OpenURL Connection Search

Select item for more details and to access through your institution.

Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH.
Published in:
Clinical Genetics, 2018, v. 93, n. 3, p. 545, doi. 10.1111/cge.13060
By:
- Vetro, A.;
- Goidin, D.;
- Lesende, I.;
- Limongelli, I.;
- Ranzani, G. N.;
- Novara, F.;
- Bonaglia, M. C.;
- Rinaldi, B.;
- Franchi, F.;
- Manolakos, E.;
- Lonardo, F.;
- Scarano, F.;
- Scarano, G.;
- Costantino, L.;
- Tedeschi, S.;
- Giglio, S.;
- Zuffardi, O.
Publication type:
Article
Identification of de novo mutations and rare variants in hypoplastic left heart syndrome.
Published in:
Clinical Genetics, 2012, v. 81, n. 6, p. 542, doi. 10.1111/j.1399-0004.2011.01674.x
By:
- Iascone, M;
- Ciccone, R;
- Galletti, L;
- Marchetti, D;
- Seddio, F;
- Lincesso, AR;
- Pezzoli, L;
- Vetro, A;
- Barachetti, D;
- Boni, L;
- Federici, D;
- Soto, AM;
- Comas, JV;
- Ferrazzi, P;
- Zuffardi, O
Publication type:
Article
Refining the phenotype associated with MEF2C haploinsufficiency.
Published in:
Clinical Genetics, 2010, v. 78, n. 5, p. 471, doi. 10.1111/j.1399-0004.2010.01413.x
By:
- Novara, F.;
- Beri, S.;
- Giorda, R.;
- Ortibus, E.;
- Nageshappa, S.;
- Darra, F.;
- dalla Bernardina, B.;
- Zuffardi, O.;
- Van Esch, H.
Publication type:
Article
Eyebrow anomalies as a diagnostic sign of genomic disorders.
Published in:
Clinical Genetics, 2010, v. 77, n. 1, p. 28, doi. 10.1111/j.1399-0004.2009.01347.x
By:
- Silengo, M.;
- Belligni, E.;
- Molinatto, C.;
- Baldassare, G.;
- Biamino, E.;
- Chiesa, N.;
- Zuffardi, O.;
- Girirajan, S.;
- Eichler, E. E.;
- Ferrero, G. B.
Publication type:
Article
Inverted duplications deletions: underdiagnosed rearrangements??
Published in:
Clinical Genetics, 2009, v. 75, n. 6, p. 505, doi. 10.1111/j.1399-0004.2009.01187.x
By:
- Zuffardi, O.;
- Bonaglia, M.;
- Ciccone, R.;
- Giorda, R.
Publication type:
Article
Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome.
Published in:
Clinical Genetics, 2007, v. 72, n. 6, p. 506, doi. 10.1111/j.1399-0004.2007.00905.x
By:
- Wieland, I.;
- Weidner, C.;
- Ciccone, R.;
- Lapi, E.;
- McDonald-McGinn, D.;
- Kress, W.;
- Jakubiczka, S.;
- Collmann, H.;
- Zuffardi, O.;
- Zackai, E.;
- Wieacker, P.
Publication type:
Article
Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH.
Published in:
Journal of Human Genetics, 2007, v. 52, n. 6, p. 535, doi. 10.1007/s10038-007-0151-4
By:
- Caselli, R.;
- Speciale, C.;
- Pescucci, C.;
- Uliana, V.;
- Sampieri, K.;
- Bruttini, M.;
- Longo, I.;
- Francesco, S.;
- Pramparo, T.;
- Zuffardi, O.;
- Frezzotti, R.;
- Acquaviva, A.;
- Hadjistilianou, T.;
- Renieri, A.;
- Mari, F.
Publication type:
Article
Agenesis of internal carotid artery and hypopituitarism: case report and review of literature.
