Search Results - "Iossa, Sandra"

GJB2 Gene Mutations in Syndromic Skin Diseases with Sensorineural Hearing Loss by Iossa, Sandra, Marciano, Elio, Franze, Annamaria

“…The GJB2 gene is located on chromosome 13q12 and it encodes the connexin 26, a transmembrane protein involved in cell-cell attachment of almost all tissues…”
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Intragenic Deletion in MACROD2: A Family with Complex Phenotypes Including Microcephaly, Intellectual Disability, Polydactyly, Renal and Pancreatic Malformations by Lombardo, Barbara, Esposito, Daniela, Iossa, Sandra, Vitale, Andrea, Verdesca, Francesco, Perrotta, Carla, Di Leo, Luca, Costa, Valerio, Pastore, Lucio, Franzé, Annamaria

“…Diagnosing a complex genetic syndrome and correctly assigning the concomitant phenotypic traits to a well-defined clinical form is often a medical challenge…”
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Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings by Falco, Mariateresa, Franzè, Annamaria, Iossa, Sandra, De Falco, Luigia, Gambale, Antonella, Marciano, Elio, Iolascon, Achille

“…Bjornstad syndrome is a rare condition characterized by pili torti and sensorineural hearing loss associated with pathological variations in BCS1L. Mutations…”
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SLC26A4 genotypes associated with enlarged vestibular aqueduct malformation in south Italian children with sensorineural hearing loss by Franzè, Annamaria, Esposito, Gabriella, Di Domenico, Carmela, Iossa, Sandra, Sauchelli, Giuliana, Fioretti, Tiziana, Cavaliere, Michele, Auletta, Gennaro, Corvino, Virginia, Laria, Carla, Malesci, Rita, Marciano, Elio, Salvatore, Francesco

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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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R75Q dominant mutation in GJB2 gene silenced by the in cis recessive mutation c.35delG by Iossa, Sandra, Chinetti, Viviana, Corvino, Virginia, Marciano, Elio, Franzè, Annamaria

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New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma by Iossa, Sandra, Chinetti, Viviana, Auletta, Gennaro, Laria, Carla, De Luca, Maria, Rienzo, Monica, Giannini, Pasquale, Delfino, Mario, Ciccodicola, Alfredo, Marciano, Elio, Franzé, Annamaria

“…The GJB2 gene located on chromosome 13q12 and encoding the connexin 26 (Cx26) protein, a transmembrane protein involved in cell–cell attachment of almost all…”
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Mutational analysis for GJB2, GJB6, and GJB3 genes in Campania within a universal neonatal hearing screening programme by Chinetti, Viviana, Iossa, Sandra, Auletta, Gennaro, Corvino, Virginia, De Luca, Maria, De Falco, Francesca, Giannini, Pasquale, Lilli, Giorgio, Malesci, Rita, Riccardi, Pasquale, Marciano, Elio, Franzè, Annamaria

“…Abstract Objective: To determine the incidence of GJB2 and GJB3 mutations and of two deletions upstream of the GJB6 gene in infants of the Campania region of…”
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Exclusion of TNFRSF11B as Candidate Gene for Otosclerosis in Campania Population by Iossa, Sandra, Morello, Giovanna, Esposito, Teresa, Corvino, Virginia, Giannini, Pasquale, Salvato, Raffaella, Cavaliere, Michele, Panetti, Maria, Panetti, Giuseppe, Piantedosi, Bruno, Gianfrancesco, Fernando, Marciano, Elio, Franzè, Annamaria

“…The etiology of otosclerosis is unknown. The etiopathogenesis of otosclerosis seems similar to that occurring in Paget’s disease of bone, for which mutations…”
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Screening for GJB2 and GJB6 gene mutations in patients from Campania region with sensorineural hearing loss by Chinetti, Viviana, Iossa, Sandra, Auletta, Gennaro, Laria, Carla, de Luca, Maria, Di Leva, Francesca, Riccardi, Pasquale, Giannini, Pasquale, Gasparini, Paolo, Ciccodicola, Alfredo, Marciano, Elio, Franzè, Annamaria

“…Abstract The aim of this study was to screen 349 patients affected by sensorineural hearing loss (SNHL), mostly from the Campania region (southern Italy), for…”
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New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma by Iossa, Sandra, Chinetti, Viviana, Auletta, Gennaro, Laria, Carla, De Luca, Maria, Rienzo, Monica, Giannini, Pasquale, Delfino, Mario, Ciccodicola, Alfredo, Marciano, Elio, Franzé, Annamaria

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