Search Results - "Silvestri, Evelina"

Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum by Haldipur, Parthiv, Aldinger, Kimberly A, Bernardo, Silvia, Deng, Mei, Timms, Andrew E, Overman, Lynne M, Winter, Conrad, Lisgo, Steven N, Razavi, Ferechte, Silvestri, Evelina, Manganaro, Lucia, Adle-Biassette, Homa, Guimiot, Fabien, Russo, Rosa, Kidron, Debora, Hof, Patrick R, Gerrelli, Dianne, Lindsay, Susan J, Dobyns, William B, Glass, Ian A, Alexandre, Paula, Millen, Kathleen J

“…We present histological and molecular analyses of the developing human cerebellum from 30 days after conception to 9 months after birth. Differences in…”
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Evidence of disrupted rhombic lip development in the pathogenesis of Dandy–Walker malformation by Haldipur, Parthiv, Bernardo, Silvia, Aldinger, Kimberly A., Sivakumar, Tarika, Millman, Jake, Sjoboen, Alexandria H., Dang, Derek, Dubocanin, Danilo, Deng, Mei, Timms, Andrew E., Davis, Brian D., Plummer, Jasmine T., Mankad, Kshitij, Oztekin, Ozgur, Manganaro, Lucia, Guimiot, Fabien, Adle-Biassette, Homa, Russo, Rosa, Siebert, Joseph R., Kidron, Debora, Petrilli, Giulia, Roux, Nathalie, Razavi, Ferechte, Glass, Ian A., Di Gioia, Cira, Silvestri, Evelina, Millen, Kathleen J.

“…Dandy–Walker malformation (DWM) and Cerebellar vermis hypoplasia (CVH) are commonly recognized human cerebellar malformations diagnosed following ultrasound…”
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Discordant Eosinophilic/T-Cell Chorionic Vasculitis in a Dichorionic Diamniotic Placenta by Silvestri, Evelina, Servadei, Francesca, Tamagnini, Ione, Moretti, Laura, Bonasoni, Maria Paola

“…Eosinophilic/T-cell chorionic vasculitis (ETCV) is an idiopathic lesion composed of eosinophils, CD3+ T lymphocytes, and histiocytes. In twins, ETCV may affect…”
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An inherited TBX3 alteration in a prenatal case of ulnar-mammary syndrome: Clinical assessment and functional characterization in Drosophila melanogaster by Irene, Bottillo, Andrea, D'Alessandro, Pia, Ciccone Maria, Gianluca, Cestra, Gianluca, Di Giacomo, Evelina, Silvestri, Marco, Castori, Francesco, Brancati, Andrea, Lenzi, Alessandro, Paiardini, Silvia, Majore, Giovanni, Cenci, Paola, Grammatico

“…Ulnar mammary syndrome (UMS) results from heterozygous variants in the TBX3 gene and impacts limb, tooth, hair, apocrine gland, and genitalia development. The…”
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Incidental endometrial adenocarcinoma in early pregnancy: a case report and review of the literature by Hannuna, Karen Yael, Yael, Hannuna Karen, Putignani, Lorenza, Lorenza, Putignani, Silvestri, Evelina, Evelina, Silvestri, Pisa, Roberto, Roberto, Pisa, Angioli, Roberto, Roberto, Angioli, Signore, Fabrizio, Fabrizio, Signore

