称：《The Application of Clinical Genetics》 | 2012年第-1期
- severe combined immune deficiency molecular defects lymphocytes;
7.Skeletal muscle SIRT1 and the genetics of metabolic health: therapeutic activation by pharmaceuticals and exercise

机译：骨骼肌SIRT1和代谢健康的遗传学：药物和运动对治疗的激活
- 作者：Cameron B Williams;Brendon J Gurd
- 期刊名称：《The Application of Clinical Genetics》 | 2012年第-1期
- SIRT1 PGC-1α resveratrol obesity metabolic disease exercise;
8.Genetics of hearing loss: focus on DFNA2

机译：听力损失的遗传学：专注于DFNA2
- 作者：Laura M Dominguez;Kelley M Dodson
- 期刊名称：《The Application of Clinical Genetics》 | 2012年第-1期
- deafness nonsyndromic autosomal dominant 2 nonsyndromic deafness genetic hearing loss GJB3 KCNQ4;
9.The genetics of neuroendocrine prostate cancers: a review of current and emerging candidates

机译：神经内分泌前列腺癌的遗传学：当前和新兴候选人的审查。
- 作者：M Hammad Ather;Tahmeena Siddiqui
- 期刊名称：《The Application of Clinical Genetics》 | 2012年第-1期
- prostate cancer epigenetic genetic neuroendocrine differentiation;
10.The application of clinical genetics

机译：临床遗传学的应用
- 作者：Martin H Maurer
- 期刊名称：《The Application of Clinical Genetics》 | 2012年第-1期
11.Association analysis of genetic variations of eNOS and α2β1 integrin genes with type 2 diabetic retinopathy

机译：eNOS和α2β1整合素基因遗传变异与2型糖尿病视网膜病变的相关性分析
- 作者：Rania Azmy;Ashraf Dawood;Ayman Kilany;Yasser El-Ghobashy;Amin Faisal Ellakwa;May El-Daly
- 期刊名称：《The Application of Clinical Genetics》 | 2012年第-1期
- polymorphism retinopathy diabetes Egypt retinal vasculature;
12.Association of deletion allele of insertion/deletion polymorphism in α2B adrenoceptor gene and hypertension with or without type 2 diabetes mellitus

机译：α2B肾上腺素能受体基因插入/缺失多态性缺失等位基因与2型糖尿病有无的高血压相关性
- 作者：Safaa I Tayel;Heba F Khader;Nesreen G El-Helbawy;Waleed A Ibrahim
- 期刊名称：《The Application of Clinical Genetics》 | 2012年第-1期
- insertion/deletion polymorphism α2B adrenoceptor gene hypertension type 2 diabetes mellitus;
13.Clinical and molecular characterization of a patient with a combination of a deletion and a duplication of 22q13 using array CGH

机译：使用阵列CGH对22q13缺失和重复相结合的患者进行临床和分子表征
- 作者：Isabel Ochando;Antonio Urbano;Juana Rubio;Joaquín Rueda
- 期刊名称：《The Application of Clinical Genetics》 | 2012年第-1期
- 22q13 deletion subtelomeric rearrangements Phelan-McDermid syndrome genotype-phenotype correlations;
14.FAM13A locus in COPD is independently associated with lung cancer – evidence of a molecular genetic link between COPD and lung cancer

机译：COPD中的FAM13A基因座与肺癌独立相关-COPD与肺癌之间存在分子遗传联系的证据
- 作者：Robert P Young;Raewyn J Hopkins;Bryan A Hay;Chris F Whittington;Michael J Epton;Gregory D Gamble
- 期刊名称：《The Application of Clinical Genetics》 | 2011年第-1期
- lung cancer chronic obstructive pulmonary disease FAM13A association study polymorphism GTPase;
15.DataGenno: building a new tool to bridge molecular and clinical genetics

机译：DataGenno：构建连接分子和临床遗传学的新工具
- 作者：Fabricio F Costa;Luciano S Foly;Marcelo P Coutinho
- 期刊名称：《The Application of Clinical Genetics》 | 2011年第-1期
- genetic diseases signs and symptoms molecular genetics genomics search engine database;
16.GSTM1 null genotype in COPD and lung cancer: evidence of a modifier or confounding effect?

机译：COPD和肺癌中的GSTM1空基因型：修饰因子或混杂效应的证据？
- 作者：Robert P Young;Raewyn J Hopkins;Bryan A Hay;Gregory D Gamble
- 期刊名称：《The Application of Clinical Genetics》 | 2011年第-1期
- lung cancer chronic obstructive pulmonary disease GSTM1 association study polymorphism copy number variant;
17.The genetics of breast cancer: risk factors for disease

机译：乳腺癌的遗传学：疾病的危险因素
- 作者：Andrew Collins;Ioannis Politopoulos
- 期刊名称：《The Application of Clinical Genetics》 | 2011年第-1期
- breast cancer common and rare genetic variation missing heritability bioinformatics exome sequencing;
18.Interleukin-1β inhibitors for the treatment of cryopyrin-associated periodic syndrome

