熊符｜南方医科大学｜学者主页

2026

一例GPAA1基因复合杂合突变导致糖基磷脂酰肌醇生物合成缺陷15型的诊断和基因检测分析

钟为军，陈亚军，刘佳楠，熊符，钟蕊

《遗传》

DOI

2026

A De Novo Mutation (c.2423A>G) in SAMD9 Causing MIRAGE Syndrome With Intrauterine Growth Retardation and Renal Hypoplasia in a Chinese Family

Yuxin Huang, Jiahui Fu, Zhongzhi Gan, Fu Xiong, Honglei Zhu, Fang Yang

Human Mutation

DOI

2026

Integrating imaging and genomics in prenatal Treacher Collins syndrome: evidence for practice and policy

Chunling Li, Wei Huang, Zhongzhi Gan, Yin-Jie Ling, Liyan Qiu, Yuan-Ling Xiao, Fu Xiong, Fang Yang

Orphanet Journal of Rare Diseases

DOI

2026

STXBP1 Variants Associated With Epilepsy With Variable Severity

Meng Xu, Xuan Guo, Zhi‐kui Wang, Qi Zhi Clayton Yang, Ting‐Ting Ye, Jie Xu, Wei‐Wen Deng, Min‐Zhi Zhuang, Yi‐Wu Shi, Fu Xiong, Xiao‐Rong Liu, For the China Epilepsy Gene 1.0 Project

CNS Neuroscience & Therapeutics

DOI

2026

The PHEX deletion variant (p.Thr605MetfsTer14) causes X-linked hypophosphatemic rickets by reducing protein expression and promoting mineralization

Zhongzhi Gan, Meiyu Zheng, Chenzhao Guo, Fei He, Yingchun Zheng, Jiayi Li, Chen Li, Fang Yang, Qingfang Song, Qingxian Chang, Qian Liu, Fu Xiong, Hairui Xie

Orphanet Journal of Rare Diseases

DOI

2025

Mendelian randomization facilitates identification of schizophrenia risk enhancer RNAs

Linyan Ye, Chaoying Ni, Renhao Chen, Siyao Che, Fu Xiong, Cunyou Zhao, Zhongju Wang

Molecular Psychiatry

DOI

2025

CCDC47基因c.634C>T突变导致毛发-肝脏-神经发育综合征的功能研究

钟为军，刘佳楠，熊符，何菲

《分子影像学杂志》

2025

Application value of long-read sequencing in full characterization of thalassemia-associated structural variations: identifying a novel large segmental duplication and literature review

Zeyan Zhong, G. Zheng, Dina Zhu, Yongqiong Liu, Zezhang Lin, Zhiyang Guan, Fu Xiong, Jian-Hong Chen, Xuan Shang

Orphanet Journal of Rare Diseases

DOI

2025

Identification of an IL17RC missense variant in a Chinese family with multiple osteochondromas and ankylosing spondylitis

Yingchun Zheng, Xue‐Wu Wei, Zhongzhi Gan, Mingming Zhang, Zongrui Shen, Shunfei Ma, Yihao Huang, Fei He, Jian Wang, Fu Xiong

Journal of Human Genetics

DOI

2025

Case Report: A novel germline donor splicing site mutation of RB1 gene in a Chinese Tibetan pedigree with familial retinoblastoma

Guoqian He, Yingchun Zheng, Lin-jun Tan, Cheng-qi Shen, Ju Gao, Fu Xiong, Xia Nan Guo

Frontiers in Oncology

DOI

2025

Novel compound heterozygous variants in TGM1 with the lethal neonatal collodion baby and autosomal recessive congenital ichthyosis

Yuhua Pan, Huiyong Xu, Ming Zeng, Guanxia Liang, Fei He, Zihan Yang, Fu Xiong, Xingsheng Dong

Archives of Dermatological Research

DOI

2025

A missense variant in the SOX5 gene (c.221C > T) is associated with intellectual disability

Xiujuan Yang, Xiujuan Yang, Zhongzhi Gan, Xiaoling Guo, Xiang Huang, Juan Liu, Yingchun Zheng, Xiaoqiang Zhou, Jingli Lian, Yue Liu, Tingting Yang, Chao Li, Fei He, Fei He, Xiangmin Xu, Yasi Zhou, Qian Liu, Xingkun Yang, Xingkun Yang, Fu Xiong

Orphanet Journal of Rare Diseases

DOI

2025

A novel phex gene variant causes non-syndromic tooth agenesis

Yuhua Pan, Bingqiang Hua, He Wang, Shenglong Tan, Ting Lu, Fu Xiong, Dandan Ma

BMC Oral Health

DOI

2024

Loss-of-function SLC25A20 variant causes carnitine-acylcarnitine translocase deficiency by reducing SLC25A20 protein stability

Zhongzhi Gan, Xiaofeng Wei, Yingchun Zheng, Qiqi Zheng, Shushu Fan, Fu Xiong

Gene

DOI

2024

Second transplantation after kidney graft loss in primary hyperoxaluria type 2: a pedigree study and mutation analysis

Yushi Peng, Yingchun Zheng, Fu Xiong, Mingming Zhang, Yuchen Wang, Jia Luo, Wenli Zeng, Jialiang Hui, Wenfeng Deng, Jian Xu, Yun Miao, Renfei Xia, Yiling Fang

