Monica Cannata

Palermo, Italy

Last Updated: 09/26/2026

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Found 15 publications

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.

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.

Journal: Hemoglobin
Published: August 29, 2019

Hb Vanvitelli: A new unstable α-globin chain variant causes undiagnosed chronic haemolytic anaemia when co-inherited with deletion - α3.7.

Hb Vanvitelli: A new unstable α-globin chain variant causes undiagnosed chronic haemolytic anaemia when co-inherited with deletion - α3.7.

Journal: Clinical biochemistry
Published: August 02, 2019

HBB: c.316-125A>G and HBB: c.316-42delC: Phenotypic Evaluations of Two Rare Changes in the Second Intron of the HBB Gene.

HBB: c.316-125A>G and HBB: c.316-42delC: Phenotypic Evaluations of Two Rare Changes in the Second Intron of the HBB Gene.

Journal: Hemoglobin
Published: November 25, 2017

Co-inheritance of HBB:c.-106G > C, a rare single nucleotide variation at position -56 relative to transcription initiation site, with other known mutations in the globin clusters.

Co-inheritance of HBB:c.-106G > C, a rare single nucleotide variation at position -56 relative to transcription initiation site, with other known mutations in the globin clusters.

Journal: Hematology (Amsterdam, Netherlands)
Published: November 22, 2017

Phenotypic Evaluation of a Novel Nucleotide Substitution (HBD: c.442T>C) on the δ-Globin Gene.

Phenotypic Evaluation of a Novel Nucleotide Substitution (HBD: c.442T>C) on the δ-Globin Gene.

Journal: Hemoglobin
Published: August 26, 2017

Phenotypic evaluations of HBB:c.93-23T>C, a nucleotide substitution in the IVS I nt 108 of β-globin gene.

Phenotypic evaluations of HBB:c.93-23T>C, a nucleotide substitution in the IVS I nt 108 of β-globin gene.

Journal: Journal of clinical pathology
Published: June 30, 2017

Coheredity of a new silent mutation: c.-29G>T, with a severe β-thal mutation in a patient with β-thalassemia intermediate.

Coheredity of a new silent mutation: c.-29G>T, with a severe β-thal mutation in a patient with β-thalassemia intermediate.

Journal: International journal of laboratory hematology
Published: June 01, 2017

Coinheritance of a Rare Nucleotide Substitution on the β-Globin Gene and Other Known Mutations in the Globin Clusters: Management in Genetic Counseling.

Coinheritance of a Rare Nucleotide Substitution on the β-Globin Gene and Other Known Mutations in the Globin Clusters: Management in Genetic Counseling.

Journal: Hemoglobin
Published: June 04, 2016

Hb San Cataldo [β144(HC1)Lys→Thr; HBB: C.434A > C]: A New Hemoglobin Variant with Increased Affinity for Oxygen.

Hb San Cataldo [β144(HC1)Lys→Thr; HBB: C.434A > C]: A New Hemoglobin Variant with Increased Affinity for Oxygen.

Journal: Hemoglobin
Published: June 03, 2016

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.

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.

Journal: International journal of laboratory hematology
Published: July 03, 2015

Phenotypic evaluations of -223 T>C (HBB:c.-223T>C) nucleotide substitution in the promoter region of β-globin gene.

Phenotypic evaluations of -223 T>C (HBB:c.-223T>C) nucleotide substitution in the promoter region of β-globin gene.

Journal: Blood cells, molecules & diseases
Published: June 19, 2015

Incidence of haemoglobinopathies in Sicily: the impact of screening and prenatal diagnosis.

Incidence of haemoglobinopathies in Sicily: the impact of screening and prenatal diagnosis.

Journal: International journal of clinical practice
Published: March 03, 2015
Showing 1-12 of 15

Last Updated: 09/26/2026