1991 …2019

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2018

Clinical expression of cystic fibrosis in a large cohort of Italian siblings

Terlizzi, V., Lucarelli, M., Salvatore, D., Angioni, A., Bisogno, A., Braggion, C., Buzzetti, R., Carnovale, V., Casciaro, R., Castaldo, G., Cirilli, N., Collura, M., Colombo, C., Di Lullo, A. M., Elce, A., Lucidi, V., Madarena, E., Padoan, R., Quattrucci, S., Raia, V. & 3 others, Seia, M., Termini, L. & Zarrilli, F., Dec 22 2018, In : BMC Pulmonary Medicine. 18, 1, 196.

Research output: Contribution to journalArticle

Clinical expression of cystic fibrosis in a large cohort of Italian siblings

Terlizzi, V., Lucarelli, M., Salvatore, D., Angioni, A., Bisogno, A., Braggion, C., Buzzetti, R., Carnovale, V., Casciaro, R., Castaldo, G., Cirilli, N., Collura, M., Colombo, C., Di Lullo, A. M., Elce, A., Lucidi, V., Madarena, E., Padoan, R., Quattrucci, S., Raia, V. & 3 others, Seia, M., Termini, L. & Zarrilli, F., Dec 22 2018, In : BMC Pulmonary Medicine. 18, 1

Research output: Contribution to journalArticle

Trans-heterozygosity for mutations enhances the risk of recurrent/chronic pancreatitis in patients with Cystic Fibrosis

Sofia, V. M., Surace, C., Terlizzi, V., Da Sacco, L., Alghisi, F., Angiolillo, A., Braggion, C., Cirilli, N., Colombo, C., Di Lullo, A., Padoan, R., Quattrucci, S., Raia, V., Tuccio, G., Zarrilli, F., Tomaiuolo, A. C., Novelli, A., Lucidi, V., Lucarelli, M., Castaldo, G. & 1 others, Angioni, A., Jan 1 2018, In : Molecular Medicine. 24, 38.

Research output: Contribution to journalArticle

Trans-heterozygosity for mutations enhances the risk of recurrent/chronic pancreatitis in patients with Cystic Fibrosis

Sofia, V. M., Surace, C., Terlizzi, V., Da Sacco, L., Alghisi, F., Angiolillo, A., Braggion, C., Cirilli, N., Colombo, C., Di Lullo, A., Padoan, R., Quattrucci, S., Raia, V., Tuccio, G., Zarrilli, F., Tomaiuolo, A. C., Novelli, A., Lucidi, V., Lucarelli, M., Castaldo, G. & 1 others, Angioni, A., Jul 27 2018, In : Molecular medicine (Cambridge, Mass.). 24, 1, p. 38 10 p.

Research output: Contribution to journalArticle

2017

Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with “Essential” Autism Spectrum Disorders

Napoli, E., Russo, S., Casula, L., Alesi, V., Amendola, F. A., Angioni, A., Novelli, A., Valeri, G., Menghini, D. & Vicari, S., Oct 12 2017, (Accepted/In press) In : Journal of Autism and Developmental Disorders. p. 1-8 8 p.

Research output: Contribution to journalArticle

Genotype-phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles

Terlizzi, V., Castaldo, G., Salvatore, D., Lucarelli, M., Raia, V., Angioni, A., Carnovale, V., Cirilli, N., Casciaro, R., Colombo, C., Di Lullo, A. M., Elce, A., Iacotucci, P., Comegna, M., Scorza, M., Lucidi, V., Perfetti, A., Cimino, R., Quattrucci, S., Seia, M. & 3 others, Sofia, V. M., Zarrilli, F. & Amato, F., 2017, In : Journal of Medical Genetics. 54, 4, p. 224-235 12 p.

Research output: Contribution to journalArticle

2016

Clinical and molecular characterization of two patients with palmoplantar keratoderma–congenital alopecia syndrome type 2

Castori, M., Morlino, S., Sana, M. E., Paradisi, M., Tadini, G., Angioni, A., Malacarne, M., Grammatico, P., Iascone, M. & Forzano, F., Aug 1 2016, In : Clinical and Experimental Dermatology. 41, 6, p. 632-635 4 p.

