Search Results - "Alfonsi, Melissa"

Indirect co-culture with tendons or tenocytes can program amniotic epithelial cells towards stepwise tenogenic differentiation by Barboni, Barbara, Curini, Valentina, Russo, Valentina, Mauro, Annunziata, Di Giacinto, Oriana, Marchisio, Marco, Alfonsi, Melissa, Mattioli, Mauro

“…Amniotic epithelial cells (AEC) have potential applications in cell-based therapy. Thus far their ability to differentiate into tenocytes has not been…”
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Sequential combined test, second trimester maternal serum markers, and circulating fetal cells to select women for invasive prenatal diagnosis by Guanciali Franchi, Paolo, Palka, Chiara, Morizio, Elisena, Sabbatinelli, Giulia, Alfonsi, Melissa, Fantasia, Donatella, Sitar, Giammaria, Benn, Peter, Calabrese, Giuseppe

“…From January 1st 2013 to August 31st 2016, 24408 pregnant women received the first trimester Combined test and contingently offered second trimester maternal…”
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Isolation and Enrichment of Circulating Fetal Cells for NIPD: An Overview by Sabbatinelli, Giulia, Fantasia, Donatella, Palka, Chiara, Morizio, Elisena, Alfonsi, Melissa, Calabrese, Giuseppe

“…Prenatal diagnosis plays a crucial role in clinical genetics. Non-invasive prenatal diagnosis using fetal cells circulating in maternal peripheral blood has…”
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Non-invasive prenatal screening: A 20-year experience in Italy by Palka, Chiara, Guanciali-Franchi, Paolo, Morizio, Elisena, Alfonsi, Melissa, Papponetti, Marco, Sabbatinelli, Giulia, Palka, Giandomenico, Calabrese, Giuseppe, Benn, Peter

“…Over the past two decades, there has been a rapid evolution in prenatal screening for fetal chromosome abnormalities. Initially, testing was focused on the…”
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First case of two supernumerary markers derived from chromosome 5 and chromosome 8 by Giansante, Roberta, Palka Bayard De Volo, Chiara, Alfonsi, Melissa, Morizio, Elisena, Guanciali Franchi, Paolo

“…Abstract Background Small supernumerary marker chromosomes (sSMC) are additional centric chromosome fragments too small to be identified by banding…”
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Mayer-Rokitansky-Küster-Hauser syndrome with 22q11.21 microduplication: a case report by Dell'Edera, Domenico, Allegretti, Arianna, Ventura, Mario, Mercuri, Ludovica, Mitidieri, Angela, Cuscianna, Giacinto, Epifania, Annunziata Anna, Morizio, Elisena, Alfonsi, Melissa, Guanciali-Franchi, Paolo

“…Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome (Online Mendelian Inheritance in Man [OMIM] #277000) is a congenital condition characterized by the total or…”
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Human second trimester amniotic fluid cells are able to create embryoid body-like structures in vitro and to show typical expression profiles of embryonic and primordial germ cells by Antonucci, Ivana, Di Pietro, Roberta, Alfonsi, Melissa, Centurione, Maria Antonietta, Centurione, Lucia, Sancilio, Silvia, Pelagatti, Francesca, D'Amico, Maria Angela, Di Baldassarre, Angela, Piattelli, Adriano, Tetè, Stefano, Palka, Giandomenico, Borlongan, Cesar V, Stuppia, Liborio

“…Human amniotic fluid-derived stem cells (AFSCs) represent a novel class of broadly multipotent stem cells sharing characteristics of both embryonic and adult…”
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Prolonged in vitro expansion partially affects phenotypic features and osteogenic potential of ovine amniotic fluid-derived mesenchymal stromal cells by Colosimo, Alessia, Russo, Valentina, Mauro, Annunziata, Curini, Valentina, Marchisio, Marco, Bernabò, Nicola, Alfonsi, Melissa, Mattioli, Mauro, Barboni, Barbara

“…Abstract Background aims Ovine amniotic fluid mesenchymal stromal cells (oAFMSCs) are an emerging alternative source of stem cells to develop pre-clinical cell…”
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Deletion 18p11.32p11.31 in a Child with Global Developmental Delay and Atypical, Drug-Resistant Absence Seizures by Verrotti, Alberto, Palka, Chiara, Prezioso, Giovanni, Alfonsi, Melissa, Calabrese, Giuseppe, Palka, Giandomenico, Chiarelli, Francesco

“…We report the first case of an 18p11.32 deletion, detected by array CGH, associated with a drug-resistant form of atypical absence epilepsy, global…”
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Mosaic 7q31 deletion involving FOXP2 gene associated with language impairment by Palka, Chiara, Alfonsi, Melissa, Mohn, Angelika, Cerbo, Renato, Guanciali Franchi, Paolo, Fantasia, Donatella, Morizio, Elisena, Stuppia, Liborio, Calabrese, Giuseppe, Zori, Roberto, Chiarelli, Francesco, Palka, Giandomenico

“…We report on a 10-year-old patient with childhood apraxia of speech (CAS) and mild dysmorphic features. Although multiple karyotypes were reported as normal, a…”
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An 11.4-Mb Interstitial Deletion in a Fetus with No Apparent Phenotypic Alterations by Guanciali-Franchi, Paolo, Celentano, Claudio, Alfonsi, Melissa, Palka, Chiara, Di Pasqua, Giulietta, Matarrelli, Barbara, Palka, Giandomenico

