(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome: a paradigm for genomic medicine
Mussa, A., Russo, S., Larizza, L., Riccio, A., Ferrero, G.B.
Published in Clinical genetics (01.04.2016)
Published in Clinical genetics (01.04.2016)
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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, 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
Published in Journal of medical genetics (01.12.2007)
Published in Journal of medical genetics (01.12.2007)
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Case report: Gastroenterological management in a case of cardio-facio-cutaneous syndrome
Ciacchini, B, Di Nardo, G, Marin, M, Borali, E, Caraccia, M, Mogni, R, Cairello, F, Rabbone, I, Ferrero, G B, Pini Prato, A, Felici, E
Published in Frontiers in pediatrics (17.04.2023)
Published in Frontiers in pediatrics (17.04.2023)
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Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes
Di Gregorio, E., Riberi, E., Belligni, E.F., Biamino, E., Spielmann, M., Ala, U., Calcia, A., Bagnasco, I., Carli, D., Gai, G., Giordano, M., Guala, A., Keller, R., Mandrile, G., Arduino, C., Maffè, A., Naretto, V.G., Sirchia, F., Sorasio, L., Ungari, S., Zonta, A., Zacchetti, G., Talarico, F., Pappi, P., Cavalieri, S., Giorgio, E., Mancini, C., Ferrero, M., Brussino, A., Savin, E., Gandione, M., Pelle, A., Giachino, D.F., De Marchi, M., Restagno, G., Provero, P., Cirillo Silengo, M., Grosso, E., Buxbaum, J.D., Pasini, B., De Rubeis, S., Brusco, A., Ferrero, G.B.
Published in Clinical genetics (01.10.2017)
Published in Clinical genetics (01.10.2017)
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Prenatal features of Noonan syndrome: prevalence and prognostic value
Baldassarre, G., Mussa, A., Dotta, A., Banaudi, E., Forzano, S., Marinosci, A., Rossi, C., Tartaglia, M., Silengo, M., Ferrero, G. B.
Published in Prenatal diagnosis (01.10.2011)
Published in Prenatal diagnosis (01.10.2011)
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Fetal growth patterns in Beckwith-Wiedemann syndrome
Mussa, A., Russo, S., de Crescenzo, A., Freschi, A., Calzari, L., Maitz, S., Macchiaiolo, M., Molinatto, C., Baldassarre, G., Mariani, M., Tarani, L., Bedeschi, M.F., Milani, D., Melis, D., Bartuli, A., Cubellis, M.V., Selicorni, A., Silengo, M.C., Larizza, L., Riccio, A., Ferrero, G.B.
Published in Clinical genetics (01.07.2016)
Published in Clinical genetics (01.07.2016)
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Brain Abnormalities in Patients with Germline Variants in H3F3 : Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors
Alves, C A P F, Sherbini, O, D'Arco, F, Steel, D, Kurian, M A, Radio, F C, Ferrero, G B, Carli, D, Tartaglia, M, Balci, T B, Powell-Hamilton, N N, Schrier Vergano, S A, Reutter, H, Hoefele, J, Günthner, R, Roeder, E R, Littlejohn, R O, Lessel, D, Lüttgen, S, Kentros, C, Anyane-Yeboa, K, Catarino, C B, Mercimek-Andrews, S, Denecke, J, Lyons, M J, Klopstock, T, Bhoj, E J, Bryant, L, Vanderver, A
Published in American journal of neuroradiology : AJNR (01.07.2022)
Published in American journal of neuroradiology : AJNR (01.07.2022)
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Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth
Cecconi, M., Forzano, F., Milani, D., Cavani, S., Baldo, C., Selicorni, A., Pantaleoni, C., Silengo, M., Ferrero, G.B., Scarano, G., Della Monica, M., Fischetto, R., Grammatico, P., Majore, S., Zampino, G., Memo, L., Cordisco, E. Lucci, Neri, G., Pierluigi, M., Bricarelli, F. Dagna, Grasso, M., Faravelli, Francesca
Published in American journal of medical genetics. Part A (30.04.2005)
Published in American journal of medical genetics. Part A (30.04.2005)
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Eyebrow anomalies as a diagnostic sign of genomic disorders
Silengo, M, Belligni, E, Molinatto, C, Baldassare, G, Biamino, E, Chiesa, N, Zuffardi, O, Girirajan, S, Eichler, EE, Ferrero, GB