Renal Failure

DOI

2024

SNPscan Combined With CNVplex as a High‐Performance Diagnostic Method for Thalassemia

Xiaofeng Wei, Xingmin Wang, Fu Xiong, Xinhua Zhang, Dun Liu, Wanjun Zhou, Fei He, Xuan Shang

Prenatal Diagnosis

DOI

2024

Four novel mutations identified in the COL4A3, COL4A4 and COL4A5 genes in 10 families with Alport syndrome

Duocai Wang, Meize Pan, Hang Li, Minchun Li, Ping Li, Fu Xiong, Hongbo Xiao

BMC Medical Genomics

DOI

2024

Impact of genomic and epigenomic alterations of multigene on a multicancer pedigree

Jinyu Gao, Yongzhang Wu, Jieming Yu, Yinbin Qiu, Tiantian Yi, Chaochao Luo, Junxiao Zhang, Gary G. Lu, Xu Li, Fu Xiong, Xuedong Wu, Xinghua Pan

Cancer Medicine

DOI

2024

Identification of a novel nonsense mutation in α-galactosidase A that causes Fabry disease in a Chinese family

Yushi Peng, Meize Pan, Yuchen Wang, Zongrui Shen, Jian Xu, Fu Xiong, Hongbo Xiao, Yun Miao

Renal Failure

DOI

2024

Corrigendum to “A large deletion in TSC2 causes tuberous sclerosis complex by dysregulating PI3K_AKT_mTOR signaling pathway” [GENE909 (2024) 148312/D-23-04187]

Jiahui Fu, Peili Liang, Yingchun Zheng, Cailing Xu, Fu Xiong, Fang Yang

Gene

DOI

2024

A large deletion in TSC2 causes tuberous sclerosis complex by dysregulating PI3K/AKT/mTOR signaling pathway

Jiahui Fu, Peili Liang, Yingchun Zheng, Cailing Xu, Fu Xiong, Fang Yang

Gene

DOI

2023

Molecular spectrum and prevalence of thalassemia investigated by third-generation sequencing in the Dongguan region of Guangdong Province, Southern China.

Jiwu Lou, Man-Na Sun, Aiping Mao, Yinyin Liu, Ying Zhao, You-Qing Fu, Yunshi Dai, Fu Xiong, Dong-Zhi Li, Juyan Zhang, Ti-Zhen Yan, Yanhui Liu

Clinica chimica acta; international journal of clinical chemistry

DOI

2023

Plasma-derived exosomal miRNA profiles reveal potential epigenetic pathogenesis of premature ovarian failure

Jiaqiong Lin, Zhihong Wu, Yingchun Zheng, Zongrui Shen, Zhongzhi Gan, Shunfei Ma, Yanhui Liu, Fu Xiong

Human Genetics

DOI

2023

Intravenous Administration of an AAV9 Vector Ubiquitously Expressing C1orf194 Gene Improved CMT-Like Neuropathy in C1orf194-/- Mice

Zongrui Shen, Meiyi Li, Fei He, Cheng Huang, Yingchun Zheng, Zhikui Wang, Shunfei Ma, Li Chen, Zhengshan Liu, Hui Zheng, Fu Xiong

Neurotherapeutics

DOI

2023

Double heterozygous pathogenic mutations in KIF3C and ZNF513 cause hereditary gingival fibromatosis

Jianfan Chen, Xueqing Xu, Song Chen, Ting Lu, Yingchun Zheng, Zhongzhi Gan, Zongrui Shen, Shunfei Ma, Duocai Wang, Leyi Su, Fei He, Xuan Shang, Huiyong Xu, Dong Chen, Leitao Zhang, Fu Xiong

International Journal of Oral Science

DOI

2023

A novel gain‐of‐function PIP4K2A mutation elevates the expression of β‐globin and aggravates the severity of α‐thalassemia

Yanxia Zhang, Hongting Xie, Guanxia Liang, Yunrong Qin, Xiaofeng Wei, Sisi Ning, Yi Li Liang, Xiongda Liang, Yuling Xie, Zezhang Lin, Dina Zhu, Jiaqiong Lin, Fu Xiong, Xiangming Xu, Xuan Shang

British Journal of Haematology

DOI

2023

The loss of function GBA1 c.231C > G mutation associated with Parkinson disease

Dejie Chen, Yingchun Zheng, Guilian Zhang, Yuanbing Huang, Boyang Zheng, Jian Zhang, Fu Xiong, Quanxi Su

Journal of Neural Transmission

DOI

2023

A novel single‐base deletion of the RUNX Family Transcription Factor 2 gene associated with cleidocranial dysplasia

Yuhua Pan, Wanyu Lu, Weidong Meng, Wenxiao Liao, Aiqin Hu, Buling Wu, Fu Xiong

European Journal Of Oral Sciences

DOI

2023

A novel APC mutation associated with Gardner syndrome in a Chinese family

Ming Zeng, Xinchen Yao, Yuhua Pan, Hongxiang Gu, Fu Xiong, Xuemin Yin, Buling Wu, Ting Chen

Gene

DOI

2023

The molecular mechanism of Gaucher disease caused by compound heterozygous mutations in GBA1 gene

Qi Liu, Zongrui Shen, Hong Pan, Shunfei Ma, Fu Xiong, Fei He

Frontiers in Pediatrics

DOI

2022

A single-center analysis of genotype–phenotype characteristics of Chinese patients with autosomal dominant polycystic kidney disease by targeted exome sequencing