“…A prenatal case of a de novo interstitial deletion distal to 8q24 was reported. Ultrasound examination and postmortem evaluation demonstrated no apparent…”
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Array-CGH characterization of a de novo t(X;Y)(p22;q11) in a female with short stature and mental retardation by Palka-Bayard-de-Volo, Chiara, De Marco, Stefania, Chiavaroli, Valentina, Alfonsi, Melissa, Calabrese, Giuseppe, Chiarelli, Francesco, Mohn, Angelika

“…We report the clinical and molecular investigations in a girl with 46,X,-X,+der(X)t(X;Y)(p22;q11) de novo karyotype who presented an intricate phenotype…”
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Case report of newborn with de novo partial trisomy 2q31.2–37.3 and monosomy 9p24.3 by Colangelo, Maurizia, Alfonsi, Melissa, Palka, Chiara, Zio, Eleonora Di, Renzo, Silvana Di, Guanciali-Franchi, Paolo, Palka, Giandomenico

“…We describe a newborn female with a de novo duplication of chromosomes 2q31.2 and 2q37.3, and a de novo monosomy 9p24.3. The clinical findings of this patient…”
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Optimal cut-offs for down syndrome contingent screening in a population of 10156 pregnant women by Guanciali-Franchi, Paolo, Iezzi, Irene, Soranno, Alessandra, Volo, Chiara Palka-Bayard, Alfonsi, Melissa, Calabrese, Giuseppe, Benn, Peter

“…Study design A population of 10156 pregnant women with singleton pregnancies were screened by the integrated test. Risks were retrospectively recalculated for…”
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16q22.1 microdeletion detected by array-CGH in a family with mental retardation and lobular breast cancer by Palka Bayard de Volo, Chiara, Alfonsi, Melissa, Gatta, Valentina, Novelli, Antonio, Bernardini, Laura, Fantasia, Donatella, Antonucci, Ivana, Angelucci, Domenico, Zori, Robert, Stuppia, Liborio, Chiarelli, Francesco, Calabrese, Giuseppe

“…We describe the case of a boy with psychomotor delay and dysmorphic features, with a germline 16q22.1 microdeletion identified by array-CGH. The deletion spans…”
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Aneuploidy screening using circulating fetal cells in maternal blood by dual‐probe FISH protocol: a prospective feasibility study on a series of 172 pregnant women by Calabrese, Giuseppe, Fantasia, Donatella, Alfonsi, Melissa, Morizio, Elisena, Celentano, Claudio, Guanciali Franchi, Paolo, Sabbatinelli, Giulia, Palka, Chiara, Benn, Peter, Sitar, Gianmaria

“…Background A long sought goal in medical genetics has been the replacement of invasive procedures for the detection of chromosomal aneuploidies by isolating…”
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Optimal cut-offs for down syndrome contingent screening in a population of 10 156 pregnant women by Guanciali-Franchi, Paolo, Iezzi, Irene, Soranno, Alessandra, de Volo, Chiara Palka-Bayard, Alfonsi, Melissa, Calabrese, Giuseppe, Benn, Peter

“…ABSTRACT Study design A population of 10 156 pregnant women with singleton pregnancies were screened by the integrated test. Risks were retrospectively…”
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16p13.3 microduplication syndrome: A new characteristic case without intellectual disability by Palka, Chiara, Alfonsi, Melissa, Morizio, Elisena, Guanciali-Franchi, Paolo, Mohn, Angelika, Chiarelli, Francesco, Palka, Giandomenico, Calabrese, Giuseppe

“…Interstitial 16p13.3 microduplication, encompassing the CREBBP gene, is now considered a well recognizable syndrome. To date, 28 patients have been reported…”
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Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array‐based detection rate by Catusi, Ilaria, Recalcati, Maria Paola, Bestetti, Ilaria, Garzo, Maria, Valtorta, Chiara, Alfonsi, Melissa, Alghisi, Alberta, Cappellani, Stefania, Casalone, Rosario, Caselli, Rossella, Ceccarini, Caterina, Ceglia, Carlo, Ciaschini, Anna Maria, Coviello, Domenico, Crosti, Francesca, D'Aprile, Annamaria, Fabretto, Antonella, Genesio, Rita, Giagnacovo, Marzia, Granata, Paola, Longo, Ilaria, Malacarne, Michela, Marseglia, Giuseppina, Montaldi, Annamaria, Nardone, Anna Maria, Palka, Chiara, Pecile, Vanna, Pessina, Chiara, Postorivo, Diana, Redaelli, Serena, Renieri, Alessandra, Rigon, Chiara, Tiberi, Fabiola, Tonelli, Mariella, Villa, Nicoletta, Zilio, Anna, Zuccarello, Daniela, Novelli, Antonio, Larizza, Lidia, Giardino, Daniela

“…Background Chromosomal microarray analysis (CMA) is nowadays widely used in the diagnostic path of patients with clinical phenotypes. However, there is no…”
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De novo 9q33 microdeletion identified by array-comparative genomic hybridization in a foetus with sex reversal and congenital heart defects by Alfonsi, Melissa, Palka, Chiara, Morizio, Elisena, Gatta, Valentina, Antonucci, Ivana, Ruggeri, Giuseppe, Chiarelli, Francesco, Stuppia, Liborio, Palka, Giandomenico, Calabrese, Giuseppe

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