机译：白细胞介素-1β抑制剂用于治疗冻疮相关的周期性综合征
- 作者：Eugen Dhimolea
- 期刊名称：《The Application of Clinical Genetics》 | 2011年第-1期
- CAPS IL-1β NLRP3 canakinumab anakinra;
19.Novel compounds for the treatment of Duchenne muscular dystrophy: emerging therapeutic agents

机译：用于治疗杜氏肌营养不良症的新型化合物：新兴治疗剂
- 作者：Steve D Wilton;Sue Fletcher
- 期刊名称：《The Application of Clinical Genetics》 | 2011年第-1期
- Duchenne muscular dystrophy molecular therapeutics small molecules;
20.Alpha1-antitrypsin deficiency: a clinical-genetic overview

机译：Alpha1-抗胰蛋白酶缺乏症：临床遗传概述
- 作者：Raja T Abboud;Tanya N Nelson;Benjamin Jung;Andre Mattman
- 期刊名称：《The Application of Clinical Genetics》 | 2011年第-1期
- AAT AATD ZZ early onset emphysema panacinar emphysema neonatal jaundice and hepatitis childhood liver disease genetics of alpha1-antitrypsin alpha1-antitrypsin laboratory testing and phenotyping;
21.Genetic basis of Parkinson’s disease: inheritance penetrance and expression

机译：帕金森氏病的遗传基础：遗传外显和表达
- 作者：Claudia Schulte;Thomas Gasser
- 期刊名称：《The Application of Clinical Genetics》 | 2011年第-1期
- Parkinson’s disease genetics SNCA LRRK2 GBA MAPT;
22.Identifying the genetic components underlying the pathophysiology of movement disorders

机译：确定运动障碍病理生理的遗传成分
- 作者：Mario Ezquerra;Yaroslau Compta;Maria J Marti
- 期刊名称：《The Application of Clinical Genetics》 | 2011年第-1期
- genetics movement disorders Parkinson’s disease parkinsonism dystonia;
23.Genetic variations and associated pathophysiology in the management of epilepsy

机译：癫痫病的遗传变异和相关病理生理学
- 作者：John C Mulley;Leanne M Dibbens
- 期刊名称：《The Application of Clinical Genetics》 | 2011年第-1期
- array CGH copy number variants epilepsy ion channels massively parallel sequencing next generation sequencing susceptibility genes;
24.N-acetylglutamate synthase deficiency: an insight into the genetics epidemiology pathophysiology and treatment

机译：N-乙酰谷氨酸合酶缺乏症：遗传学流行病学病理生理学和治疗的见解
- 作者：Nicholas Ah Mew;Ljubica Caldovic
- 期刊名称：《The Application of Clinical Genetics》 | 2011年第-1期
- urea cycle urea cycle disorder N-acetyl-L-glutamate N-acetylglutamate synthase hyperammonemia N-carbamyl-L-glutamate;
25.Inherited and acquired alterations in development of breast cancer

机译：乳腺癌发展的遗传性和后天性改变
- 作者：Piera Rizzolo;Valentina Silvestri;Mario Falchetti;Laura Ottini
- 期刊名称：《The Application of Clinical Genetics》 | 2011年第-1期
- breast cancer inherited susceptibility acquired alterations epigenetics;
26.A Lebanese family with autosomal recessive oculo-auriculo-vertebral (OAV) spectrum and review of the literature: is OAV a genetically heterogeneous disorder?

机译：一个黎巴嫩人具有常染色体隐性眼-耳-耳-椎（OAV）谱并进行文献综述：OAV是遗传异质性疾病吗？
- 作者：Chantal Farra;Khaled Yunis;Nadine Yazbeck;Marianne Majdalani;Lama Charafeddine;Rima Wakim;Johnny Awwad
- 期刊名称：《The Application of Clinical Genetics》 | 2011年第-1期
- oculo-auriculo-vertebral spectrum Goldenhar syndrome diaphragmatic hernia neural tube defect;
27.Genetic evidence linking lung cancer and COPD: a new perspective

机译：关联肺癌和COPD的遗传证据：新观点
- 作者：Robert P Young;Raewyn J Hopkins;Gregory D Gamble;Carol Etzel;Randa El-Zein;James D Crapo
- 期刊名称：《The Application of Clinical Genetics》 | 2011年第-1期
- lung cancer chronic obstructive pulmonary disease association study single nucleotide polymorphism risk model;
28.Inheritance of craniofacial features in Colombian families with class III malocclusion

机译：患有III类错牙合畸形的哥伦比亚家庭的颅面特征的遗传
- 作者：L Otero;L Quintero;D Champsaur;E Simanca
- 期刊名称：《The Application of Clinical Genetics》 | 2010年第-1期
- inheritance craniofacial phenotype class III malocclusion;
29.Gene polymorphisms in association with self-reported stroke in US adults

机译：基因多态性与美国成年人自我报告的中风相关
- 作者：Amy Z Fan;Jing Fang;Ajay Yesupriya;Man-huei Chang;Greta Kilmer;Meaghan House;Donald Hayes;Renée M Ned;Nicole F Dowling;Ali H Mokdad
- 期刊名称：《The Application of Clinical Genetics》 | 2010年第-1期
- stroke gene polymorphisms NHANES III gene association analysis;
30.Congenital malformations in Ecuadorian children: urgent need to create a National Registry of Birth Defects

