Search Results - "Sensi, Alberto"

Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype by Cesca, Federica, Bettella, Elisa, Polli, Roberta, Leonardi, Emanuela, Aspromonte, Maria Cristina, Sicilian, Barbara, Stanzial, Franco, Benedicenti, Francesco, Sensi, Alberto, Ciorba, Andrea, Bigoni, Stefania, Cama, Elona, Scimemi, Pietro, Santarelli, Rosamaria, Murgia, Alessandra

“…Non-syndromic hearing loss (NSHL) is characterized by a vast genetic heterogeneity; some syndromic forms as Usher syndrome (USH) have onset as isolated…”
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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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Clinical and genetic diagnosis of warts, hypogammaglobulinemia, infections, and myelokathexis syndrome in 10 patients by Tassone, Laura, PhD, Notarangelo, Lucia D., MD, Bonomi, Vanessa, PhD, Savoldi, Gianfranco, PhD, Sensi, Alberto, MD, Soresina, Annarosa, MD, Smith, C.I. Edvard, MD, Porta, Fulvio, MD, Plebani, Alessandro, MD, Notarangelo, Luigi D., MD, Badolato, Raffaele, MD, PhD

“…Clinical and genetic diagnoses of WHIM syndrome were delayed in the majority of patients, and the diagnosis was missed in 1 patient (P8) who died at 54 years…”
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Deciphering the pathogenesis of the COL4‐related hematuric nephritis: A genotype/phenotype study by Uliana, Vera, Sebastio, Paola, Riva, Matteo, Carli, Diana, Ruberto, Claudio, Bianchi, Laura, Graziano, Claudio, Capelli, Irene, Faletra, Flavio, Pillon, Roberto, Mattina, Teresa, Sensi, Alberto, Bonatti, Francesco, Percesepe, Antonio

“…Background Alport syndrome (ATS) is a hereditary progressive hematuric nephropathy associated with sensorineural deafness and ocular abnormalities, which is…”
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Hyperinsulinemic Hypoglycaemia in a Turner Syndrome with Ring (X) by Marchetti, Federico, Hussain, Khalid, Sensi, Alberto, Pragliola, Antonella, Graziani, Vanna, Cappella, Michela, Muratori, Claudia

“…Hyperinsulinemic hypoglycaemia (HH) is a group of clinically, genetically, and morphologically heterogeneous disorders characterized by dysregulation of…”
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A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents by Marini, Monica, Bocciardi, Renata, Gimelli, Stefania, Di Duca, Marco, Divizia, Maria T., Baban, Anwar, Gaspar, Harald, Mammi, Isabella, Garavelli, Livia, Cerone, Roberto, Emma, Francesco, Bedeschi, Maria F., Tenconi, Romano, Sensi, Alberto, Salmaggi, Andrea, Bengala, Mario, Mari, Francesca, Colussi, Gianluca, Szczaluba, Krzysztof, Antonarakis, Stylianos E., Seri, Marco, Lerone, Margherita, Ravazzolo, Roberto

“…Nail-Patella syndrome (MIM 161200) is a rare autosomal dominant disorder characterized by hypoplastic or absent patellae, dystrophic nails, dysplasia of the…”
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Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders by Magini, Pamela, Scarano, Emanuela, Donati, Ilaria, Sensi, Alberto, Mazzanti, Laura, Perri, Annamaria, Tamburrino, Federica, Mongelli, Patrizia, Percesepe, Antonio, Visconti, Paola, Parmeggiani, Antonia, Seri, Marco, Graziano, Claudio

“…In clinical genetics, the need to discriminate between benign and pathogenic variants identified in patients with neurodevelopmental disorders is an absolute…”
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A familial case of NOG -related symphalangism spectrum disorder due to a novel NOG variant by Parmeggiani, Giulia, Gualandi, Francesca, Limarzi, Marco, Ferlini, Alessandra, Brotto, Davide, Martini, Alessandro, Sensi, Alberto

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A familial case of NOG-related symphalangism spectrum disorder due to a novel NOG variant by Parmeggiani, Giulia, Gualandi, Francesca, Limarzi, Marco, Ferlini, Alessandra, Brotto, Davide, Martini, Alessandro, Sensi, Alberto

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Corrigendum to “Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders” [Gene 706 (2019) 162–171] by Magini, Pamela, Scarano, Emanuela, Donati, Ilaria, Sensi, Alberto, Mazzanti, Laura, Perri, Annamaria, Tamburrino, Federica, Mongelli, Patrizia, Percesepe, Antonio, Visconti, Paola, Parmeggiani, Antonia, Seri, Marco, Graziano, Claudio

