Search Results - "Alesi, Viola"

Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies by Grati, Francesca Romana, Molina Gomes, Denise, Ferreira, Jose Carlos Pinto B., Dupont, Celine, Alesi, Viola, Gouas, Laetitia, Horelli-Kuitunen, Nina, Choy, Kwong Wai, García-Herrero, Sandra, de la Vega, Alberto Gonzalez, Piotrowski, Krzysztof, Genesio, Rita, Queipo, Gloria, Malvestiti, Barbara, Hervé, Bérénice, Benzacken, Brigitte, Novelli, Antonio, Vago, Philippe, Piippo, Kirsi, Leung, Tak Yeung, Maggi, Federico, Quibel, Thibault, Tabet, Anne Claude, Simoni, Giuseppe, Vialard, François

“…Objectives The implementation of chromosomal microarray analysis (CMA) in prenatal testing for all patients has not achieved a consensus. Technical…”
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A New Intronic Variant in ECEL1 in Two Patients with Distal Arthrogryposis Type 5D by Alesi, Viola, Sessini, Francesca, Genovese, Silvia, Calvieri, Giusy, Sallicandro, Ester, Ciocca, Laura, Mingoia, Maura, Novelli, Antonio, Moi, Paolo

“…Distal Arthrogryposis type 5D (DA5D) is characterized by congenital contractures involving the distal joints, short stature, scoliosis, ptosis, astigmatism,…”
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Parent-of-Origin Effects in 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome by Davis, Kyle W, Serrano, Moises, Loddo, Sara, Robinson, Catherine, Alesi, Viola, Dallapiccola, Bruno, Novelli, Antonio, Butler, Merlin G

“…To identify whether parent-of-origin effects (POE) of the 15q11.2 BP1-BP2 microdeletion are associated with differences in clinical features in individuals…”
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The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes by Travaglini, Lorena, Aiello, Chiara, Stregapede, Fabrizia, D’Amico, Adele, Alesi, Viola, Ciolfi, Andrea, Bruselles, Alessandro, Catteruccia, Michela, Pizzi, Simone, Zanni, Ginevra, Loddo, Sara, Barresi, Sabina, Vasco, Gessica, Tartaglia, Marco, Bertini, Enrico, Nicita, Francesco

“…Hereditary spastic paraplegias (HSP) are clinical and genetic heterogeneous diseases with more than 80 disease genes identified thus far. Studies on large…”
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A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy by Orlando, Valeria, Di Tommaso, Silvia, Alesi, Viola, Loddo, Sara, Genovese, Silvia, Catino, Giorgia, Martucci, Licia, Roberti, Maria Cristina, Trivisano, Marina, Dentici, Maria Lisa, Specchio, Nicola, Dallapiccola, Bruno, Ferretti, Alessandro, Novelli, Antonio

“…Complex genomic rearrangements (CGRs) are structural variants arising from two or more chromosomal breaks, which are challenging to characterize by…”
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A Case of CDKL5 Deficiency Due to an X Chromosome Pericentric Inversion: Delineation of Structural Rearrangements as an Overlooked Recurrent Pathological Mechanism by Lombardo, Antonietta, Sinibaldi, Lorenzo, Genovese, Silvia, Catino, Giorgia, Mei, Valerio, Pompili, Daniele, Sallicandro, Ester, Falasca, Roberto, Liambo, Maria Teresa, Faggiano, Maria Vittoria, Roberti, Maria Cristina, Di Donato, Maddalena, Vitelli, Anna, Russo, Serena, Giannini, Rosalinda, Micalizzi, Alessia, Pietrafusa, Nicola, Digilio, Maria Cristina, Novelli, Antonio, Fusco, Lucia, Alesi, Viola

“…CDKL5 deficiency disorder (CDD) is an X-linked dominant epileptic encephalopathy, characterized by early-onset and drug-resistant seizures, psychomotor delay,…”
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Case report: A new de novo 6q21q22.1 interstitial deletion case in a girl with cerebellar vermis hypoplasia and developmental delay and literature review by Minotti, Chiara, Graziani, Ludovico, Sallicandro, Ester, Digilio, Maria Cristina, Falasca, Roberto, Alesi, Viola, Novelli, Giuseppe, Dentici, Maria Lisa, Loddo, Sara, Novelli, Antonio

“…Interstitial deletions involving 6q chromosomal region are rare. Less than 30 patients have been described to date, and fewer have been characterized by…”
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PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports by Montanaro, Federica Alice Maria, Mandarino, Alessandra, Alesi, Viola, Schwartz, Charles, Sepulveda, Daniela Judith Claps, Skinner, Cindy, Friez, Michael, Piccolo, Gabriele, Novelli, Antonio, Zanni, Ginevra, Dentici, Maria Lisa, Vicari, Stefano, Alfieri, Paolo

“…X-linked gene has recently been pointed as one of the most interesting candidates for involvement in neurodevelopmental disorders (NDs), such as intellectual…”
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Corrigendum: PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports by Montanaro, Federica Alice Maria, Mandarino, Alessandra, Alesi, Viola, Schwartz, Charles, Sepulveda, Daniela Judith Claps, Skinner, Cindy, Friez, Michael, Piccolo, Gabriele, Novelli, Antonio, Zanni, Ginevra, Dentici, Maria Lisa, Vicari, Stefano, Alfieri, Paolo

“…[This corrects the article DOI: 10.3389/fpsyt.2023.1327802.]…”
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Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis by Alesi, Viola, Dentici, Maria Lisa, Genovese, Silvia, Loddo, Sara, Bellacchio, Emanuele, Orlando, Valeria, Di Tommaso, Silvia, Catino, Giorgia, Calacci, Chiara, Calvieri, Giusy, Pompili, Daniele, Ubertini, Graziamaria, Dallapiccola, Bruno, Capolino, Rossella, Novelli, Antonio