Published in:
2012
By:
- Savasta S;
- Merli P;
- Introzzi F;
- Strocchio L;
- Lanati G;
- Incorpora G;
- Della Mina E;
- Simoncelli A;
- Zuffardi O;
- Larizza D
Publication type:
Journal Article
A newborn with ambiguous genitalia and a complex X;Y rearrangement.
Published in:
2015
By:
- Dehghani M. R.;
- Hashemian Z.;
- Zuffardi O.
Publication type:
Abstract
Testis development in the absence of SRY: chromosomal rearrangements at S0X9 and SOX3.
Published in:
2015
By:
- Dehghani M. R.;
- Zuffardi O.
Publication type:
Abstract
Screening for chromosome abnormalities by microscopic chromosome analysis: A report of 2 years study of cytogenetic results of referred candidate for prenatal diagnosis.
Published in:
Iranian Journal of Reproductive Medicine, 2013, p. 27
By:
- Dehghani, M. R.;
- Arrigo, G.;
- Hashemian, Z.;
- Zuffardi, O.
Publication type:
Article
Reply.
Published in:
Ultrasound in Obstetrics & Gynecology, 2012, v. 39, n. 5, p. 604, doi. 10.1002/uog.11159
By:
- Novelli, A.;
- Grati, F. R.;
- Ballarati, L.;
- Bernardini, L.;
- Bizzoco, D.;
- Camurri, L.;
- Casalone, R.;
- Cardarelli, L.;
- Cavalli, P.;
- Ciccone, R.;
- Clementi, M.;
- Dalprà, L.;
- Gentile, M.;
- Gelli, G.;
- Grammatico, P.;
- Malacarne, M.;
- Nardone, A. M.;
- Pecile, V.;
- Simoni, G.;
- Zuffardi, O.
Publication type:
Article
Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011.
Published in:
Ultrasound in Obstetrics & Gynecology, 2012, v. 39, n. 4, p. 384, doi. 10.1002/uog.11092
By:
- Novelli, A.;
- Grati, F. R.;
- Ballarati, L.;
- Bernardini, L.;
- Bizzoco, D.;
- Camurri, L.;
- Casalone, R.;
- Cardarelli, L.;
- Cavalli, P.;
- Ciccone, R.;
- Clementi, M.;
- Dalprà, L.;
- Gentile, M.;
- Gelli, G.;
- Grammatico, P.;
- Malacarne, M.;
- Nardone, A. M.;
- Pecile, V.;
- Simoni, G.;
- Zuffardi, O.
Publication type:
Article
Identification of two paralogous regions mapping to the short and long arms of human chromosome 2 comprising LIS1 pseudogenes.
Published in:
Cytogenetic & Genome Research, 1999, v. 86, n. 3/4, p. 225, doi. 10.1159/000015344
By:
- Fogli, A.;
- Giglio, S.;
- Arrigo, G.;
- Lo Nigro, C.;
- Zollo, M.;
- Viggiano, L.;
- Rocchi, M.;
- Archidiacono, N.;
- Zuffardi, O.;
- Carrozzo, R.
Publication type:
Article
Identification of two paralogous regions mapping to the short and long arms of human chromosome 2 comprising LIS1 pseudogenes.
Published in:
Cytogenetics & Cell Genetics, 1999, v. 86, n. 3/4, p. 225, doi. 10.1159/000015344
By:
- Fogli, A.;
- Giglio, S.;
- Arrigo, G.;
- Lo Nigro, C.;
- Zollo, M.;
- Viggiano, L.;
- Rocchi, M.;
- Archidiacono, N.;
- Zuffardi, O.;
- Carrozzo, R.
Publication type:
Article
Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B.
