Publications by authors named "Clementina Carestia"

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South-Italy β°-thalassemia: a novel deletion not removing the γ-globin silencing element and with 3' breakpoint in a hsRTVL-H element, associated with β°-thalassemia and high levels of HbF.
Maria De Angioletti, Vincenzo Sabato, Gennaro Musollino, Romeo Prezioso, Clementina Carestia

Haematologica· August 2013

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Molecular mechanisms of a novel β-thalassaemia mutation due to the duplication of tetranucleotide 'AGCT' at the junction IVS-II/exon 3.
Gennaro Musollino, Gabriella Mastrolonardo, Romeo Prezioso, Leonilde Pagano, Paola Primignani, Clementina Carestia

Ann Hematol· November 2012

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Genotype-phenotype relationship of the δ-thalassemia and Hb A(2) variants: observation of 52 genotypes.
Giuseppina Lacerra, Clelia Scarano, Laura F Lagona, Rosario Testa, Daniela G Caruso, Clementina Carestia

Hemoglobin· March 2011

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HbA2-Partinico or delta(A2)Pro-->Thr, a new genetic variation in the delta-globin gene in cis to the beta(+) thal IVS-I-110 G>A, and the heterogeneity of delta-globin alleles in double heterozygotes for beta- and delta-globin gene defects.
Giuseppina Lacerra, Clelia Scarano, Gennaro Musollino, Rosario Testa, Romeo Prezioso, Clementina Carestia

Ann Hematol· February 2010

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Hb Southern Italy: coexistence of two missence mutations (the Hb Sun Prairie alpha2 130 Ala > Pro and Hb Caserta alpha2 26 Ala > Thr) in a single HBA2 gene.
Giuseppina Lacerra, Clementina Carestia

Br J Haematol· June 2009

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Molecular evidences of single mutational events followed by recurrent crossing-overs in the common delta-globin alleles in the Mediterranean area.
Giuseppina Lacerra, Gennaro Musollino, Clelia Scarano, Laura F Lagona, Daniela G Caruso, Clementina Carestia

Gene· February 2008

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Hb Foggia or alpha 117(GH5)Phe -> Ser: a new alpha 2 globin allele affecting the alpha Hb-AHSP interaction.
Giuseppina Lacerra, Clelia Scarano, Gennaro Musollino, Angela Flagiello, Piero Pucci, Clementina Carestia

Haematologica· January 2008

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Genotyping for known Mediterranean alpha-thalassemia point mutations using a multiplex amplification refractory mutation system.
Giuseppina Lacerra, Gennaro Musollino, Francesca Di Noce, Romeo Prezioso, Clementina Carestia

Haematologica· February 2007

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Sequence variations of the alpha-globin genes: scanning of high CG content genes with DHPLC and DG-DGGE.
Giuseppina Lacerra, Mirella Fiorito, Gennaro Musollino, Francesca Di Noce, Maria Esposito, Clementina Carestia

Hum Mutat· October 2004

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Beta-thalassaemia-87 C-->G: relationship of the Hb F modulation and polymorphisms in compound heterozygous patients.
Maria De Angioletti, Giuseppina Lacerra, Leonilde Pagano, Mario Alessi, Rossana D'Avino, Clementina Carestia

Br J Haematol· September 2004

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Hb Gun Hill: a further de novo observation.
Maria De Angioletti, Giuseppina Lacerra, Rosario Testa, Angela Flagiello, Gino Schilirò, Clementina Carestia

Haematologica· June 2004

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Beta+45 G --> C: a novel silent beta-thalassaemia mutation, the first in the Kozak sequence.
Maria De Angioletti, Giuseppina Lacerra, Vincenzo Sabato, Clementina Carestia

Br J Haematol· January 2004

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Hb Bronte or alpha93(FG5)Val-->Gly: a new unstable variant of the alpha2-globin gene, associated with a mild alpha(+)-thalassemia phenotype.
Giuseppina Lacerra, Rosario Testa, Maria De Angioletti, Gino Schilirò, Clementina Carestia

Hemoglobin· August 2003

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Epidemiology of the delta globin alleles in southern Italy shows complex molecular, genetic, and phenotypic features.
Maria De Angioletti, Giuseppina Lacerra, Carlo Gaudiano, Gabriella Mastrolonardo, Leonilde Pagano, Clementina Carestia

Hum Mutat· November 2002

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Beta- and alpha-globin genotypes in Albanian patients affected by beta-globin gene disorders.
Maria De Angioletti, Giuseppina Lacerra, Enis Boletinio, Francesca Di Noce, Gennaro Musollino, Clementina Carestia

Haematologica· September 2002

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Hb A2-Monreale [delta146(HC3)His-->Arg], a novel delta chain variant detected in west Sicily.
Maria De Angioletti, Caterina Di Girgenti, Rosalia Messineo, Marcello Capra, Clementina Carestia

Hemoglobin· February 2002

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