机译：厄瓜多尔儿童的先天性畸形：迫切需要建立国家出生缺陷登记处
- 作者：Fabricio González-Andrade;Ramiro López-Pulles
- 期刊名称：《The Application of Clinical Genetics》 | 2010年第-1期
- Ecuador genetics birth defects surveillance database prevalence epidemiology congenital malformations;
31.Amniotic band syndrome and/or limb body wall complex: split or lump

机译：羊膜带综合征和/或肢体壁复合体：分裂或肿块
- 作者：Ashutosh Halder
- 期刊名称：《The Application of Clinical Genetics》 | 2010年第-1期
- amniotic band syndrome limb body wall complex and pathogenesis;
32.Genetic and molecular mechanisms in multiple myeloma: a route to better understand disease pathogenesis and heterogeneity

机译：多发性骨髓瘤的遗传和分子机制：更好地了解疾病发病机理和异质性的途径
- 作者：Marie-Christine Kyrtsonis;Vassiliki Bartzis;Xenophon Papanikolaou;Efstathios Koulieris;George Georgiou;Maria Dimou;Tatiana Tzenou;Panayiotis Panayiotidis
- 期刊名称：《The Application of Clinical Genetics》 | 2010年第-1期
- myeloma pathogenesis genetic abnormalities heterogeneity prognosis;
33.The genetic basis of familial hypercholesterolemia: inheritance linkage and mutations

机译：家族性高胆固醇血症的遗传基础：遗传连锁和突变
- 作者：Isabel De Castro-Orós;Miguel Pocoví;Fernando Civeira
- 期刊名称：《The Application of Clinical Genetics》 | 2010年第-1期
- LDLR APOB PCSK9 LDL cholesterol;
34.Genetic contribution and associated pathophysiology in end-stage renal disease

机译：终末期肾脏疾病的遗传贡献和相关病理生理
- 作者：Suraksha Agrawal;SS Agarwal;Sita Naik
- 期刊名称：《The Application of Clinical Genetics》 | 2010年第-1期
- genetic polymorphism MYH9 renin-angiotensin system (RAS) genome-wide analysis (WGA or GWA) end-stage renal disease;
35.Diagnostic criteria specific mutations and genetic predisposition in gastrointestinal stromal tumors

机译：胃肠道间质瘤的诊断标准特异性突变和遗传易感性
- 作者：Jean-Baptiste Bachet;Jean-François Emile
- 期刊名称：《The Application of Clinical Genetics》 | 2010年第-1期
- gastrointestinal stromal tumors KIT PDGFRA genetic predispositions imatinib;
36.Psychogenetics of post-traumatic stress disorder: a short review

机译：创伤后应激障碍的心理遗传学：简短回顾
- 作者：Ahmed Rady;Adel Elsheshai;Osama Elkholy;Heba Abou el Wafa
- 期刊名称：《The Application of Clinical Genetics》 | 2010年第-1期
- trauma post traumatic stress disorder psychogenetic stress response neurobiology;
37.Allergic rhinitis and genetic components: focus on Toll-like receptors (TLRs) gene polymorphism

机译：过敏性鼻炎和遗传成分：专注于Toll样受体（TLRs）基因多态性
- 作者：Zhiwei Gao;Donna C Rennie;Ambikaipakan Senthilselvan
- 期刊名称：《The Application of Clinical Genetics》 | 2010年第-1期
- allergic rhinitis allergic diseases Toll-like receptors;
38.Management of the asymptomatic BRCA mutation carrier

机译：无症状BRCA突变携带者的管理
- 作者：Paige Teller;Rita K Kramer
- 期刊名称：《The Application of Clinical Genetics》 | 2010年第-1期
- high risk screening risk reduction hereditary breast cancer syndrome;
39.Recent developments in the treatment of acute abdominal and facial attacks of hereditary angioedema: focus on human C1 esterase inhibitor

机译：遗传性血管性水肿的急性腹部和面部发作的治疗的新进展：专注于人类C1酯酶抑制剂
- 作者：Lourdes Pastó Cardona;Ramon Lleonart Bellfill;Joaquim Marcoval Caus
- 期刊名称：《The Application of Clinical Genetics》 | 2010年第-1期
- hereditary angioedema C1 esterase inhibitor acute attacks;
40.Genetic screening for homozygous and heterozygous familial hypercholesterolemia

机译：纯合子和杂合子家族性高胆固醇血症的基因筛查
- 作者：Maria C Izar;Valéria A Machado;Francisco A Fonseca
- 期刊名称：《The Application of Clinical Genetics》 | 2010年第-1期
- familial hypercholesterolemia familial defective Apo B cholesterol mutations genetic screening;
41.Disorders caused by chromosome abnormalities

机译：染色体异常引起的疾病
- 作者：Aaron Theisen;Lisa G Shaffer
- 期刊名称：《The Application of Clinical Genetics》 | 2010年第-1期
- chromosome deletion duplication telomere segmental duplication;
42.Association of the BANK 1 R61H variant with systemic lupus erythematosus in Americans of European and African ancestry