Published in:
Human Reproduction, 2004, v. 19, n. 12, p. 2759, doi. 10.1093/humrep/deh502
By:
- S. Bione;
- F. Rizzolio;
- C. Sala;
- R. Ricotti;
- M. Goegan;
- M.C. Manzini;
- R. Battaglia;
- A. Marozzi;
- W. Vegetti;
- L. Dalpr;
- P.G. Crosignani;
- E. Ginelli;
- R. Nappi;
- S. Bernabini;
- V. Bruni;
- F. Torricelli;
- O. Zuffardi;
- D. Toniolo
Publication type:
Article
Bone osteoblastic and mesenchymal stromal cells lack primarily tumoral features in multiple myeloma patients.
Published in:
2010
By:
- 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.
Publication type:
research
Optimization of in vitro expansion of human multipotent mesenchymal stromal cells for cell-therapy approaches: Further insights in the search for a fetal calf serum substitute.
Published in:
Journal of Cellular Physiology, 2007, v. 211, n. 1, p. 121, doi. 10.1002/jcp.20911
By:
- Bernardo, M. E.;
- Avanzini, M. A.;
- Perotti, C.;
- Cometa, A. M.;
- Moretta, A.;
- Lenta, E.;
- Del Fante, C.;
- Novara, F.;
- De Silvestri, A.;
- Amendola, G.;
- Zuffardi, O.;
- Maccario, R.;
- Locatelli, F.
Publication type:
Article
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 children with neurodevelopmental disorders and/or multiple congenital anomalies
Published in:
Italian Journal of Pediatrics, 2018, v. 44, p. 1, doi. 10.1186/s13052-018-0467-z
By:
- 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.
Publication type:
Article
Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome).
Published in:
Neurogenetics, 2009, v. 10, n. 2, p. 89, doi. 10.1007/s10048-008-0157-x
By:
- Coldren, C.;
- Lai, Z.;
- Shragg, P.;
- Rossi, E.;
- Glidewell, S.;
- Zuffardi, O.;
- Mattina, T.;
- Ivy, D.;
- Curfs, L.;
- Mattson, S.;
- Riley, E.;
- Treier, M.;
- Grossfeld, P.
Publication type:
Article
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 Rearrangement.
Published in:
Cytogenetic & Genome Research, 2013, v. 140, n. 1, p. 12, doi. 10.1159/000350868
By:
- 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.
Publication type:
Article
De novo 15.5-Mb Interstitial Deletion in 5p in a Male Ascertained by Oligospermia.
Published in:
Molecular Syndromology, 2013, v. 4, n. 5, p. 250, doi. 10.1159/000351656
By:
- Papoulidis, I.;
- Vetro, A.;
- Kefalas, K.;
- Orru, S.;
- Thomaidis, L.;
- Iliodromiti, Z.;
- Zuffardi, O.;
- Manolakos, E.
Publication type:
Article
Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype.
Published in:
Molecular Syndromology, 2010, v. 1, n. 4, p. 176, doi. 10.1159/000322054
By:
- Wischmeijer, A.;
- Magini, P.;
- Giorda, R.;
- Gnoli, M.;
- Ciccone, R.;
- Cecconi, I.;
- Franzoni, E.;
- Mazzanti, L.;
- Romeo, G.;
- Zuffardi, O.;
- Seri, M.
Publication type:
Article
Correlation between testicular tissue and H-Y phenotype in intersex patients.
Published in:
Clinical Genetics, 1983, v. 23, n. 1, p. 49, doi. 10.1111/j.1399-0004.1983.tb00437.x
By:
- Müller, U.;
- Mayerová, A.;
- Debus, B.;
- Fraccaro, M.;
- Gilgenkrantz, S.;
- Glatzl, J.;
- Madan, K.;
- Pfeiffer, R. A.;
- Prader, A.;
- Zuffardi, O.
Publication type:
Article
Chromosome 15 and Prader-Willi Syndrome.
Published in:
Clinical Genetics, 1978, v. 14, n. 5, p. 315, doi. 10.1111/j.1399-0004.1978.tb02206.x
By:
- Zuffardi, O.;
- Bühler, E. M.;
- Fraccaro, M.
Publication type:
Article

Found: 25