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Pubblicazioni Scientifiche:
Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome. Bonaglia MC, Giorda R, Beri S, De Agostini C, Novara F, Fichera M, Grillo L, Galesi O, Vetro A, Ciccone R, Bonati MT, Giglio S, Guerrini R, Osimani S, Marelli S, Zucca C, Grasso R, Borgatti R, Mani E, Motta C, Molteni M, Romano C, Greco D, Reitano S, Baroncini A, Lapi E, Cecconi A, Arrigo G, Patricelli MG, Pantaleoni C, D'Arrigo S, Riva D, Sciacca F, Dalla Bernardina B, Zoccante L, Darra F, Termine C, Maserati E, Bigoni S, Priolo E, Bottani A, Gimelli S, Bena F, Brusco A, di Gregorio E, Bagnasco, Giussani U, Nitsch L, Politi P, Martinez-Frias ML, Martínez-Fernández ML, Martínez Guardia N, Bremer A, Anderlid BM, Zuffardi O; PLoS Genet 7(7): e1002173. doi:10.1371/journal.pgen.1002173
XX males SRY negative: a confirmed cause of infertility. Vetro A, Ciccone R, Giorda R, Patricelli MG, Della Mina E, Forlino A, Zuffardi O. J Med Genet. 2011 Oct;48(10):710-2
Deletion 2q31.2-q31.3 in a 4-year-old girl with microcephaly and severe mental retardation. Manolakos E, Vetro A, Kefalas K, Thomaidis L, Aperis G, Sotiriou S, Kitsos G, Merkas M, Sifakis S, Papoulidis I, Liehr T, Zuffardi O, Petersen MB. Am J Med Genet A. 2011 Jun;155A(6):1476-82.
Identification of de novo mutations and rare variants in hypoplastic left heart syndrome. Iascone M, Ciccone R, Galletti L, Marchetti D, Seddio F, Lincesso A, Pezzoli L, Vetro A, Barachetti D, Boni L, Federici D, Soto A, Comas J, Ferrazzi P, Zuffardi O. Clin Genet. 2011 Apr 1. doi: 10.1111/j.1399-0004.2011.01674.x. [Epub ahead of print]
Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post-array CGH era? Bui TH, Vetro A, Zuffardi O, Shaffer LG. Prenat Diagn. 2011 Mar;31(3):235-43. doi: 10.1002/pd.2722. Epub 2011 Feb 10. Review.
Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy. Manolakos E, Sarri C, Vetro A, Kefalas K, Leze E, Sofocleus C, Kitsos G, Merou K, Kokotas H, Papadopoulou A, Attilakos A, Petersen MB, Kitsiou-Tzeli S. Mol Cytogenet. 2011 Feb 23;4(1):6.
The phenotype of recurrent 10q22q23 deletions and duplications. van Bon BW, Balciuniene J, Fruhman G, Nagamani SC, Broome DL, Cameron E, Martinet D, Roulet E, Jacquemont S, Beckmann JS, Irons M, Potocki L, Lee B, Cheung SW, Patel A, Bellini M, Selicorni A, Ciccone R, Silengo M, Vetro A, Knoers NV, de Leeuw N, Pfundt R, Wolf B, Jira P, Aradhya S, Stankiewicz P, Brunner HG, Zuffardi O, Selleck SB, Lupski JR, de Vries BB. Eur J Hum Genet. 2011 Apr;19(4):400-8.
Array technology in prenatal diagnosis. Zuffardi O, Vetro A, Brady P, Vermeesch J. Semin Fetal Neonatal Med. 2011 Apr;16(2):94-8. Epub 2011 Jan 5. Review.
The use of array-CGH in a cohort of Greek children with developmental delay. Manolakos E, Vetro A, Kefalas K, Rapti SM, Louizou E, Garas A, Kitsos G, Vasileiadis L, Tsoplou P, Eleftheriades M, Peitsidis P, Orru S, Liehr T, Petersen MB, Thomaidis L. Mol Cytogenet. 2010 Nov 9;3:22.
A fetus with ring chromosome 21 characterized by aCGH shows no clinical findings after birth.
Papoulidis I, Manolakos E, Siomou E, Kefalas K, Thomaidis L, Liehr T, Vetro A, Athanasiadis A, Zuffardi O, Petersen MB. Prenat Diagn. 2010 Jun;30(6):586-8.
