Affiliation: San Giovanni Rotondo and CSS-Mendel Institute
- Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assayAlessia Colosimo
IRCCS CSS, San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy
Hum Mutat 21:622-9. 2003..Overall, this study represents the molecular characterization of the largest cohort of Italian WS patients and carriers studied so far, and increases the number of identified WFS1 allelic variants worldwide...
- Validation of dHPLC for molecular diagnosis of beta-thalassemia in Southern ItalyAlessia Colosimo
CSS Mendel Institute, Viale Regine Margherita 261, 00198 Rome, Italy
Genet Test 7:269-75. 2003..Because of this property our protocol has the potential to be implemented for mutational screening in different areas of high prevalence for beta-thalassemia...
- Reliability of DHPLC in mutational screening of beta-globin (HBB) allelesAlessia Colosimo
CSS Mendel Institute, Rome, Italy
Hum Mutat 19:287-95. 2002..Compared to classical approaches of mutation screening, this method allows a rapid, highly sensitive, cost-effective, and semi-automated simultaneous mutational scanning of a large number of samples...
- Carrier screening for inherited haemoglobin disorders among secondary school students and young adults in Latium, ItalyAntonio Amato
Centro Studi Microcitemie Roma, Associazione Nazionale per la lotta contro le Microcitemie in Italia ANMI Onlus, Rome, Italy
J Community Genet 5:265-8. 2014....
- Denaturing HPLC-based assay for molecular screening of nondeletional mutations causing alpha-thalassemiasValentina Guida
Istituto di Ricovero e Cura a Carattere Scientifico IRCCS Casa Sollievo Sofferenza CSS, San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy
Clin Chem 50:1242-5. 2004
- Interaction of DIO2 T92A and PPARgamma2 P12A polymorphisms in the modulation of metabolic syndromeMirella Fiorito
CSS Mendel Institute, viale Regina Margherita, 261, 00198 Roma, Italy
Obesity (Silver Spring) 15:2889-95. 2007..If confirmed in other populations, comprising several thousand individuals, these data may help identify individuals at risk for insulin resistance-related abnormalities...
- Current Genetic Epidemiology of β-Thalassemias and Structural Hemoglobin Variants in the Lazio Region (Central Italy) Following Recent Migration MovementsAntonio Amato
ANMI Onlus, Centro Studi Microcitemie, Rome, Italy
Adv Hematol 2010:317542. 2010..Since a few defects are prevalent in each country, a proper strategy for the identification of mutations in immigrant individuals relies on the prior knowledge of their frequency in native ethnic group...
- Sequence-specific modification of a beta-thalassemia locus by small DNA fragments in human erythroid progenitor cellsAlessia Colosimo
Haematologica 92:129-30. 2007..In both cases, gene modification was assayed by allele-specific polymerase chain reaction of DNA and mRNA, by restriction fragment length polymorphism analysis and by direct sequencing...
- Influence of Ggamma-158C --> and beta- (AT)x(T)y globin gene polymorphisms on HbF levels in Italian beta-thalassemia carriers and wild-type subjectsValentina Guida
Haematologica 91:1275-6. 2006..The -158GgammaT and the (AT)9(T)5alleles were found to be associated with increased levels of HbF in beta-thal carriers, but not in wild-type subjects...
- Mutational analysis of parkin gene by denaturing high-performance liquid chromatography (DHPLC) in essential tremorSimona Pigullo
Department of Neurosciences, Ophthalmology and Genetics, Section of Medical Genetics, University of Genoa c o DIMI, Viale Benedetto XV 6, 16132 Genoa, Italy
Parkinsonism Relat Disord 10:357-62. 2004..To evaluate the relationship between point mutations within the parkin gene and essential tremor (ET)...
- Detection of a rare beta-globin nonsense mutation [codon 59 (AAG-->TAG)] in an Italian familyAntonio Amato
Associazione Nazionale Microcitemie Italia ANMI ONLUS, Centro Studi Microcitemie di Roma, Roma, Italia
Hemoglobin 30:405-7. 2006..3% in the proband and 1% in his father)...
- Identification of 14 rare marker chromosomes and derivatives by spectral karyotyping in prenatal and postnatal diagnosisPaolo Guanciali-Franchi
Dipartimento di Scienze Biomediche Sez di Genetica Medica, Universita di Chieti, 66100 Chieti, Italy
Am J Med Genet A 127:144-8. 2004..SKY analysis permitted the classification of chromosome rearrangements in all 14 cases analysed in combination with FISH analysis...
- Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programsLiborio Stuppia
Dipartimento di Scienze Biomediche, Universita G D Annunzio, Chieti Pescara, Italy
Eur J Hum Genet 13:959-64. 2005..In order to improve genetic counselling of these couples, the TG-M470V-5T association was analyzed, and a statistically significant relationship between 12TG-V470 and CBAVD was detected...
- Hematologic and molecular characterization of a Sicilian cohort of alpha thalassemia carriersValentina Guida
Haematologica 91:409-10. 2006..Direct sequence analysis carried out in the remaining 65 negative individuals revealed no further sequence variants...