檢索結果 - Bernardini, Laura

Clinical utility gene card for: Mayer–Rokitansky–Küster–Hauser syndrome 由 Morcel, Karine, Dallapiccola, Bruno, Pasquier, Laurent, Watrin, Tanguy, Bernardini, Laura, Guerrier, Daniel

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Epilepsy phenotype in patients with Xp22.31 microduplication 由 Brinciotti, Mario, Fioriello, Francesca, Mittica, Antonio, Bernardini, Laura, Goldoni, Marina, Matricardi, Maria

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Identification of a De Novo Xq26.2 Microduplication Encompassing FIRRE Gene in a Child with Intellectual Disability 由 Miolo, Gianmaria, Bernardini, Laura, Capalbo, Anna, Favia, Anna, Goldoni, Marina, Pivetta, Barbara, Tessitori, Giovanni, Corona, Giuseppe

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Neurodevelopmental Impairment As the Main Phenotypic Hallmark Associated with the Translocation t(7;10)(7p22.3;q26.11) 由 Mastrangelo, Mario, Torres, Barbara, De Vita, Gloria, Goldoni, Marina, De Giorgi, Agnese, Bernardini, Laura, Leuzzi, Vincenzo

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16p subtelomeric duplication: a clinically recognizable syndrome 由 Digilio, Maria Cristina, Bernardini, Laura, Capalbo, Anna, Capolino, Rossella, Gagliardi, Maria Giulia, Marino, Bruno, Novelli, Antonio, Dallapiccola, Bruno

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Koolen‐de Vries syndrome in a 63‐year‐old woman: Report of the oldest patient and a review of the adult phenotype 由 Farnè, Marianna, Bernardini, Laura, Capalbo, Anna, Cavarretta, Giusy, Torres, Barbara, Sanchini, Mariabeatrice, Fini, Sergio, Ferlini, Alessandra, Bigoni, Stefania

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Case Report: A Novel Homozygous Missense Variant of FBN3 Supporting It Is a New Candidate Gene Causative of a Bardet–Biedl Syndrome–Like Phenotype 由 Genovesi, Maria Luce, Torres, Barbara, Goldoni, Marina, Salvo, Eliana, Cesario, Claudia, Majolo, Massimo, Mazza, Tommaso, Piscopo, Carmelo, Bernardini, Laura

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Feasibility of BRCA1/2 Testing of Formalin-Fixed and Paraffin-Embedded Pancreatic Tumor Samples: A Consecutive Clinical Series 由 Bruno, Rossella, Sensi, Elisa, Lupi, Cristiana, Giordano, Mirella, Bernardini, Laura, Vivaldi, Caterina, Fornaro, Lorenzo, Vasile, Enrico, Campani, Daniela, Fontanini, Gabriella

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Chromosomal Microarray Analysis in Fetuses Detected with Isolated Cardiovascular Malformation: A Multicenter Study, Systematic Review of the Literature and Meta-Analysis 由 Mastromoro, Gioia, Khaleghi Hashemian, Nader, Guadagnolo, Daniele, Giuffrida, Maria Grazia, Torres, Barbara, Bernardini, Laura, Ventriglia, Flavia, Piacentini, Gerardo, Pizzuti, Antonio

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Equivalent Efficacy but Different Safety Profiles of Gemcitabine Plus Nab-Paclitaxel and FOLFIRINOX in Metastatic Pancreatic Cancer 由 Rapposelli, Ilario Giovanni, Casadei-Gardini, Andrea, Vivaldi, Caterina, Bartolini, Giulia, Bernardini, Laura, Passardi, Alessandro, Frassineti, Giovanni Luca, Massa, Valentina, Cucchetti, Alessandro

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Design, Construction and Validation of Targeted BAC Array-Based CGH Test for Detecting the Most Commons Chromosomal Abnormalities 由 Gambardella, Stefano, Ciabattoni, Erika, Motta, Francesca, Stoico, Giusy, Gullotta, Francesca, Biancolella, Michela, Nardone, Anna Maria, Novelli, Antonio, Brunetti, Ercole, Bernardini, Laura, Novelli, Giuseppe