机译：在欧洲和非洲血统的美国人中BANK 1 R61H变体与系统性红斑狼疮的关联
- 作者：Struan FA Grant;Michelle Petri;Jonathan P Bradfield;Cecilia E Kim;Erin Santa;Kiran Annaiah;Edward C Frackelton;Joseph T Glessner;F George Otieno;Julie L Shaner;Ryan M Smith;Andrew W Eckert;Rosetta M Chiavacci;Marcin Imielinski;Kathleen E Sullivan;Hakon Hakonarson
- 期刊名称：《The Application of Clinical Genetics》 | 2009年第-1期
- systemic lupus erythematosus African Americans European Americans BANK1 gene;
43.The genetic overlap of attention deficit hyperactivity disorder and autistic spectrum disorder

机译：注意缺陷多动障碍和自闭症谱系障碍的遗传重叠
- 作者：Arie J Stam;Patricia F Schothorst;Jacob AS Vorstman;Wouter G Staal
- 期刊名称：《The Application of Clinical Genetics》 | 2009年第-1期
- ADHD autism genetic overlap;
44.Genetics of tuberous sclerosis complex: implications for clinical practice

机译：结节性硬化症的遗传学：对临床实践的启示
- 作者：Carolina Caban;Nubaira Khan;Daphne M Hasbani;Peter B Crino
- 期刊名称：《The Application of Clinical Genetics》 | 2017年第-1期
- TSC epilepsy genetics mTOR rapamycin;
45.Update on the clinical management of Wilson’s disease

机译：威尔逊氏病临床治疗的最新进展
- 作者：Peter Hedera
- 期刊名称：《The Application of Clinical Genetics》 | 2017年第-1期
- Wilson’s disease copper ATP7B chelation gene therapy;
46.Mitochondrial diseases: advances and issues

机译：线粒体疾病：进展和问题
- 作者：Mauro Scarpelli;Alice Todeschini;Irene Volonghi;Alessandro Padovani;Massimiliano Filosto
- 期刊名称：《The Application of Clinical Genetics》 | 2017年第-1期
- mitochondrial diseases therapy MNGIE;
47.Clinical utility of nitisinone for the treatment of hereditary tyrosinemia type-1 (HT-1)

机译：尼替尼酮在治疗1型遗传性酪氨酸血症（HT-1）中的临床应用
- 作者：Anibh Martin Das
- 期刊名称：《The Application of Clinical Genetics》 | 2017年第-1期
- diet hepatocellular carcinoma hepatorenal tyrosinemia nitisinone newborn screening succinylacetone;
48.Treating EGFR mutation resistance in non-small cell lung cancer – role of osimertinib

机译：在非小细胞肺癌中治疗EGFR突变耐药性–奥西替尼的作用
- 作者：Valentina Mazza;Federico Cappuzzo
- 期刊名称：《The Application of Clinical Genetics》 | 2017年第-1期
- EGFR-mutant non-small-cell Lung cancer acquired resistance T790M mutation third generation EGFR-TKI osimertinib;
49.Maple syrup urine disease: mechanisms and management

机译：枫糖浆尿病：机理与治疗
- 作者：Patrick R Blackburn;Jennifer M Gass;Filippo Pinto e Vairo;Kristen M Farnham;Herjot K Atwal;Sarah Macklin;Eric W Klee;Paldeep S Atwal
- 期刊名称：《The Application of Clinical Genetics》 | 2017年第-1期
- maple syrup urine disease BCKDHA BCKDHB DBT newborn screening alloisoleucine branched-chain amino acids;
50.Primary ciliary dyskinesia: mechanisms and management

机译：原发性睫状运动障碍：机制和管理
- 作者：Nadirah Damseh;Nada Quercia;Nisreen Rumman;Sharon D Dell;Raymond H Kim
- 期刊名称：《The Application of Clinical Genetics》 | 2017年第-1期
- genetic testing Kartagener’s syndrome primary ciliary dyskinesia;
51.RAI1 gene mutations: mechanisms of Smith–Magenis syndrome

机译：RAI1基因突变：史密斯– Magenis综合征的机制
- 作者：Mariateresa Falco;Sonia Amabile;Fabio Acquaviva
- 期刊名称：《The Application of Clinical Genetics》 | 2017年第-1期
- 17p11.2 neurogenesis sleep disorders syndromic obesity craniofacial abnormalities;
52.IKBKAP/ELP1 gene mutations: mechanisms of familial dysautonomia and gene-targeting therapies

机译：IKBKAP / ELP1基因突变：家族性自主神经失调的机制和基因靶向疗法
- 作者：Berish Y Rubin;Sylvia L Anderson
- 期刊名称：《The Application of Clinical Genetics》 | 2017年第-1期
- HSAN splicing MAO tocotrienol EGCG Ashkenazi;
53.Mutation analysis of β-thalassemia in East-Western Indian population: a recent molecular approach

机译：印度东西部人口中β地中海贫血的突变分析：一种最新的分子方法
- 作者：Parth S Shah;Nidhi D Shah;Hari Shankar P Ray;Nikunj B Khatri;Ketan K Vaghasia;Rutvik J Raval;Sandip C Shah;Mandava V Rao
- 期刊名称：《The Application of Clinical Genetics》 | 2017年第-1期
- β-thalassemia traits coinheritance hematogram capillary electrophoresis PCR-ARMS DNA sequencing mutation analysis East-Western India;
54.Genotype and phenotype correlation in intracranial hemorrhage in neonatal factor VII deficiency among Thai children

