VETRO, ANNALISA

VETRO, ANNALISA  

DIPARTIMENTO DI MEDICINA MOLECOLARE  

Mostra records
Risultati 1 - 20 di 52 (tempo di esecuzione: 0.029 secondi).
Titolo Data di pubblicazione Autore(i) File
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. 1-gen-2008 Rossi, Elena; A. P., Verri; M. G., Patricelli; V., Destefani; I., Ricca; Vetro, Annalisa; Ciccone, Roberto; R., Giorda; D., Toniolo; P., Maraschio; Zuffardi, Orsetta
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 Data Fusion Approach to Enhance Association Study in Epilepsy 1-gen-2016 Marini, Simone; Limongelli, Ivan; Rizzo, Ettore; Malovini, ALBERTO LUIGI; Errichiello, Edoardo; Vetro, Annalisa; Da, Tan; Zuffardi, Orsetta; Bellazzi, Riccardo
A fetus with ring chromosome 21 characterized by aCGH shows no clinical findings after birth. 1-gen-2010 Papoulidis, I; Manolakos, E; Siomou, E; Kefalas, K; Thomaidis, L; Liehr, T; Vetro, Annalisa; Athanasiadis, A; Zuffardi, Orsetta; Petersen, Mb
A newborn with ambiguous genitalia and a complex X;Y rearrangement. 1-gen-2014 Dehghani, M; Rossi, Elena; Vetro, Annalisa; Russo, G; Hashemian, Z; Zuffardi, Orsetta
A novel APC promoter 1B deletion shows a founder effect in Italian patients with classical familial adenomatous polyposis phenotype 1-gen-2017 Marabelli, Monica; Gismondi, Viviana; Ricci, Maria Teresa; Vetro, Annalisa; ABOU KHOUZAM, Raefa; Rea, Valentina; Vitellaro, Marco; Zuffardi, Orsetta; Varesco, Liliana; Ranzani, Guglielmina
A novel mutation in COL4A1 gene: A possible cause of early postnatal cerebrovascular events 1-gen-2015 Decio, Alice; Tonduti, Davide; Pichiecchio, Anna; Vetro, Annalisa; Ciccone, Roberto; Limongelli, Ivan; Giorda, Roberto; Caffi, Lorella; Balottin, Umberto; Zuffardi, Orsetta; Orcesi, Simona
A patient with partial trisomy 21 and 7q deletion expresses mild Down syndrome phenotype 1-gen-2014 Papoulidis, I; Papageorgiou, E; Simou, E; Oikonomidou, E; Thomaidi, L; Vetro, Annalisa; Zuffardi, Orsetta; Liehr, T; Manolakos, E; Vassilis, P.
A prenatal case of duplication with terminal deletion of 5p not identified by conventional cytogenetics. 1-gen-2008 Vetro, Annalisa; A., Iasci; B., Dal bello; Rossi, Elena; Messa, Jole; L., Montanari; S., Cesari; Zuffardi, Orsetta
An interstitial 4q31.21q31.22 microdeletion associated with developmental delay: case report and literature review. 1-gen-2014 Vlaikou, Am; Manolakos, E; Noutsopoulos, D; Markopoulos, G; Liehr, Thomas; Vetro, Annalisa; Ziegler, MARTIN BURKHARD ANDREAS; Weise, A; Kreskowski, K; Papoulidis, I; Thomaidis, L; Syrrou, M.
APC rearrangements in familial adenomatous polyposis: heterogeneity of deletion lengths and breakpoint sequences underlies similar phenotypes 1-gen-2015 Marialuisa, Quadri; Vetro, Annalisa; Viviana, Gismondi; Marabelli, Monica; Lucio, Bertario; Paola, Sala; Liliana, Varesco; Zuffardi, Orsetta; Ranzani, Guglielmina
Array technology in prenatal diagnosis 1-gen-2011 Zuffardi, Orsetta; Vetro, Annalisa; Brady, P; Vermeesch, J.
Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy. 1-gen-2011 Manolakos, E; Sarri, C; Vetro, Annalisa; Kefalas, K; Leze, E; Sofocleus, C; Kitsos, G; Merou, K; Kokotas, H; Papadopoulou, A; Attilakos, A; Petersen, Mb; Kitsiou Tzeli, S.
Complex rearrangement involving three chromosomes, four breakpoints and a 2.7-Mb deletion in the 18q segment observed in a girl with mild learning difficulties 1-gen-2016 Kontodiou, M. 1; Daskalakis, G; Vetro, Annalisa; Paspaliaris, V.; Papaioannou, G; Dagklis, T; Tsakiridis, I; Ziegler, MARTIN BURKHARD ANDREAS; Liehr, Thomas; Thomaidis, L; Papoulidis, I; Manolakos,
Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome 1-gen-2014 Beuschlein, F; Fassnacht, M; Asiè, G; Calebiro, D; Stratakis, Ca; Osswald, A; Ronchi, Cl; Wieland, T; Sbiera, S; Faucz, Fr; Schaak, K; Schmittfull, A; Schwarmayr, T; Barreau, O; Vezzosi, D; Rizk Rabin, M; Zabel, U; Szarek, E; Salpea, P; Forlino, Antonella; Vetro, Annalisa; Zuffardi, Orsetta; Kisker, C; Diener, S; Maitinger, T; Lohse, Mj; Reincke, M; Berherat, J; Strom, Tm; Allolio, B.
Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus 1-gen-2007 Torniero, C.; dalla Bernardina, B.; Novara, Francesca; Vetro, Annalisa; Ricca, Ivana; Darra, F.; Pramparo, T.; Guerrini, R.; Zuffardi, Orsetta
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
Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post-array CGH era? 1-gen-2011 Bui, Th; Vetro, Annalisa; Zuffardi, Orsetta; Shaffer, Lg
De novo 15.5-Mb Interstitial Deletion in 5p in a Male Ascertained by Oligospermia. 1-gen-2013 I., Papoulidis; Vetro, Annalisa; K., Kefalas; S., Orru; L., Thomaidis; Z., Iliodromiti; Zuffardi, Orsetta; E., Manolakos
Deletion 2q31.2-q31.3 in a 4 year old girl with microcephaly and severe mental retardation 1-gen-2011 Manolakos, E; Vetro, Annalisa; Kefalas, K; Thomaidis, L; Aperis, G; Sotiriou, S; Kitsos, G; Merkas, M; Sifakis, S; Papoulidis, I; Liehr, T; Zuffardi, Orsetta; Petersen, Mb