“…Endometrial cancer is the most common neoplasia of the female reproductive system, with the highest incidence among uterine malignancies, and is rarely…”
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Failure of human rhombic lip differentiation underlies medulloblastoma formation by Hendrikse, Liam D., Haldipur, Parthiv, Saulnier, Olivier, Millman, Jake, Erickson, Anders W., Gordon, Victor, Coudière-Morrison, Ludivine, Shokouhian, Mohammad, Suárez, Raúl A., Ly, Michelle, Borlase, Stephanie, Scott, David S., Farooq, Hamza, Sirbu, Olga, Nambu, Shohei, Funakoshi, Yusuke, Diaz-Mejia, J. Javier, Golser, Joseph, Bach, Kathleen, Phuong-Bao, Tram, Skowron, Patryk, Wang, Evan Y., Kumar, Sachin A., Balin, Polina, Visvanathan, Abhirami, Lee, John J. Y., Ayoub, Ramy, Mungall, Karen L., Wang, Yu C., Kim, Seung-Ki, Bourdeaut, Franck, Doz, François, Masliah-Planchon, Julien, Grajkowska, Wieslawa A., Loukides, James, Dirks, Peter, Fèvre-Montange, Michelle, French, Pim J., Kros, Johan M., Zitterbart, Karel, Bailey, Swneke D., Eberhart, Charles G., Rao, Amulya A. N., Giannini, Caterina, Olson, James M., Phillips, Joanna J., Ra, Young S., de Torres, Carmen, Mora, Jaume, Li, Kay K. W., Poon, Wai S., Pollack, Ian F., López-Aguilar, Enrique, Gillespie, G. Yancey, Shofuda, Tomoko, Vibhakar, Rajeev, Thompson, Reid C., Rubin, Joshua B., Jung, Shin, Lach, Boleslaw, Iolascon, Achille, Ferrucci, Veronica, Zollo, Massimo, Cinalli, Giuseppe, Robinson, Shenandoah, Stearns, Duncan S., Van Meir, Erwin G., Porrati, Paola, Massimino, Maura, Carlotti, Carlos G., Faria, Claudia C., Chan, Jennifer A., Aldinger, Kimberly A., Razavi, Ferechte, McLendon, Roger E., Thompson, Eric M., Ansari, Marc, Garre, Maria L., Chico, Fernando, Eguía, Pilar, Morrissy, A. Sorana, Wu, Xiaochong, Daniels, Craig, Rich, Jeremy N., Jones, Steven J. M., Marra, Marco A., Reimand, Jüri, Sorensen, Poul H., Wechsler-Reya, Robert J., Kleinman, Claudia L., Jabado, Nada, Malkin, David, Ayrault, Olivier, Golden, Jeffrey A., Ellison, David W., Doble, Brad, Ramaswamy, Vijay, Werbowetski-Ogilvie, Tamra E., Suzuki, Hiromichi, Millen, Kathleen J.

“…Medulloblastoma (MB) comprises a group of heterogeneous paediatric embryonal neoplasms of the hindbrain with strong links to early development of the hindbrain…”
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The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome: A case report and literature review by Cocciadiferro, Dario, Agolini, Emanuele, Digilio, Maria Cristina, Sinibaldi, Lorenzo, Castori, Marco, Silvestri, Evelina, Dotta, Andrea, Dallapiccola, Bruno, Novelli, Antonio

“…KIAA0586 variants have been associated to short-rib thoracic dysplasia, an autosomal recessive skeletal ciliopathy characterized by a narrow thorax, short…”
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Fetal Presentation of Walker-Warburg Syndrome with Compound Heterozygous POMT2 Missense Mutations by Zago, Silvia, Silvestri, Evelina, Arcangeli, Tiziana, Calisesi, Marina, Romeo, Chiara, Parmeggiani, Giulia, Parrini, Elena, Cetica, Valentina, Guerrini, Renzo, Palicelli, Andrea, Bonasoni, Maria Paola

“…Background: Walker-Warburg syndrome (WWS) (OMIM #236670) is an autosomal recessive disorder characterized by congenital muscular dystrophy, hydrocephalus,…”
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Role of fetal MRI in the evaluation of isolated and non‐isolated corpus callosum dysgenesis: results of a cross‐sectional study by Manganaro, Lucia, Bernardo, Silvia, De Vito, Corrado, Antonelli, Amanda, Marchionni, Enrica, Vinci, Valeria, Saldari, Matteo, Di Meglio, Letizia, Giancotti, Antonella, Silvestri, Evelina, Catalano, Carlo, Pizzuti, Antonio