Ziyan Yan, Yuchen Wang, Wenfeng Deng, Yi Zhou, Yangcheng Hu, Ka Qi, Ding Liu, Renfei Xia, Rumin Liu, Wenli Zeng, Wei Zhang, Jian Xu, Fu Xiong, Yun Miao

Frontiers in Genetics

DOI

2022

Identification of a novel missense heterozygous mutation in the KDF1 gene for non-syndromic congenital anodontia

Yuhua Pan, Sheng Yi, Dong Chen, Xinya Du, Xinchen Yao, Fei He, Fu Xiong

Clinical Oral Investigations

DOI

2022

A Heterozygous LMF1 Gene Mutation (c.1523C>T), Combined With an LPL Gene Mutation (c.590G>A), Aggravates the Clinical Symptoms in Hypertriglyceridemia

Danxia Guo, Yingchun Zheng, Zhongzhi Gan, Yingying Guo, Sijie Jiang, Fang Yang, Fu Xiong, Hua Zheng

Frontiers in Genetics

DOI

2022

A Novel Mutation in ATRX Causes Alpha-Thalassemia X-Linked Intellectual Disability Syndrome in a Han Chinese Family

Shao‐Min Wu, Yingchun Zheng, Cailing Xu, Jia Fu, Fu Xiong, Fang Yang

Frontiers in Pediatrics

DOI

2022

[Analysis of PKD1 gene mutation in a pedigree affected with autosomal dominant polycystic kidney disease].

D N Chen, Gui‐Yu Liu, Z N Zhu, Fu Xiong, B S Zhang

PubMed

DOI

2021

颅骨锁骨发育不全RUNX2基因错义突变1例

潘育桦，谢远雯，王贺，熊符，吴补领

《临床口腔医学杂志》

2021

Familial Translocation t(2;4) (q37.3;p16.3), Resulting in a Partial Trisomy of 2q (or 4p) and a Partial Monosomy of 4p (or 2q), Causes Dysplasia

Jian Wang, Shiyuan Zhou, Fei He, Xuelian Zhang, Jianqi Lu, Jian Zhang, Feng Zhang, Xiangmin Xu, Fang Yang, Fu Xiong

Frontiers in Genetics

DOI

2021

Case Report: A Novel Compound Heterozygous Mutation of the FRMD4A Gene Identified in a Chinese Family With Global Developmental Delay, Intellectual Disability, and Ataxia

Yuhua Pan, Xiaoling Guo, Xiaoqiang Zhou, Yue Liu, Jingli Lian, Tingting Yang, Xiang Huang, Fei He, Jian Zhang, Buling Wu, Fu Xiong, Xingkun Yang

Frontiers in Pediatrics

DOI

2021

Functional Analysis of Ectodysplasin-A Mutations in X-Linked Nonsyndromic Hypodontia and Possible Involvement of X-Chromosome Inactivation

Yuhua Pan, Ting Lu, Ling Peng, Qi Zeng, Xiangyu Huang, Xinchen Yao, Buling Wu, Fu Xiong

Stem Cells International

DOI

2021

Case Report: A Novel COL1A1 Missense Mutation Associated With Dentineogenesis Imperfecta Type I

Yuting Zeng, Yuhua Pan, Jiayao Mo, Zhiting Ling, Lifang Jiang, Fu Xiong, Wenjuan Yan

Frontiers in Genetics

DOI

2021

Infant death from glutaric aciduria type IIc

Qi Miao, Jianfan Chen, Yan-Lin Zhang, Sihao Du, Zhang Fu, Yan‐Geng Yu, Fu Xiong, Dong‐Ri Li

Forensic Science International Reports

DOI

2021

APC c.4621C>T variant causing Gardner's syndrome in a Han Chinese family may be inherited through maternal mosaicism

Decheng Cai, Fei He, Xiangmin Xu, Fu Xiong, Leitao Zhang

Experimental and Therapeutic Medicine

DOI

2021

A rare case of monozygotic triplets with Duchenne muscular dystrophy

Liang Wang, Jinfu Lin, Fu Xiong, Yingyin Liang, Huan Li, Ziyu Liao, Cheng Zhang

Neuromuscular Disorders

DOI

2021

A female carrier of a novel DMD mutation with slightly skewed X-chromosome inactivation shows a suspected case of Becker muscular dystrophy in a Chinese family

Jianfan Chen, Hui Zheng, Zhongju Wang, Jian Wang, Fei He, Cheng Zhang, Fu Xiong

Molecular Genetics and Genomics

DOI

2021

Heterogeneity of cell composition and origin identified by single-cell transcriptomics in renal cysts of patients with autosomal dominant polycystic kidney disease

Qiong Li, Yuchen Wang, Wen-feng Deng, Yanna Liu, Jian Geng, Ziyan Yan, Fei Li, Binshen Chen, Zhuolin Li, Renfei Xia, Wenli Zeng, Rumin Liu, Jian Xu, Fu Xiong, Chin‐Lee Wu, Yun Miao

Theranostics

DOI

2020

The Potential Significance of ABO Genotyping for Donor Selection in Kidney Transplantation

Yi Zhou, Yuchen Wang, Haiqiang Ni, Wen-feng Deng, Ding Liu, Jian Xu, Naiqian Cui, Yihan Wu, Shaojie Fu, Lulu Xiao, Hailiang Liu, Ka Qi, Shaoqing Wang, Fu Xiong, Yun Miao

