Хайлтын үр дүнгүүд - Maitz, Silvia

Clinical and Molecular Diagnosis of Beckwith-Wiedemann Syndrome with Single- or Multi-Locus Imprinting Disturbance -н Fontana, Laura, Tabano, Silvia, Maitz, Silvia, Colapietro, Patrizia, Garzia, Emanuele, Gerli, Alberto Giovanni, Sirchia, Silvia Maria, Miozzo, Monica

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14q32.3-qter trisomic segment: a case report and literature review -н Villa, Nicoletta, Scatigno, Agnese, Redaelli, Serena, Conconi, Donatella, Cianci, Paola, Farina, Clotilde, Fossati, Chiara, Dalprà, Leda, Maitz, Silvia, Selicorni, Angelo

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Clinical pitfalls in the diagnosis of segmental overgrowth syndromes: a child with the c.2740G > A mutation in PIK3CA gene -н Maguolo, Alice, Antoniazzi, Franco, Spano, Alice, Fiorini, Elena, Gaudino, Rossella, Mauro, Margherita, Cantalupo, Gaetano, Biban, Paolo, Maitz, Silvia, Cavarzere, Paolo

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Genetic test for Mendelian fatigue and muscle weakness syndromes -н Kiani, Aysha Karim, Amato, Bruno, Maitz, Silvia, Nodari, Savina, Benedetti, Sabrina, Agostini, Francesca, Lorusso, Lorenzo, Capelli, Enrica, Dautaj, Astrit, Bertelli, Matteo

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Profound alterations of the chromatin architecture at chromosome 11p15.5 in cells from Beckwith-Wiedemann and Silver-Russell syndromes patients -н Rovina, Davide, La Vecchia, Marta, Cortesi, Alice, Fontana, Laura, Pesant, Matthieu, Maitz, Silvia, Tabano, Silvia, Bodega, Beatrice, Miozzo, Monica, Sirchia, Silvia M.

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SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome -н Crippa, Milena, Bestetti, Ilaria, Maitz, Silvia, Weiss, Karin, Spano, Alice, Masciadri, Maura, Smithson, Sarah, Larizza, Lidia, Low, Karen, Cohen, Lior, Finelli, Palma

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The Potential Synergic Effect of a Complex Pattern of Multiple Inherited Genetic Variants as a Pathogenic Factor for Ovarian Dysgenesis: A Case Report -н Cattoni, Alessandro, Spano, Alice, Tulone, Anna, Boneschi, Annalisa, Masera, Nicoletta, Maitz, Silvia, Di Blasio, Anna Maria, Persani, Luca, Guizzardi, Fabiana, Rossetti, Raffaella

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Germ-Line TP53 Mutation in an Adolescent With CMML/Atypical CML and Familiar Cancer Predisposition -н Nucera, Silvia, Fazio, Grazia, Piazza, Rocco, Rigamonti, Silvia, Fontana, Diletta, Gambacorti Passerini, Carlo, Maitz, Silvia, Rovelli, Attilio, Biondi, Andrea, Cazzaniga, Giovauni, Balduzzi, Adriana

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Refining the Phenotype of Recurrent Rearrangements of Chromosome 16 -н Redaelli, Serena, Maitz, Silvia, Crosti, Francesca, Sala, Elena, Villa, Nicoletta, Spaccini, Luigina, Selicorni, Angelo, Rigoldi, Miriam, Conconi, Donatella, Dalprà, Leda, Roversi, Gaia, Bentivegna, Angela

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Safety and immunogenicity of Fc‐EDA, a recombinant ectodysplasin A1 replacement protein, in human subjects -н Körber, Iris, Klein, Ophir D., Morhart, Patrick, Faschingbauer, Florian, Grange, Dorothy K., Clarke, Angus, Bodemer, Christine, Maitz, Silvia, Huttner, Kenneth, Kirby, Neil, Durand, Caroline, Schneider, Holm

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Quantitative DNA methylation analysis improves epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome -н Calvello, Mariarosaria, Tabano, Silvia, Colapietro, Patrizia, Maitz, Silvia, Pansa, Alessandra, Augello, Claudia, Lalatta, Faustina, Gentilin, Barbara, Spreafico, Filippo, Calzari, Luciano, Perotti, Daniela, Larizza, Lidia, Russo, Silvia, Selicorni, Angelo, Sirchia, Silvia M, Miozzo, Monica

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Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes -н Cogliati, Francesca, Giorgini, Valentina, Masciadri, Maura, Bonati, Maria Teresa, Marchi, Margherita, Cracco, Irene, Gentilini, Davide, Peron, Angela, Savini, Miriam Nella, Spaccini, Luigina, Scelsa, Barbara, Maitz, Silvia, Veneselli, Edvige, Prato, Giulia, Pintaudi, Maria, Moroni, Isabella, Vignoli, Aglaia, Larizza, Lidia, Russo, Silvia

