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...
- 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...
- 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)...
- 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...
- 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...
- 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...
- 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...