Search Results - "Uliana, Vera"

Charcot-Marie-Tooth Disease with Myelin Protein Zero Mutation Presenting as Painful, Predominant Small-Fiber Neuropathy by Gemignani, Franco, Percesepe, Antonio, Gualandi, Francesca, Allegri, Isabella, Bellanova, Maria Federica, Nuredini, Andi, Saccani, Elena, Ambrosini, Enrico, Barili, Valeria, Uliana, Vera

“…Charcot-Marie-Tooth disease (CMT) rarely presents with painful symptoms, which mainly occur in association with myelin protein zero ( ) gene mutations. We…”
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Proof of Concept for Genome Profiling of the Neurofibroma/Sarcoma Sequence in Neurofibromatosis Type 1 by Cannizzaro, Ilenia Rita, Treccani, Mirko, Taiani, Antonietta, Ambrosini, Enrico, Busciglio, Sabrina, Cesarini, Sofia, Luberto, Anita, De Sensi, Erika, Moschella, Barbara, Gismondi, Pierpacifico, Azzoni, Cinzia, Bottarelli, Lorena, Giordano, Giovanna, Corradi, Domenico, Silini, Enrico Maria, Zanatta, Valentina, Cennamo, Federica, Bertolini, Patrizia, Caggiati, Patrizia, Martorana, Davide, Uliana, Vera, Percesepe, Antonio, Barili, Valeria

“…Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder characterized by the predisposition to develop tumors such as malignant peripheral…”
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Mosaic derivative chromosomes at chorionic villi (CV) sampling are expression of genomic instability and precursors of cryptic disease-causing rearrangements: report of further four cases by Vitetta, Giulia, Desiderio, Laura, Baccolini, Ilaria, Uliana, Vera, Lanzoni, Giulia, Ghi, Tullio, Pilu, Gianluigi, Ambrosini, Enrico, Caggiati, Patrizia, Barili, Valeria, Trotta, Anna Carmela, Liuti, Maria Rosaria, Malpezzi, Elisabetta, Pittalis, Maria Carla, Percesepe, Antonio

“…Mosaic chromosomal anomalies arising in the product of conception and the final fetal chromosomal arrangement are expression of complex biological mechanisms…”
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Mechanism of Action and Clinical Efficacy of CDK4/6 Inhibitors in BRCA-Mutated, Estrogen Receptor-Positive Breast Cancers: Case Report and Literature Review by Militello, Anna Maria, Zielli, Teresa, Boggiani, Daniela, Michiara, Maria, Naldi, Nadia, Bortesi, Beatrice, Zanelli, Paola, Uliana, Vera, Giuliotti, Sara, Musolino, Antonino

“…Sensitivity to endocrine therapy of patients with estrogen receptor (ER)-positive metastatic breast cancer and germline mutations is not yet fully elucidated…”
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Biological Role and Clinical Implications of microRNAs in BRCA Mutation Carriers by Tommasi, Chiara, Pellegrino, Benedetta, Boggiani, Daniela, Sikokis, Angelica, Michiara, Maria, Uliana, Vera, Bortesi, Beatrice, Bonatti, Francesco, Mozzoni, Paola, Pinelli, Silvana, Squadrilli, Anna, Viani, Maria Vittoria, Cassi, Diana, Maglietta, Giuseppe, Meleti, Marco, Musolino, Antonino

“…Women with pathogenic germline mutations in BRCA1 and BRCA2 genes have an increased risk to develop breast and ovarian cancer. There is, however, a high…”
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Severe hypertrophic cardiomyopathy in a patient with a homozygous MYH7 gene variant by Serra, Walter, Vitetta, Giulia, Uliana, Vera, Barocelli, Federico, Barili, Valeria, Allegri, Isabella, Ardissino, Diego, Gualandi, Francesca, Percesepe, Antonio