Research output: Contribution to journalArticle

Clinical and molecular characterization of two patients with palmoplantar keratoderma–congenital alopecia syndrome type 2

Castori, M., Morlino, S., Sana, M. E., Paradisi, M., Tadini, G., Angioni, A., Malacarne, M., Grammatico, P., Iascone, M. & Forzano, F., Aug 1 2016, In : Clinical and Experimental Dermatology. 41, 6, p. 632-635 4 p.

Research output: Contribution to journalArticle

Extensive molecular analysis suggested the strong genetic heterogeneity of idiopathic chronic pancreatitis

Sofia, V. M., Da Sacco, L., Surace, C., Tomaiuolo, A. C., Genovese, S., Grotta, S., Gnazzo, M., Petrocchi, S., Ciocca, L., Alghisi, F., Montemitro, E., Martemucci, L., Elce, A., Lucidi, V., Castaldo, G. & Angioni, A., 2016, In : Molecular Medicine. 22, p. 300-309 10 p.

Research output: Contribution to journalArticle

Genotype-phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles

Terlizzi, V., Castaldo, G., Salvatore, D., Lucarelli, M., Raia, V., Angioni, A., Carnovale, V., Cirilli, N., Casciaro, R., Colombo, C., Di Lullo, A. M., Elce, A., Iacotucci, P., Comegna, M., Scorza, M., Lucidi, V., Perfetti, A., Cimino, R., Quattrucci, S., Seia, M. & 3 others, Sofia, V. M., Zarrilli, F. & Amato, F., Oct 13 2016, (Accepted/In press) In : Journal of Medical Genetics.

Research output: Contribution to journalArticle

Genotype-phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles

Terlizzi, V., Castaldo, G., Salvatore, D., Lucarelli, M., Raia, V., Angioni, A., Carnovale, V., Cirilli, N., Casciaro, R., Colombo, C., Di Lullo, A. M., Elce, A., Iacotucci, P., Comegna, M., Scorza, M., Lucidi, V., Perfetti, A., Cimino, R., Quattrucci, S., Seia, M. & 3 others, Sofia, V. M., Zarrilli, F. & Amato, F., Oct 13 2016, (Accepted/In press) In : Journal of Medical Genetics.

Research output: Contribution to journalArticle

NK cell effector functions in a Chédiak-Higashi patient undergoing cord blood transplantation: Effects of in vitro treatment with IL-2

Cifaldi, L., Maria Pinto, R., Rana, I., Caniglia, M., Angioni, A., Petrocchi, S., Cancrini, C., Cursi, L., Palumbo, G., Zingoni, A., Gismondi, A., Rossi, P., Santoni, A. & Cerboni, C., Dec 1 2016, In : Immunology Letters. 180, p. 46-53 8 p.

Research output: Contribution to journalArticle

NK cell effector functions in a Chédiak-Higashi patient undergoing cord blood transplantation: Effects of in vitro treatment with IL-2

Cifaldi, L., Pinto, R. M., Rana, I., Caniglia, M., Angioni, A., Petrocchi, S., Cancrini, C., Cursi, L., Palumbo, G., Zingoni, A., Gismondi, A., Rossi, P., Santoni, A. & Cerboni, C., Dec 1 2016, In : Immunology Letters. 180, p. 46-53 8 p.

Research output: Contribution to journalArticle

2015

Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma

Grotta, S., D'Elia, G., Scavelli, R., Genovese, S., Surace, C., Sirleto, P., Cozza, R., Romanzo, A., De Ioris, M. A., Valente, P., Tomaiuolo, A. C., Lepri, F. R., Franchin, T., Ciocca, L., Russo, S., Locatelli, F. & Angioni, A., Nov 4 2015, In : BMC Cancer. 15, 1, 841.

Research output: Contribution to journalArticle

CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon

Pisaneschi, E., Sirleto, P., Lepri, F. R., Genovese, S., Dentici, M. L., Petrocchi, S., Angioni, A., Digilio, M. C. & Dallapiccola, B., Sep 3 2015, In : BMC Medical Genetics. 16, 1, 78.