机译：泰国儿童新生儿VII型因子缺乏症颅内出血的基因型和表型相关性
- 作者：Chanchai Traivaree;Chalinee Monsereenusorn;Arunotai Meekaewkunchorn;Premsak Laoyookhong;Saranya Suwansingh;Boonchai Boonyawat
- 期刊名称：《The Application of Clinical Genetics》 | 2017年第-1期
- mutation analysis factor VII deficiency Thai children;
55.Novel mutation of FKBP10 in a pediatric patient with osteogenesis imperfecta type XI identified by clinical exome sequencing

机译：通过临床外显子组测序鉴定了XI型成骨不全患儿的FKBP10新型突变
- 作者：Harvy Mauricio Velasco;Jessica L Morales
- 期刊名称：《The Application of Clinical Genetics》 | 2017年第-1期
- osteogenesis imperfecta type XI FKBP10 diagnostic odyssey;
56.Case report of individual with cutaneous immunodeficiency and novel 1p36 duplication

机译：皮肤免疫缺陷和新型1p36重复的个体病例报告
- 作者：Alyn D Hatter;David C Soler;Christine Curtis;Kevin D Cooper;Thomas S McCormick
- 期刊名称：《The Application of Clinical Genetics》 | 2016年第-1期
- immunodeficiency crusted scabies cutaneous immunodeficiency 1p36 duplication;
57.Candidate genes of idiopathic pulmonary fibrosis: current evidence and research

机译：特发性肺纤维化的候选基因：最新证据和研究
- 作者：Wei Zhou;Yaping Wang
- 期刊名称：《The Application of Clinical Genetics》 | 2016年第-1期
- idiopathic pulmonary fibrosis candidate genes susceptibility;
58.Non-invasive prenatal testing for fetal chromosome abnormalities: review of clinical and ethical issues

机译：胎儿染色体异常的非侵入性产前检测：临床和伦理问题回顾
- 作者：Jean Gekas;Sylvie Langlois;Vardit Ravitsky;François Audibert;David Gradus van den Berg;Hazar Haidar;François Rousseau
- 期刊名称：《The Application of Clinical Genetics》 | 2016年第-1期
- prenatal diagnosis Down syndrome non-invasive prenatal testing cell-free fetal DNA informed consent reproductive autonomy;
59.Emery–Dreifuss muscular dystrophy: a test case for precision medicine

机译：Emery–Dreifuss肌营养不良症：精密医学的测试用例
- 作者：De-Ann M Pillers;Nicholas H Von Bergen
- 期刊名称：《The Application of Clinical Genetics》 | 2016年第-1期
- emerin FHL1 lamins A/C nuclear envelope;
60.Genetics of Lafora progressive myoclonic epilepsy: current perspectives

机译：拉福拉进行性肌阵挛性癫痫的遗传学：当前观点。
- 作者：Miljana Kecmanović;Milica Keckarević-Marković;Dušan Keckarević;Galina Stevanović;Nebojša Jović;Stanka Romac
- 期刊名称：《The Application of Clinical Genetics》 | 2016年第-1期
- Lafora disease glycogen synthase treatment;
61.Marfan syndrome: current perspectives

机译：马凡综合症：当前观点
- 作者：Guglielmina Pepe;Betti Giusti;Elena Sticchi;Rosanna Abbate;Gian Franco Gensini;Stefano Nistri
- 期刊名称：《The Application of Clinical Genetics》 | 2016年第-1期
- Marfan syndrome thoracic aortic aneurysm fibrillin 1 cardiovascular manifestations diagnosis therapy;
62.Role of elosulfase alfa in mucopolysaccharidosis IVA

机译：硫磺酶α在黏多糖贮积症IVA中的作用
- 作者：Debra S Regier;Pranoot Tanpaiboon
- 期刊名称：《The Application of Clinical Genetics》 | 2016年第-1期
- mucopolysaccharidosis type IVA elosulfase alfa enzyme replacement therapy Morquio syndrome lysosomal storage disease keratan sulfate;
63.Alagille syndrome: clinical perspectives

机译：Alagille综合征：临床观点
- 作者：Maha Saleh;Binita M Kamath;David Chitayat
- 期刊名称：《The Application of Clinical Genetics》 | 2016年第-1期
- Alagille syndrome ALGS genetics liver;
64.Genetic basis of Cowden syndrome and its implications for clinical practice and risk management

机译：Cowden综合征的遗传基础及其对临床实践和风险管理的意义
- 作者：Amanda Gammon;Kory Jasperson;Marjan Champine
- 期刊名称：《The Application of Clinical Genetics》 | 2016年第-1期
- Cowden syndrome PTEN gene hereditary cancer genetic counseling;
65.Mevalonate kinase deficiency: current perspectives

机译：甲羟戊酸激酶缺乏症：当前观点
- 作者：Leslie A Favier;Grant S Schulert
- 期刊名称：《The Application of Clinical Genetics》 | 2016年第-1期
- mevalonic aciduria hyperimmunoglobulinemia D and periodic fever syndrome autoinflammatory periodic fever syndrome;
66.Animal models of GM2 gangliosidosis: utility and limitations