Frontiers in Immunology

DOI

2020

A compound heterozygous mutation of the alkaline phosphatase ALPL gene causes hypophosphatasia in a Han Chinese family

Huajie Huang, Jian Wang, Yingyin Liang, Xiaofeng Wei, Dan Guo, Hengbiao Sun, Xuelian Zhang, Xiangmin Xu, Fu Xiong

Experimental and Therapeutic Medicine

DOI

2020

C1orf194 deficiency leads to incomplete early embryonic lethality and dominant intermediate Charcot–Marie–Tooth disease in a knockout mouse model

Cheng Huang, Zong Rui Shen, Jin Huang, Shun Chang Sun, Di Ma, Mei Yi Li, Zhi Kui Wang, Ying Zheng, Zhuo Jun Zheng, Fei He, Xiaoyuan Xu, Xiaoyuan Xu, Ziang Li, Bo Yang Zheng, Yue Mao Li, Xiang Min Xu, Xiang Min Xu, Fu Xiong

Human Molecular Genetics

DOI

2020

OEIS complex (omphalocele-exstrophy-imperforate anus-spinal defects) in monozygotic twins: a case report and literature review

Y. Q. Xu, X. L. Chen, Sheng Zhao, P. W. Chen, X. M. Yin, S. Y. Xiong, Zhixiang Ding, Fu Xiong, X. H. Yang

Clinical and Experimental Obstetrics & Gynecology

DOI

2019

染色体10q24.31片段重复导致先天性缺指/缺趾畸形的一个家系致病机理分析

张秀泉，王建，熊符，吕伟标，周远青，杨少民，张玉婷，田小燕，连蔚，徐湘民

《遗传》

DOI

2018

不同基因型轻型β-地中海贫血患者血液学特征

裴元元，冉健，丛潇怡，商璇，熊符，杜丽，魏凤香

《实用医学杂志》

2018

Two successive cases of fetal harlequin ichthyosis: A case report

Qianhong Liang, Fu Xiong, Xuankun Liang, Dongming Zheng, Shuguang Su, Yunjie Wen, Xiaodan Wang

Experimental and Therapeutic Medicine

DOI

2018

Non-invasive prenatal detection for copy number variation

Y.H. Liu, Li-hua Gao, Yihua He, Wanyang Xie, Fu Xiong, Hui Jiang, F. Chen, J.H. Qu, Huiping Huang, WeiChen Xu, Yifan Lin, Rungui Xie, J.W. Lou, Hui Jiang

Clinical and Experimental Obstetrics & Gynecology

DOI

2017

中国南方单纯性先天性心脏病患者NKX2.5基因突变的研究

李倩，熊符，李承彬

《中国优生与遗传杂志》

2017

Genetic diagnosis of polycystic kidney disease, Alport syndrome, and thalassemia minor in a large Chinese family

Yun Miao, Jun Xiong, Xuelian Zhang, Huajie Huang, Lixin Yu, Jianfan Chen, Wenfeng Deng, Hui-Ling Xu, Rumin Liu, Chenglin Xiang, Xiangmin Xu, Fu Xiong

Clinical Science

DOI

2017

Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies

Xuan Shang, Zhiyu Peng, Yuhua Ye, Asan, Xinhua Zhang, Yan Chen, Baosheng Zhu, Wangwei Cai, Shaoke Chen, Ren Cai, Xiaoling Guo, Chonglin Zhang, Yuqiu Zhou, Shuodan Huang, Yanhui Liu, Biyan Chen, Shanhuo Yan, Yajun Chen, Hongmei Ding, Xiaolin Yin, Liu-Song Wu, Jing He, Dehao Huang, sheng tao he, Tizhen Yan, Xin Fan, Yuehong Zhou, Xiaofeng Wei, Sumin Zhao, Decheng Cai, Fengyu Guo, Qianqian Zhang, Yun Li, Xuelian Zhang, Haorong Lu, Huajie Huang, Junfu Guo, Fei Zhu, Yuan Yuan, Li Zhang, Na Liu, Zhiming Li, Hui Jiang, Qiang Zhang, Yijia Zhang, Wan Khairunnisa Wan Juhari, Sarifah Hanafi, Wanjun Zhou, Fu Xiong, Huanming Yang, jian Zi Wang, Bin Alwi Zilfalil, Ming Qi, Yaping Yang, Ye Yin, Mao Mao, Xiangmin Xu

EBioMedicine

DOI

2017

A novel, complex RUNX2 gene mutation causes cleidocranial dysplasia

Wenan Xu, Qiuyue Chen, Cuixian Liu, Jiajing Chen, Fu Xiong, WU Bu-ling

BMC Medical Genetics

DOI

2016

染色体微阵列分析在产前诊断中的应用

刘翠娴，熊符

《妇产与遗传(电子版)》

2016

Mutation inSSUH2Causes Autosomal-Dominant Dentin Dysplasia Type I

Fu Xiong, Zhisong Ji, Yanhui Liu, Yu Zhang, Lingling Hu, Qi Yang, Qinwei Qiu, Lingfeng Zhao, Dong Chen, Zhihui Tian, Xuan Shang, Leitao Zhang, Xiaofeng Wei, Cuixian Liu, Qiuxia Yu, Meichao Zhang, Jing Cheng, Jun Xiong, Dong‐Ri Li, Xiuhua Wu, Huijun Yuan, Wenqing Zhang, Xiangmin Xu

