Search Results - "Percesepe, Antonio"

Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review by Spagnoli, Carlotta, Fusco, Carlo, Percesepe, Antonio, Leuzzi, Vincenzo, Pisani, Francesco

“…Despite expanding next generation sequencing technologies and increasing clinical interest into complex neurologic phenotypes associating epilepsies and…”
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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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BCR-ABL1 compound mutants: prevalence, spectrum and correlation with tyrosine kinase inhibitor resistance in a consecutive series of Philadelphia chromosome-positive leukemia patients analyzed by NGS by Soverini, Simona, Martelli, Margherita, Bavaro, Luana, De Benedittis, Caterina, Sica, Simona, Sorà, Federica, Iurlo, Alessandra, Bonifacio, Massimiliano, Pregno, Patrizia, Galimberti, Sara, Lunghi, Francesca, Albano, Francesco, D’Adda, Mariella, Crugnola, Monica, Capodanno, Isabella, Castagnetti, Fausto, Gugliotta, Gabriele, Papayannidis, Cristina, Rosti, Gianantonio, Percesepe, Antonio, Mignone, Flavio, Baccarani, Michele, Martinelli, Giovanni, Cavo, Michele

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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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Unmasking selective path integration deficits in Alzheimer's disease risk carriers by Bierbrauer, Anne, Kunz, Lukas, Gomes, Carlos A, Luhmann, Maike, Deuker, Lorena, Getzmann, Stephan, Wascher, Edmund, Gajewski, Patrick D, Hengstler, Jan G, Fernandez-Alvarez, Marina, Atienza, Mercedes, Cammisuli, Davide M, Bonatti, Francesco, Pruneti, Carlo, Percesepe, Antonio, Bellaali, Youssef, Hanseeuw, Bernard, Strange, Bryan A, Cantero, Jose L, Axmacher, Nikolai

“…Alzheimer's disease (AD) manifests with progressive memory loss and spatial disorientation. Neuropathological studies suggest early AD pathology in the…”
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Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans by Elmakky, Amira, Stanghellini, Ilaria, Landi, Antonio, Percesepe, Antonio

“…Radial deficiencies (RDs), defined as under/abnormal development or absence of any of the structures of the forearm, radial carpal bones and thumb, occur with…”
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Case Report: short stature, kidney anomalies, and cerebral aneurysms in a novel homozygous mutation in the PCNT gene associated with microcephalic osteodysplastic primordial dwarfism type II by Petraroli, Maddalena, Percesepe, Antonio, Piane, Maria, Ormitti, Francesca, Castellone, Eleonora, Gnocchi, Margherita, Messina, Giulia, Bernardi, Luca, Patianna, Viviana Dora, Esposito, Susanna Maria Roberta, Street, Maria Elisabeth

“…We report the case of a boy (aged 3 years and 7 months) with severe growth failure (length: -9.53 SDS; weight: -9.36 SDS), microcephaly, intellectual…”
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Biological parameters determining the clinical outcome of autologous cultures of limbal stem cells by Pellegrini, Graziella, Rama, Paolo, Matuska, Stanislav, Lambiase, Alessandro, Bonini, Stefano, Pocobelli, Augusto, Colabelli, Rossella Gisoldi, Spadea, Leopoldo, Fasciani, Romina, Balestrazzi, Emilio, Vinciguerra, Paolo, Rosetta, Pietro, Tortori, Achille, Nardi, Marco, Gabbriellini, Giovanna, Traverso, Carlo E, Macaluso, Claudio, Losi, Lorena, Percesepe, Antonio, Venturi, Beatrice, Corradini, Francesca, Panaras, Athanasios, Di Rocco, Antonio, Guatelli, Paolo, De Luca, Michele

“…Limbal cultures restore the corneal epithelium in patients with ocular burns. We investigated the biological parameters instrumental for their clinical…”
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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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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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MicroRNA Expression in Malignant Pleural Mesothelioma and Asbestosis: A Pilot Study by Percesepe, Antonio, Corradi, Massimo, Mutti, Antonio, Carbognani, Paolo, Gnetti, Letizia, Tiseo, Marcello, Alinovi, Rossella, Goldoni, Matteo, Ampollini, Luca, Mozzoni, Paola, Rusca, Michele

