Associated Papers
Novel Haplotype-Based Noninvasive Prenatal Diagnosis for Recessive Single-Gene Disorders: A Proof-of-Concept Study.
Chen C et al.
Clinical Genetics, 2026
Spectrum of Factor VIII Gene Variants in 78 Patients with Hemophilia A in Guangxi Province, China, Including Nine Novel Variants: A Descriptive Study
Jiang J et al.
Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2025
Variant analysis of F8 in 123 patients with hemophilia A: Identification of 18 novel variants.
Teng Y et al.
Thrombosis Research, 2025
Deleterious variants cluster in the A3 domain of factor VIII in people with severe hemophilia A and inhibitors.
Zuccherato LW et al.
Research and Practice in Thrombosis and Haemostasis, 2025
Integrating Next-Generation Sequencing Into Routine Molecular Diagnosis of Inherited Coagulation Factor Deficiencies: Real-World Data From Spanish Patients.
Borràs N et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025
Noninversion Variants in Sporadic Hemophilia A Originate Mostly from Females.
Chen M et al.
International Journal of Molecular Sciences, 2025
De Novo Noninversion Variants Implicated in Sporadic Hemophilia A: A Variant Origin and Timing Study.
Chen M et al.
International Journal of Molecular Sciences, 2024
Mutation detection and inhibitor analysis of 43 children with severe hemophilia A in a single center: three novel mutations.
Yang C et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2024
Comprehensive Analysis of Hemophilia A (CAHEA): Towards Full Characterization of the F8 Gene Variants by Long-Read Sequencing.
Liu Y et al.
Thrombosis and Haemostasis, 2023
Determining common variants in patients with haemophilia A in South Vietnam and screening female carriers in their family members.
Nguyen BST et al.
Journal of Clinical Pathology, 2023
Variant spectrum of F8 and F9 in hemophilia patients from southern China and 26 novel variants.
Li F et al.
Frontiers in Genetics, 2023
A capillary electrophoresis-based multiplex PCR assay for expanded carrier screening in the eastern Han Chinese population.
Hu P et al.
Npj Genomic Medicine, 2022
Molecular study of a large cohort of 109 haemophilia patients from Cuba using a gene panel with next generation sequencing-based technology.
Borràs N et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2022
Prominent Mutation of Intron 22 Inversion in Sporadic Hemophilia: Is It Worth the Antenatal Screening?
Sasanakul W et al.
The Application of Clinical Genetics, 2022
The Spectrum of Pathogenic Variants in Iranian Families with Hemophilia A.
Azadmehr S et al.
Archives of Iranian Medicine, 2021
Genetic analysis of carrier status in female members of Japanese hemophilia families.
Shinozawa K et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
Clinical Implementation of Expanded Carrier Screening in Pregnant Women at Early Gestational Weeks: A Chinese Cohort Study.
Shi M et al.
Genes, 2021
Mutation analysis in the F8 gene in 485 families with haemophilia A and prenatal diagnosis in China.
Feng Y et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2021
Mutation detection and inhibitor risk in Iranian patients with Hemophilia A: Six novel mutations.
Nasirnejad Sola F et al.
Clinical Case Reports, 2020
Factor 8 Gene Mutation Spectrum of 270 Patients with Hemophilia A: Identification of 36 Novel Mutations
Atik T et al.
Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2020
Recurrent and novel disease-causing F8 variants in boys with severe haemophilia A in Poland.
Janczar S et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2019
Spectrum and origin of mutations in sporadic cases of haemophilia A in China.
Lu Y et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2018
Spectrum of Molecular Defects in 216 Chinese Families With Hemophilia A: Identification of Noninversion Mutation Hot Spots and 42 Novel Mutations.
Guo Z et al.
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2018
Identification of deep intronic individual variants in patients with hemophilia A by next-generation sequencing of the whole factor VIII gene.
Inaba H et al.
Research and Practice in Thrombosis and Haemostasis, 2017
Molecular diagnosis of haemophilia A in patients from Senegal.
Seck M et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2017
Genetic diagnosis in Hemophilia A from southern China: five novel mutations and one preimplantation genetic analysis.
Chen J et al.
International Journal of Laboratory Hematology, 2017
Detection of F8 mutations in carriers and patients with severe hemophilia A. Identification of a novel mutation.
López-Vásquez L et al.
Investigacion Clinica, 2016
F8 gene mutation profile in Indian hemophilia A patients: Identification of 23 novel mutations and factor VIII inhibitor risk association.
Pinto P et al.
Mutation Research, 2016
Factor VIII gene variants and inhibitor risk in African American hemophilia A patients.
Gunasekera D et al.
Blood, 2015
Novel recurrently mutated genes and a prognostic mutation signature in colorectal cancer.
Yu J et al.
Gut, 2015
Detection of new mutations and molecular pathology of mild and moderate haemophilia A patients from southern Brazil.
Rosset C et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2013
Spectrum of F8 gene mutations in haemophilia A patients from Slovenia.
Debeljak M et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2012
Computational and molecular approaches for predicting unreported causal missense mutations in Belgian patients with haemophilia A.
Lannoy N et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2012
Molecular diagnosis of haemophilia A at Centro Hospitalar de Coimbra in Portugal: study of 103 families--15 new mutations.
Silva Pinto C et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2012
Identification of factor VIII gene mutations in patients with severe haemophilia A in Venezuela: identification of seven novel mutations.
Albánez S et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2011
Influence of the type of F8 gene mutation on inhibitor development in a single centre cohort of severe haemophilia A patients.
Gouw SC et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2011
Spectrum of F8 gene mutations in haemophilia A patients from a region of Italy: identification of 23 new mutations.
Riccardi F et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2010
Mutation analysis of factor VIII in Korean patients with severe hemophilia A.
You CW et al.
International Journal of Hematology, 2010
Haemophilia A mutations in the UK: results of screening one-third of the population.
Green PM et al.
British Journal of Haematology, 2008
Severe and moderate hemophilia A: identification of 38 new genetic alterations.
Casaña P et al.
Haematologica, 2008
Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRM.
Lin SY et al.
Bmc Medical Genetics, 2008
Spectrum of molecular defects and mutation detection rate in patients with mild and moderate hemophilia A.
Bogdanova N et al.
Human Mutation, 2007
Somatic mosaicism in hemophilia A: a fairly common event.
Leuer M et al.
American Journal of Human Genetics, 2001
Lithuanian haemophilia A and B registry comprising phenotypic and genotypic data.
Ivaskevicius V et al.
British Journal of Haematology, 2001