“…Purpose The aims of this study were to characterize isolated and non‐isolated forms of corpus callosum dysgenesis (CCD) at fetal magnetic resonance imaging…”
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Dandy-Walker Malformation: is the 'tail sign' the key sign? by Bernardo, Silvia, Vinci, Valeria, Saldari, Matteo, Servadei, Francesca, Silvestri, Evelina, Giancotti, Antonella, Aliberti, Camilla, Porpora, Maria Grazia, Triulzi, Fabio, Rizzo, Giuseppe, Catalano, Carlo, Manganaro, Lucia

“…Objective The study aims to demonstrate the value of the ‘tail sign’ in the assessment of Dandy–Walker malformation. Methods A total of 31 fetal magnetic…”
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Author Correction: Failure of human rhombic lip differentiation underlies medulloblastoma formation by Hendrikse, Liam D., Haldipur, Parthiv, Saulnier, Olivier, Millman, Jake, Erickson, Anders W., Gordon, Victor, Coudière-Morrison, Ludivine, Shokouhian, Mohammad, Suárez, Raúl A., Ly, Michelle, Borlase, Stephanie, Scott, David S., Farooq, Hamza, Sirbu, Olga, Nambu, Shohei, Funakoshi, Yusuke, Diaz-Mejia, J. Javier, Golser, Joseph, Bach, Kathleen, Phuong-Bao, Tram, Skowron, Patryk, Wang, Evan Y., Kumar, Sachin A., Balin, Polina, Visvanathan, Abhirami, Lee, John J. Y., Ayoub, Ramy, Mungall, Karen L., Wang, Yu C., Kim, Seung-Ki, Bourdeaut, Franck, Doz, François, Masliah-Planchon, Julien, Grajkowska, Wieslawa A., Loukides, James, Dirks, Peter, Fèvre-Montange, Michelle, French, Pim J., Kros, Johan M., Zitterbart, Karel, Bailey, Swneke D., Eberhart, Charles G., Rao, Amulya A. N., Giannini, Caterina, Olson, James M., Phillips, Joanna J., Ra, Young S., de Torres, Carmen, Mora, Jaume, Li, Kay K. W., Poon, Wai S., Pollack, Ian F., López-Aguilar, Enrique, Gillespie, G. Yancey, Shofuda, Tomoko, Vibhakar, Rajeev, Thompson, Reid C., Rubin, Joshua B., Jung, Shin, Lach, Boleslaw, Iolascon, Achille, Ferrucci, Veronica, Zollo, Massimo, Cinalli, Giuseppe, Robinson, Shenandoah, Stearns, Duncan S., Van Meir, Erwin G., Porrati, Paola, Massimino, Maura, Carlotti, Carlos G., Faria, Claudia C., Chan, Jennifer A., Aldinger, Kimberly A., Razavi, Ferechte, McLendon, Roger E., Thompson, Eric M., Ansari, Marc, Garre, Maria L., Chico, Fernando, Eguía, Pilar, Morrissy, A. Sorana, Wu, Xiaochong, Daniels, Craig, Rich, Jeremy N., Jones, Steven J. M., Marra, Marco A., Reimand, Jüri, Sorensen, Poul H., Wechsler-Reya, Robert J., Kleinman, Claudia L., Jabado, Nada, Malkin, David, Ayrault, Olivier, Golden, Jeffrey A., Ellison, David W., Doble, Brad, Ramaswamy, Vijay, Werbowetski-Ogilvie, Tamra E., Suzuki, Hiromichi, Millen, Kathleen J.

