Associated Papers
Hereditary Spherocytosis due to an SPTA1 Nonsense Mutation Coinherited With α spectrinLELY in Trans.
Molina-Arrebola MA et al.
American Journal of Hematology, 2025
Advances on the genetic basis of red cell membrane disorders.
Risinger M et al.
Current Opinion in Hematology, 2025
Loss of Function SPTA1 Variants Causes Neonatal Liver Failure and Fetal Anemia.
Brewin J et al.
American Journal of Hematology, 2025
Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.
Kuras M et al.
Cancers, 2025
Two Variants of the ANK1 Gene Associated with Hereditary Spherocytosis.
Bogusławska DM et al.
Biomedicines, 2025
Hemoglobin Balkh, a Novel Mutation in Codon 132 of α2-Globin Gene [α132(H15) (+T) or HBA2:C.396dup (p.Val134fs)]: A Case Report and Insight into the Pathophysiology.
Tavassoli S et al.
Hemoglobin, 2024
Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.
Vanni I et al.
Journal of Translational Medicine, 2024
Uncovering the Genetic Etiology of Inherited Bone Marrow Failure Syndromes Using a Custom-Designed Next-Generation Sequencing Panel.
Lin F et al.
The Journal of Molecular Diagnostics : Jmd, 2024
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
A single-center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease-causing genotypes.
Kager L et al.
Hemasphere, 2024
Hereditary Spherocytosis: Can Next-Generation Sequencing of the Five Most Frequently Affected Genes Replace Time-Consuming Functional Investigations?
Häuser F et al.
International Journal of Molecular Sciences, 2023
When alpha spectrin null alleles meet low expression alpha spectrin polymorphisms.
Fermo E et al.
British Journal of Haematology, 2023
Molecular insights into hereditary elliptocytosis and pyropoikilocytosis: NGS uncovers multiple potential candidate genes.
Shome DK et al.
Annals of Hematology, 2023
Genetic mutation analysis of hereditary spherocytosis in Guangxi Zhuang Autonomous Region.
Chen X et al.
Journal of Hematopathology, 2023
[Clinical and gene mutation characteristics of patients with hereditary ellipsocytosis: nine cases report and literature review].
Liu X et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2023
Novel Variant of the SLC4A1 Gene Associated with Hereditary Spherocytosis.
Bogusławska DM et al.
Biomedicines, 2023
Biochemical Characteristics of iPSC-Derived Dopaminergic Neurons from N370S GBA Variant Carriers with and without Parkinson's Disease.
Grigor'eva EV et al.
International Journal of Molecular Sciences, 2023
Effects of SPTA1 Gene Variants on the Hematological Phenotype of Mexican Patients with Hereditary Spherocytosis.
Herrera-Tirado IM et al.
Genetic Testing and Molecular Biomarkers, 2022
Persistent neonatal jaundice resulting from hereditary pyropoikilocytosis.
Sivaguru G et al.
American Journal of Hematology, 2022
Study on Management of Blood Transfusion Therapy in Patients with Hereditary Spherocytosis.
Ma S et al.
Applied Bionics and Biomechanics, 2022
Effect of primary lesions in cytoskeleton proteins on red cell membrane stability in patients with hereditary spherocytosis.
Vercellati C et al.
Frontiers in Physiology, 2022
Multidisciplinary In-Depth Investigation in a Young Athlete Suffering from Syncope Caused by Myocardial Bridge.
Brancaccio M et al.
Diagnostics (basel, Switzerland), 2021
Familial genotypic and phenotypic heterogeneity and its implications on genetic counseling exemplified in two cases of hereditary pyropoikilocytosis/erythrocytic spectrin-linked hemolytic anemia masquerading as congenital dyserythropoietic anemia.
Jamwal M et al.
Pediatric Blood & Cancer, 2021
Common host variation drives malaria parasite fitness in healthy human red cells.
Ebel ER et al.
Elife, 2021
Pitfalls in the Diagnosis of β-Thalassemia Intermedia.
Perera S et al.
Hemoglobin, 2021
Novel mechanism of hereditary pyropoikilocytosis phenotype due to co-inheritance of β globin and α spectrin mutations.
Kim SJ et al.
American Journal of Hematology, 2021
A Novel α-Spectrin Pathogenic Variant in Trans to α-Spectrin LELY Causing Neonatal Jaundice With Hemolytic Anemia From Hereditary Pyropoikilocytosis Coexisting With Gilbert Syndrome.
Suzuki T et al.
Journal of Pediatric Hematology/oncology, 2021
Targeted Next Generation Sequencing and Diagnosis of Congenital Hemolytic Anemias: A Three Years Experience Monocentric Study.
Fermo E et al.
Frontiers in Physiology, 2021
Targeted next-generation sequencing identified novel mutations associated with hereditary anemias in Brazil.
Svidnicki MCCM et al.
Annals of Hematology, 2020
Deciphering molecular heterogeneity of Indian families with hereditary spherocytosis using targeted next-generation sequencing: First South Asian study.
Aggarwal A et al.
British Journal of Haematology, 2020
Density, heterogeneity and deformability of red cells as markers of clinical severity in hereditary spherocytosis.
Huisjes R et al.
Haematologica, 2020
The Complexity of Genotype-Phenotype Correlations in Hereditary Spherocytosis: A Cohort of 95 Patients: Genotype-Phenotype Correlation in Hereditary Spherocytosis.
van Vuren A et al.
Hemasphere, 2019
Molecular diagnostic update in hereditary hemolytic anemia and neonatal hyperbilirubinemia.
Rets A et al.
International Journal of Laboratory Hematology, 2019
Hereditary elliptocytosis-associated alpha-spectrin mutation p.L155dup as a modifier of sickle cell disease severity.
Risinger M et al.
Pediatric Blood & Cancer, 2019
X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
Khan MJ et al.
Scientific Reports, 2018
[Analysis of SPTA1 gene mutations in a patient with hereditary elliptocytosis].
Ma S et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2018
Analysis of the causes of the misdiagnosis of hereditary spherocytosis.
Ma S et al.
Oncology Reports, 2018
KLF1 E325K-associated Congenital Dyserythropoietic Anemia Type IV: Insights Into the Variable Clinical Severity.
Ravindranath Y et al.
Journal of Pediatric Hematology/oncology, 2018
Novel compound heterozygous SPTA1 mutations in a patient with hereditary elliptocytosis.
Ma S et al.
Molecular Medicine Reports, 2018
Dupuytren's and Ledderhose Diseases in a Family with LMNA-Related Cardiomyopathy and a Novel Variant in the ASTE1 Gene.
Zaragoza MV et al.
Cells, 2017
Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.
Bakhchane A et al.
Plos One, 2017
Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.
Maguire SL et al.
The Journal of Pathology, 2016
Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis.
Niss O et al.
Blood Cells, Molecules & Diseases, 2016
Clinical utility of next-generation sequencing in the diagnosis of hereditary haemolytic anaemias.
Agarwal AM et al.
British Journal of Haematology, 2016