Chao-xia Lu

发表

Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies

Shuyang Zhang, Xue Zhang, Wei Wu, 2018, Journal of Translational Medicine.

Gross deletions in FBN1 results in variable phenotypes of Marfan syndrome.

Wei Wu, Shuyang Zhang, Xue Zhang, 2017, Clinica chimica acta; international journal of clinical chemistry.

Whole-exome sequencing identifies a missense mutation in hnRNPA1 in a family with flail arm ALS

L. Cui, Qing Liu, Xue Zhang, 2016, Neurology.

Systemic sclerosis complicated by arrhythmogenic right ventricular cardiomyopathy in a Chinese middle-aged female

Wei Wu, Xue Zhang, Yongtai Liu, 2018 .

Identification of a novel loss-of-function C9orf72 splice site mutation in a patient with amyotrophic lateral sclerosis

Qing Liu, Rongrong Wang, L. Cui, 2016, Neurobiology of Aging.

Keratin 5-Cre-driven deletion of Ncstn in an acne inversa-like mouse model leads to a markedly increased IL-36a and Sprr2 expression

Xue Zhang, Rongrong Wang, Nuo Si, 2019, Frontiers of Medicine.

Mutation spectrum of Chinese patients with familial and sporadic amyotrophic lateral sclerosis

L. Cui, Qing Liu, Rongrong Wang, 2016, Journal of Neurology, Neurosurgery & Psychiatry.

Prevalence and Clinical Characteristics of Fabry Disease in Chinese Patients With Hypertrophic Cardiomyopathy.

Xian-liang Zhou, Ying Zhang, Yan Xiao, 2021, The American journal of the medical sciences.

Novel missense mutations of ABCB6 in two chinese families with dyschromatosis universalis hereditaria.

Jie Liu, D. Ma, Xue Zhang, 2014, Journal of dermatological science.

Restrictive Cardiomyopathy Resulting from a Troponin I Type 3 Mutation in a Chinese Family.

Wei Wu, Xue Zhang, M. Routledge, 2016, Chinese medical sciences journal = Chung-kuo i hsueh k'o hsueh tsa chih.

A Novel Splicing Mutation Identified in a Chinese Family with X-linked Alport Syndrome Using Targeted Next-Generation Sequencing.

C. Chen, Xue Zhang, Yang Luo, 2016, Genetic testing and molecular biomarkers.

Genetic screening of SCNN1B and SCNN1G genes in early-onset hypertensive patients helps to identify Liddle syndrome

F. Luo, Xian-liang Zhou, Xue Zhang, 2018, Clinical and experimental hypertension.

Truncated Epithelial Sodium Channel β Subunit Responsible for Liddle Syndrome in a Chinese Family

F. Luo, Xian-liang Zhou, Xue Zhang, 2019, Kidney and Blood Pressure Research.

Novel Phenotype–Genotype Correlations of Restrictive Cardiomyopathy With Myosin-Binding Protein C (MYBPC3) Gene Mutations Tested by Next-Generation Sequencing

Shuyang Zhang, Xue Zhang, Wei Wu, 2015, Journal of the American Heart Association.

RNF213 as the major susceptibility gene for Chinese patients with moyamoya disease and its clinical relevance.

Lanbing Yu, Xue Zhang, Qian Zhang, 2017, Journal of neurosurgery.

RNF 213 as the major susceptibility gene for Chinese patients with moyamoya disease and its clinical relevance

Lanbing Yu, Xue Zhang, Qian Zhang, 2022 .

Copy-number mutations on chromosome 17q24.2-q24.3 in congenital generalized hypertrichosis terminalis with or without gingival hyperplasia.

Miao Sun, Xin Li, Lin He, 2009, American journal of human genetics.

A novel phenotype with splicing mutation identified in a Chinese family with desminopathy

K. Dou, Xue Zhang, Ya-xin Liu, 2019, Chinese medical journal.

A novel PRKAG2 mutation in a Chinese family with cardiac hypertrophy and ventricular pre-excitation

Xue Zhang, Yankun Yang, Ya-xin Liu, 2017, Scientific Reports.

Application of next-generation sequencing to screen for pathogenic mutations in 123 unrelated Chinese patients with Marfan syndrome or a related disease

Shuyang Zhang, Xue Zhang, Wei Wu, 2019, Science China Life Sciences.

Multiple SNPs Detection Based on Lateral Flow Assay for Phenylketonuria Diagnostic.

Chao Zhang, Kai Hua, Kewu Liu, 2018, Analytical chemistry.

Genotypic and phenotypic characterization of Chinese patients with osteogenesis imperfecta

Yiyang Wu, Chendan Jiang, Jinsong Gao, 2019, Human mutation.

Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations

Miao Sun, Wei Wang, Chao-xia Lu, 2016, Journal of Human Genetics.

An unclassified viariant in the fibrillin-1 gene leading to exon skipping in a patient with Marfan syndrome: the use of minigene assay in splicing analysis.

Xue Zhang, Yan Xiao, Chao-xia Lu, 2015, Clinica chimica acta; international journal of clinical chemistry.

Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract

Xue Zhang, Yang Luo, Lihua Cao, 2018, Orphanet Journal of Rare Diseases.

Neglected Mendelian causes of stroke in adult Chinese patients who had an ischaemic stroke or transient ischaemic attack

Hao Li, Wanlin Zhu, B. Mitchell, 2023, Stroke and vascular neurology.

A novel frameshift mutation of epithelial sodium channel β‐subunit leads to Liddle syndrome in an isolated case

Xue Zhang, Xiong-jing Jiang, Yan Xiao, 2015, Clinical endocrinology.

Liddle syndrome misdiagnosed as primary aldosteronism resulting from a novel frameshift mutation of SCNN1B

F. Luo, Xue Zhang, Jun Cai, 2018, Endocrine connections.

Genetic Analysis and Follow-Up of 25 Neonatal Diabetes Mellitus Patients in China

Zhan Qi, Di Wu, C. Gong, 2015, Journal of diabetes research.

Next generation sequencing as a rapid molecular diagnosis for Marfan syndrome in a Chinese family with mutations in the fibrillin-1 gene.

Xue Zhang, Yan Xiao, Yankun Yang, 2015, Clinica chimica acta; international journal of clinical chemistry.

Gross deletions in FBN1 results in variable phenotypes of Marfan syndrome.

Wei Wu, Shuyang Zhang, Xue Zhang, 2017, Clinica chimica acta; international journal of clinical chemistry.

Novel missense mutations of ABCB6 in two chinese families with dyschromatosis universalis hereditaria.

Jie Liu, D. Ma, Yaping Liu, 2014, Journal of dermatological science.