Human Mutation

DOI

2016

A splicing mutation in VPS4B causes dentin dysplasia I

Qi Yang, Dong Chen, Fu Xiong, Danna Chen, Cuixian Liu, Yanhui Liu, Qiuxia Yu, Jun Xiong, Jinzhong Liu, Kunyang Li, Lingfeng Zhao, Yuhua Ye, Hong Wei Zhou, Lingling Hu, Zhihui Tian, Xuan Shang, Leitao Zhang, Xiaofeng Wei, Wanjun Zhou, Dong‐Ri Li, Wenqing Zhang, Xiangmin Xu

Journal of Medical Genetics

DOI

2015

A Double Heterozygous Mutation of TNNI3 Causes Hypertrophic Cardiomyopathy in a Han Chinese Family

Hua Zheng, Huajie Huang, Zhisong Ji, Qi Yang, Qiuxia Yu, Fan Shen, Cuixian Liu, Fu Xiong

Cardiology

DOI

2015

Compound heterozygosity for KLF1 mutations is associated with microcytic hypochromic anemia and increased fetal hemoglobin

Jiwei Huang, Xinhua Zhang, Dun Liu, Xiaofeng Wei, Xuan Shang, Fu Xiong, Lihua Yu, Xiaolin Yin, Xiangmin Xu

European Journal of Human Genetics

DOI

2014

Novel loss-of-function PRRT2mutation causes paroxysmal kinesigenic dyskinesia in a Han Chinese family

Zhisong Ji, Quanxi Su, Lingling Hu, Qi Yang, Cuixian Liu, Jun Xiong, Fu Xiong

BMC Neurology

DOI

2014

DNA hypermethylation and X chromosome inactivation are major determinants of phenotypic variation in women heterozygous for G6PD mutations

Jin Wang, Qizhi Xiao, Youming Chen, Sheng Yi, Dun Liu, Yan‐Hui Liu, Cui-Mei Zhang, Xiaofeng Wei, Yu-Qiu Zhou, Xingming Zhong, Cunyou Zhao, Fu Xiong, Wei Xiang-cai, Xiangmin Xu

Blood Cells Molecules and Diseases

DOI

2013

Micro-dsytrophin基因修饰的骨髓间充质干细胞移植后mdx鼠膈肌病理改变

王淑辉，尚延昌，于美娟，张雅妮，冯善伟，熊符，张成

《临床和实验医学杂志》

2013

A Multiplex qPCR Gene Dosage Assay for Rapid Genotyping and Large-Scale Population Screening for Deletional α-Thalassemia

Wanjun Zhou, Ge Wang, Xue-feng Zhao, Fu Xiong, Shaoxiong Zhou, Jianming Peng, Youming Cheng, Shun Xu, Xiangmin Xu

Journal of Molecular Diagnostics

DOI

2013

A novel fusion gene and a common α0-thalassemia deletion cause hemoglobin H disease in a Chinese family

Ji-Wei Huang, Xuan Shang, Ying Zhao, Ren Cai, Xinhua Zhang, Xiaofeng Wei, Fu Xiong, Xiangmin Xu

Blood Cells Molecules and Diseases

DOI

2012

[Analysis of hematological characteristics on the 79 co-inheritance of α-thalassemia and β-thalassemia carriers in Guangxi].

Fu Xiong, Jiwu Lou, Xiaofeng Wei, Manna Sun, Ji-wei Huang, Xuan Shang, Xinhua Zhang, Xiangmin Xu

PubMed

2012

Analyses of GATA4, NKX2.5, and TFAP2B genes in subjects from southern China with sporadic congenital heart disease

Fu Xiong, Qian Li, Cuimei Zhang, Youming Chen, Ping Li, Xiaofeng Wei, Qiang Li, Wanjun Zhou, Liang Li, Xuan Shang, Xiangmin Xu

Cardiovascular Pathology

DOI

2012

A new partial trisomy 12p with artery catheter vagus, congenital cataracts, external auditory canal, and no turbinate

Yan‐Hui Liu, Run-gui Xie, Xiao-yan Zhang, Shun-di Wei, Yi He, Wang-fang Xu, Yang-yang Lin, Fu Xiong

Gene

DOI

2012

Rapid determination of human globin chains using reversed-phase high-performance liquid chromatography

Junhui Wan, Pei-Ling Tian, Weihao Luo, Bingyi Wu, Fu Xiong, Wanjun Zhou, Xiangcai Wei, Xiangmin Xu

Journal of Chromatography B

DOI

2011

面肩肱型肌营养不良实时荧光定量PCR诊断方法的影响因素分析

苏全喜，李婉仪，张成，熊符，洪铭范，刘爱群，田素娟

《解放军医学院学报》

2011

New mechanisms in the molecular pathology of human glucose-6-phosphate dehydrogenase deficiency

Lijia Zhang, Fu Xiong

Int J Genet

DOI

2011

Reliable Detection of Paternal SNPs within Deletion Breakpoints for Non-Invasive Prenatal Exclusion of Homozygous α0-Thalassemia in Maternal Plasma

Tizhen Yan, Qiuhua Mo, Ren Cai, Xue Chen, Cui-Mei Zhang, Yan‐Hui Liu, Yajun Chen, Wanjun Zhou, Fu Xiong, Xiangmin Xu

