Associated Papers
Genetic Analysis of 23 SNVs of Nine Genes Involved in RBC Membranopathies with the Hematological Parameters of Mexican Patients.
Espinoza-Mata LL et al.
Genetic Testing and Molecular Biomarkers, 2026
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
Hereditary elliptocytosis in a child with an autosomal recessive SPTA1 mutation: a case report from Saudi Arabia.
Alamr F
Journal of Medicine and Life, 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
Epilepsy in Legius syndrome: Coincidence or causation?
Medina Lemus A et al.
American Journal of Medical Genetics. Part A, 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
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
A stepwise diagnostic approach for undiagnosed Anemia in children: A model for low-middle income country.
Aly NH et al.
Blood Cells, Molecules & Diseases, 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
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
Identification of variants in 94 Chinese patients with hereditary spherocytosis by next-generation sequencing.
Wang WJ et al.
Clinical Genetics, 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
Diagnosis and clinical management of red cell membrane disorders.
Kalfa TA
Hematology. American Society of Hematology. Education Program, 2021
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
Pitfalls in the Diagnosis of β-Thalassemia Intermedia.
Perera S et al.
Hemoglobin, 2021
Complex Modes of Inheritance in Hereditary Red Blood Cell Disorders: A Case Series Study of 155 Patients.
Andolfo I et al.
Genes, 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
Hereditary red blood cell membrane defects. Detection of PIEZO1 mutations associated with SPTA1 mutations. An unusual clinical case of hereditary xerocytosis.
Fortugno C et al.
Pediatric Hematology and 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
Exome sequencing for diagnosis of congenital hemolytic anemia.
Mansour-Hendili L et al.
Orphanet Journal of Rare Diseases, 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
Aberrant splicing contributes to severe α-spectrin-linked congenital hemolytic anemia.
Gallagher PG et al.
The Journal of Clinical Investigation, 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
The Spectrum of SPTA1-Associated Hereditary Spherocytosis.
Chonat S et al.
Frontiers in Physiology, 2019
Analysis of the causes of the misdiagnosis of hereditary spherocytosis.
Ma S et al.
Oncology Reports, 2018
Novel compound heterozygous SPTA1 mutations in a patient with hereditary elliptocytosis.
Ma S et al.
Molecular Medicine Reports, 2018
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
A genomic deletion causes truncation of α-spectrin and ellipto-poikilocytosis.
Iolascon A et al.
Blood Cells, Molecules & Diseases, 2011