Search Results - "Cavani, S"

First-trimester euploid miscarriages analysed by array-CGH by Viaggi, Chiara Donatella, Cavani, S, Malacarne, M, Floriddia, F, Zerega, G, Baldo, C, Mogni, M, Castagnetta, M, Piombo, G, Coviello, D. A, Camandona, F, Lijoi, D, Insegno, W, Traversa, M, Pierluigi, M

“…It is estimated that 10–15 % of all clinically recognised pregnancies results in a miscarriage, most of which occur during the first trimester. Large-scale…”
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Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation by Mainardi, P Cerruti, Perfumo, C, Calì, A, Coucourde, G, Pastore, G, Cavani, S, Zara, F, Overhauser, J, Pierluigi, M, Bricarelli, F Dagna

“…The majority of deletions of the short arm of chromosome 5 are associated with cri du chat syndrome (CdCS) and patients show phenotypic and cytogenetic…”
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Array‐CGH and clinical characterization in a patient with subtelomeric 6p deletion without ocular dysgenesis by Piccione, Maria, Antona, R., Salzano, E., Cavani, S., Malacarne, M., Morreale Bubella, R., Pierluigi, M., Viaggi, C.D., Corsello, Giovanni

“…Subtelomeric terminal 6p deletion has been recognized as a clinically identifiable syndrome including facial dysmorphism, malformation of the anterior eye…”
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Frequency of hyper-, hypohaploidy and diploidy in ejaculate, epididymal and testicular germ cells of infertile patients by Bernardini, L., Gianaroli, L., Fortini, D., Conte, N., Magli, C., Cavani, S., Gaggero, G., Tindiglia, C., Ragni, N., Venturini, P.L.

“…The hypothesis that sperm aneuploidy and diploidy increase as a function of spermatogenesis impairment was addressed. Ejaculated semen samples from a series of…”
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Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth by 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

“…Sotos syndrome is characterized by pre‐ and post‐natal overgrowth, typical craniofacial features, advanced bone age, and developmental delay. Some degree of…”
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Prenatal diagnosis of Gollop-Wolfgang Complex by Forzano, Francesca, Viassolo, V., Castagnetta, M., Cavani, S., Battistuzzi, L., Garbati, E., Emiliozzi, M.C., Cecchi, A., Faravelli, F., Lituania, M.

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Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: an Italian multicentric prenatal survey by Sensi, A., Cavani, S., Villa, N., Pomponi, M. G., Fogli, A., Gualandi, F., Grasso, M., Sala, E., Pietrobono, R., Baldinotti, F., Savin, E., Ferlini, A., Cecconi, M., Rossi, S., Gallone, S., Bellini, C., Neri, G., Martinoli, E., Simi, P., Dalprà, L., Genuardi, M., Dagna-Bricarelli, F., Calzolari, E.

“…Objectives The risk of uniparental disomy (UPD) occurrence associated with the prenatal finding of balanced nonhomologous Robertsonian translocations (NHRTs)…”
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The first three mosaic cri du chat syndrome patients with two rearranged cell lines by PERFUMO, C, MAINARDI, P CERRUTI, CALÌ, A, COUCOURDE, G, ZARA, F, CAVANI, S, OVERHAUSER, J, BRICARELLI, F DAGNA, PIERLUIGI, M

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Cryptic 1p36.3/6q25.2 translocation in three generations ascertained through a foetus with IUGR and cerebral malformations by Cavani, S., Perfumo, C., Faravelli, F., Malacarne, M., Sogliani, M., Piombo, G., Zerega, G., Zucca, M., Dagna Bricarelli, F., Pierluigi, M.

“…Here we describe a foetus with intrauterine growth retardation (IUGR), cerebral malformations and a 46,XY,der(1),t(1;6)(p36.3;q25.2) karyotype owing to a…”
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Lack of evidence of a genetic origin in the impaired spermatogenesis of a patient cohort with low-grade varicocele by Foppiani, L, Cavani, S, Piredda, S, Perroni, L, Fazzuoli, L, Giusti, M

“…Varicocele is the most common clinical finding in infertile men but controversy continues to surround the utility of its treatment. An increased response of…”
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18q‐ syndrome and ectodermal dysplasia syndrome: Description of a child and his family by Zannolli, R., Pierluigi, M., Pucci, L., Lagrasta, N., Gasparre, O., Matera, M.R., Di Bartolo, R.M., Mazzei, M.A., Sacco, P., Miracco, C., de Santi, M.M., Aitiani, P., Cavani, S., Pellegrini, L., Fimiani, M., Alessandrini, C., Galluzzi, P., Livi, W., Gonnelli, S., Terrosi‐Vagnoli, P., Zappella, M., Morgese, G.

