Associated Papers
Hereditary Anemias as a Monogenic Etiology for Nonimmune Hydrops Fetalis.
Makhamreh MM et al.
Clinical Therapeutics, 2026
Hereditary pyropoikilocytosis resulting in artefactual thrombocytosis.
Molina-Arrebola MA et al.
British Journal of Haematology, 2025
Molecular characteristics of hereditary red blood cell membrane disorders in Thailand: a multi-center registry.
Songdej D et al.
Annals of Hematology, 2024
Diagnostic yield of targeted next-generation sequencing for pediatric hereditary hemolytic anemia.
Choi YJ et al.
Bmc Medical Genomics, 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
Literature review on genotype-phenotype correlation in patients with hereditary spherocytosis.
Yang L et al.
Clinical Genetics, 2022
Case Report: α-Spectrin Mutation Associated with αLELY Polymorphism Responsible for Hereditary Pyropoikilocytosis.
Sánchez Villalobos M et al.
Hematology Reports, 2022
The many etiologies of nonimmune hydrops fetalis diagnosed by exome sequencing.
Wagner T et al.
Prenatal Diagnosis, 2022
[The utility of whole genome sequencing in rare disease diagnostics].
Johansson Soller M et al.
Lakartidningen, 2021
Characterization of hereditary red blood cell membranopathies using combined targeted next-generation sequencing and osmotic gradient ektacytometry.
Vives-Corrons JL et al.
International Journal of Hematology, 2021
Hereditary spherocytosis overlooked for 7 years in a pediatric patient with β-thalassemia trait and novel compound heterozygous mutations of SPTA1 gene.
Chen M et al.
Hematology (amsterdam, Netherlands), 2020
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.
Lindstrand A et al.
Genome Medicine, 2019
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
Aberrant splicing contributes to severe α-spectrin-linked congenital hemolytic anemia.
Gallagher PG et al.
The Journal of Clinical Investigation, 2019
Whole-exome sequencing for the genetic diagnosis of congenital red blood cell membrane disorders in Taiwan.
Lin PC et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2018
Whole-exome analysis to detect congenital hemolytic anemia mimicking congenital dyserythropoietic anemia.
Hamada M et al.
International Journal of Hematology, 2018
Hereditary elliptocytosis: Variable clinical severity caused by 3 variants in the α-spectrin gene.
Franck P et al.
International Journal of Laboratory Hematology, 2018
Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes.
Muramatsu H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis.
Niss O et al.
Blood Cells, Molecules & Diseases, 2016
Novel exon 2 α spectrin mutation and intragenic crossover: three morphological phenotypes associated with four distinct α spectrin defects.
Swierczek S et al.
Haematologica, 2013
Structural and functional effects of hereditary hemolytic anemia-associated point mutations in the alpha spectrin tetramer site.
Gaetani M et al.
Blood, 2008
Dynamic molecular modeling of pathogenic mutations in the spectrin self-association domain.
Zhang Z et al.
Blood, 2001
Association of the alpha-spectrin R28H mutation with allele alphaLELY and with alphaI/alphaII domain haplotypes in three Brazilian families.
Bassères DS et al.
European Journal of Haematology, 2000
[Genetic heterogeneity and phenotypic variability of hereditary diseases. 2].
Gencík A
Vnitrni Lekarstvi, 1977