机译：GM2神经节病的动物模型：实用性和局限性
- 作者：Cheryl A Lawson;Douglas R Martin
- 期刊名称：《The Application of Clinical Genetics》 | 2016年第-1期
- GM2 gangliosidosis Tay–Sachs disease Sandhoff disease lysosomal storage disorder sphingolipidosis brain disease;
67.The genetics of uveal melanoma: current insights

机译：葡萄膜黑色素瘤的遗传学：最新见解
- 作者：Hildur Helgadottir;Veronica Höiom
- 期刊名称：《The Application of Clinical Genetics》 | 2016年第-1期
- uveal melanoma driver genes oncogenes tumor suppressor genes familial cancer;
68.Novel treatment options for lysosomal acid lipase deficiency: critical appraisal of sebelipase alfa

机译：溶酶体酸性脂肪酶缺乏症的新治疗选择：对sebelipase alfa的严格评估
- 作者：Kim Su;Emma Donaldson;Reena Sharma
- 期刊名称：《The Application of Clinical Genetics》 | 2016年第-1期
- sebelipase alfa LAL deficiency Wolman disease;
69.Advances in the management of erythropoietic protoporphyria – role of afamelanotide

机译：红细胞生成性原卟啉症治疗的进展-阿法美洛特的作用
- 作者：Ashley M Lane;Jerome T McKay;Herbert L Bonkovsky
- 期刊名称：《The Application of Clinical Genetics》 | 2016年第-1期
- afamelanotide eumelanin heme melanocyte stimulating hormone photosensitivity porphyria;
70.Analysis of the CFTR gene in Venezuelan cystic fibrosis patients identification of six novel cystic fibrosis-causing genetic variants

机译：委内瑞拉囊性纤维化患者CFTR基因分析鉴定六个引起囊性纤维化的新型遗传变异
- 作者：Karen Sánchez;Elizabeth de Mendonca;Xiorama Matute;Ismenia Chaustre;Marlene Villalón;Howard Takiff
- 期刊名称：《The Application of Clinical Genetics》 | 2016年第-1期
- c.49_50dupTT c.3963+1G.A p.Asp373Asn p.Glu815* p.Asn900Lys p.Trp277*;
71.Natural killer cells and single nucleotide polymorphisms of specific ion channels and receptor genes in myalgic encephalomyelitis/chronic fatigue syndrome

机译：肌性脑脊髓炎/慢性疲劳综合征的自然杀伤细胞和特定离子通道和受体基因的单核苷酸多态性
- 作者：Sonya Marshall-Gradisnik;Teilah Huth;Anu Chacko;Samantha Johnston;Pete Smith;Donald Staines
- 期刊名称：《The Application of Clinical Genetics》 | 2016年第-1期
- chronic fatigue syndrome myalgic encephalomyelitis transient receptor potential ion channels acetylcholine receptors genotypes;
72.Utilization of genetic testing among children with developmental disabilities in the United States

机译：在美国发育障碍儿童中进行基因检测
- 作者：Bridget Kiely;Sujit Vettam;Andrew Adesman
- 期刊名称：《The Application of Clinical Genetics》 | 2016年第-1期
- autism spectrum disorders intellectual disability developmental delay genetic screening;
73.Examining genotypic variation in autism spectrum disorder and its relationship to parental age and phenotype

机译：检查自闭症谱系障碍的基因型变异及其与父母年龄和表型的关系
- 作者：David A Geier;Janet K Kern;Lisa K Sykes;Mark R Geier
- 期刊名称：《The Application of Clinical Genetics》 | 2016年第-1期
- genotype phenotype autism spectrum disorder microarray advanced age gene pervasive developmental disorder parental age;
74.The association between vitamin D receptor gene polymorphisms (TaqI and FokI) Type 2 diabetes and micro-/macrovascular complications in postmenopausal women

机译：维生素D受体基因多态性（TaqI和FokI）2型糖尿病与绝经后妇女的微血管/微血管并发症之间的关系
- 作者：Juliana Maia;Andreia Soares da Silva;Rodrigo Feliciano do Carmo;Taciana Furtado de Mendonça;Luiz Henrique Maciel Griz;Patricia Moura;Francisco Bandeira
- 期刊名称：《The Application of Clinical Genetics》 | 2016年第-1期
- Type 2 diabetes VDR polymorphism vitamin D;
75.Identification of a novel pathogenic OTOF variant causative of nonsyndromic hearing loss with high frequency in the Ashkenazi Jewish population

机译：在阿什肯纳兹犹太人口中发现一种新的致病性OTOF变体引起非综合征性听力损失且发生频率高
- 作者：Anastasia M Fedick;Chaim Jalas;Ananya Swaroop;Eric E Smouha;Bryn D Webb
- 期刊名称：《The Application of Clinical Genetics》 | 2016年第-1期
- hearing loss OTOF c.5332GT p.Val1778Phe Ashkenazi Jewish otoferlin;
76.Analysis of binary responses with outcome-specific misclassification probability in genome-wide association studies