“…Background. The identification of diagnostic/prognostic biomarkers for asbestos-related diseases is relevant for early diagnosis and patient survival and may…”
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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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VACTERL (Vertebral Defects, Anal Atresia, Tracheoesophageal Fistula with Esophageal Atresia, Cardiac Defects, Renal and Limb Anomalies) Association: Disease Spectrum in 25 Patients Ascertained for Their Upper Limb Involvement by Carli, Diana, MD, Garagnani, Lorenzo, MD, Lando, Mario, MD, Fairplay, Tracy, PT, Bernasconi, Sergio, MD, Landi, Antonio, MD, Percesepe, Antonio, MD

“…Objective To review the clinical characteristics in a series of 25 patients with VACTERL (vertebral defects, anal atresia, tracheoesophageal fistula with…”
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Filling the gap: A thorough investigation for the genetic diagnosis of unsolved polyposis patients with monoallelic MUTYH pathogenic variants by Dell’Elice, Anastasia, Cini, Giulia, Fornasarig, Mara, Armelao, Franco, Barana, Daniela, Bianchi, Francesca, Casalis Cavalchini, Guido Claudio, Maffè, Antonella, Mammi, Isabella, Pedroni, Monica, Percesepe, Antonio, Sorrentini, Italo, Tibiletti, Mariagrazia, Maestro, Roberta, Quaia, Michele, Viel, Alessandra

“…Backgrounds MUTYH‐associated polyposis (MAP) is an autosomal recessive disease caused by biallelic pathogenic variants (PV) of the MUTYH gene. The aim of this…”
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Prenatal diagnosis and follow‐up of a case of branchio‐oto‐renal syndrome displays renal growth impairment after the second trimester by Bertucci, Emma, Mazza, Vincenzo, Lugli, Licia, Ferrari, Fabrizio, Stanghellini, Ilaria, Percesepe, Antonio

“…Branchio‐oto‐renal syndrome combines branchial arch defects, hearing impairment and renal malformations or hypoplasia. Due to the high phenotypic variability,…”
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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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Genetic Basis of Congenital Upper Limb Anomalies: Analysis of 487 Cases of a Specialized Clinic by Carli, Diana, Fairplay, Tracy, Ferrari, Paola, Sartini, Silvana, Lando, Mario, Garagnani, Lorenzo, Di Gennaro, Giovanni Luigi, Di Pancrazio, Luciana, Bianconi, Giorgia, Elmakky, Amira, Bernasconi, Sergio, Landi, Antonio, Percesepe, Antonio

“…BACKGROUND Specific data regarding the frequencies of the congenital upper limb anomalies (CULA) according to their etiology are hardly available due to the…”
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Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations by Grossi, Serena, Regis, Stefano, Biancheri, Roberta, Mort, Matthew, Lualdi, Susanna, Bertini, Enrico, Uziel, Graziella, Boespflug-Tanguy, Odile, Simonati, Alessandro, Corsolini, Fabio, Demir, Ercan, Marchiani, Valentina, Percesepe, Antonio, Stanzial, Franco, Rossi, Andrea, Vaurs-Barrière, Catherine, Cooper, David N, Filocamo, Mirella

“…The breadth of the clinical spectrum underlying Pelizaeus-Merzbacher disease and spastic paraplegia type 2 is due to the extensive allelic heterogeneity in the…”
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A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX by Ansari, Morad, Rainger, Jacqueline K, Murray, Jennie E, Hanson, Isabel, Firth, Helen V, Mehendale, Felicity, Amiel, Jeanne, Gordon, Christopher T, Percesepe, Antonio, Mazzanti, Laura, Fryer, Alan, Ferrari, Paola, Devriendt, Koenraad, Temple, I. Karen, FitzPatrick, David R

“…Abstract Pierre Robin sequence (PRS) is an aetiologically distinct subgroup of cleft palate. We aimed to define the critical genomic interval from five…”
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Prenatal diagnosis and postnatal follow-up of a child with mosaic trisomy 22 with several levels of mosaicism in different tissues by Mazza, Vincenzo, Latella, Silvia, Fenu, Valentina, Ferrari, Paola, Bonilauri, Carlotta, Santucci, Sandra, Percesepe, Antonio

“…We report on the case of a patient with mosaic trisomy 22, who was diagnosed prenatally by amniocentesis during the 16th week of pregnancy. In the foetus,…”
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