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High-resolution SNP arrays in mental retardation diagnostics: how much do we gain? 由 Bernardini, Laura, Alesi, Viola, Loddo, Sara, Novelli, Antonio, Bottillo, Irene, Battaglia, Agatino, Digilio, Maria Cristina, Zampino, Giuseppe, Ertel, Adam, Fortina, Paolo, Surrey, Saul, Dallapiccola, Bruno

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De Novo Inverted Duplication Deletion of 4p in a 14-Week-Old Male Fetus Aborted Due to Multiple Anomalies 由 Fontana, Paolo, Bernardini, Laura, Lombardi, Cinzia, Giuffrida, Maria Grazia, Ciavarella, Maria, Capalbo, Anna, Maioli, Marianna, Scarano, Francesca, Cantalupo, Giuseppina, Falco, Mariateresa, Scarano, Gioacchino, Lonardo, Fortunato

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3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature 由 Nardecchia, Francesca, Caciotti, Anna, Giovanniello, Teresa, De Leo, Sabrina, Ferri, Lorenzo, Galosi, Serena, Santagata, Silvia, Torres, Barbara, Bernardini, Laura, Carducci, Claudia, Morrone, Amelia, Leuzzi, Vincenzo

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Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome 由 Altieri, Filomena, D'Anzi, Angela, Martello, Francesco, Tardivo, Silvia, Spasari, Iolanda, Ferrari, Daniela, Bernardini, Laura, Lamorte, Giuseppe, Mazzoccoli, Gianluigi, Valente, Enza Maria, Vescovi, Angelo Luigi, Rosati, Jessica

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Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: Case report and literature review 由 Arghir, Aurora, Papuc, Sorina Mihaela, Tutulan‐Cunita, Andreea‐Cristina, Erbescu, Alina, Loddo, Sara, Genovese, Silvia, Ciocca, Laura, Goldoni, Marina, Piscopo, Carmelo, Bernardini, Laura, Novelli, Antonio, Budisteanu, Magdalena

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Correlating Neuroimaging and CNVs Data: 7 Years of Cytogenomic Microarray Analysis on Patients Affected by Neurodevelopmental Disorders 由 Milone, Roberta, Cesario, Claudia, Goldoni, Marina, Pasquariello, Rosa, Fusilli, Caterina, Giovannetti, Agnese, Giglio, Sabrina, Novelli, Antonio, Caputo, Viviana, Cioni, Giovanni, Mazza, Tommaso, Battaglia, Agatino, Bernardini, Laura, Battini, Roberta

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Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports 由 Bernardini, Laura, Gimelli, Stefania, Gervasini, Cristina, Carella, Massimo, Baban, Anwar, Frontino, Giada, Barbano, Giancarlo, Divizia, Maria Teresa, Fedele, Luigi, Novelli, Antonio, Béna, Frédérique, Lalatta, Faustina, Miozzo, Monica, Dallapiccola, Bruno

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Pontine tegmental cap dysplasia: developmental and cognitive outcome in three adolescent patients 由 Briguglio, Marilena, Pinelli, Lorenzo, Giordano, Lucio, Ferraris, Alessandro, Germanò, Eva, Micheletti, Serena, Severino, Mariasavina, Bernardini, Laura, Loddo, Sara, Tortorella, Gaetano, Ormitti, Francesca, Gasparotti, Roberto, Rossi, Andrea, Valente, Enza Maria

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Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy–Walker malformation 由 Traversa, Alice, Bernardo, Silvia, Paiardini, Alessandro, Giovannetti, Agnese, Marchionni, Enrica, Genovesi, Maria Luce, Guadagnolo, Daniele, Torres, Barbara, Paolacci, Stefano, Bernardini, Laura, Mazza, Tommaso, Carella, Massimo, Caputo, Viviana, Pizzuti, Antonio

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