IRIS

MARASCHIO, PAOLA

MARASCHIO, PAOLA  

DIPARTIMENTO DI PATOLOGIA UMANA ED EREDITARIA (attivo dal 01/01/1900 al 28/02/2011)  

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A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 1-gen-2008 Rossi, Elena; Verri, Ap; Patricelli, Mg; Destefani, V; Ricca, Ivana; Vetro, Annalisa; Ciccone, Roberto; Giorda, R; Toniolo, D; Maraschio, Paola; Zuffardi, Orsetta
A dominantly inherited syndrome (microcephaly, short stature, peculiar facies, mental retardation) associated with two balanced rearrangements involving chromosome 2;7 and 5;20 1-gen-1988 Vivarelli, R; Zuffardi, Orsetta; Maraschio, Paola; Anichini, C; Scarinci, R.
A liveborn 69,XXX triploid. Origin, X chromosome activity and gene dosage 1-gen-1984 Maraschio, Paola; Danesino, Cesare; LO CURTO, Francesco; Zuffardi, Orsetta; Dalla Fior, T; Pedrotti, D.
A new chromosome instability disorder 1-gen-1986 Maraschio, Paola; Peretti, Diletta; Lambiase, Simonetta; LO CURTO, Francesco; Caufin, D.; Gargantini, L.; Minoli, Lorenzo; Zuffardi, Orsetta
A novel mechnaism for the origin of supernumerary marker chromosomes 1-gen-1996 Maraschio, Paola; Tupler, R; Rossi, Elena; Barbierato, L; Uccellatore, F; Rocchi, M; Zuffardi, Orsetta; Fraccaro, Marco
A novel mutation and novel features in Nijmegen breakage syndrome. 1-gen-2001 Maraschio, Paola; Danesino, Cesare; Antoccia, A; Ricordy, R; Tanzarella, C; Varon, R; Reis, A; Besana, D; Guala, A; Tiepolo, Luciano
A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity 1-gen-1997 Tupler, R.; Marseglia, GIAN LUIGI; Stefanini, M.; Prosperi, E.; Chessa, L.; Nardo, T.; Marchi, Antonietta; Maraschio, Paola
Alternate centromere inactivation in a pseudodicentric (15;20) associated with a progressive neurological disorder 1-gen-1989 Rivera, H; Zuffardi, Orsetta; Maraschio, Paola; Caiulo, A; Anichini, C; Scarinci, R; Vivarelli, R.
Anticentroameric antibodies and inactive centromeres 1-gen-1996 Zuffardi, Orsetta; Maraschio, Paola; Peretti, Diletta; Lambiase, Simonetta; LO CURTO, Francesco
Cd bands and centromeric function in dicentric chromosomes 1-gen-1980 Maraschio, Paola; Zuffardi, Orsetta; LO CURTO, Francesco
Chromosome 10p deletion in a patient with hypoparathyroidism , severe mental reterdation, autism and basal ganglia clacifications 1-gen-2004 Verri, A. P.; Maraschio, Paola; Devriendt, K.; Uggetti, C.; Spadoni, E.; Haeusler, E.; Federico, A.
Chromosome abnormalities and male sterility 1-gen-1975 Zuffardi, Orsetta; Maraschio, Paola; Pasquali, Francesco
Chromosome abnormalities in lymphocytes and fibroblasts of subjects with multiple endocrine neoplasia type 1. 1-gen-1991 Scappaticci, MARIA ASSUNTA; Maraschio, Paola; del Ciotto, N; Fossati, Gs; Zonta, Aris; Fraccaro, Marco
Chromosome instability and nibrin protein variants in NBS heterozygotes. 1-gen-2003 Tanzarella, C; Antoccia, A; Spadoni, E; di Masi, A; Pecile, V; Demori, E; Varon, R; Marseglia, GIAN LUIGI; Tiepolo, Luciano; Maraschio, Paola
Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphisms (ICF syndrome). 1-gen-2008 Mm, Hagleitner; A., Lankester; Maraschio, Paola; M., Hultèn; Jp, Fryns; C., Schuetz; G., Gimelli; Eg, Davies; A., Gennery; Bh, Belohradsky; R., de Root; Eja, Gerritse; T., Mattina; Pj, Howard; A., Fasth; I., Reisli; D., Further; Ma, Slatter; Aj, Cant; G., Cazzola; PJ van, Dijken; IM van, Deuren; JC de, Greef; SM van der, Maarel; Cmr, Weemaes
Comment on: Corpus callosum hypoplasia and associated brain anomalies in Nijmegen breakage syndrome. 1-gen-2002 Maraschio, Paola; Danesino, Cesare; Varon, R; Tiepolo, Luciano
Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. 1-gen-1989 Ballabio, A; Andria, G; Carrozzo, R; Persico, G; Bick, D; Campbell, L; Ropers, Hh; FERGUSON SMITH, Ma; Gimelli, G; Fraccaro, M; Maraschio, Paola; Zuffardi, Orsetta; Bardoni, B; Guioli, S; Camerino, Giovanna
Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 cases. 1-gen-2007 DE GREGORI, M.; Ciccone, Roberto; Magini, P.; Pramparo, T.; Gimelli, S.; Messa, J.; Novara, Francesca; Vetro, Annalisa; Rossi, Elena; Maraschio, Paola; Bonaglia, M. C.; Anichini, C.; Ferrero, G. B.; Silengo, M.; Fazzi, E.; Zatterale, A.; Fischetto, R.; Previdere', Carlo; 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.; LO NARDO, F.; Bonfante, A.; Ferlini, A.; Cifuentes, F.; VAN ESCH, H.; Backx, L.; Schinzel, A.; Vermeesch, J. R.; Zuffardi, Orsetta
Cytogenetic of multiple endocrine neoplasia syndromes. I. Two different, unique clonal chromosome changes in a medullary thyroid carcinoma and in a C-cell thyroid hyperplasia. 1-gen-1992 Scappaticci, MARIA ASSUNTA; Arrigoni, G; Capra, E; Maraschio, Paola; Fraccaro, Marco
Cytogenetics of multiple endocrine neoplasia syndrome. II. Chromosome abnormalities in an insulinoma and a Glaucoma from two subjects with MEN1. 1-gen-1992 Scappaticci, MARIA ASSUNTA; Brandi, Ml; Capra, E; Cortinovis, M; Maraschio, Paola; Fraccaro, Marco