相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。A New Approach for Identification of Clinically Significant DNA Variants in α-Thalassemia and β-Thalassemia Carriers
Liangpu Xu et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2020)
Molecular Basis and Genetic Modifiers of Thalassemia
Sachith Mettananda et al.
HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA (2018)
Prenatal and preimplantation diagnosis of hemoglobinopathies
C. Vrettou et al.
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY (2018)
Preconception carrier screening and prenatal diagnosis in thalassemia and hemoglobinopathies: challenges and future perspectives
Joanne Traeger-Synodinos et al.
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS (2017)
Next-generation sequencing improves thalassemia carrier screening among premarital adults in a high prevalence population: the Dai nationality, China
Jing He et al.
GENETICS IN MEDICINE (2017)
Design, Validation, and Clinical Implementation of a Gap-Polymerase Chain Reaction Method for -Thalassemia Genotyping Using Capillary Electrophoresis
Basma Basha et al.
HEMOGLOBIN (2017)
Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies
Xuan Shang et al.
EBIOMEDICINE (2017)
The prevalence of thalassemia in mainland China: evidence from epidemiological surveys
Ketong Lai et al.
SCIENTIFIC REPORTS (2017)
Thalassaemia screening and confirmation of carriers in parents
Angela N. Barrett et al.
BEST PRACTICE & RESEARCH CLINICAL OBSTETRICS & GYNAECOLOGY (2017)
Update in the genetics of thalassemia: What clinicians need to know
Xuan Shang et al.
BEST PRACTICE & RESEARCH CLINICAL OBSTETRICS & GYNAECOLOGY (2017)
Laboratory diagnosis of thalassemia
V. Brancaleoni et al.
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY (2016)
The molecular spectrum and distribution of haemoglobinopathies in Cyprus: a 20-year retrospective study
Petros Kountouris et al.
SCIENTIFIC REPORTS (2016)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Iron-Deficiency Anemia
Clara Camaschella
NEW ENGLAND JOURNAL OF MEDICINE (2015)
State of the art and new developments in molecular diagnostics for hemoglobinopathies in multiethnic societies
C. L. Harteveld
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY (2014)
Updates of the HbVar database of human hemoglobin variants and thalassemia mutations
Belinda Giardine et al.
NUCLEIC ACIDS RESEARCH (2014)
IthaGenes: An Interactive Database for Haemoglobin Variations and Epidemiology
Petros Kountouris et al.
PLOS ONE (2014)
Molecular characterization and clinical presentation of HKαα and anti-HKαα alleles in southern Chinese subjects
X. Shang et al.
CLINICAL GENETICS (2013)
The Prevention of Thalassemia
Antonio Cao et al.
COLD SPRING HARBOR PERSPECTIVES IN MEDICINE (2013)
Development and evaluation of a reverse dot blot assay for the simultaneous detection of common alpha and beta thalassemia in Chinese
Min Lin et al.
BLOOD CELLS MOLECULES AND DISEASES (2012)
World Distribution, Population Genetics, and Health Burden of the Hemoglobinopathies
Thomas N. Williams et al.
COLD SPRING HARBOR PERSPECTIVES IN MEDICINE (2012)
Molecular epidemiological survey of haemoglobinopathies in the Guangxi Zhuang Autonomous Region of southern China
F. Xiong et al.
CLINICAL GENETICS (2010)
Carrier screening for Beta-thalassaemia: a review of international practice
Nicole E. Cousens et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2010)
Unusual rearrangement of the α-globin gene cluster containing both the -α3.7 and αααanti-4.2 crossover junctions:: Clinical diagnostic implications and possible mechanisms
W Wang et al.
CLINICAL CHEMISTRY (2005)
Single-tube multiplex-PCR screen for anti-3.7 and anti-4.2 α-globin gene triplications
W Wang et al.
CLINICAL CHEMISTRY (2003)