Tizhen Yan

发表

Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal muscular atrophy and unrelated healthy controls

Ping Fang, Liang Li, Jian Zeng, 2015, BMC Musculoskeletal Disorders.

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

Liang Li, Jian Zeng, Tizhen Yan, 2010, European Journal of Human Genetics.

Rapid and Reliable Detection of Nonsyndromic Hearing Loss Mutations by Multicolor Melting Curve Analysis

Tizhen Yan, Yinghua Liu, Qingge Li, 2017, Scientific Reports.

Systematic assessment of the performance of whole-genome amplification for SNP/CNV detection and β-thalassemia genotyping

Wanjun Zhou, Tizhen Yan, Xiangmin Xu, 2018, Journal of Human Genetics.

Erythroid Krüppel-like factor mutations are relatively more common in a thalassemia endemic region and ameliorate the clinical and hematological severity of β-thalassemia

Tizhen Yan, Li Lin, N. Mohandas, 2014 .

KLF1 mutations are relatively more common in a thalassemia endemic region and ameliorate the severity of β-thalassemia.

Tizhen Yan, Li Lin, N. Mohandas, 2014, Blood.

RED CELLS , IRON , AND ERYTHROPOIESIS KLF 1 mutations are relatively more common in a thalassemia endemic region and ameliorate the severity of b-thalassemia

Tizhen Yan, Li Lin, N. Mohandas, 2014 .

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

Wanjun Zhou, Tizhen Yan, Xiang-min Xu, 2011, PloS one.

A natural DNMT1 mutation elevates the fetal hemoglobin via epigenetic de-repression of γ-globin gene in β-thalassemia.

Tizhen Yan, Wenxia Yu, Yuhua Ye, 2020, Blood.

WDR62 variants contribute to congenital heart disease by inhibiting cardiomyocyte proliferation

Tizhen Yan, M. Qian, Jin Zhang, 2022, Clinical and translational medicine.

Analysis of complex chromosomal rearrangements using a combination of current molecular cytogenetic techniques

Tizhen Yan, N. Tang, Chuanchun Yang, 2022, Molecular cytogenetics.

MALDI-TOF-MS for Rapid Screening and Typing of β-Globin Variant and β-Thalassemia through Direct Measurements of Intact Globin Chains.

Tizhen Yan, S. Zou, Yan Li, 2022, Clinical chemistry.

Detection of four rare thalassemia variants using Single-molecule realtime sequencing

Tizhen Yan, Jiaqi Li, Dingyuan Zeng, 2022, Frontiers in Genetics.

Analysis of Hb levels and degree of anemia in relation to genotype in 615 patients with hemoglobin H disease

Tizhen Yan, N. Tang, Xingyuan Chen, 2020, Expert review of hematology.

Characterization of two novel Alu element-mediated α-globin gene cluster deletions causing α0-thalassemia by targeted next-generation sequencing

Wanjun Zhou, Tizhen Yan, Yuhua Ye, 2020, Molecular Genetics and Genomics.

Analysis of rare thalassemia caused by HS-40 regulatory site deletion

Tizhen Yan, Dejian Yuan, N. Tang, 2020, Hematology.

A Novel Multi-Exon Deletion of PACS1 in a Three-Generation Pedigree: Supplements to PACS1 Neurodevelopmental Disorder Spectrum

Fake Li, Tizhen Yan, Yan Zhang, 2021, Frontiers in Genetics.

Evaluation and comparison of three assays for molecular detection of spinal muscular atrophy

Liang Li, Jian Zeng, Wanjun Zhou, 2017, Clinical chemistry and laboratory medicine.

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

Asan, Huanming Yang, Jian Wang, 2017, EBioMedicine.

The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype–genotype correlation

Tizhen Yan, Aiping Mao, Dingyuan Zeng, 2021, Journal of Human Genetics.

Copy number variations in the GATA4, NKX2‐5, TBX5, BMP4 CRELD1, and 22q11.2 gene regions in Chinese children with sporadic congenital heart disease

Tizhen Yan, Dingyuan Zeng, R. Cai, 2018, Journal of clinical laboratory analysis.

Diagnosis and Prenatal Diagnosis in a Chinese Family Carrying the Rare α-Thalassemia Gene HBA2: c.1A>G Mutation

Tizhen Yan, R. Cai, Dejian Yuan, 2020, Hemoglobin.

Concurrent Newborn Hearing and Genetic Screening in a Multi-Ethnic Population in South China

Tizhen Yan, Xiangrong Tang, Jianping Chen, 2021, Frontiers in Pediatrics.

Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese Population

Tizhen Yan, R. Cai, Dejian Yuan, 2021, Frontiers in Genetics.

[Pancytopenia and metabolic decompensation in a neonate].

Tizhen Yan, R. Cai, Ji-wei Huang, 2016, Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics.

Evidence of recent natural selection on the Southeast Asian deletion (--SEA) causing α-thalassemia in South China

Ya-ping Zhang, Tizhen Yan, Xiang-min Xu, 2013, BMC Evolutionary Biology.

[Clinical and cytogenetic study in a child with de novo chromosome 9 abnormality].

Tizhen Yan, R. Cai, Dejian Yuan, 2018, Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics.

[An analysis of clinical characteristics and gene mutation in two patients with medium- and short-chain acyl-CoA dehydrogenase deficiency].

Tizhen Yan, R. Cai, Ji-wei Huang, 2016, Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics.

Rapid detection of non-deletional mutations causing α-thalassemia by multicolor melting curve analysis

Tizhen Yan, Qingge Li, Qiuying Huang, 2016, Clinical chemistry and laboratory medicine.

Simultaneous Genotyping of a-Thalassemia Deletional and Nondeletional Mutations by

Tizhen Yan, Qingge Li, Qiuying Huang, 2017 .

[Genetic diagnosis of 10 neonates with primary carnitine deficiency].

Tizhen Yan, R. Cai, Ji-wei Huang, 2017, Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics.

Analysis of a family with mitochondrial trifunctional protein deficiency caused by HADHA gene mutations

Tizhen Yan, R. Cai, Dejian Yuan, 2021, Molecular medicine reports.

Identification and Functional Characterization of a Novel Nonsense Variant in ARR3 in a Southern Chinese Family With High Myopia

Tizhen Yan, Taobo Hu, V. Zhang, 2021, Frontiers in Genetics.

Characterization of two novel Alu element-mediated α-globin gene cluster deletions causing α0-thalassemia by targeted next-generation sequencing

Wanjun Zhou, Tizhen Yan, Yuhua Ye, 2020, Molecular Genetics and Genomics.

Incidence and complete molecular characterization of glucose-6-phosphate dehydrogenase deficiency in the Guangxi Zhuang autonomous region of southern China: description of four novel mutations.

Tizhen Yan, F. Huang, R. Cai, 2006, Haematologica.

Rapid detection of G6PD mutations by multicolor melting curve analysis.

Tizhen Yan, Qingge Li, Zhongmin Xia, 2016, Molecular genetics and metabolism.

Pedigree Analysis of Nonhomologous Sequence Recombination of HBA1 and HBA2 Genes

Tizhen Yan, R. Cai, Xingyuan Chen, 2020, Hemoglobin.

Simultaneous Genotyping of α-Thalassemia Deletional and Nondeletional Mutations by Real-Time PCR-Based Multicolor Melting Curve Analysis.

Tizhen Yan, Qingge Li, Qiuying Huang, 2017, The Journal of molecular diagnostics : JMD.