High-resolution genome-wide array comparative genomic hybridization in splenic marginal zone B-cell lymphoma. Novara F, Arcaini L, Merli M, Passamonti F, Zibellini S, Rizzi S, Rattotti S, Rumi E, Pascutto C, Vetro A, Astori C, Boveri E, Lucioni M, Paulli M, Zuffardi O, Lazzarino M. Hum Pathol. 2009 Nov;40(11):1628-37.
Prenatal diagnosis of a fetus with ring chromosome 15 characterized by array-CGH. Manolakos E, Vetro A, Kitmirides S, Papoulidis I, Kosyakova N, Mrasek K, Weise A, Agapitos E, Orru S, Peitsidis P, Liehr T, Petersen MB. Prenat Diagn. 2009 Sep;29(9):884-8.
Multiple joint dislocations: an additional skeletal finding in Lowry-Wood syndrome? Magnani C, Tedesco SA, Dallaglio S, Sommi M, Bacchini E, Vetro A, Zuffardi O, Bevilacqua G. Am J Med Genet A. 2009 Feb 15;149A(4):737-41.
A prenatal case of duplication with terminal deletion of 5p not identified by conventional cytogenetics. Vetro A, Iasci A, Dal Bello B, Rossi E, Messa J, Montanari L, Cesari S, Zuffardi O.
Prenat Diagn. 2008 Dec;28(12):1171-3.
Expanding the phenotype of 22q13.3 deletion: report of a case detected prenatally. Maitz S, Gentilin B, Colli AM, Rizzuti T, Brandolisio E, Vetro A, Zuffardi O, Guerneri S, Lalatta F. Prenat Diagn. 2008 Oct;28(10):978-80.
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. Rossi E, Verri AP, Patricelli MG, Destefani V, Ricca I, Vetro A, Ciccone R, Giorda R, Toniolo D, Maraschio P, Zuffardi O. Eur J Med Genet. 2008 Nov-Dec;51(6):631-8.
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome
rearrangements: a study of 59 patients. De Gregori M, Ciccone R, Magini P, Pramparo T, Gimelli S, Messa J, Novara F, Vetro A, Rossi E, Maraschio P, Bonaglia MC, Anichini C, Ferrero GB, Silengo M, Fazzi E, Zatterale A, Fischetto R, Previderé C, Belli S, Turci A, Calabrese G, Bernardi F, Meneghelli E, Riegel M, Rocchi M, Guerneri S, Lalatta F, Zelante L, Romano C, Fichera M, Mattina T, Arrigo G, Zollino M, Giglio S, Lonardo F, Bonfante A, Ferlini A, Cifuentes F, Van Esch H, Backx L, Schinzel A, Vermeesch JR, Zuffardi O. J Med Genet. 2007 Dec;44(12):750-62.
Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus. Torniero C, dalla Bernardina B, Novara F, Vetro A, Ricca I, Darra F, Pramparo T, Guerrini R, Zuffardi O. Eur J Hum Genet. 2007 Jan;15(1):62-7.
Partecipazioni a congressi e abstracts:
13-16 Novembre 2011 - Milano
XIV Congresso Nazionale Società Italiana di Genetica Umana (SIGU) - Invited speaker
The futility of the Y chromosome: how to become men in the absence of SRY
2-5 Luglio 2011 - Porto, Portogallo
8th European Cytogenetics Conference
Poster: “Amplification of a catalytic subunit of the cAMP protein kinase (PRKACB) in a patient with myxomas, acromegaly and unusual cutaneous pigmentation”
Vetro A, Forlino A, Ciccone R, Garavelli L, Della Mina E, Rossi A, Nadella K, Nesterova M, Horvath A,
Levy A, Giglio S, Capozzi O, Rocchi M, Stratakis AC, Zuffardi O
Poster Prize for the session “Chromosomes and Cancer”
21-22 giugno 2010 - Genova
Relatore al
“Corso avanzato di citogenetica costituzionale: dal cariotipo convenzionale a quello molecolare”
Società Italiana di Genetica Umana (SIGU)
E.O. Ospedali Galliera - Genova
24th-27th March 2009
Genomic Disorders 2010 – Copy Number and Sequence Variation in Mendelian and Complex Traits
Wellcome Trust Conference Centre, Hinxton, Cambridge, UK
Poster: “A 3.7 Mb duplication region at Xq13.2q21.1 associates with growth hormone deficit in males”
A. Vetro, E. Manolakos, Z. Borochowitz, L. Bernardini, G. Zampino, B. Dallapiccola, A. Capalbo, F. Collins, E. Bongers, J. Drabova, R. Ciccone, O. Zuffardi