Research output: Contribution to journalArticle

Hypoplastic left heart syndrome and 21q22.3 deletion

Ciocca, L., Digilio, M. C., Lombardo, A., D'Elia, G., Baban, A., Capolino, R., Petrocchi, S., Russo, S., Sirleto, P., Roberti, M. C., Marino, B., Angioni, A. & Dallapiccola, B., Mar 1 2015, In : American Journal of Medical Genetics, Part A. 167, 3, p. 579-586 8 p.

Research output: Contribution to journalArticle

Kabuki syndrome: Clinical and molecular diagnosis in the first year of life

Dentici, M. L., Di Pede, A., Lepri, F. R., Gnazzo, M., Lombardi, M. H., Auriti, C., Petrocchi, S., Pisaneschi, E., Bellacchio, E., Capolino, R., Braguglia, A., Angioni, A., Dotta, A., Digilio, M. C. & Dallapiccola, B., Feb 1 2015, In : Archives of Disease in Childhood. 100, 2, p. 158-164 7 p.

Research output: Contribution to journalArticle

Relationship between CFTR and CTRC variants and the clinical phenotype in late-onset cystic fibrosis disease with chronic pancreatitis

Tomaiuolo, A. C., Sofia, V. M., Surace, C., Majo, F., Genovese, S., Petrocchi, S., Grotta, S., Alghisi, F., Lucidi, V. & Angioni, A., Mar 1 2015, In : Journal of Molecular Diagnostics. 17, 2, p. 171-178 8 p.

Research output: Contribution to journalArticle

Sporadic Retinoblastoma and Pilocytic Astrocytoma: A Rare Association of Two Tumors

De Ioris, M. A., Carai, A., Valente, P., Angioni, A., Randisi, F., Cozza, R., Romanzo, A., Marras, C. E. & Mastronuzzi, A., Dec 1 2015, In : Pediatric Blood and Cancer. 62, 12, p. 2245-2246 2 p.

Research output: Contribution to journalArticle

2014

Baseline central nervous system magnetic resonance imaging in early detection of trilateral retinoblastoma: Pitfalls in the diagnosis of pineal gland lesions

De Ioris, M. A., Valente, P., Randisi, F., Buzzonetti, L., Carai, A., Cozza, R., Del Bufalo, F., Romanzo, A., Angioni, A., Cacchione, A., Bernardi, B. & Mastronuzzi, A., Dec 1 2014, In : Anticancer Research. 34, 12, p. 7449-7454 6 p.

Research output: Contribution to journalArticle

Diagnosis of Noonan syndrome and related disorders using target next generation sequencing

Lepri, F. R., Scavelli, R., Digilio, M. C., Gnazzo, M., Grotta, S., Dentici, M. L., Pisaneschi, E., Sirleto, P., Capolino, R., Baban, A., Russo, S., Franchin, T., Angioni, A. & Dallapiccola, B., Jan 23 2014, In : BMC Medical Genetics. 15, 1, 14.

Research output: Contribution to journalArticle

Telomere shortening and telomere position effect in mild ring 17 syndrome

Surace, C., Berardinelli, F., Masotti, A., Roberti, M. C., Da Sacco, L., D'Elia, G., Sirleto, P., Digilio, M. C., Cusmai, R., Grotta, S., Petrocchi, S., Hachem, M. E., Pisaneschi, E., Ciocca, L., Russo, S., Lepri, F. R., Sgura, A. & Angioni, A., Jan 7 2014, In : Epigenetics and Chromatin. 7, 1, 1.

Research output: Contribution to journalArticle

2013

Array-CGH characterization and genotype-phenotype analysis in a patient with a ring chromosome 6

Ciocca, L., Surace, C., Digilio, M. C., Roberti, M. C., Sirleto, P., Lombardo, A., Russo, S., Brizi, V., Grotta, S., Cini, C. & Angioni, A., 2013, In : BMC Medical Genomics. 6, 1, 3.

