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Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome
Author / Creator:Bonaglia, M C ; Giorda, R ; Mani, E ; Aceti, G ; Anderlid, B-M ; Baroncini, A ; Pramparo, T ; Zuffardi, O
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2006-10, Vol.43 (10), p.822-828
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Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients
Author / Creator:De Gregori, M ; Ciccone, R ; Magini, P ; Pramparo, T ; Gimelli, S ; Messa, J ; Novara, F ; Vetro, A ; Rossi, E ; Maraschio, P ; Bonaglia, M C ; Anichini, C ; Ferrero, G B ; 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, J R ; Zuffardi, O
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2007-12, Vol.44 (12), p.750-762
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Duplications in addition to terminal deletions are present in a proportion of ring chromosomes. Clues to the mechanisms of formation
Author / Creator:Rossi, Elena ; Riegel, Mariluce ; Messa, Jole ; Gimelli, Stefania ; Maraschio, Paola ; Ciccone, Roberto ; Stroppi, Michela ; Riva, Paola ; Perrotta, Concetta ; Mattina, Teresa ; Baumer, Alessandra ; Kucinskas, Vaidutis ; Castellan, Claudio ; Schinzel, Albert ; Zuffardi, Orsetta
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2008-03, Vol.45 (3), p.147-jmg
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Functional and genetic aberrations of in vitro-cultured marrow-derived mesenchymal stromal cells of patients with classical Philadelphia-negative myeloproliferative neoplasms
Author / Creator:Avanzini, M A ; Bernardo, M E ; Novara, F ; Mantelli, M ; Poletto, V ; Villani, L ; Lenta, E ; Ingo, D M ; Achille, V ; Bonetti, E ; Massa, M ; Campanelli, R ; Fois, G ; Catarsi, P ; Gale, R P ; Moretta, A ; Aronica, A ; Maccario, R ; Acquafredda, G ; Lisini, D ; Zecca, M ; Zuffardi, O ; Locatelli, F ; Barosi, G ; Rosti, V
Publisher:London: Nature Publishing Group UK
Journal title:Leukemia, 2014-08, Vol.28 (8), p.1742-1745
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Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 child...
Author / Creator:Maini, I. ; Ivanovski, I. ; Djuric, O. ; Caraffi, S. G. ; Errichiello, E. ; Marinelli, M. ; Franchi, F. ; Bizzarri, V. ; Rosato, S. ; Pollazzon, M. ; Gelmini, C. ; Malacarne, M. ; Fusco, C. ; Gargano, G. ; Bernasconi, S. ; Zuffardi, O. ; Garavelli, L.
Publisher:England: BioMed Central
Journal title:Italian journal of pediatrics, 2018-03, Vol.44 (1), p.34-34, Article 34
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Ring syndrome: still true?
Author / Creator:Rossi, E ; Messa, J ; Zuffardi, O
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2008-11, Vol.45 (11), p.766-768
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Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis
Author / Creator:van Bon, B W M ; Koolen, D A ; Borgatti, R ; Magee, A ; Garcia-Minaur, S ; Rooms, L ; Reardon, W ; Zollino, M ; Bonaglia, M C ; De Gregori, M ; Novara, F ; Grasso, R ; Ciccone, R ; van Duyvenvoorde, H A ; Aalbers, A M ; Guerrini, R ; Fazzi, E ; Nillesen, W M ; McCullough, S ; Kant, S G ; Marcelis, C L ; Pfundt, R ; de Leeuw, N ; Smeets, D ; Sistermans, E A ; Wit, J M ; Hamel, B C ; Brunner, H G ; Kooy, F ; Zuffardi, O ; de Vries, B B A
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2008-06, Vol.45 (6), p.346-354
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Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome)
Author / Creator:Coldren, C. D. ; Lai, Z. ; Shragg, P. ; Rossi, E. ; Glidewell, S. C. ; Zuffardi, O. ; Mattina, T. ; Ivy, D. D. ; Curfs, L. M. ; Mattson, S. N. ; Riley, E. P. ; Treier, M. ; Grossfeld, P. D.
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Neurogenetics, 2009-04, Vol.10 (2), p.89-95
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Epigenetic analysis of the critical region I for premature ovarian failure: demonstration of a highly heterochromatic domain on the long arm of the mammalian X chromosome
Author / Creator:Rizzolio, F ; Pramparo, T ; Sala, C ; Zuffardi, O ; De Santis, L ; Rabellotti, E ; Calzi, F ; Fusi, F ; Bellazzi, R ; Toniolo, D
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2009-09, Vol.46 (9), p.585-592
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Partial Trisomy 2p and Partial Monosomy 2q Arising from a Paternal Intrachromosomal 2q-into-2p Between-Arm Insertion and Paracentric Inversion: Molecular Cytogenetic Characterization of a Four-Break R...
Author / Creator:Manolakos, E. ; Vetro, A. ; Papadopoulou, E. ; Kefalas, K. ; Lagou, M. ; Thomaidis, L. ; Peitsidis, P. ; Sifakis, S. ; Divane, A. ; Ziegler, M. ; Liehr, T. ; Zuffardi, O. ; Papoulidis, I.
