Get started
Author

Margherita Vinciguerra

Observed names: M. Vinciguerra, M.V. Margherita Vinciguerra
Observed institution: Ospedale Vincenzo Cervello
ORCID: 0009-0001-1975-0843
Observed ORCID: 0009-0001-1975-0843
OpenAlex ID: A5066847014
Significance of borderline hemoglobin A2 values in an Italian population with a high prevalence of -thalassemia
2008 · A. Giambona, C. Passarello, et al. · Haematologica · 76
PDF
Iron deficiency does not compromise the diagnosis of high HbA2 thalassemia trait
2011 · C. Passarello, A. Giambona, et al. · Haematologica · 40
PDF
The genetic heterogeneity of β-globin gene defects in Sicily reflects the historic population migrations of the island
2011 · Antonino Giambona, Margherita Vinciguerra, et al. · Blood Cells Molecules and Diseases · 36
Incidence of haemoglobinopathies in Sicily: the impact of screening and prenatal diagnosis
2015 · A. Giambona, G. Damiani, et al. · International Journal of Clinical Practice · 26
PDF
Celocentesis for early prenatal diagnosis of hemoglobinopathy
2020 · G. Makrydimas, G. Damiani, et al. · Ultrasound in Obstetrics and Gynecology · 16
PDF
Fetal aneuploidy diagnosed at celocentesis for early prenatal diagnosis of congenital hemoglobinopathies
2018 · Antonino Giambona, Filippo Leto, et al. · Acta Obstetricia Et Gynecologica Scandinavica · 13
Hb Marineo [β70(E14)Ala→Val]: A Silent Hemoglobin Variant with a Mutation Within the Heme Pocket
2006 · Antonino Giambona, Margherita Vinciguerra, et al. · Hemoglobin · 11
Celomic Fluid: Laboratory Workflow for Prenatal Diagnosis of Monogenic Diseases
2022 · Antonino Giambona, Margherita Vinciguerra, et al. · Molecular Diagnosis & Therapy · 10
Co‐inheritance of the rare β hemoglobin variants Hb Yaounde, Hb Görwihl and Hb City of Hope with other alterations in globin genes: impact in genetic counseling
2014 · Margherita Vinciguerra, Cristina Passarello, et al. · European Journal Of Haematology · 10
Very early prenatal diagnosis of Cockayne’s syndrome by coelocentesis
2022 · Antonino Giambona, Margherita Vinciguerra, et al. · Journal of Obstetrics and Gynaecology · 9
Co‐heredity of silent CAP + 1570 T>C ( HBB :c*96T>C) defect and severe β‐thal mutation: a cause of mild β‐thalassemia intermedia
2015 · M. Vinciguerra, C. Passarello, et al. · International Journal of Laboratory Hematology · 9
Identification of three new nucleotide substitutions in the β‐globin gene: laboratoristic approach and impact on genetic counselling for beta‐thalassaemia
2014 · Margherita Vinciguerra, Cristina Passarello, et al. · European Journal Of Haematology · 8
Early prenatal diagnosis of Hb Lepore Boston‐Washington and β‐thalassemia on fetal celomatic DNA
2022 · Antonino Giambona, Filippo Leto, et al. · International Journal of Laboratory Hematology · 7
Incidental Detection of a Chromosomal Aberration by Array-CGH in an Early Prenatal Diagnosis for Monogenic Disease on Coelomic Fluid
2022 · Margherita Vinciguerra, Filippo Leto, et al. · Life · 6
PDF
Prenatal Diagnosis of Cystic Fibrosis by Celocentesis
2024 · Antonino Giambona, Margherita Vinciguerra, et al. · Genes · 4
Celocentesis for Early Prenatal Diagnosis in Couples at-Risk for β-Thalassemia and Sicilian (δβ)0-Thalassemia
2022 · Antonino Giambona, Filippo Leto, et al. · Hemoglobin · 4
Coheredity of a new silent mutation: c.‐29G>T, with a severe β‐thal mutation in a patient with β‐thalassemia intermediate
2018 · M. Vinciguerra, C. Passarello, et al. · International Journal of Laboratory Hematology · 4
Coinheritance of a Rare Nucleotide Substitution on theβ-Globin Gene and Other Known Mutations in the Globin Clusters: Management in Genetic Counseling
2016 · Margherita Vinciguerra, Cristina Passarello, et al. · Hemoglobin · 4
Role of Novel and Rare Nucleotide Substitutions of the β-Globin Gene
2012 · Margherita Vinciguerra, Monica Cannata, et al. · Thalassemia Reports · 4
PDF
HBB: c.316-125A>G and HBB: c.316-42delC: Phenotypic Evaluations of Two Rare Changes in the Second Intron of the HBB Gene
2017 · Margherita Vinciguerra, Monica Cannata, et al. · Hemoglobin · 3
Phenotypic evaluations of HBB:c.93-23T>C, a nucleotide substitution in the IVS I nt 108 of β-globin gene
2017 · Margherita Vinciguerra, Filippo Cassarà, et al. · Journal of Clinical Pathology · 2
Hb San Cataldo [β144(HC1)Lys→Thr;HBB: C.434A > C]: A New Hemoglobin Variant with Increased Affinity for Oxygen
2016 · Margherita Vinciguerra, Cristina Passarello, et al. · Hemoglobin · 2
Celocentesis: Current Evidence and Future Directions
2026 · Fabiana Cecchini, Silvia Visentin, et al. · Journal of Clinical Medicine · 1
PDF
Double Heterozygosity for Hb Durham-N.C. (HBB: c.344T>C) [β114(G16)Leu→Pro] and the IVS-I-110 (HBB: c.93-21G>A) Causing a Severe β-Thalassemia Phenotype
2019 · Monica Cannata, Filippo Cassarà, et al. · Hemoglobin · 1
Phenotypic evaluations of − 223 T>C (HBB:c.− 223T>C) nucleotide substitution in the promoter region of β-globin gene
2015 · Antonino Giambona, Cristina Passarello, et al. · Blood Cells Molecules and Diseases · 1
Works count: 34
Citation count: 308
H-index: 9
I10-index: 9
Year
Topic
Type