“…The 18q‐ syndrome [MIM #601808] is a terminal deletion of the long arm of chromosome 18. The most common deletion extends from region q21 to qter. We report…”
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Novel CNS syndrome and ectodermal dysplasia by Zannolli, R., Macucci, F., Di Bartolo, R.M., Serracca, L., Miracco, C., de Santi, M.M., Giannini, F., Malandrini, A., Galluzzi, P., De Robertis, S., Hadjistilianou, T., Perotti, R., Fimiani, M., Doldo, T., Giorgetti, R., Cavani, S., Pierluigi, M.

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Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology by De Rocco, Daniela, Bottega, Roberta, Cappelli, Enrico, Cavani, Simona, Criscuolo, Maria, Nicchia, Elena, Corsolini, Fabio, Greco, Chiara, Borriello, Adriana, Svahn, Johanna, Pillon, Marta, Mecucci, Cristina, Casazza, Gabriella, Verzegnassi, Federico, Cugno, Chiara, Locasciulli, Anna, Farruggia, Piero, Longoni, Daniela, Ramenghi, Ugo, Barberi, Walter, Tucci, Fabio, Perrotta, Silverio, Grammatico, Paola, Hanenberg, Helmut, Della Ragione, Fulvio, Dufour, Carlo, Savoia, Anna

“…Fanconi anemia is an inherited disease characterized by congenital malformations, pancytopenia, cancer predisposition, and sensitivity to cross-linking agents…”
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Acquired mutations in GATA1 in neonates with Down's syndrome with transient myeloid disorder by Groet, Jürgen, McElwaine, Suzanne, Spinelli, Monica, Rinaldi, Andrea, Burtscher, Ingo, Mulligan, Claire, Mensah, Afua, Cavani, Simona, Dagna-Bricarelli, Franca, Basso, Giuseppe, Cotter, Finbarr E, Nizetic, Dean

“…Transient myeloid disorder is a unique self-regressing neoplasia specific to Down's syndrome. The transcription factor GATA1 is needed for normal growth and…”
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An improved method for the detection of Down's syndrome aneuploidy in uncultured amniocytes by Pierluigi, M, Perfumo, C, Cavani, S, Lehrach, H, Nizetic, D, Dagna Bricarelli, F D

“…We report a modified method for the rapid detection of aneuploidies directly on human uncultured amniocytes that simplifies and shortens the entire…”
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Mutations in RNF135 , a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth by Rahman, Nazneen, Douglas, Jenny, Cilliers, Deirdre, Coleman, Kim, Tatton-Brown, Katrina, Barker, Karen, Bernhard, Brigitte, Burn, John, Huson, Susan, Josifova, Dragana, Lacombe, Didier, Malik, Mohsin, Mansour, Sahar, Reid, Evan, Cormier-Daire, Valerie, Cole, Trevor, Childhood Overgrowth Collaboration, The

“…17q11 microdeletions that encompass NF1 cause 5%-10% of cases of neurofibromatosis type 1, and individuals with microdeletions are typically taller than…”
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Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology by De Rocco, D., Bottega, R., Cappelli, E., Cavani, S., Criscuolo, M., Nicchia, E., Corsolini, F., Greco, C., Borriello, A., Svahn, J., Pillon, M., Mecucci, C., Casazza, G., Verzegnassi, F., Cugno, C., Locasciulli, A., Farruggia, P., Longoni, D., Ramenghi, U., Barberi, W., Tucci, F., Perrotta, S., Grammatico, P., Hanenberg, H., Ragione, F. D., Dufour, C., Savoia, A.

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Microarray transcript profiling distinguishes the transient from the acute type of megakaryoblastic leukaemia (M7) in Down's syndrome, revealing PRAME as a specific discriminating marker by McElwaine, Suzanne, Mulligan, Claire, Groet, Jürgen, Spinelli, Monica, Rinaldi, Andrea, Denyer, Gareth, Mensah, Afua, Cavani, Simona, Baldo, Chiara, Dagna‐Bricarelli, Franca, Hann, Ian, Basso, Giuseppe, Cotter, Finbarr E., Nizetic, Dean

“…Summary Transient myeloproliferative disorder (TMD) is a unique, spontaneously regressing neoplasia specific to Down's syndrome (DS), affecting up to 10% of DS…”
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Mathematical modeling of arterial pressure response to hemodialysis-induced hypovolemia by Cavalcanti, Silvio, Cavani, Silvia, Ciandrini, Andrea, Avanzolini, Guido

“…A computer model of pressure response to hemodialysis-induced hypovolemia is reported. Heart rate and hematocrit, measured in the course of hemodialysis, are…”
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Compósito de resina de poliéster insaturado com bagaço de cana-de-açúcar: influência do tratamento das fibras nas propriedades by Elisabete M. S. Sanchez, Claudia S. Cavani, Claudinete V. Leal, Caio G. Sanchez

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