Publications by authors named "Maria Cappabianca"

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A Clinical Update of the Hb Siirt [β27(B9)Ala→Gly; HBB: c.83C>G] Hemoglobin Variant.
Maria Pia Cappabianca, Alessia Colosimo, Annalaura Sabatucci, Enrico Dainese, Paola Di Biagio

Hemoglobin· January 2017

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A Family with γ-Thalassemia and High Hb A2 Levels.
Giulia Parmeggiani, Francesca Gualandi, Rita Selvatici, Paola Rimessi, Stefania Bigoni, Maria P Cappabianca

Hemoglobin· June 2016

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Epidemiology and screening of sickle cell anemia in the Mediterranean area and in developing countries.
Antonio Amato, Paola Grisanti, Fabrizio Mastropietro, Maria Lerone, Maria Pia Cappabianca

Ig Sanita Pubbl· October 2014

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Carrier screening for inherited haemoglobin disorders among secondary school students and young adults in Latium, Italy.
Antonio Amato, Maria Pia Cappabianca, Maria Lerone, Alessia Colosimo, Paola Grisanti

J Community Genet· July 2014

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Hb Filottrano [codon 120 (-A)]: a novel frameshift mutation in exon 3 of the β-globin gene causing dominantly inherited β-thalassemia intermedia.
Antonio Amato, Maria Pia Cappabianca, Maria Perri, Ivo Zaghis, Fabrizio Mastropietro

Hemoglobin· January 2013

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Current Genetic Epidemiology of β-Thalassemias and Structural Hemoglobin Variants in the Lazio Region (Central Italy) Following Recent Migration Movements.
Antonio Amato, Maria Pia Cappabianca, Alessia Colosimo, Maria Perri, Paola Grisanti

Adv Hematol· July 2011

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[35 years of prevention of the Thalassemia].
Antonio Amato, Maria Lerone, Paola Grisanti, Maria Pia Cappabianca, Donatella Ponzini

Ig Sanita Pubbl· June 2011

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Application of MLPA assay to characterize unsolved α-globin gene rearrangements.
Alessia Colosimo, Valentina Gatta, Valentina Guida, Eleonora Leodori, Enrica Foglietta, Maria Pia Cappabianca

Blood Cells Mol Dis· February 2011

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A new beta-chain haemoglobin variant with increased oxygen affinity: Hb Roma [beta115(g17)Ala-->Val].
Barbara Manconi, Maria Cristina De Rosa, Maria Pia Cappabianca, Alessandra Olianas, Cristiana Carelli Alinovi

Biochim Biophys Acta· March 2010

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Two new beta-thalassemia deletions compromising prenatal diagnosis in an Italian and a Turkish couple seeking prevention.
Marion Phylipsen, Antonio Amato, Maria Pia Cappabianca, Jan Traeger-Synodinos, Emmanuel Kanavakis

Haematologica· September 2009

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Hb L'Aquila [beta106(G8)Leu-->Val, CTG-->GTG]: a novel thalassemic hemoglobin variant.
Antonio Amato, Maria Pia Cappabianca, Donatella Ponzini, Silvana Rinaldi, Paola Di Biagio

Hemoglobin· October 2007

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Hb Santa Clara (beta 97His-->Asn), a human haemoglobin variant: functional characterization and structure modelling.
Maria Cristina De Rosa, Cristiana Carelli Alinovi, Maria Eugenia Schininà, Maria Elisabetta Clementi, Antonio Amato, Maria Pia Cappabianca

Biochim Biophys Acta· October 2007

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Differential segregation of beta+ IVS-I-110 (G --> A), A(gamma) -117 (G-->A), and G(gamma) -158 (C --> T) mutations in members of an Albanian family.
Maria P Cappabianca, Enrica Foglietta, Paola Grisanti, Fabrizio Mastropietro, Lidia Russo

Hemoglobin· November 2003

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Identification of G6PD Mediterranean mutation by amplification refractory mutation system.
Donatella Maffi, Maria Teresa Pasquino, Patrizia Caprari, Maria Pia Caforio, Paolo Cianciulli, Maria Pia Cappabianca

Clin Chim Acta· July 2002

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Reliability of DHPLC in mutational screening of beta-globin (HBB) alleles.
Alessia Colosimo, Valentina Guida, Alessandro De Luca, Maria Pia Cappabianca, Ida Bianco

Hum Mutat· March 2002

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Factors regulating Hb F synthesis in thalassemic diseases.
Fabrizio Mastropietro, Guido Modiano, Maria Cappabianca, Enrica Foglietta, Carmelo D'Asero

BMC Blood Disord· February 2002

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