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MED12 Mutation in Two Families with X-Linked Ohdo Syndrome by Rocchetti, Luca, Evangelista, Eloisa, De Falco, Luigia, Savarese, Giovanni, Savarese, Pasquale, Ruggiero, Raffaella, D'Amore, Luigi, Sensi, Alberto, Fico, Antonio

“…X-linked intellectual deficiency (XLID) is a widely heterogeneous group of genetic disorders that involves more than 100 genes. The mediator of RNA polymerase…”
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Genetic syndromes involving hearing by Martini, Alessandro, Calzolari, Ferdinando, Sensi, Alberto

“…Abstract Objective The fundamental processes involved in the mechanism of hearing seem to be controlled by hundreds of genes and hereditary hearing impairment…”
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A rare case of Hemoglobin Leiden interfering with the DIFF channel of Sysmex XE-2100 by Rosetti, Marco, Poletti, Giovanni, Sensi, Alberto, Ravani, Anna, Rondoni, Michela, Baldrati, Luca, Dorizzi, Romolo M.

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Gene expression profile predicts response to the combination of tosedostat and low-dose cytarabine in elderly AML by Visani, Giuseppe, Loscocco, Federica, Dennis, Mike, Zuffa, Eliana, Candoni, Anna, Sensi, Alberto, Giannini, Barbara, Musuraca, Gerardo, Mianulli, Anna Maria, Clavio, Marino, Rocchi, Marco, Gibellini, Davide, Navari, Mohsen, Gilkes, Amanda, Piccaluga, Pier Paolo, Isidori, Alessandro

“…Tosedostat is an orally administered metalloenzyme inhibitor with antiproliferative and antiangiogenic activity against hematological and solid human cancers…”
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LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations by Sensi, Alberto, Ceruti, Stefano, Trevisi, Patrizia, Gualandi, Francesca, Busi, Micol, Donati, Ilaria, Neri, Marcella, Ferlini, Alessandra, Martini, Alessandro

“…We report on the first cases of FGF3 compound heterozygotes in two European families from non‐consanguineous marriages, affected with labyrinthine aplasia,…”
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Tosedostat Plus Low Dose Cytarabine Induces a High Rate of Responses That Can be Predicted By Genetic Profiling in Elderly AML by Visani, Giuseppe, Loscocco, Federica, Fuligni, Fabio, Zuffa, Eliana, Sensi, Alberto, Zaccaria, Alfonso, Musuraca, Gerardo, Giannini, Barbara, Lucchesi, Alessandro, Fabbri, Francesca, Mianulli, Anna Maria, Tosi, Patrizia, Tonelli, Michela, Candoni, Anna, Fanin, Renato, Sparaventi, Giovanni, Gobbi, Marco, Clavio, Marino, Rocchi, Marco, Piccaluga, Pier Paolo, Isidori, Alessandro

“…Background: Older (age ≥60 years) patients with acute myeloid leukemia (AML) have poor outcomes and intensive induction chemotherapy is frequently unsuitable…”
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Downregulation of A(1) and A(2B) adenosine receptors in human trisomy 21 mesenchymal cells from first-trimester chorionic villi by Gessi, Stefania, Merighi, Stefania, Stefanelli, Angela, Mirandola, Prisco, Bonfatti, Alessandra, Fini, Sergio, Sensi, Alberto, Marci, Roberto, Varani, Katia, Borea, Pier Andrea, Vesce, Fortunato

“…Human reproduction is complex and prone to failure. Though causes of miscarriage remain unclear, adenosine, a proangiogenic nucleoside, may help determine…”
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“Factory” laboratories: Blessed are those who have been persecuted for the sake of righteousness, for theirs is the kingdom of heaven by Dorizzi, Romolo M., Poletti, Giovanni, Sensi, Alberto, Tonelli, Michela, Giannini, Barbara

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Downregulation of A1 and A2B adenosine receptors in human trisomy 21 mesenchymal cells from first-trimester chorionic villi by Gessi, Stefania, Merighi, Stefania, Stefanelli, Angela, Mirandola, Prisco, Bonfatti, Alessandra, Fini, Sergio, Sensi, Alberto, Marci, Roberto, Varani, Katia, Borea, Pier Andrea, Vesce, Fortunato

“…Human reproduction is complex and prone to failure. Though causes of miscarriage remain unclear, adenosine, a proangiogenic nucleoside, may help determine…”
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Neonatal arrhythmias due to deficiency of carnitine palmitoyltransferase II by Casadei, Annachiara, Biasini, Augusto, Cuna, Chiara, Mancini, Luciano, Sensi, Alberto

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