Search Results - "Cappellani, Stefania"

Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss by Morgan, Anna, Vuckovic, Dragana, Krishnamoorthy, Navaneethakrishnan, Rubinato, Elisa, Ambrosetti, Umberto, Castorina, Pierangela, Franzè, Annamaria, Vozzi, Diego, La Bianca, Martina, Cappellani, Stefania, Di Stazio, Mariateresa, Gasparini, Paolo, Girotto, Giorgia

“…Hereditary hearing loss (HHL) and age-related hearing loss (ARHL) are two major sensory diseases affecting millions of people worldwide. Despite many efforts,…”
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Case Report: Two cases of apparent discordance between non-invasive prenatal testing (NIPT) and amniocentesis resulting in feto-placental mosaicism of trisomy 21. Issues in diagnosis, investigation and counselling by Feresin, Agnese, Stampalija, Tamara, Cappellani, Stefania, Bussani, Rossana, Faletra, Flavio, Murru, Flora, Ulivi, Sheila, Suergiu, Sarah, Savarese, Pasquale, Pedicini, Antonio, Policicchio, Margherita, Ruggiero, Raffaella, Bosio, Barbara, Savarese, Giovanni, Ardisia, Carmela

“…The sequencing of cell-free fetal DNA in the maternal plasma through non-invasive prenatal testing (NIPT) is an accurate genetic screening test to detect the…”
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Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations by Morgan, Anna, Lenarduzzi, Stefania, Cappellani, Stefania, Pecile, Vanna, Morgutti, Marcello, Orzan, Eva, Ghiselli, Sara, Ambrosetti, Umberto, Brumat, Marco, Gajendrarao, Poornima, La Bianca, Martina, Faletra, Flavio, Grosso, Enrico, Sirchia, Fabio, Sensi, Alberto, Graziano, Claudio, Seri, Marco, Gasparini, Paolo, Girotto, Giorgia

“…Hereditary hearing loss (HHL) is a common disorder characterized by a huge genetic heterogeneity. The definition of a correct molecular diagnosis is essential…”
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Brain-derived neurotrophic factor serum levels in genetically isolated populations: gender-specific association with anxiety disorder subtypes but not with anxiety levels or Val66Met polymorphism by Carlino, Davide, Francavilla, Ruggiero, Baj, Gabriele, Kulak, Karolina, d'Adamo, Pio, Ulivi, Sheila, Cappellani, Stefania, Gasparini, Paolo, Tongiorgi, Enrico

“…Anxiety disorders (ADs) are disabling chronic disorders with exaggerated behavioral response to threats. This study was aimed at testing the hypothesis that…”
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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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Genome‐wide association studies of response and side effects to the BNT162b2 vaccine in Italian healthcare workers: Increased antibody levels and side effects in carriers of the HLA‐A03:01 allele by Magri, Chiara, Marchina, Eleonora, Sansone, Emanuele, D'Adamo, Adamo Pio, Cappellani, Stefania, Bonfanti, Carlo, Terlenghi, Luigina, Biasiotto, Giorgio, Zanella, Isabella, Sala, Emma, Caruso, Arnaldo, Lombardo, Massimo, Gasparini, Paolo, De Palma, Giuseppe, Gennarelli, Massimo

“…The remarkable variability of response to vaccines against SARS‐CoV‐2 is apparent. The present study aims to estimate the extent to which the host genetic…”
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Next generation sequencing study in a cohort of Italian patients with syndromic hearing loss by Lenarduzzi, Stefania, Morgan, Anna, Faletra, Flavio, Cappellani, Stefania, Morgutti, Marcello, Mezzavilla, Massimo, Peruzzi, Adelaide, Ghiselli, Sara, Ambrosetti, Umberto, Graziano, Claudio, Seri, Marco, Gasparini, Paolo, Girotto, Giorgia

“…Hearing loss (HL), one of the most common congenital disorder, affects about one child in 1000. Among the genetic forms of HL, ∼30% of the cases are associated…”
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What Is the Exact Contribution of IPITX1/I and ITBX4/I Genes in Clubfoot Development? An Italian Study by Bianco, Anna Monica, Ragusa, Giulia, Di Carlo, Valentina, Faletra, Flavio, Di Stazio, Mariateresa, Racano, Costantina, Trisolino, Giovanni, Cappellani, Stefania, De Pellegrin, Maurizio, d’Addetta, Ignazio, Carluccio, Giuseppe, Monforte, Sergio, Andreacchio, Antonio, Dibello, Daniela, d’Adamo, Adamo P