PLoS ONE

DOI

2011

Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation

Li-Hua Wang, Yeqing Huang, Xuan Shang, Quanxi Su, Fu Xiong, Qing-Yun Yu, Hui‐Ping Lin, Zhisheng Wei, Mingfan Hong, Xiangmin Xu

Journal of Human Genetics

DOI

2011

A Melting Curve Analysis–Based PCR Assay for One-Step Genotyping of β-Thalassemia Mutations

Fu Xiong, Qiuying Huang, Xiaoyun Chen, Yuqiu Zhou, Xinhua Zhang, Ren Cai, Yajun Chen, Jiansheng Xie, Shan-wei Feng, Xiaofeng Wei, Qizhi Xiao, Tianlang Zhang, Shiqiang Luo, Xue-huang Yang, Ying Hao, Yanxia Qu, Qingge Li, Xiangmin Xu

Journal of Molecular Diagnostics

DOI

2010

Micro-dystrophin基因修饰的MSCs在mdx小鼠体内分化为肌卫星细胞的研究

于美娟，张雅妮，冯善伟，王淑辉，熊符，张成

《新医学》

2010

经micro-dystrophin基因修饰后的自体骨髓间充质干细胞移植治疗mdx鼠的实验研究

于美娟，张雅妮，冯善伟，王淑辉，熊符，张成

《临床医学工程》

2010

转基因修饰后的自体骨髓间充质干细胞移植治疗mdx鼠后成肌调节因子的表达研究

于美娟，张雅妮，冯善伟，王淑辉，熊符，张成

《热带医学杂志》

2010

面肩肱型肌营养不良症的分子遗传学研究进展

张玮，熊符，苏全喜

《临床荟萃》

2010

成肌性标志物在人骨髓间充质干细胞分化为肌细胞过程中的表达

柳太云，代宏，林军，李玫，熊符，冯善伟，张亚妮，张成

《中国医学科学院学报》

2010

[Analysis of the phenotype-genotype relationship of Hb Constant Spring].

Manna Sun, Fu Xiong, Xinhua Zhang, Jiwu Lou, Xiangmin Xu

PubMed

DOI

2010

Microdystrophin Delivery in Dystrophin-Deficient (mdx) Mice by Genetically-Corrected Syngeneic MSCs Transplantation

Fu Xiong, Yong Feng Xu, H. Zheng, Xiaohan Lu, Shuhao Feng, Yanchang Shang, Y. Li, Yujie Zhang, Shi Jin, Chenhao Zhang

Transplantation Proceedings

DOI

2010

Compound heterozygosity for a rare small deletion and a common point mutation in the beta‐globin gene: report of two Chinese families

Xuan Shang, Zhaoying Rao, Jiwu Lou, Wenjun Li, Fu Xiong, H. P. ZHOU, Xiangmin Xu

International Journal of Laboratory Hematology

DOI

2010

Analysis of α-hemoglobin-stabilizing protein (AHSP) gene as a genetic modifier to the phenotype of β-thalassemia in Southern China

Zhipeng Wang, Yu Wenfang, Ying Li, Xuan Shang, Xinhua Zhang, Fu Xiong, Xiangmin Xu

Blood Cells Molecules and Diseases

DOI

2010

Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population

Zhu Sheng-Yuan, Fu Xiong, Yajun Chen, Tizhen Yan, Jian Zeng, Liang Li, Yani Zhang, Wanqun Chen, Xinhua Bao, Cheng Zhang, Xiangmin Xu

European Journal of Human Genetics

DOI

2010

Molecular epidemiological survey of haemoglobinopathies in the Guangxi Zhuang Autonomous Region of southern China

Fu Xiong, Manna Sun, X Zhang, Ren Cai, Yuqiu Zhou, Jiwu Lou, L Zeng, Q Sun, Q Xiao, Xuan Shang, Xiaofeng Wei, Tao-Ni Zhang, P Chen, Xiangmin Xu

Clinical Genetics

DOI

2010

The molecular basis of beta-thalassemia intermedia in southern China: genotypic heterogeneity and phenotypic diversity

Wanqun Chen, Xinhua Zhang, Xuan Shang, Ren Cai, Liyan Li, Tianhong Zhou, Manna Sun, Fu Xiong, Xiangmin Xu

BMC Medical Genetics

DOI

2010

Research progress on the virulence gene of simple congenital heart disease

Yun Zhu, Qian Li, Fu Xiong

Int J Genet

DOI

2009

小鼠骨髓间充质干细胞分离培养方法的建立

于美娟，张雅妮，冯善伟，熊符，张成

《解剖学研究》

2009

Construction of a recombinant plasmid expressing microdystrophin gene fused with HSV-1 VP22 and its biological characterization

Fu Xiong

Chinese Journal of Neuromedicine

DOI

2008

不同基因载体转导人骨髓间充质干细胞比较

刘正山，张成，尚延昌，熊符，冯善伟，李勇，许勇峰，周畅

《中国医学科学院学报》

2008

人单纯疱疹病毒1型VP22介导的microdystrophin重组腺病毒的构建及其蛋白转导特性

熊符，张成，郑卉，肖少波，潘永飞，许勇峰，刘正山，李勇

《中国医学科学院学报》

2008

杆状病毒转导不同哺乳动物骨髓来源间充质干细胞

刘正山，张成，卢锡林，李勇，许勇峰，熊符，冯善伟，李玲

《生理学报》

2008

[Construction of recombinant plasmid pVAX1-microdystrophin and preliminary study on the treatment to Duchenne muscular dystrophy].