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Cytogenetic and genome research, 2013-05, Vol.140 (1), p.12-20
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Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype
Author / Creator:Wischmeijer, A. ; Magini, P. ; Giorda, R. ; Gnoli, M. ; Ciccone, R. ; Cecconi, I. ; Franzoni, E. ; Mazzanti, L. ; Romeo, G. ; Zuffardi, O. ; Seri, M.
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Molecular syndromology, 2011-01, Vol.1 (4), p.176-184
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Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations
Author / Creator:Rossi, Elena ; Piccini, Flavia ; Zollino, Marcella ; Neri, Giovanni ; Caselli, Desirée ; Tenconi, Romano ; Castellan, Claudio ; Carrozzo, Romeo ; Danesino, Cesare ; Zuffardi, Orsetta ; Ragusa, Angela ; Castiglia, Lucia ; Galesi, Ornella ; Greco, Donatella ; Romano, Corrado ; Pierluigi, Mauro ; Perfumo, Chiara ; Di Rocco, Maia ; Faravelli, Francesca ; Bricarelli, Franca Dagna ; Bonaglia, MariaClara ; Bedeschi, MariaFrancesca ; Borgatti, Renato
Publisher:London: BMJ
Journal title:Journal of medical genetics, 2001-06, Vol.38 (6), p.417-420
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Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture
Author / Creator:Ciccone, R ; Mattina, T ; Giorda, R ; Bonaglia, M C ; Rocchi, M ; Pramparo, T ; Zuffardi, O
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2006-05, Vol.43 (5), p.e19-e19
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Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome
Author / Creator:Concolino, Daniela ; Rossi, Elena ; Strisciuglio, Pietro ; Iembo, Maria Antonietta ; Giorda, Roberto ; Ciccone, Roberto ; Tenconi, Romano ; Zuffardi, Orsetta
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2007-10, Vol.44 (10), p.647-650
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Bone osteoblastic and mesenchymal stromal cells lack primarily tumoral features in multiple myeloma patients
Author / Creator:Giuliani, N ; Lisignoli, G ; Novara, F ; Storti, P ; Zaffaroni, N ; Villa, R ; Sammarelli, G ; Agnelli, L ; Todoerti, K ; Bernardo, M E ; Manferdini, C ; Colla, S ; Abeltino, M ; Bolzoni, M ; Rocci, A ; Gabusi, E ; Palumbo, A ; Zuffardi, O ; Neri, A ; Rizzoli, V
Publisher:London: Nature Publishing Group UK
Journal title:Leukemia, 2010-07, Vol.24 (7), p.1368-1370
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Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH
Author / Creator:Caselli, R. ; Speciale, C. ; Pescucci, C. ; Uliana, V. ; Sampieri, K. ; Bruttini, M. ; Longo, I. ; De Francesco, S. ; Pramparo, T. ; Zuffardi, O. ; Frezzotti, R. ; Acquaviva, A. ; Hadjistilianou, T. ; Renieri, A. ; Mari, F.
Publisher:Tokyo: Springer Japan
Journal title:Journal of human genetics, 2007-06, Vol.52 (6), p.535-542
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Selective disruption of muscle and brain-specific BPAG1 isoforms in a girl with a 6;15 translocation, cognitive and motor delay, and tracheo-oesophageal atresia
Author / Creator:Giorda, R ; Cerritello, A ; Bonaglia, M C ; Bova, S ; Lanzi, G ; Repetti, E ; Giglio, S ; Baschirotto, C ; Pramparo, T ; Avolio, L ; Bragheri, R ; Maraschio, P ; Zuffardi, O
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2004-06, Vol.41 (6), p.e71-e71
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De novo 15.5-Mb Interstitial Deletion in 5p in a Male Ascertained by Oligospermia
Author / Creator:Papoulidis, I. ; Vetro, A. ; Kefalas, K. ; Orru, S. ; Thomaidis, L. ; Iliodromiti, Z. ; Zuffardi, O. ; Manolakos, E.
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Molecular syndromology, 2013-06, Vol.4 (5), p.250-254
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Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications
Author / Creator:Wincent, J ; Bruno, D L ; Van Bon, B W M ; Bremer, A ; Stewart, H ; Bongers, E M H F ; Ockeloen, C W ; Willemsen, M H ; Keays, D A D ; Baird, G ; Newbury, D F ; Kleefstra, T ; Marcelis, C ; Kini, U ; Stark, Z ; Savarirayan, R ; Sheffield, L J ; Zuffardi, O ; Slater, H R ; De Vries, B B ; Knight, S J L ; Anderlid, B M ; Schoumans, J
Publisher:Wuerzburg: S. Karger AG
Journal title:Molecular syndromology, 2010-01, Vol.1 (5), p.246
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Distal trisomy 6p and 20q owing to the concurrent transposition of distal 6p and 20q to the 22q telomere: a genomic polymorphism?
Author / Creator:Bonaglia, M C ; Giorda, R ; Cavallini, A ; Pramparo, T ; Rocchi, M ; Borgatti, R ; Zuffardi, O
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2003-08, Vol.40 (8), p.e94-94
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Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome

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Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients

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Duplications in addition to terminal deletions are present in a proportion of ring chromosomes. Clues to the mechanisms of formation

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Functional and genetic aberrations of in vitro-cultured marrow-derived mesenchymal stromal cells of patients with classical Philadelphia-negative myeloproliferative neoplasms

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Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 child...

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Ring syndrome: still true?

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Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis

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Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome)

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Epigenetic analysis of the critical region I for premature ovarian failure: demonstration of a highly heterochromatic domain on the long arm of the mammalian X chromosome

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Partial Trisomy 2p and Partial Monosomy 2q Arising from a Paternal Intrachromosomal 2q-into-2p Between-Arm Insertion and Paracentric Inversion: Molecular Cytogenetic Characterization of a Four-Break R...

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Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype

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Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations

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Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture

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Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome

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Bone osteoblastic and mesenchymal stromal cells lack primarily tumoral features in multiple myeloma patients

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Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH

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Selective disruption of muscle and brain-specific BPAG1 isoforms in a girl with a 6;15 translocation, cognitive and motor delay, and tracheo-oesophageal atresia

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De novo 15.5-Mb Interstitial Deletion in 5p in a Male Ascertained by Oligospermia

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Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications

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Distal trisomy 6p and 20q owing to the concurrent transposition of distal 6p and 20q to the 22q telomere: a genomic polymorphism?

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