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De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity -н Cristofoli, Francesca, Moss, Tonya, Moore, Hannah W., Devriendt, Koen, Flanagan-Steet, Heather, May, Melanie, Jones, Julie, Roelens, Filip, Fons, Carmen, Fernandez, Anna, Martorell, Loreto, Selicorni, Angelo, Maitz, Silvia, Vitiello, Giuseppina, Van der Hoeven, Gerd, Skinner, Steven A., Bollen, Mathieu, Vermeesch, Joris R., Steet, Richard, Van Esch, Hilde

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A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes -н Russo, Silvia, Calzari, Luciano, Mussa, Alessandro, Mainini, Ester, Cassina, Matteo, Di Candia, Stefania, Clementi, Maurizio, Guzzetti, Sara, Tabano, Silvia, Miozzo, Monica, Sirchia, Silvia, Finelli, Palma, Prontera, Paolo, Maitz, Silvia, Sorge, Giovanni, Calcagno, Annalisa, Maghnie, Mohamad, Divizia, Maria Teresa, Melis, Daniela, Manfredini, Emanuela, Ferrero, Giovanni Battista, Pecile, Vanna, Larizza, Lidia

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Erratum to: A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes -н Russo, Silvia, Calzari, Luciano, Mussa, Alessandro, Mainini, Ester, Cassina, Matteo, Di Candia, Stefania, Clementi, Maurizio, Guzzetti, Sara, Tabano, Silvia, Miozzo, Monica, Sirchia, Silvia, Finelli, Palma, Prontera, Paolo, Maitz, Silvia, Sorge, Giovanni, Calcagno, Annalisa, Maghnie, Mohamad, Divizia, Maria Teresa, Melis, Daniela, Manfredini, Emanuela, Ferrero, Giovanni Battista, Pecile, Vanna, Larizza, Lidia

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Nomenclature and Definition in Asymmetric Regional Body Overgrowth -н Kalish, Jennifer M, Biesecker, Leslie G, Brioude, Frederic, Deardorff, Matthew A, Di Cesare-Merlone, Alessandra, Druley, Todd, Ferrero, Giovanni B, Lapunzina, Pablo, Larizza, Lidia, Maas, Saskia, Macchiaiolo, Marina, Maher, Eamonn R, Maitz, Silvia, Martinez-Agosto, Julian A., Mussa, Alessandro, Robinson, Peter, Russo, Silvia, Selicorni, Angelo, Hennekam, Raoul C

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Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management -н Pezzoli, Laura, Pezzani, Lidia, Bonanomi, Ezio, Marrone, Chiara, Scatigno, Agnese, Cereda, Anna, Bedeschi, Maria Francesca, Selicorni, Angelo, Gasperini, Serena, Bini, Paolo, Maitz, Silvia, Maccioni, Carla, Pedron, Cristina, Colombo, Lorenzo, Marchetti, Daniela, Bellini, Matteo, Lincesso, Anna Rita, Perego, Loredana, Pingue, Monica, Della Malva, Nunzia, Mangili, Giovanna, Ferrazzi, Paolo, Iascone, Maria

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12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature -н Recalcati, Maria Paola, Catusi, Ilaria, Garzo, Maria, Redaelli, Serena, Massimello, Marta, Maitz, Silvia Beatrice, Gentile, Mattia, Ponzi, Emanuela, Orsini, Paola, Zilio, Anna, Montaldi, Annamaria, Calò, Annapaola, Capra, Anna Paola, Briuglia, Silvana, La Rosa, Maria Angela, Grillo, Lucia, Romano, Corrado, Bianca, Sebastiano, Malacarne, Michela, Busè, Martina, Piccione, Maria, Larizza, Lidia

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Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome -н Bestetti, Ilaria, Crippa, Milena, Sironi, Alessandra, Tumiatti, Francesca, Masciadri, Maura, Smeland, Marie Falkenberg, Naik, Swati, Murch, Oliver, Bonati, Maria Teresa, Spano, Alice, Cattaneo, Elisa, Mariani, Milena, Gotta, Fabio, Crosti, Francesca, Cavalli, Pietro, Pantaleoni, Chiara, Natacci, Federica, Bedeschi, Maria Francesca, Milani, Donatella, Maitz, Silvia, Selicorni, Angelo, Spaccini, Luigina, Peron, Angela, Russo, Silvia, Larizza, Lidia, Low, Karen, Finelli, Palma

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Bi‐allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease -н Cappuccio, Gerarda, Ceccatelli Berti, Camilla, Baruffini, Enrico, Sullivan, Jennifer, Shashi, Vandana, Jewett, Tamison, Stamper, Tara, Maitz, Silvia, Canonico, Francesco, Revah‐Politi, Anya, Kupchik, Gabriel S., Anyane‐Yeboa, Kwame, Aggarwal, Vimla, Benneche, Andreas, Bratland, Eirik, Berland, Siren, D'Arco, Felice, Alves, Cesar A., Vanderver, Adeline, Longo, Daniela, Bertini, Enrico, Torella, Annalaura, Nigro, Vincenzo, D'Amico, Alessandra, van der Knaap, Marjo S., Goffrini, Paola, Brunetti‐Pierri, Nicola

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