Research output: Contribution to journalArticle

Atrioventricular canal defect in patients with RASopathies

Digilio, M. C., Romana Lepri, F., Lisa Dentici, M., Henderson, A., Baban, A., Cristina Roberti, M., Capolino, R., Versacci, P., Surace, C., Angioni, A., Tartaglia, M., Marino, B. & Dallapiccola, B., Feb 2013, In : European Journal of Human Genetics. 21, 2, p. 200-204 5 p.

Research output: Contribution to journalArticle

Biological, functional and genetic characterization of bone marrow-derived mesenchymal stromal cells from pediatric patients affected by acute lymphoblastic leukemia

Conforti, A., Biagini, S., Del Bufalo, F., Sirleto, P., Angioni, A., Starc, N., Li Pira, G., Moretta, F., Proia, A., Contoli, B., Genovese, S., Ciardi, C., Antonietta Avanzini, M., Rosti, V., Lo-Coco, F., Locatelli, F. & Bernardo, M. E., Nov 7 2013, In : PLoS One. 8, 11, e76989.

Research output: Contribution to journalArticle

High-Resolution Array CGH Profiling Identifies Na/K Transporting ATPase Interacting 2 (NKAIN2) as a Predisposing Candidate Gene in Neuroblastoma

Romania, P., Castellano, A., Surace, C., Citti, A., De Ioris, M. A., Sirleto, P., De Mariano, M., Longo, L., Boldrini, R., Angioni, A., Locatelli, F. & Fruci, D., Oct 25 2013, In : PLoS One. 8, 10, e78481.

Research output: Contribution to journalArticle

Molecular and functional analysis of the large 5′ promoter region of CFTR gene revealed pathogenic mutations in CF and CFTR-related disorders

Giordano, S., Amato, F., Elce, A., Monti, M., Iannone, C., Pucci, P., Seia, M., Angioni, A., Zarrilli, F., Castaldo, G. & Tomaiuolo, R., May 2013, In : Journal of Molecular Diagnostics. 15, 3, p. 331-340 10 p.

Research output: Contribution to journalArticle

Syndromic non-compaction of the left ventricle: Associated chromosomal anomalies

Digilio, M., Bernardini, L., Gagliardi, M., Versacci, P., Baban, A., Capolino, R., Dentici, M., Roberti, M., Angioni, A., Novelli, A., Marino, B. & Dallapiccola, B., Oct 2013, In : Clinical Genetics. 84, 4, p. 362-367 6 p.

Research output: Contribution to journalArticle

Two novel cases of trilateral retinoblastoma: Genetics and review of the literature

D'Elia, G., Grotta, S., Del Bufalo, F., De Ioris, M. A., Surace, C., Sirleto, P., Romanzo, A., Cozza, R., Locatelli, F. & Angioni, A., Nov 2013, In : Cancer genetics. 206, 11, p. 398-401 4 p.

Research output: Contribution to journalArticle

2011

Characterization of a novel isolated deletion of the exon 3 within the CFTR gene: Relevance for phenotypic expression and genetic counseling

Tomaiuolo, A. C., Sirleto, P., Centrone, C., Surace, C., Alghisi, F., Petrocchi, S., Lombardo, A., Rossi, M., Torricelli, F., Lucidi, V. & Angioni, A., Jul 2011, In : Clinical Biochemistry. 44, 10-11, p. 799-803 5 p.

Research output: Contribution to journalArticle

Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome

Roberti, M. C., Surace, C., Digilio, M. C., D'Elia, G., Sirleto, P., Capolino, R., Lombardo, A., Tomaiuolo, A. C., Petrocchi, S. & Angioni, A., 2011, In : Orphanet Journal of Rare Diseases. 6, 1, 17.

Research output: Contribution to journalArticle

The etiology of acute recurrent pancreatitis in children: A challenge for pediatricians

Lucidi, V., Alghisi, F., Dall'Oglio, L., D'Apice, M. R., Monti, L., De Angelis, P., Gambardella, S., Angioni, A. & Novelli, G., May 2011, In : Pancreas. 40, 4, p. 517-521 5 p.