Fu Xiong, Cheng Zhang, Hui Zheng, Shaobo Xiao, Mei-juan Yu, Yongfeng Xu, Zhengshan Liu, Chang Zhou

PubMed

2008

[Construction of herpes simplex virus-1 virion protein 22-mediated microdystrophin gene recombinant adenovirus and study on the property of protein transduction].

Fu Xiong, Cheng Zhang, Hui Zheng, Shaobo Xiao, Yong Fei Pan, Yong Feng Xu, Zheng Shan Liu, Yong Li

PubMed

2007

Microdystrophin基因重组腺病毒的构建及转染mdx骨髓间充质干细胞的表达

熊符，张成，肖少波，李美山，王淑辉，于美娟，尚延昌

《生物工程学报》

2006

人微小抗肌萎缩蛋白基因转染大鼠骨髓间充质干细胞及其基因表达

王淑辉，张成，陈松林，于美娟，张雅妮，李美山，熊符，尚延昌，冯善伟，申本昌

《南方医科大学学报》

2006

家族性肌萎缩侧索硬化症转基因鼠的繁殖和鉴定

黄慧，张成，席静，姚晓黎，邱国光，熊符

《南方医科大学学报》

2006

异体骨髓干细胞移植后假肥大型肌营养不良症模型鼠膈肌dystrophin表达及病理改变

张雅妮，张成，于美娟，王淑辉，李美山，黄慧，熊符，冯善伟，柳太云，卢锡林

《南方医科大学学报》

2006

绿色荧光蛋白和成肌调节因子在骨髓基质干细胞中的共表达

李美山，张成，陈松林，于美娟，张雅妮，王淑辉，熊符

《空军军医大学学报》

2006

蛋白转导在基因治疗中的应用

熊符，张成，于美娟

《国际生物医学工程杂志》

2006

干细胞移植治疗Duchenne型肌营养不良症的研究进展

郑卉，张成，熊符

《中华神经医学杂志》

精选作品

期刊论文

一例GPAA1基因复合杂合突变导致糖基磷脂酰肌醇生物合成缺陷15型的诊断和基因检测分析

A De Novo Mutation (c.2423A>G) in SAMD9 Causing MIRAGE Syndrome With Intrauterine Growth Retardation and Renal Hypoplasia in a Chinese Family

Integrating imaging and genomics in prenatal Treacher Collins syndrome: evidence for practice and policy

STXBP1 Variants Associated With Epilepsy With Variable Severity

The PHEX deletion variant (p.Thr605MetfsTer14) causes X-linked hypophosphatemic rickets by reducing protein expression and promoting mineralization

Mendelian randomization facilitates identification of schizophrenia risk enhancer RNAs

CCDC47基因c.634C>T突变导致毛发-肝脏-神经发育综合征的功能研究

Application value of long-read sequencing in full characterization of thalassemia-associated structural variations: identifying a novel large segmental duplication and literature review

Identification of an IL17RC missense variant in a Chinese family with multiple osteochondromas and ankylosing spondylitis

Case Report: A novel germline donor splicing site mutation of RB1 gene in a Chinese Tibetan pedigree with familial retinoblastoma

Novel compound heterozygous variants in TGM1 with the lethal neonatal collodion baby and autosomal recessive congenital ichthyosis

A missense variant in the SOX5 gene (c.221C > T) is associated with intellectual disability

A novel phex gene variant causes non-syndromic tooth agenesis

Loss-of-function SLC25A20 variant causes carnitine-acylcarnitine translocase deficiency by reducing SLC25A20 protein stability

Second transplantation after kidney graft loss in primary hyperoxaluria type 2: a pedigree study and mutation analysis

SNPscan Combined With CNVplex as a High‐Performance Diagnostic Method for Thalassemia

Four novel mutations identified in the COL4A3, COL4A4 and COL4A5 genes in 10 families with Alport syndrome

Impact of genomic and epigenomic alterations of multigene on a multicancer pedigree

Identification of a novel nonsense mutation in α-galactosidase A that causes Fabry disease in a Chinese family

Corrigendum to “A large deletion in TSC2 causes tuberous sclerosis complex by dysregulating PI3K_AKT_mTOR signaling pathway” [GENE909 (2024) 148312/D-23-04187]

A large deletion in TSC2 causes tuberous sclerosis complex by dysregulating PI3K/AKT/mTOR signaling pathway

Molecular spectrum and prevalence of thalassemia investigated by third-generation sequencing in the Dongguan region of Guangdong Province, Southern China.