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Axial skeletogenesis in human autosomal aneuploidies: A radiographic study of 145 second trimester fetuses by Castori, Marco, Servadei, Francesca, Laino, Luigi, Pascolini, Giulia, Fabbri, Romano, Cifani, Anna Elisabetta, Sforzolini, Giovanna Scassellati, Silvestri, Evelina, Grammatico, Paola

“…Autosomal aneuploidies associate with multiple minor skeletal defects, which, in fetuses, are best appreciated post‐mortem after specific anatomic…”
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Role of foetal MRI in the evaluation of ischaemic-haemorrhagic lesions of the foetal brain by Manganaro, Lucia, Bernardo, Silvia, La Barbera, Laura, Noia, Giuseppe, Masini, Lucia, Tomei, Alessandra, Fierro, Francesca, Vinci, Valeria, Sollazzo, Paolo, Silvestri, Evelina, Giancotti, Antonella, Marini, Mario

“…The purpose of this study is to define the role of foetal magnetic resonance imaging (MRI) in evaluating cerebral ischaemic-haemorrhagic lesions and the…”
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Sirenomelia and VACTERL association in the offspring of a woman with diabetes by Castori, Marco, Silvestri, Evelina, Cappellacci, Sandra, Binni, Francesco, Sforzolini, Giovanna Scassellati, Grammatico, Paola

“…Sirenomelia and VACTERL association are defects of blastogenesis of unknown cause. Although they appear clinically distinct, some epidemiological and…”
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Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report by Bottillo, Irene, Castori, Marco, De Bernardo, Carmelilia, Fabbri, Romano, Grammatico, Barbara, Preziosi, Nicoletta, Scassellati, Giovanna Sforzolini, Silvestri, Evelina, Spagnuolo, Antonella, Laino, Luigi, Grammatico, Paola

“…Thrombocytopenia-absent radius syndrome is a rare autosomal recessive disorder characterized by megakaryocytic thrombocytopenia and longitudinal limb…”
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Dandy-Walker Malformation: is the ‘tail sign’ the key sign?: The ‘tail sign’ is, in our experience, always indicative of a vermian pathology by Bernardo, Silvia, Vinci, Valeria, Saldari, Matteo, Servadei, Francesca, Silvestri, Evelina, Giancotti, Antonella, Aliberti, Camilla, Porpora, Maria Grazia, Triulzi, Fabio, Rizzo, Giuseppe, Catalano, Carlo, Manganaro, Lucia

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Oropharyngeal teratoma, oral duplication, cervical diplomyelia and anencephaly in a 22-week fetus: A review of the craniofacial teratoma syndrome by Morlino, Silvia, Castori, Marco, Servadei, Francesca, Laino, Luigi, Silvestri, Evelina, Grammatico, Paola

“…Background Oropharyngeal teratoma may occur by itself or together with other craniofacial malformations, most commonly cleft palate. Oropharyngeal teratoma may…”
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Bilateral subependymal heterotopia, ventriculomegaly and cerebellar asymmetry: fetal MRI findings of a rare association of brain anomalies by Manganaro, Lucia, Saldari, Matteo, Bernardo, Silvia, Aliberti, Camilla, Silvestri, Evelina

“…Subependymal heterotopia (SEH) is a neuronal migration disorder characterized by nodules of gray matter along the lateral ventricular walls and often…”
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A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation by Castori, Marco, Bottillo, Irene, D'Angelantonio, Daniela, Morlino, Silvia, De Bernardo, Carmelilia, Scassellati Sforzolini, Giovanna, Silvestri, Evelina, Grammatico, Paola

“…Nager syndrome, or acrofacial dysostosis type 1 (AFD1), is a rare multiple malformation syndrome characterized by hypoplasia of first and second branchial…”
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Histomorphometric characteristics of first trimester chorionic villi in pregnancies with low serum pregnancy-associated plasma protein-A levels: relationship with placental three-dimensional power doppler ultrasonographic vascularization by Rizzo, Giuseppe, Silvestri, Evelina, Capponi, Alessandra, Servadei, Francesca, Pietrolucci, Maria Elena, Capece, Antonio, Pisa, Roberto, Arduini, Domenico

“…Objective. To evaluate histomorphometric vascular characteristics from samples obtained by chorionic villus sampling (CVS) in pregnancies with low serum…”
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