“…Congenital clubfoot is a common pediatric malformation that affects approximately 0.1% of all births. 80% of the cases appear isolated, while 20% can be…”
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Phenotypic expression of 19q13.32 microdeletions: Report of a new patient and review of the literature by Travan, Laura, Naviglio, Samuele, De Cunto, Angela, Pellegrin, Andrea, Pecile, Vanna, Spinelli, Alessandro Mauro, Cappellani, Stefania, Faletra, Flavio

“…The phenotypic manifestations of microdeletions in the 19q13.32 region are still poorly known. In this paper we report a patient who presented with hypotonia,…”
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Ten new cases of Balanced Reciprocal Translocation Mosaicism (BRTM): Reproductive implications, frequency and mechanism by Garzo, Maria, Catusi, Ilaria, Colombo, Daniela Maria, De Grada, Laura, Recalcati, Maria Paola, Rodeschini, Ornella, Barone, Chiara, Beltrami, Nicola, Busuito, Rosa, Cappellani, Stefania, Ciaschini, Anna Maria, Gulisano, Anna, Malpezzi, Elisabetta, Pecile, Vanna, Pittalis, Maria Carla, Romitti, Lorenza, Stioui, Sabine, Larizza, Lidia, Giardino, Daniela

“…Chromosomal anomalies are well known to be an important cause of infertility, sterility and pregnancy loss. Balanced Reciprocal Translocation Mosaicism (BRTM)…”
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What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study by Bianco, Anna Monica, Ragusa, Giulia, Di Carlo, Valentina, Faletra, Flavio, Di Stazio, Mariateresa, Racano, Costantina, Trisolino, Giovanni, Cappellani, Stefania, De Pellegrin, Maurizio, d'Addetta, Ignazio, Carluccio, Giuseppe, Monforte, Sergio, Andreacchio, Antonio, Dibello, Daniela, d'Adamo, Adamo P

“…Congenital clubfoot is a common pediatric malformation that affects approximately 0.1% of all births. 80% of the cases appear isolated, while 20% can be…”
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High Throughput Genetic Characterisation of Caucasian Patients Affected by Multi-Drug Resistant Rheumatoid or Psoriatic Arthritis by Tesolin, Paola, Bertinetto, Francesca Eleonora, Sonaglia, Arianna, Cappellani, Stefania, Concas, Maria Pina, Morgan, Anna, Ferrero, Norma Maria, Zabotti, Alen, Gasparini, Paolo, Amoroso, Antonio, Quartuccio, Luca, Girotto, Giorgia

“…Rheumatoid and psoriatic arthritis (RA and PsA) are inflammatory rheumatic disorders characterised by a multifactorial etiology. To date, the genetic…”
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Could a chimeric condition be responsible for unexpected genetic syndromes? The role of the single nucleotide polymorphism‐array analysis by Bottega, Roberta, Cappellani, Stefania, Fabretto, Antonella, Spinelli, Alessandro Mauro, Severini, Giovanni Maria, Aloisio, Michelangelo, Faleschini, Michela, Athanasakis, Emmanouil, Bruno, Irene, Faletra, Flavio, Pecile, Vanna

“…In this paper, is reported the identification of two chimeric patients, a rare finding if sexual abnormalities are absent. However, their chimeric condition is…”
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Phenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss by Iossa, Sandra, Costa, Valerio, Corvino, Virginia, Auletta, Gennaro, Barruffo, Luigi, Cappellani, Stefania, Ceglia, Carlo, Cennamo, Giovanni, D'Adamo, Adamo Pio, D'Amico, Alessandra, Di Paolo, Nilde, Forte, Raimondo, Gasparini, Paolo, Laria, Carla, Lombardo, Barbara, Malesci, Rita, Vitale, Andrea, Marciano, Elio, Franzè, Annamaria

“…Sensorineural hearing impairment is a common pathological manifestation in patients affected by X-linked intellectual disability. A few cases of interstitial…”
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Case Report: Two cases of apparent discordance between non-invasive prenatal testing (NIPT) and amniocentesis resulting in feto-placental mosaicism of trisomy 21. Issues in diagnosis, investigation and counselling by Feresin, Agnese, Stampalija, Tamara, Cappellani, Stefania, Bussani, Rossana, Faletra, Flavio, Murru, Flora, Ulivi, Sheila, Suergiu, Sarah, Savarese, Pasquale, Pedicini, Antonio, Policicchio, Margherita, Ruggiero, Raffaella, Bosio, Barbara, Savarese, Giovanni, Ardisia, Carmela

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Could a chimeric condition be responsible for unexpected genetic syndromes? The role of the single nucleotide polymorphism-array analysis by Bottega, Roberta, Cappellani, Stefania, Fabretto, Antonella, Spinelli, Alessandro Mauro, Severini, Giovanni Maria, Aloisio, Michelangelo, Faleschini, Michela, Athanasakis, Emmanouil, Bruno, Irene, Faletra, Flavio, Pecile, Vanna

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