Plasma-derived exosomal miRNA profiles reveal potential epigenetic pathogenesis of premature ovarian failure

Intravenous Administration of an AAV9 Vector Ubiquitously Expressing C1orf194 Gene Improved CMT-Like Neuropathy in C1orf194-/- Mice

Double heterozygous pathogenic mutations in KIF3C and ZNF513 cause hereditary gingival fibromatosis

A novel gain‐of‐function PIP4K2A mutation elevates the expression of β‐globin and aggravates the severity of α‐thalassemia

The loss of function GBA1 c.231C > G mutation associated with Parkinson disease

A novel single‐base deletion of the RUNX Family Transcription Factor 2 gene associated with cleidocranial dysplasia

A novel APC mutation associated with Gardner syndrome in a Chinese family

The molecular mechanism of Gaucher disease caused by compound heterozygous mutations in GBA1 gene

A single-center analysis of genotype–phenotype characteristics of Chinese patients with autosomal dominant polycystic kidney disease by targeted exome sequencing

Identification of a novel missense heterozygous mutation in the KDF1 gene for non-syndromic congenital anodontia

A Heterozygous LMF1 Gene Mutation (c.1523C>T), Combined With an LPL Gene Mutation (c.590G>A), Aggravates the Clinical Symptoms in Hypertriglyceridemia

A Novel Mutation in ATRX Causes Alpha-Thalassemia X-Linked Intellectual Disability Syndrome in a Han Chinese Family

[Analysis of PKD1 gene mutation in a pedigree affected with autosomal dominant polycystic kidney disease].

颅骨锁骨发育不全RUNX2基因错义突变1例

Familial Translocation t(2;4) (q37.3;p16.3), Resulting in a Partial Trisomy of 2q (or 4p) and a Partial Monosomy of 4p (or 2q), Causes Dysplasia

Case Report: A Novel Compound Heterozygous Mutation of the FRMD4A Gene Identified in a Chinese Family With Global Developmental Delay, Intellectual Disability, and Ataxia

Functional Analysis of Ectodysplasin-A Mutations in X-Linked Nonsyndromic Hypodontia and Possible Involvement of X-Chromosome Inactivation

Case Report: A Novel COL1A1 Missense Mutation Associated With Dentineogenesis Imperfecta Type I

Infant death from glutaric aciduria type IIc

APC c.4621C>T variant causing Gardner's syndrome in a Han Chinese family may be inherited through maternal mosaicism

A rare case of monozygotic triplets with Duchenne muscular dystrophy

A female carrier of a novel DMD mutation with slightly skewed X-chromosome inactivation shows a suspected case of Becker muscular dystrophy in a Chinese family

Heterogeneity of cell composition and origin identified by single-cell transcriptomics in renal cysts of patients with autosomal dominant polycystic kidney disease

The Potential Significance of ABO Genotyping for Donor Selection in Kidney Transplantation

A compound heterozygous mutation of the alkaline phosphatase ALPL gene causes hypophosphatasia in a Han Chinese family

C1orf194 deficiency leads to incomplete early embryonic lethality and dominant intermediate Charcot–Marie–Tooth disease in a knockout mouse model

OEIS complex (omphalocele-exstrophy-imperforate anus-spinal defects) in monozygotic twins: a case report and literature review

染色体10q24.31片段重复导致先天性缺指/缺趾畸形的一个家系致病机理分析

不同基因型轻型β-地中海贫血患者血液学特征

Two successive cases of fetal harlequin ichthyosis: A case report

Non-invasive prenatal detection for copy number variation

中国南方单纯性先天性心脏病患者NKX2.5基因突变的研究

Genetic diagnosis of polycystic kidney disease, Alport syndrome, and thalassemia minor in a large Chinese family

Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies

A novel, complex RUNX2 gene mutation causes cleidocranial dysplasia

染色体微阵列分析在产前诊断中的应用

Mutation inSSUH2Causes Autosomal-Dominant Dentin Dysplasia Type I

A splicing mutation in VPS4B causes dentin dysplasia I

A Double Heterozygous Mutation of TNNI3 Causes Hypertrophic Cardiomyopathy in a Han Chinese Family

Compound heterozygosity for KLF1 mutations is associated with microcytic hypochromic anemia and increased fetal hemoglobin

Novel loss-of-function PRRT2mutation causes paroxysmal kinesigenic dyskinesia in a Han Chinese family

DNA hypermethylation and X chromosome inactivation are major determinants of phenotypic variation in women heterozygous for G6PD mutations

Micro-dsytrophin基因修饰的骨髓间充质干细胞移植后mdx鼠膈肌病理改变

A Multiplex qPCR Gene Dosage Assay for Rapid Genotyping and Large-Scale Population Screening for Deletional α-Thalassemia

A novel fusion gene and a common α0-thalassemia deletion cause hemoglobin H disease in a Chinese family

[Analysis of hematological characteristics on the 79 co-inheritance of α-thalassemia and β-thalassemia carriers in Guangxi].

Analyses of GATA4, NKX2.5, and TFAP2B genes in subjects from southern China with sporadic congenital heart disease

A new partial trisomy 12p with artery catheter vagus, congenital cataracts, external auditory canal, and no turbinate

Rapid determination of human globin chains using reversed-phase high-performance liquid chromatography

面肩肱型肌营养不良实时荧光定量PCR诊断方法的影响因素分析

New mechanisms in the molecular pathology of human glucose-6-phosphate dehydrogenase deficiency

Reliable Detection of Paternal SNPs within Deletion Breakpoints for Non-Invasive Prenatal Exclusion of Homozygous α0-Thalassemia in Maternal Plasma

Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation

A Melting Curve Analysis–Based PCR Assay for One-Step Genotyping of β-Thalassemia Mutations

Micro-dystrophin基因修饰的MSCs在mdx小鼠体内分化为肌卫星细胞的研究

经micro-dystrophin基因修饰后的自体骨髓间充质干细胞移植治疗mdx鼠的实验研究