机译：在全基因组关联研究中分析具有结果特定误分类概率的二进制响应
- 作者：Romdhane Rekaya;Shannon Smith;El Hamidi Hay;Nourhene Farhat;Samuel E Aggrey
- 期刊名称：《The Application of Clinical Genetics》 | 2016年第-1期
- binary responses misclassification specificity sensitivity;
77.ROCK2 and MYLK variants and high-altitude pulmonary edema

机译：ROCK2和MYLK变异与高海拔肺水肿
- 作者：Gaurav Sikri;Srinivasa Bhattachar;Priyanka Pandey;Yogendra Singh;Ghulam Mohammad;MA Qadar Pasha
- 期刊名称：《The Application of Clinical Genetics》 | 2016年第-1期
78.Hemodialysis for hyperammonemia associated with ornithine transcarbamylase deficiency

机译：血液透析治疗鸟氨酸转氨甲酰酶缺乏症相关的高氨血症
- 作者：Jacob F Collen;Nealanjon P Das;Jonathan M Koff;Robert T Neff;Kevin C Abbott
- 期刊名称：《The Application of Clinical Genetics》 | 2008年第-1期
- ornithine transcarbamylase deficiency (OTC) hemodialysis hyperammonemia urea cycle ammonul;
79.Greig cephalopolysyndactyly (GCPS) contiguous gene syndrome in a boy with a 14 Mb deletion in region 7p13-14 caused by a paternal balanced insertion (5; 7)

机译：一名男婴因父亲平衡插入而在7p13-14区域中缺失14 Mb的男孩中的Greig头多发性突触（GCPS）连续基因综合征（5; 7）
- 作者：Solveig Schulz;Marianne Volleth;Petra Muschke;Ilse Wieland;Peter Wieacker
- 期刊名称：《The Application of Clinical Genetics》 | 2008年第-1期
- chromosome deletion Greig syndrome mental retardation microdeletion;
80.A comparison of the genetic and clinical profile of men that respond and do not respond to the immediate antihypertensive effects of aerobic exercise

机译：有氧运动对立即降压作用有反应和无反应的男性的遗传和临床特征比较
- 作者：Linda S Pescatello;Bruce E Blanchard;Gregory J Tsongalis;Ann A O’Connell;Heather Gordish-Dressman;Carl M Maresh;Paul D Thompson
- 期刊名称：《The Application of Clinical Genetics》 | 2008年第-1期
- blood pressure genetics hypertension metabolic syndrome physical activity;
81.Genomic-based tools for the risk assessment management and prevention of type 2 diabetes

机译：基于基因组的工具用于2型糖尿病的风险评估管理和预防
- 作者：Katherine A Johansen Taber;Barry D Dickinson
- 期刊名称：《The Application of Clinical Genetics》 | 2015年第-1期
- diabetes genomic risk prediction management;
82.The genetics of Ménière’s disease

机译：梅尼埃病的遗传学
- 作者：Giuseppe Chiarella;C Petrolo;E Cassandro
- 期刊名称：《The Application of Clinical Genetics》 | 2015年第-1期
- Mènière’s disease gene vertigo etiology pathogenesis;
83.Tay-Sachs disease: current perspectives from Australia

机译：Tay-Sachs病：澳大利亚当前的观点
- 作者：Raelia M Lew;Leslie Burnett;Anné L Proos;Martin B Delatycki
- 期刊名称：《The Application of Clinical Genetics》 | 2015年第-1期
- Tay-Sachs disease genetic screening Australia;
84.The genetics of familial hypercholesterolemia and emerging therapies

机译：家族性高胆固醇血症的遗传学和新兴疗法
- 作者：Anja Vogt
- 期刊名称：《The Application of Clinical Genetics》 | 2015年第-1期
- familial hypercholesterolemia LDL cholesterol atherosclerosis genetics new therapies mipomersen;
85.Progressive osseous heteroplasia: diagnosis treatment and prognosis

机译：进行性骨异型增生：诊断治疗和预后
- 作者：Robert J Pignolo;Girish Ramaswamy;John T Fong;Eileen M Shore;Frederick S Kaplan
- 期刊名称：《The Application of Clinical Genetics》 | 2015年第-1期
- progressive osseous heteroplasia GNAS heterotopic ossification;
86.Moyamoya disease and syndromes: from genetics to clinical management

机译：烟雾病和综合症：从遗传学到临床管理
- 作者：Stéphanie Guey;Elisabeth Tournier-Lasserve;Dominique Hervé;Manoelle Kossorotoff
- 期刊名称：《The Application of Clinical Genetics》 | 2015年第-1期
- moyamoya disease moyamoya syndrome stroke surgical revascularization genetics;
87.Emerging pharmacologic treatment options for fragile X syndrome

机译：脆性X综合征的新兴药物治疗选择
- 作者：Tori L Schaefer;Matthew H Davenport;Craig A Erickson
- 期刊名称：《The Application of Clinical Genetics》 | 2015年第-1期
- anxiety intellectual disability autism clinical trial fragile X syndrome;
88.The genetic basis of familial adenomatous polyposis and its implications for clinical practice and risk management

机译：家族性腺瘤性息肉病的遗传基础及其对临床实践和风险管理的意义
- 作者：Maria Liz Leoz;Sabela Carballal;Leticia Moreira;Teresa Ocaña;Francesc Balaguer
- 期刊名称：《The Application of Clinical Genetics》 | 2015年第-1期
- colorectal cancer familial adenomatous polyposis MAP APC MUTYH;
89.The genetic landscape of X-linked adrenoleukodystrophy: inheritance mutations modifier genes and diagnosis