Research output: Contribution to journalArticle

2010

Clinical hallmarks and genetic polymorphisms in the CFTR gene contribute to the disclosure of the A1006E mutation

Tomaiuolo, A. C., Alghisi, F., Petrocchi, S., Surace, C., Roberti, M. C., Bella, S., Lucidi, V. & Angioni, A., Aug 2010, In : Clinical and Investigative Medicine. 33, 4

Research output: Contribution to journalArticle

Oncogenic role of miR-483-3p at the IGF2/483 locus

Veronese, A., Lupini, L., Consiglio, J., Visone, R., Ferracin, M., Fornari, F., Zanesi, N., Alder, H., D'Elia, G., Gramantieri, L., Bolondi, L., Lanza, G., Querzoli, P., Angioni, A., Croce, C. M. & Negrini, M., Apr 15 2010, In : Cancer Research. 70, 8, p. 3140-3149 10 p.

Research output: Contribution to journalArticle

Oncogenic role of miR-483-3p at the IGF2/483 locus (Cancer Research (2010) 70, (3140-3149) DOI: 10.1158/0008-5472.CAN-09-4456)

Veronese, A., Lupini, L., Consiglio, J., Visone, R., Ferracin, M., Fornari, F., Zanesi, N., Alder, H., D'Elia, G., Gramantieri, L., Bolondi, L., Lanza, G., Querzoli, P., Angioni, A., Croce, C. M. & Negrini, M., Jun 1 2010, In : Cancer Research. 70, 11, p. 4785 1 p.

Research output: Contribution to journalArticle

2009

DNA damage and related modifier genes in Italian cystic fibrosis patients

Sterpone, S., Cornetta, T., Angioni, A., Fiscarelli, E., Lucidi, V., Testa, A. & Cozzi, R., 2009, In : Biological Research. 42, 4, p. 477-486 10 p.

Research output: Contribution to journalArticle

Lyonization effects of the t(X;16) translocation on the phenotypic expression in a rare female with menkes disease

Sirleto, P., Surace, C., Santos, H., Bertini, E., Tomaiuolo, A. C., Lombardo, A., Boenzi, S., Bevivino, E., Dionisi-Vici, C. & Angioni, A., Mar 2009, In : Pediatric Research. 65, 3, p. 347-351 5 p.

Research output: Contribution to journalArticle

Mild ring 17 syndrome shares common phenotypic features irrespective of the chromosomal breakpoints location

Surace, C., Piazzolla, S., Sirleto, P., Digilio, M. C., Roberti, M. C., Lombardo, A., D'Elia, G., Tomaiuolo, A. C., Petrocchi, S., Capolino, R., El Hachem, M., Claps Sepulveda, D., Sgura, A. & Angioni, A., Sep 2009, In : Clinical Genetics. 76, 3, p. 256-262 7 p.

Research output: Contribution to journalArticle

RABGAP1L gene rearrangement resulting from a der(Y)t(Y;1)(q12;q25) in acute myeloid leukemia arising in a child with Klinefelter syndrome

Roberti, M. C., La Starza, R., Surace, C., Sirleto, P., Pinto, R. M., Pierini, V., Crescenzi, B., Mecucci, C. & Angioni, A., Mar 2009, In : Virchows Archiv. 454, 3, p. 311-316 6 p.

Research output: Contribution to journalArticle

2008

Diagnosis of atypical CF: A case-report to reflect

Alghisi, F., Angioni, A., Tomaiuolo, A. C., D'Apice, M. R., Bella, S., Novelli, G. & Lucidi, V., Jul 2008, In : Journal of Cystic Fibrosis. 7, 4, p. 292-294 3 p.

Research output: Contribution to journalArticle

Masked complex chromosome rearrangement in a child thought to have del(8qter) as the sole cytogenetic abnormality

Surace, C., Digilio, M. C., Lombardo, A., Sirleto, P., Tomaiuolo, A. C., Roberti, M. C., Capolino, R. & Angioni, A., Aug 2008, In : Cytogenetic and Genome Research. 121, 3-4, p. 215-221 7 p.

Research output: Contribution to journalArticle