8-10 Novembre 2009 – Torino
XII Congresso SIGU (Società Italiana Genetica Umana)
Comunicazione orale: “Una regione di 3.7 Mb duplicata in Xq13.2q21.1 si associa a bassa statura e deficit di ormone della crescita in pazienti maschi” A. Vetro, E. Manolakos, Z. Borochowitz, L. Bernardini, G. Zampino, B. Dallapiccola, A. Capalbo, F. Collins, E. M. Bongers, R. Ciccone, O. Zuffardi
4-7 July 2009 – Stockholm (Sweden)
7° Congresso ECA (European Cytogeneticists Association)
Oral communication: “Genome wide array analysis in prenatal diagnosis: preliminary results of oligo array-CGH analysis on fetuses with normal or abnormal karyotype and echographic abnormalities”
A. Vetro, F. Lalatta, E. Rossi, J. Messa, M. Dioli, A. Pettinari, M. Manolakos, G. Croci, F. Franchi, O. Zuffardi
27-30 Maggio 2009 – Sorrento (NA)
33° Congresso SIE (Società Italiana Endocrinologia) - Invited speaker
“Comparative Genomic Hybridization Array - A. Vetro (PV)”
17-18 Aprile 2009 – Associazione Oasi Maria SS. (IRCCS), Troina (EN)
5° International Meeting on Cryptic Chromosomal Rearrangements in Mental Retardation and Autism
Oral communication: “A 6 Mb duplication region at Xq13.2q21.1 associates with growth hormone deficit in males” A. Vetro, E. Manolakos, Z. Borochowitz, L. Bernardini, G. Zampino, B. Dallapiccola, A. Capalbo, R. Ciccone, O. Zuffardi
23-23 Novembre 2008 – Genova
XI Congresso SIGU (Società Italiana Genetica Umana)
Comunicazione orale: “Risultati preliminari di analisi array-CGH eseguite su villi coriali e/o liquidi amniotici di gravidanze con anomalie ecografiche e su aborti spontanei” A. Vetro, F. Lalatta, S. Guerneri, S. Maitz, A. Pettinari, E. Rossi, O. Zuffardi (Premio SIGU 2008 giovani ricercatori per la sessione di Citogenetica)
Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome. Bonaglia MC, Giorda R, Beri S, De Agostini C, Novara F, Fichera M, Grillo L, Galesi O, Vetro A, Ciccone R, Bonati MT, Giglio S, Guerrini R, Osimani S, Marelli S, Zucca C, Grasso R, Borgatti R, Mani E, Motta C, Molteni M, Romano C, Greco D, Reitano S, Baroncini A, Lapi E, Cecconi A, Arrigo G, Patricelli MG, Pantaleoni C, D'Arrigo S, Riva D, Sciacca F, Dalla Bernardina B, Zoccante L, Darra F, Termine C, Maserati E, Bigoni S, Priolo E, Bottani A, Gimelli S, Bena F, Brusco A, di Gregorio E, Bagnasco, Giussani U, Nitsch L, Politi P, Martinez-Frias ML, Martínez-Fernández ML, Martínez Guardia N, Bremer A, Anderlid BM, Zuffardi O; PLoS Genet 7(7): e1002173. doi:10.1371/journal.pgen.1002173
XX males SRY negative: a confirmed cause of infertility. Vetro A, Ciccone R, Giorda R, Patricelli MG, Della Mina E, Forlino A, Zuffardi O. J Med Genet. 2011 Oct;48(10):710-2
Deletion 2q31.2-q31.3 in a 4-year-old girl with microcephaly and severe mental retardation. Manolakos E, Vetro A, Kefalas K, Thomaidis L, Aperis G, Sotiriou S, Kitsos G, Merkas M, Sifakis S, Papoulidis I, Liehr T, Zuffardi O, Petersen MB. Am J Med Genet A. 2011 Jun;155A(6):1476-82.
Identification of de novo mutations and rare variants in hypoplastic left heart syndrome. Iascone M, Ciccone R, Galletti L, Marchetti D, Seddio F, Lincesso A, Pezzoli L, Vetro A, Barachetti D, Boni L, Federici D, Soto A, Comas J, Ferrazzi P, Zuffardi O. Clin Genet. 2011 Apr 1. doi: 10.1111/j.1399-0004.2011.01674.x. [Epub ahead of print]
Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post-array CGH era? Bui TH, Vetro A, Zuffardi O, Shaffer LG. Prenat Diagn. 2011 Mar;31(3):235-43. doi: 10.1002/pd.2722. Epub 2011 Feb 10. Review.
Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy. Manolakos E, Sarri C, Vetro A, Kefalas K, Leze E, Sofocleus C, Kitsos G, Merou K, Kokotas H, Papadopoulou A, Attilakos A, Petersen MB, Kitsiou-Tzeli S. Mol Cytogenet. 2011 Feb 23;4(1):6.
The phenotype of recurrent 10q22q23 deletions and duplications. van Bon BW, Balciuniene J, Fruhman G, Nagamani SC, Broome DL, Cameron E, Martinet D, Roulet E, Jacquemont S, Beckmann JS, Irons M, Potocki L, Lee B, Cheung SW, Patel A, Bellini M, Selicorni A, Ciccone R, Silengo M, Vetro A, Knoers NV, de Leeuw N, Pfundt R, Wolf B, Jira P, Aradhya S, Stankiewicz P, Brunner HG, Zuffardi O, Selleck SB, Lupski JR, de Vries BB. Eur J Hum Genet. 2011 Apr;19(4):400-8.
Array technology in prenatal diagnosis. Zuffardi O, Vetro A, Brady P, Vermeesch J. Semin Fetal Neonatal Med. 2011 Apr;16(2):94-8. Epub 2011 Jan 5. Review.
The use of array-CGH in a cohort of Greek children with developmental delay. Manolakos E, Vetro A, Kefalas K, Rapti SM, Louizou E, Garas A, Kitsos G, Vasileiadis L, Tsoplou P, Eleftheriades M, Peitsidis P, Orru S, Liehr T, Petersen MB, Thomaidis L. Mol Cytogenet. 2010 Nov 9;3:22.
A fetus with ring chromosome 21 characterized by aCGH shows no clinical findings after birth.
Papoulidis I, Manolakos E, Siomou E, Kefalas K, Thomaidis L, Liehr T, Vetro A, Athanasiadis A, Zuffardi O, Petersen MB. Prenat Diagn. 2010 Jun;30(6):586-8.
High-resolution genome-wide array comparative genomic hybridization in splenic marginal zone B-cell lymphoma. Novara F, Arcaini L, Merli M, Passamonti F, Zibellini S, Rizzi S, Rattotti S, Rumi E, Pascutto C, Vetro A, Astori C, Boveri E, Lucioni M, Paulli M, Zuffardi O, Lazzarino M. Hum Pathol. 2009 Nov;40(11):1628-37.
Prenatal diagnosis of a fetus with ring chromosome 15 characterized by array-CGH. Manolakos E, Vetro A, Kitmirides S, Papoulidis I, Kosyakova N, Mrasek K, Weise A, Agapitos E, Orru S, Peitsidis P, Liehr T, Petersen MB. Prenat Diagn. 2009 Sep;29(9):884-8.
Multiple joint dislocations: an additional skeletal finding in Lowry-Wood syndrome? Magnani C, Tedesco SA, Dallaglio S, Sommi M, Bacchini E, Vetro A, Zuffardi O, Bevilacqua G. Am J Med Genet A. 2009 Feb 15;149A(4):737-41.
A prenatal case of duplication with terminal deletion of 5p not identified by conventional cytogenetics. Vetro A, Iasci A, Dal Bello B, Rossi E, Messa J, Montanari L, Cesari S, Zuffardi O.
Prenat Diagn. 2008 Dec;28(12):1171-3.
Expanding the phenotype of 22q13.3 deletion: report of a case detected prenatally. Maitz S, Gentilin B, Colli AM, Rizzuti T, Brandolisio E, Vetro A, Zuffardi O, Guerneri S, Lalatta F. Prenat Diagn. 2008 Oct;28(10):978-80.
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. Rossi E, Verri AP, Patricelli MG, Destefani V, Ricca I, Vetro A, Ciccone R, Giorda R, Toniolo D, Maraschio P, Zuffardi O. Eur J Med Genet. 2008 Nov-Dec;51(6):631-8.
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome
rearrangements: a study of 59 patients. De Gregori M, Ciccone R, Magini P, Pramparo T, Gimelli S, Messa J, Novara F, Vetro A, Rossi E, Maraschio P, Bonaglia MC, Anichini C, Ferrero GB, Silengo M, Fazzi E, Zatterale A, Fischetto R, Previderé C, Belli S, Turci A, Calabrese G, Bernardi F, Meneghelli E, Riegel M, Rocchi M, Guerneri S, Lalatta F, Zelante L, Romano C, Fichera M, Mattina T, Arrigo G, Zollino M, Giglio S, Lonardo F, Bonfante A, Ferlini A, Cifuentes F, Van Esch H, Backx L, Schinzel A, Vermeesch JR, Zuffardi O. J Med Genet. 2007 Dec;44(12):750-62.
Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus. Torniero C, dalla Bernardina B, Novara F, Vetro A, Ricca I, Darra F, Pramparo T, Guerrini R, Zuffardi O. Eur J Hum Genet. 2007 Jan;15(1):62-7.
Partecipazioni a congressi e abstracts:
13-16 Novembre 2011 - Milano
XIV Congresso Nazionale Società Italiana di Genetica Umana (SIGU) - Invited speaker
The futility of the Y chromosome: how to become men in the absence of SRY
2-5 Luglio 2011 - Porto, Portogallo
8th European Cytogenetics Conference
Poster: “Amplification of a catalytic subunit of the cAMP protein kinase (PRKACB) in a patient with myxomas, acromegaly and unusual cutaneous pigmentation”
Vetro A, Forlino A, Ciccone R, Garavelli L, Della Mina E, Rossi A, Nadella K, Nesterova M, Horvath A,
Levy A, Giglio S, Capozzi O, Rocchi M, Stratakis AC, Zuffardi O
Poster Prize for the session “Chromosomes and Cancer”
21-22 giugno 2010 - Genova
Relatore al
“Corso avanzato di citogenetica costituzionale: dal cariotipo convenzionale a quello molecolare”
Società Italiana di Genetica Umana (SIGU)
E.O. Ospedali Galliera - Genova
24th-27th March 2009
Genomic Disorders 2010 – Copy Number and Sequence Variation in Mendelian and Complex Traits
Wellcome Trust Conference Centre, Hinxton, Cambridge, UK
Poster: “A 3.7 Mb duplication region at Xq13.2q21.1 associates with growth hormone deficit in males”
A. Vetro, E. Manolakos, Z. Borochowitz, L. Bernardini, G. Zampino, B. Dallapiccola, A. Capalbo, F. Collins, E. Bongers, J. Drabova, R. Ciccone, O. Zuffardi
8-10 Novembre 2009 – Torino
XII Congresso SIGU (Società Italiana Genetica Umana)
Comunicazione orale: “Una regione di 3.7 Mb duplicata in Xq13.2q21.1 si associa a bassa statura e deficit di ormone della crescita in pazienti maschi” A. Vetro, E. Manolakos, Z. Borochowitz, L. Bernardini, G. Zampino, B. Dallapiccola, A. Capalbo, F. Collins, E. M. Bongers, R. Ciccone, O. Zuffardi
4-7 July 2009 – Stockholm (Sweden)
7° Congresso ECA (European Cytogeneticists Association)
Oral communication: “Genome wide array analysis in prenatal diagnosis: preliminary results of oligo array-CGH analysis on fetuses with normal or abnormal karyotype and echographic abnormalities”
A. Vetro, F. Lalatta, E. Rossi, J. Messa, M. Dioli, A. Pettinari, M. Manolakos, G. Croci, F. Franchi, O. Zuffardi
27-30 Maggio 2009 – Sorrento (NA)
33° Congresso SIE (Società Italiana Endocrinologia) - Invited speaker
“Comparative Genomic Hybridization Array - A. Vetro (PV)”
17-18 Aprile 2009 – Associazione Oasi Maria SS. (IRCCS), Troina (EN)
5° International Meeting on Cryptic Chromosomal Rearrangements in Mental Retardation and Autism
Oral communication: “A 6 Mb duplication region at Xq13.2q21.1 associates with growth hormone deficit in males” A. Vetro, E. Manolakos, Z. Borochowitz, L. Bernardini, G. Zampino, B. Dallapiccola, A. Capalbo, R. Ciccone, O. Zuffardi
23-23 Novembre 2008 – Genova
XI Congresso SIGU (Società Italiana Genetica Umana)
Comunicazione orale: “Risultati preliminari di analisi array-CGH eseguite su villi coriali e/o liquidi amniotici di gravidanze con anomalie ecografiche e su aborti spontanei” A. Vetro, F. Lalatta, S. Guerneri, S. Maitz, A. Pettinari, E. Rossi, O. Zuffardi (Premio SIGU 2008 giovani ricercatori per la sessione di Citogenetica)
