Search Results - "Feresin, Agnese"

Neonatal presentation of Loeys-Dietz syndrome: two case reports and review of the literature by Baldo, Francesco, Morra, Laura, Feresin, Agnese, Faletra, Flavio, Al Naber, Yasmin, Memo, Luigi, Travan, Laura

“…Loeys-Dietz syndrome (LDS) is a rare connective tissue disorder characterized by cardiovascular manifestations, especially aortic dilatations and arterial…”
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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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The Role of Knockout Olfactory Receptor Genes in Odor Discrimination by Concas, Maria Pina, Cocca, Massimiliano, Francescatto, Margherita, Battistuzzi, Thomas, Spedicati, Beatrice, Feresin, Agnese, Morgan, Anna, Gasparini, Paolo, Girotto, Giorgia

“…To date, little is known about the role of olfactory receptor (OR) genes on smell performance. Thanks to the availability of whole-genome sequencing data of…”
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Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis by Sirchia, Fabio, Fantasia, Ilaria, Feresin, Agnese, Giorgio, Elisa, Faletra, Flavio, Mordeglia, Denise, Barbieri, Moira, Guida, Valentina, De Luca, Alessandro, Stampalija, Tamara

“…Cerebro-oculo-facio-skeletal syndrome (COFS) is a severe and progressive neurologic condition characterized by prenatal onset of arthrogryposis, cataract,…”
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The Influence of Hearing Impairment on Mental Age in Down Syndrome: Preliminary Results by Saksida, Amanda, Brotto, Davide, Pizzamiglio, Giulia, Bianco, Elena, Bressan, Sara, Feresin, Agnese, Bin, Maura, Orzan, Eva

“…The increased life expectancy for patients with Down Syndrome (DS) has elicited the need to improve their quality of life by enhancing functional outcomes and…”
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Modeling Postnatal Hearing Case Finding Within the Italian National Health System by Orzan, Eva, Pizzamiglio, Giulia, Marchi, Raffaella, Muzzi, Enrico, Monasta, Lorenzo, Torelli, Lucio, Feresin, Agnese

“…Despite the successful implementation of newborn hearing screening (NHS), a debate is emerging as to what should be the best means of enabling timely diagnosis…”
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Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis by Persico, Ilaria, Feresin, Agnese, Faleschini, Michela, Fontana, Giorgia, Sirchia, Fabio, Faletra, Flavio, La Bianca, Martina, Suergiu, Sarah, Morgutti, Marcello, Maschio, Massimo, D'Adamo, Adamo Pio, Raraigh, Karen S., Savoia, Anna, Bottega, Roberta

“…Background Despite consolidated guidelines, the clinical diagnosis and prognosis of cystic fibrosis (CF) is still challenging mainly because of the extensive…”
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Contiguous Gene Syndromes and Hearing Loss: A Clinical Report of Xq21 Deletion and Comprehensive Literature Review by Bonati, Maria Teresa, Feresin, Agnese, Prontera, Paolo, Michieletto, Paola, Gambacorta, Valeria, Ricci, Giampietro, Orzan, Eva

“…Given the crucial role of the personalized management and treatment of hearing loss (HL), etiological investigations are performed early on, and genetic…”
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Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct by Nicolle, Romain, Boutaud, Lucile, Loeuillet, Laurence, Talhi, Naima, Grotto, Sarah, Bourgon, Nicolas, Feresin, Agnese, Coussement, Aurélie, Barrois, Mathilde, Beaujard, Marie-Paule, Rambaud, Thomas, Razavi, Férechté, Attié-Bitach, Tania

“…Severe ventriculomegaly is a rare congenital brain defect, usually detected in utero, of poor neurodevelopmental prognosis. This ventricular enlargement can be…”
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The clinical impact of the first‐trimester nuchal translucency between the 95th–99th percentiles by Fantasia, Ilaria, Catagini, Silvia, Zamagni, Giulia, Greco, Pantaleo, Bianchini, Irene, Bussolaro, Sofia, Quadrifoglio, Mariachiara, Lo Bello, Leila, Monasta, Lorenzo, Ricci, Giuseppe, Faletra, Flavio, Feresin, Agnese, Stampalija, Tamara

“…Objectives To evaluate the clinical significance of nuchal translucency (NT) between the 95th–99th percentile in terms of typical and atypical…”
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Who misses the newborn hearing screening? Five years’ experience in Friuli-Venezia Giulia Region (Italy) by Feresin, Agnese, Ghiselli, Sara, Marchi, Raffaella, Staffa, Paola, Monasta, Lorenzo, Orzan, Eva

“…Permanent hearing impairment is the most common sensory disorder in newborns. The Universal Newborn Hearing Screening (UNHS) is widely adopted as a…”
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TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition by Musante, Luciana, Faletra, Flavio, Meier, Kolja, Tomoum, Hoda, Najarzadeh Torbati, Paria, Blair, Edward, North, Sally, Gärtner, Jutta, Diegmann, Susann, Beiraghi Toosi, Mehran, Ashrafzadeh, Farah, Ghayoor Karimiani, Ehsan, Murphy, David, Murru, Flora Maria, Zanus, Caterina, Magnolato, Andrea, La Bianca, Martina, Feresin, Agnese, Girotto, Giorgia, Gasparini, Paolo, Costa, Paola, Carrozzi, Marco

“…Biallelic mutations in the TTC5 gene have been associated with autosomal recessive intellectual disability (ARID) and subsequently with an ID syndrome…”
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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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