Xiang-min Xu

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.

A novel fusion gene and a common α(0)-thalassemia deletion cause hemoglobin H disease in a Chinese family.

Xiang-min Xu, X. Shang, R. Cai, 2013, Blood cells, molecules & diseases.

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

Xiang-min Xu, F. Xiong, Xiang-cai Wei, 2014, Blood cells, molecules & diseases.

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

Xiang-min Xu, Shun-chang Sun, Fei He, 2020, Human molecular genetics.

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.

SYBR Green-based real-time PCR assay for detection of VKORC1 and CYP2C9 polymorphisms that modulate warfarin dose requirement

Liang Li, Xiang-min Xu, Sheng-Wen Huang, 2009, Clinical chemistry and laboratory medicine.

A Novel Hemoglobin Variant Hb Liaobu [α107(G14)Val→Leu, HBA2: c.322G>C] Detected by Matrix-Assisted Laser Desorption Ionization-Time-of-Flight Mass Spectrometry

Xiang-min Xu, Yuhua Ye, X. Shang, 2021, Hemoglobin.

Development of a capillary zone electrophoresis method for rapid determination of human globin chains in α and β-thalassemia subjects.

Wanjun Zhou, Li Lin, Xiang-min Xu, 2015, Blood cells, molecules & diseases.

Rapid genotyping of known mutations and polymorphisms in beta-globin gene based on the DHPLC profile patterns of homoduplexes and heteroduplexes.

Liang Li, Wanjun Zhou, Xiang-min Xu, 2008, Clinical biochemistry.

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.

Validation of VKORC1 and CYP2C9 genotypes on interindividual warfarin maintenance dose: a prospective study in Chinese patients

Xiang-min Xu, Sheng-Wen Huang, Ding-li Xu, 2009, Pharmacogenetics and genomics.

Rapid, accurate genotyping of alcohol dehydrogenase-1B and aldehyde dehydrogenase-2 based on the use of denaturing HPLC

Liang Li, Xiang-min Xu, Q. Mo, 2005, Clinical chemistry and laboratory medicine.

Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease.

J. Li, B. Tang, Wanjun Zhou, 2019, Brain : a journal of neurology.

[Prenatal diagnosis for thalassemias].

Xiang-min Xu, Yanbin Yu, 2012, Zhonghua fu chan ke za zhi.

Evaluation of clinical application of gap-PCR as a routine method for alpha-thalassemia carrier detection.

Xiang-min Xu, Q. Mo, Yu-Qiu Zhou, 2002, Di 1 jun yi da xue xue bao = Academic journal of the first medical college of PLA.

Identification of the Linkage of a 1.357 KB β-Globin Gene Deletion and A γ-Globin Gene Triplication in a Chinese Family

Xiang-min Xu, Ji-wei Huang, Qian Li, 2010, Hemoglobin.

Molecular characterization of a novel 27.6-kb deletion causing α+ thalassemia in a Chinese family

Xiang-min Xu, X. Shang, Xin-hua Zhang, 2010, Annals of Hematology.

Molecular characterization and PCR detection of a deletional HPFH: Application to rapid prenatal diagnosis for compound heterozygotes of this defect with β‐thalassemia in a Chinese family

Xiang-min Xu, Q. Mo, Yong-zhong Zhao, 2000, American journal of hematology.

A novel amber mutation in a β°‐thalassaemia gene (β37TGG→TAG), with direct detection by mapping the restriction fragments in amplified genomic DNA

Xiang-min Xu, C. Liao, Jian Li, 1995 .

Evidence of Gene Conversion in the Evolutionary Process of the Codon 41/42 (-CTTT) Mutation Causing β-Thalassemia in Southern China

Liang Li, Wei Yan, Yun-Xin Fu, 2008, Journal of Molecular Evolution.

Carrier screening for α‐ and β‐thalassemia in pregnancy: the results of an 11‐year prospective program in Guangzhou Maternal and Neonatal hospital

Xiang-min Xu, C. Liao, Jian Li, 2005 .

Carrier screening for alpha- and beta-thalassemia in pregnancy: the results of an 11-year prospective program in Guangzhou Maternal and Neonatal hospital.

Xiang-min Xu, C. Liao, Jian Li, 2005, Prenatal diagnosis.

Rapid, accurate detection of TMPRSS6 gene causative mutations with a high-resolution melting assay.

Liang Li, Wanjun Zhou, Xiang-min Xu, 2011, Blood cells, molecules & diseases.

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.

A novel mutation of −73(A→T) in the CCAAT box of the β-globin gene identified in a patient with the mild β-thalassemia intermedia

Xiang-min Xu, Qiang Li, Q. Mo, 2007, Annals of Hematology.

A novel mutation of -73(A-->T) in the CCAAT box of the beta-globin gene identified in a patient with the mild beta-thalassemia intermedia.

Xiang-min Xu, Qiang Li, Q. Mo, 2007, Annals of hematology.

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

Xiang-min Xu, Hui Lin, X. Shang, 2011, Journal of Human Genetics.

Phylogeographic analysis of mitochondrial DNA haplogroup F2 in China reveals T12338C in the initiation codon of the ND5 gene not to be pathogenic

Q. Kong, Ya-ping Zhang, Yong-Gang Yao, 2004, Journal of Human Genetics.

Rapid simultaneous genotyping of polymorphisms in ADH1B and ALDH2 using high resolution melting assay

Liang Li, Wanjun Zhou, Xiang-min Xu, 2013, Clinical chemistry and laboratory medicine.

A novel COL7A1 gene mutation causing pretibial epidermolysis bullosa: report of a Chinese family with intra-familial phenotypical diversity.

Xiang-min Xu, X. Shang, Yan-hui Liu, 2013, Gene.

Rapid, accurate genotyping of β‐thalassaemia mutations using a novel multiplex primer extension/denaturing high‐performance liquid chromatography assay

Xiang-min Xu, Grant Wu, Jim J. Zhu, 2003, British journal of haematology.

Validation of VKORC1 and CYP2C9 genotypes on interindividual warfarin maintenance dose: a prospective study in Chinese patients

Xiang-min Xu, Sheng-Wen Huang, Ding-li Xu, 2009, Pharmacogenetics and genomics.

Reliable and high-throughput mutation screening for beta-thalassemia by a single-base extension/fluorescence polarization assay.

Xiang-min Xu, Q. Mo, Li-yan Li, 2004, Genetic testing.