“…We report on a patient born to consanguineous parents, presenting with Growth Hormone Deficiency (GHD) and osteoporosis. SNP-array analysis and exome…”
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Deep Intronic LINE-1 Insertions in NF1 : Expanding the Spectrum of Neurofibromatosis Type 1-Associated Rearrangements by Alesi, Viola, Genovese, Silvia, Lepri, Francesca Romana, Catino, Giorgia, Loddo, Sara, Orlando, Valeria, Di Tommaso, Silvia, Morgia, Alessandra, Martucci, Licia, Di Donato, Maddalena, Digilio, Maria Cristina, Dallapiccola, Bruno, Novelli, Antonio, Capolino, Rossella

“…Neurofibromatosis type 1 is an autosomal-dominant condition caused by gene inactivation. Clinical diagnosis is corroborated by genetic tests on gDNA and cDNA,…”
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Neurological and Neuroimaging Features of CYB5R3 -Related Recessive Hereditary Methemoglobinemia Type II by Nicita, Francesco, Sabatini, Letizia, Alesi, Viola, Lucignani, Giulia, Sallicandro, Ester, Sferra, Antonella, Bertini, Enrico, Zanni, Ginevra, Palumbo, Giuseppe

“…Recessive hereditary methemoglobinemia (RHM) due to NADH-cytochrome b5 reductase deficiency is a rare disease caused by pathogenic variants in . Unlike type I,…”
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Next Generation Sequencing Uncovers a Rare Case of X-linked Ichthyosis in an Adopted Girl Homozygous for a Novel Nonsense Mutation in the STS Gene by Diociaiuti, Andrea, Angioni, Adriano, Pisaneschi, Elisa, Margollicci, Maria, Boldrini, Renata, Alesi, Viola, Novelli, Antonio, Zambruno, Giovanna, El Hachem, May

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Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1 by Travaglini, Lorena, Aiello, Chiara, Alesi, Viola, Loddo, Sara, Novelli, Antonio, Tozzi, Giulia, Bertini, Enrico, Leuzzi, Vincenzo, Brancati, Francesco

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Cardiovascular Involvement in Pediatric FLNC Variants: A Case Series of Fourteen Patients by Baban, Anwar, Alesi, Viola, Magliozzi, Monia, Parlapiano, Giovanni, Genovese, Silvia, Cicenia, Marianna, Loddo, Sara, Lodato, Valentina, Di Chiara, Luca, Fattori, Fabiana, D’Amico, Adele, Francalanci, Paola, Amodeo, Antonio, Novelli, Antonio, Drago, Fabrizio

“…Filamin C is a protein specifically expressed in myocytes and cardiomyocytes and is involved in several biological functions, including sarcomere contractile…”
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Reassessment of the 12q15 deletion syndrome critical region by Viola, Alesi, Sara, Loddo, Marta, Grispo, Simona, Riccio, Costantino, Montella Andrea, Bruno, Dallapiccola, Lucia, Ulgheri, Antonio, Novelli

“…Abstract Interstitial deletions of the long arm of chromosome 12 are rare and only few cases have been reported in literature so far, with different phenotypic…”
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Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome by Calcagni, Giulio, Ferrigno, Federica, Franceschini, Alessio, Dentici, Maria Lisa, Capolino, Rossella, Sinibaldi, Lorenzo, Minotti, Chiara, Micalizzi, Alessia, Alesi, Viola, Novelli, Antonio, Baban, Anwar, Parlapiano, Giovanni, Coviello, Domenico, Versacci, Paolo, Putotto, Carolina, Chinali, Marcello, Drago, Fabrizio, Bartuli, Andrea, Marino, Bruno, Digilio, Maria Cristina

“…Sotos syndrome is an autosomal dominant condition characterized by overgrowth with advanced bone age, macrodolicocephaly, motor developmental delays and…”
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First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report by Baban, Anwar, Magliozzi, Monia, Loeys, Bart, Adorisio, Rachele, Alesi, Viola, Secinaro, Aurelio, Corica, Bernadette, Vricella, Luca, Dietz, Harry C, Drago, Fabrizio, Novelli, Antonio, Amodeo, Antonio

“…Loeys-Dietz syndrome (LDS) is a rare multisystemic disorder characterized by vascular and skeletal abnormalities, with considerable intra- and interfamilial…”
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1p36 Deletion Syndrome and the Aorta: A Report of Three New Patients and a Literature Review by Lodato, Valentina, Orlando, Valeria, Alesi, Viola, Di Tommaso, Silvia, Bengala, Mario, Parlapiano, Giovanni, Agnolucci, Elisa, Cicenia, Marianna, Calì, Federica, Digilio, Maria Cristina, Drago, Fabrizio, Novelli, Antonio, Baban, Anwar

“…Background: Monosomy 1p36 syndrome is now considered the most common terminal deletion syndrome, with an estimated incidence of 1 in 5000. Cardiac involvement…”
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7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral Profiling by Dentici, Maria Lisa, Bergonzini, Paola, Scibelli, Francesco, Caciolo, Cristina, De Rose, Paola, Cumbo, Francesca, Alesi, Viola, Capolino, Rossella, Zanni, Ginevra, Sinibaldi, Lorenzo, Novelli, Antonio, Tartaglia, Marco, Digilio, Maria Cristina, Dallapiccola, Bruno, Vicari, Stefano, Alfieri, Paolo

“…7q11.23 Microduplication (dup7q11.23) syndrome is a rare autosomal dominant disorder due to a recurring 1.5 to 1.8 Mb duplication of the Williams-Beuren…”
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