机译：X联肾上腺白质营养不良的遗传景观：遗传突变修饰基因和诊断
- 作者：Christoph Wiesinger;Florian S Eichler;Johannes Berger
- 期刊名称：《The Application of Clinical Genetics》 | 2015年第-1期
- X-ALD AMN mutations incidence prenatal diagnosis newborn screening;
90.22q11 deletion syndrome: current perspective

机译：22q11缺失综合征：当前观点
- 作者：Bülent Hacıhamdioğlu;Duygu Hacıhamdioğlu;Kenan Delil
- 期刊名称：《The Application of Clinical Genetics》 | 2015年第-1期
- DiGeorge syndrome velocardiofacial syndrome TBX1;
91.Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome

机译：修订后的根特诊断马凡氏综合征标准的观点
- 作者：Yskert von Kodolitsch;Julie De Backer;Helke Schüler;Peter Bannas;Cyrus Behzadi;Alexander M Bernhardt;Mathias Hillebrand;Bettina Fuisting;Sara Sheikhzadeh;Meike Rybczynski;Tilo Kölbel;Klaus Püschel;Stefan Blankenberg;Peter N Robinson
- 期刊名称：《The Application of Clinical Genetics》 | 2015年第-1期
- Marfan syndrome Ghent nosology diagnosis FBN1 mutation aorta;
92.Recent advances in gene therapy for lysosomal storage disorders

机译：溶酶体贮积症基因治疗的最新进展
- 作者：David PW Rastall;Andrea Amalfitano
- 期刊名称：《The Application of Clinical Genetics》 | 2015年第-1期
- human trials clinical trials gene therapy lysosomal storage disease blood-brain barrier adeno-associated virus lentivirus adenovirus;
93.Alström syndrome: current perspectives

机译：Alström综合征：当前观点
- 作者：María Álvarez-Satta;Sheila Castro-Sánchez;Diana Valverde
- 期刊名称：《The Application of Clinical Genetics》 | 2015年第-1期
- Alström syndrome ciliopathies ALMS1 gene ALMS1 protein molecular diagnosis;
94.Pulmonary capillary hemangiomatosis: a focus on the EIF2AK4 mutation in onset and pathogenesis

机译：肺毛细血管血管瘤：发病和发病机制中的EIF2AK4突变为重点
- 作者：Lijiang Ma;Ruijun Bao
- 期刊名称：《The Application of Clinical Genetics》 | 2015年第-1期
- EIF2AK4 genetics pulmonary arterial hypertension pulmonary veno-occlusive disease;
95.1p36 deletion syndrome: an update

机译：1p36缺失综合征：更新
- 作者：Valerie K Jordan;Hitisha P Zaveri;Daryl A Scott
- 期刊名称：《The Application of Clinical Genetics》 | 2015年第-1期
- chromosome 1p36 chromosome deletion 1p36 deletion syndrome monosomy 1p36;
96.An update of clinical management of acute intermittent porphyria

机译：急性间歇性卟啉症临床治疗的最新进展
- 作者：Elena Pischik;Raili Kauppinen
- 期刊名称：《The Application of Clinical Genetics》 | 2015年第-1期
- porphyria acute intermittent porphyria neuropathy treatment heme;
97.Genetics of inherited primary arrhythmia disorders

机译：遗传性原发性心律不齐疾病的遗传学
- 作者：Danna A Spears;Michael H Gollob
- 期刊名称：《The Application of Clinical Genetics》 | 2015年第-1期
- long QT syndrome catecholaminergic polymorphic ventricular tachycardia Brugada syndrome short QT syndrome genetics;
98.The genetics of Charcot–Marie–Tooth disease: current trends and future implications for diagnosis and management

机译：Charcot–Marie–Tooth疾病的遗传学：诊断和治疗的当前趋势和未来意义
- 作者：J Chad Hoyle;Michael C Isfort;Jennifer Roggenbuck;W David Arnold
- 期刊名称：《The Application of Clinical Genetics》 | 2015年第-1期
- Charcot-Marie-Tooth disease next-generation sequencing neurogenetic testing nerve conduction studies neuropathy;
99.Diagnostic and treatment strategies in mucopolysaccharidosis VI

机译：粘多糖贮积症VI的诊断和治疗策略
- 作者：Filippo Vairo;Andressa Federhen;Guilherme Baldo;Mariluce Riegel;Maira Burin;Sandra Leistner-Segal;Roberto Giugliani
- 期刊名称：《The Application of Clinical Genetics》 | 2015年第-1期
- mucopolysaccharidosis VI Maroteaux–Lamy syndrome dermatan sulfate arylsulfatase b enzyme replacement therapy lysosomal storage diseases;
100.Sanfilippo syndrome: causes consequences and treatments

机译：Sanfilippo综合征：原因后果和治疗
- 作者：Anthony O Fedele
- 期刊名称：《The Application of Clinical Genetics》 | 2015年第-1期
- lysosomal storage disease Sanfilippo syndrome mucopolysaccharidosis III;