Published in Clinical genetics (01.01.2010)
Published in Clinical genetics (01.01.2010)
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A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13
Morgan, N V, Bacchelli, C, Gissen, P, Morton, J, Ferrero, G B, Silengo, M, Labrune, P, Casteels, I, Hall, C, Cox, P, Kelly, D A, Trembath, R C, Scambler, P J, Maher, E R, Goodman, F R, Johnson, C A
Published in Journal of medical genetics (01.06.2003)
Published in Journal of medical genetics (01.06.2003)
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An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3-Xp21.3
Ferrero, G B, Franco, B, Roth, E J, Firulli, B A, Borsani, G, Delmas-Mata, J, Weissenbach, J, Halley, G, Schlessinger, D, Chinault, A C, Zoghbi, H Y, Nelson, D L, Ballabio, A
Published in Human molecular genetics (01.10.1995)
Published in Human molecular genetics (01.10.1995)
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S265: RADIOMICS AND ARTIFICIAL INTELLIGENCE FOR IDENTIFICATION AND MONITORING OF SILENT CEREBRAL INFARCTS IN SICKLE CELL DISEASE: FIRST ANALYSIS FROM THE GENOMED4ALL EUROPEAN PROJECT
Boaro, M. P., Biondi, R., Biondini, N., Collado Gimbert, A., JM, E. F., Pinto, V., Romano, N., Voi, V., Ferrero, G. B., Casale, M., Cirillo, M., Palazzi, G., Cavalleri, F., Forni, G. L., Reggiani, G., Perrotta, S., Manu Pereira, M., Zazo, S., Marias, K., De Montalembert, M., Bartolucci, P., Beers, E., Alvarez, F., Cremonesi, F., Sanavia, T., Fariselli, P., Castellani, G., Manara, R., Colombatti, R.
Published in HemaSphere (01.06.2022)
Published in HemaSphere (01.06.2022)
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A Submicroscopic Deletion in Xq26 Associated with Familial Situs Ambiguus
Ferrero, Giovanni B., Gebbia, Marinella, Pilia, Giuseppe, Witte, David, Peier, Andrea, Hopkin, Robert J., Craigen, William J., Shaffer, Lisa G., Schlessinger, David, Ballabio, Andrea, Casey, Brett
Published in American journal of human genetics (01.08.1997)
Published in American journal of human genetics (01.08.1997)
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Suggestive linkage of situs inversus and other left-right axis anomalies to chromosome 6p
VITALE, E, BRANCOLINI, V, DE RIENZO, A, BIRD, L, ALLADA, V, SKLANSKY, M, CHAE, C U, FERRERO, G B, WEBER, J, DEVOTO, M, CASEY, B
Published in Journal of medical genetics (01.03.2001)
Published in Journal of medical genetics (01.03.2001)
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Monitoring treatment in tetrahydrobiopterin deficiency by serum prolactin
Spada, M, Ferraris, S, Ferrero, G B, Sartore, M, Lanza, C, Perfetto, F, de Sanctis, L, Dompé, C, Blau, N, Ponzone, A
Published in Journal of inherited metabolic disease (01.01.1996)
Published in Journal of inherited metabolic disease (01.01.1996)
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X-linked situs abnormalities result from mutations in ZIC3
Gebbia, M, Ferrero, G B, Pilia, G, Bassi, M T, Aylsworth, A, Penman-Splitt, M, Bird, L M, Bamforth, J S, Burn, J, Schlessinger, D, Nelson, D L, Casey, B
Published in Nature genetics (01.11.1997)
Published in Nature genetics (01.11.1997)
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The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions
Wapenaar, M C, Bassi, M T, Schaefer, L, Grillo, A, Ferrero, G B, Chinault, A C, Ballabio, A, Zoghbi, H Y
Published in Human molecular genetics (01.07.1993)
Published in Human molecular genetics (01.07.1993)
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X-linked situs abnormalities result from mutations in ZIC3
Gebbia, Marinella, Ferrero, Giovanni B, Pilia, Giuseppe, Bassi, Maria T, Aylsworth, Arthur S, Penman-Splitt, Miranda, Bird, Lynne M, Bamforth, John S, Burn, John, Schlessinger, David, Nelson, David L, Casey, Brett
Published in Nature genetics (01.11.1997)
Published in Nature genetics (01.11.1997)
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