“…Hypertrophic cardiomyopathy is an autosomal dominant disease. The main feature of this disorder is its occurrence in patients who present a left ventricular…”
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Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I by Bonatti, Francesco, Adorni, Alessia, Matichecchia, Annalisa, Mozzoni, Paola, Uliana, Vera, Pisani, Francesco, Garavelli, Livia, Graziano, Claudio, Gnoli, Maria, Carli, Diana, Bigoni, Stefania, Boschi, Elena, Martorana, Davide, Percesepe, Antonio

“…Neurofibromatosis type I, a genetic disorder due to mutations in the gene, is characterized by a high mutation rate (about 50% of the cases are de novo) but,…”
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TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa by Bocquet, Béatrice, Borday, Caroline, Erkilic, Nejla, Mamaeva, Daria, Donval, Alicia, Masson, Christel, Parain, Karine, Kaminska, Karolina, Quinodoz, Mathieu, Perea-Romero, Irene, Garcia-Garcia, Gema, Jimenez-Medina, Carla, Boukhaddaoui, Hassan, Coget, Arthur, Leboucq, Nicolas, Calzetti, Giacomo, Gandolfi, Stefano, Percesepe, Antonio, Barili, Valeria, Uliana, Vera, Delsante, Marco, Bozzetti, Francesca, Scholl, Hendrik Pn, Corton, Marta, Ayuso, Carmen, Millan, Jose M, Rivolta, Carlo, Meunier, Isabelle, Perron, Muriel, Kalatzis, Vasiliki

“…Retinitis pigmentosa (RP) is the most common inherited retinal disease (IRD) and is characterized by photoreceptor degeneration and progressive vision loss. We…”
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Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome by Marcocci, Elena, Uliana, Vera, Bruttini, Mirella, Artuso, Rosangela, Silengo, Margherita Cirillo, Zerial, Marlenka, Bergesio, Franco, Amoroso, Antonio, Savoldi, Silvana, Pennesi, Marco, Giachino, Daniela, Rombolà, Giuseppe, Fogazzi, Giovanni Battista, Rosatelli, Cristina, Martinhago, Ciro Dresch, Carmellini, Mario, Mancini, Roberta, Di Costanzo, Giuseppina, Longo, Ilaria, Renieri, Alessandra, Mari, Francesca

“…Background. Alport syndrome is a clinically and genetically heterogeneous nephropathy characterized by glomerular basement membrane lesions often associated…”
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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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A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita by Liao, Haihui, Sayers, Jane M, Wilson, Neil J, Irvine, Alan D, Mellerio, Jemima E, Baselga, Eulalia, Bayliss, Susan J, Uliana, Vera, Fimiani, Michele, Lane, E. Birgitte, McLean, W.H. Irwin, Leachman, Sancy A, Smith, Frances J.D

“…Summary Background Pachyonychia congenita (PC) is a rare autosomal dominant keratin disorder, subdivided into two major variants, PC-1 and PC-2. Predominant…”
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Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2 by Uliana, Vera, Marcocci, Elena, Mucciolo, Mafalda, Meloni, Ilaria, Izzi, Claudia, Manno, Carlo, Bruttini, Mirella, Mari, Francesca, Scolari, Francesco, Renieri, Alessandra, Salviati, Leonardo

“…Alport syndrome (ATS) is a nephropathy characterized by the association of progressive hematuric nephritis with ultrastructural changes of the glomerular…”
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Setleis Syndrome: Genetic and Clinical Findings in a New Case With Epilepsy by Giordano, Lucio, MD, Desnick, Robert J., MD PhD, Molinaro, Anna, MD, Uliana, Vera, MD, Forzano, Francesca, MD, Edelmann, Lisa, MD PhD, Nazarenko, Irene, MS, Pinelli, Lorenzo, MD, Accorsi, Patrizia, MD, Faravelli, Francesca, MD

