Genomes and Genes
Affiliation: San Giovanni Rotondo and CSS-Mendel Institute
- Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1Alessandro De Luca
IRCCS CSS, San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy
Hum Mutat 23:629. 2004..Fifteen sequence variants likely to represent non-pathogenic polymorphisms were observed at the NF1 locus. Genotype-phenotype analysis was unable to detect any obvious correlation...
- Multiplex ligation-dependent probe amplification analysis of GATA4 gene copy number variations in patients with isolated congenital heart diseaseValentina Guida
Casa Sollievo della Sofferenza Hospital, IRCCS, San Giovanni Rotondo, Rome, Italy
Dis Markers 28:287-92. 2010..MLPA analysis revealed that normalized MLPA signals were all found within the normal range values for all exons in all patients, excluding a major contribution of GATA4 gene CNVs in CHD pathogenesis...
- Familial transposition of the great arteries caused by multiple mutations in laterality genesAlessandro De Luca
Mendel Laboratory, Casa Sollievo della Sofferenza Hospital, IRCCS, San Giovanni Rotondo, Italy
Heart 96:673-7. 2010..In general, TGA is not associated with the more common genetic disorders nor with extracardiac anomalies, whereas it can be found in individuals with lateralisation defects, heterotaxy and asplenia syndrome (right isomerism)...
- Fluorescence in situ hybridization analysis of allelic losses involving the long arm of chromosome 17 in NF1-associated neurofibromasAlessandro De Luca
IRCCS CSS, San Giovanni Rotondo and CSS Mendel Institute, Viale Regina Margherita 261, 00198 Rome, Italy
Cancer Genet Cytogenet 150:168-72. 2004....
- New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricleAlessandro De Luca
CSS Mendel Institute, Casa Sollievo della Sofferenza Hospital, IRCCS, San Giovanni Rotondo, Rome, Italy
Clin Genet 80:184-90. 2011..5 to a small number of TOF cases...
- Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi-exon deletionIrene Bottillo
IRCCS, Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy
Am J Med Genet A 152:1467-73. 2010..Real-time PCR showed that the mutation was present in about 10-17% of the paternal sperms. Current results confirm that germline mosaicism can explain the recurrence of NF1 in offspring of unaffected parents...
- Functional analysis of splicing mutations in exon 7 of NF1 geneIrene Bottillo
IRCCS CSS, San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy
BMC Med Genet 8:4. 2007..Neurofibromatosis type 1 is one of the most common autosomal dominant disorders, affecting about 1:3,500 individuals. NF1 exon 7 displays weakly defined exon-intron boundaries, and is particularly prone to missplicing...
- Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletionAntonio Pizzuti
Department of Experimental Medicine, Sapienza University, Rome, Italy
Neurogenetics 12:233-40. 2011..Our study widens the phenotypic and mutational spectrum of NF1 and illustrates the difficulties of counseling patients with border-line or atypical presentation of this disorder...
- Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosisMaria Cecilia D'Asdia
Casa Sollievo della Sofferenza Hospital, IRCCS, San Giovanni Rotondo, Italy
Eur J Med Genet 56:80-7. 2013..Accordingly, EVC2 exon 22 should be analyzed with priority by mutation screening in individuals with a suspected diagnosis of Weyers acrofacial dysostosis...
- p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromasValentina Pinna
IRCCS Casa Sollievo della Sofferenza Hospital, Mendel Institute, Rome, Italy
Eur J Hum Genet 23:1068-71. 2015..Our finding and revision of the literature consistently indicate that the c.5425C>T change is associated with a distinctive, mild form of NF1, providing new data with direct impact on genetic counseling and patient management. ..
- A nationwide genetic testing survey in Italy, year 2007Bruno Dallapiccola
IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, and CSS Mendel Institute, Rome, Italy
Genet Test Mol Biomarkers 14:17-22. 2010....
- Four-year follow-up study in a NF1 boy with a focal pontine hamartomaPasquale Parisi
Child Neurology, Chair of Paediatrics, NESMOS Department, Faculty of Medicine and Psychology, Sapienza University c o St Andrea Hospital, Via di Grottarossa 1035 1039, 00189, Rome, Italy
Ital J Pediatr 39:10. 2013..We performed a four years follow-up study and at follow-up pontine hamartoma size remained unchanged in the son, and the father showed still no brain lesions, confirming thus an intra-familial phenotype variability...
- DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutationsMonia Magliozzi
IRCCS CSS Mendel Institute, Rome, Italy
Dis Markers 22:257-64. 2006..The high incidence of new and individual A-T mutations in our cohort of patients demonstrates marked mutational heterogeneity of A-T in Italy and corroborate the efficiency of DHPLC as a method for the mutation screening of A-T patients...
- ATM gene alterations in chronic lymphocytic leukemia patients induce a distinct gene expression profile and predict disease progressionAnna Guarini
Division of Hematology, Department of Cellular Biotechnologies and Hematology, Sapienza University, Rome, Italy
Haematologica 97:47-55. 2012..The genetic characterization of chronic lymphocytic leukemia cells correlates with the behavior, progression and response to treatment of the disease...
- Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenitaAnna Modoni
Department of Neuroscience, Catholic University, Rome, Italy
J Clin Neurophysiol 28:39-44. 2011..The 3 Hz protocol was well tolerated and showed good sensitivity and reproducibility. Furthermore, this test might be suitable for genotype-phenotype correlation studies...
- 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...
- Genetic testing in Italy, year 2004Bruno Dallapiccola
Istituto CSS Mendel, viale Regina Margherita, Rome, Italy
Eur J Hum Genet 14:911-6. 2006....
- Five cases of supernumerary small ring chromosomes 1: heterogeneity and genotype-phenotype correlationLaura Bernardini
Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo e Istituto CSS Mendel, Roma, Italy
Eur J Med Genet 50:94-102. 2007..In three subjects the involvement of the same euchromatic 1p region was demonstrated. Present observations corroborate previous results and provide some insight into the identification of the harmless ring(1) structures...
- Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathiesEloisa Arbustini
Cardiovascular Genetic Laboratory Transplant Research Area GISM Interdisciplinary Group for Marfan Syndrome, IRCCS Policlinico San Matteo and University of Pavia, Pavia, Italy
Hum Mutat 26:494. 2005..5%). Most mutations (67.9%) occurred in cbEGF-like modules. Genotype was clinically relevant for early diagnosis and conclusion of the diagnostic work-up in patients with incomplete or atypical phenotypes...
- 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...
- Type 2 deiodinase polymorphism (threonine 92 alanine) predicts L-thyroxine dose to achieve target thyrotropin levels in thyroidectomized patientsMassimo Torlontano
Department of Endocrinology, Scientific Institute Casa Sollievo della Sofferenza, v le Cappuccini, 71013 San Giovanni Rotondo, Italy
J Clin Endocrinol Metab 93:910-3. 2008..A common variant of the gene, threonine (Thr) 92 alanine (Ala), has been identified and associated with decreased D2 enzymatic activity...