“…Abstract Background Focal facial dermal dysplasias are a group of inherited ectodermal disorders characterized by congenital bitemporal or periauricular…”
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Clinical and molecular characterization of Italian patients affected by Cohen syndrome by Katzaki, Eleni, Pescucci, Chiara, Uliana, Vera, Papa, Filomena Tiziana, Ariani, Francesca, Meloni, Ilaria, Priolo, Manuela, Selicorni, Angelo, Milani, Donatella, Fischetto, Rita, Celle, Maria Elena, Grasso, Rita, Dallapiccola, Bruno, Brancati, Francesco, Bordignon, Marta, Tenconi, Romano, Federico, Antonio, Mari, Francesca, Renieri, Alessandra, Longo, Ilaria

“…Cohen syndrome is an autosomal recessive disorder with variability in the clinical manifestations, characterized by developmental delay, visual disability,…”
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Reverse phenotyping comes of age by Uliana, Vera, Percesepe, Antonio

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Erratum to: Clinical and molecular characterization of Italian patients affected by Cohen syndrome by Katzaki, Eleni, Pescucci, Chiara, Uliana, Vera, Papa, Filomena Tiziana, Ariani, Francesca, Meloni, Ilaria, Priolo, Manuela, Selicorni, Angelo, Milani, Donatella, Fischetto, Rita, Celle, Maria Elena, Grasso, Rita, Dallapiccola, Bruno, Brancati, Francesco, Bordignon, Marta, Tenconi, Romano, Federico, Antonio, Mari, Francesca, Renieri, Alessandra, Longo, Ilaria

“…The complete affiliations of two authors appeared incorrectly. The affiliations of A. Selicorni and D. Milani should be given as…”
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Abstract PD10-04: Prognostic significance of germline BRCA mutations in patients with HER2-positive breast cancer. Epidemiological analysis in primary BRCA screens by Viansone, Alessandro, Omarini, Claudia, Boggiani, Daniela, Sikokis, Angelica, Uliana, Vera, Pellegrino, Benedetta, Piacentini, Federico, Michiara, Maria, Musolino, Antonino

“…Abstract Background: HER2-amplified breast cancers are rare amongst BRCA mutation carriers. No data exist regarding clinico-histological characteristics and…”
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Reassessment of the NF1 variants of unknown significance found during the 20-year activity of a genetics diagnostic laboratory by Martorana, Davide, Barili, Valeria, Uliana, Vera, Ambrosini, Enrico, Riva, Matteo, De Sensi, Erika, Luppi, Elena, Messina, Corinne, Caleffi, Edoardo, Pisani, Francesco, Percesepe, Antonio

“…The finding of variants of uncertain significance (VUS) in the activity of a diagnostic genetic laboratory is a common issue, which is however provisional and…”
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Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I by Riva, Matteo, Martorana, Davide, Uliana, Vera, Caleffi, Edoardo, Boschi, Elena, Garavelli, Livia, Ponti, Giovanni, Sangiorgi, Luca, Graziano, Claudio, Bigoni, Stefania, Rocchetti, Luca Maria, Madeo, Simona, Soli, Fiorenza, Grosso, Enrico, Carli, Diana, Goldoni, Matteo, Pisani, Francesco, Percesepe, Antonio

“…Neurofibromatosis type I, a genetic condition due to pathogenic variants in the NF1 gene, is burdened by a high rate of complications, including neoplasms,…”
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Clinical and molecular characterization of patients affected by Beckwith‐Wiedemann spectrum conceived through assisted reproduction techniques by Carli, Diana, Operti, Matteo, Russo, Silvia, Cocchi, Guido, Milani, Donatella, Leoni, Chiara, Prada, Elisabetta, Melis, Daniela, Falco, Mariateresa, Spina, Jennifer, Uliana, Vera, Sara, Osimani, Sirchia, Fabio, Tarani, Luigi, Macchiaiolo, Marina, Cerrato, Flavia, Sparago, Angela, Pignata, Laura, Tannorella, Pierpaola, Cardaropoli, Simona, Bartuli, Andrea, Riccio, Andrea, Ferrero, Giovanni Battista, Mussa, Alessandro

“…The prevalence of Beckwith–Wiedemann spectrum (BWSp) is tenfold increased in children conceived through assisted reproductive techniques (ART). More than 90%…”
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