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收藏分享 收藏 An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype与Cornelia de Lange综合征表型相关的AFF2基因内的基因内复制
Lucia-Campos, Cristina; Parenti, Ilaria; Latorre-Pellicer, Ana; Gil-Salvador, Marta; Bestetti, Ilaria; Finelli, Palma; Larizza, Lidia; Arnedo, Maria; Ayerza-Casas, Ariadna; Del Rincon, Julia; Trujillano, Laura; Morte, Beatriz; Perez-Jurado, Luis A.; Lapunzina, Pablo; Leitao, Elsa; Beygo, Jasmin; Lich, Christina; Kilpert, Fabian; Kaya, Sabine; Depienne, Christel; Kaiser, Frank J.; Ramos, Feliciano J.; Puisac, Beatriz; Pie, Juan 分享 收藏 Distinguishing Genetic Alterations Versus (Epi)Mutations in Silver-Russell Syndrome and Focus on the IGF1R GeneVimercati, Alessandro; Tannorella, Pierpaola; Guzzetti, Sara; Calzari, Luciano; Gentilini, Davide; Manfredini, Emanuela; Gori, Giulia; Gaudino, Rossella; Antona, Vincenzo; Piccione, Maria; Daolio, Cecilia; Auricchio, Renata; Sirchia, Fabio; Minelli, Antonella; Rossi, Elena; Bellini, Melissa; Biasucci, Giacomo; Raucci, Annalisa Russo; Pozzobon, Gabriella; Patti, Giuseppa; Napoli, Flavia; Larizza, Lidia; Maghnie, Mohamad; Russo, Silvia 分享 收藏 Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statementLacombe, Didier; Bloch-Zupan, Agnes; Bredrup, Cecilie; Cooper, Edward B.; Houge, Sofia Douzgou; Garcia-Minaur, Sixto; Kayserili, Hulya; Larizza, Lidia; Gonzalez, Vanesa Lopez; Menke, Leonie A.; Milani, Donatella; Saettini, Francesco; Stevens, Cathy A.; Tooke, Lloyd; van der Zee, Jill A.; Van Genderen, Maria M.; Van-Gils, Julien; Waite, Jane; Adrien, Jean-Louis; Bartsch, Oliver; Bitoun, Pierre; Bouts, Antonia H. M.; Cueto-Gonzalez, Anna M.; Dominguez-Garrido, Elena; Duijkers, Floor A.; Fergelot, Patricia; Halstead, Elisabeth; Huisman, Sylvia A.; Meossi, Camilla; Mullins, Jo; Nikkel, Sarah M.; Oliver, Chris; Prada, Elisabetta; Rei, Alessandra; Riddle, Ilka; Rodriguez-Fonseca, Cristina; Pena, Rebecca Rodriguez; Russell, Janet; Saba, Alicia; Santos-Simarro, Fernando; Simpson, Brittany N.; Smith, David F.; Stevens, Markus F.; Szakszon, Katalin; Taupiac, Emmanuelle; Totaro, Nadia; Palafoll, Irene Valenzuena; van der Kaay, Danielle C. M.; Van Wijk, Michiel P.; Vyshka, Klea; Wiley, Susan; Hennekam, Raoul C. 分享 收藏 A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 alleleSironi, Alessandra; Bestetti, Ilaria; Masciadri, Maura; Tumiatti, Francesca; Crippa, Milena; Pantaleoni, Chiara; Russo, Silvia; D'Arrigo, Stefano; Milani, Donatella; Larizza, Lidia; Finelli, Palma 分享 收藏 Germline variants in genes of the subcortical maternal complex and Multilocus Imprinting Disturbance are associated with miscarriage/infertility or Beckwith-Wiedemann progenyTannorella, Pierpaola; Calzari, Luciano; Daolio, Cecilia; Mainini, Ester; Vimercati, Alessandro; Gentilini, Davide; Soli, Fiorenza; Pedrolli, Annalisa; Bonati, Maria Teresa; Larizza, Lidia; Russo, Silvia 分享 收藏 分享 收藏 分享 收藏 Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiencyBestetti, I; Barbieri, C.; Sironi, A.; Specchia, V; Yatsenko, S. A.; De Donno, M. D.; Caslini, C.; Gentilini, D.; Crippa, M.; Larizza, L.; Marozzi, A.; Rajkovic, A.; Toniolo, D.; Bozzetti, M. P.; Finelli, P. 分享 收藏 Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromesDi Fede, Elisabetta; Massa, Valentina; Augello, Bartolomeo; Squeo, Gabriella; Scarano, Emanuela; Perri, Anna Maria; Fischetto, Rita; Causio, Francesco Andrea; Zampino, Giuseppe; Piccione, Maria; Curridori, Elena; Mazza, Tommaso; Castellana, Stefano; Larizza, Lidia; Ghelma, Filippo; Colombo, Elisa Adele; Gandini, Maria Chiara; Castori, Marco; Merla, Giuseppe; Milani, Donatella; Gervasini, Cristina 分享 收藏 A familial t(4;8) translocation segregates with epilepsy and migraine with auraCrippa, Milena; Malatesta, Paola; Bonati, Maria; Trapasso, Francesco; Fortunato, Francesco; Annesi, Grazia; Larizza, Lidia; Labate, Angelo; Finelli, Palma; Perrotti, Nicola; Gambardella, Antonio 分享 收藏 Mutations in CREBBP and EP300 genes affect DNA repair of oxidative damage in Rubinstein-Taybi syndrome cellsDutto, Ilaria; Scalera, Claudia; Tillhon, Micol; Ticli, Giulio; Passaniti, Gianluca; Cazzalini, Ornella; Savio, Monica; Stivala, Lucia A.; Gervasini, Cristina; Larizza, Lidia; Prosperi, Ennio 分享 收藏 Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disordersNegri, Gloria; Magini, Pamela; Milani, Donatella; Crippa, Milena; Biamino, Elisa; Piccione, Maria; Sotgiu, Stefano; Perria, Chiara; Vitiello, Giuseppina; Frontali, Marina; Boni, Antonella; Di Fede, Elisabetta; Gandini, Maria Chiara; Colombo, Elisa Adele; Bamshad, Michael J.; Nickerson, Deborah A.; Smith, Joshua D.; Loddo, Italia; Finelli, Palma; Seri, Marco; Pippucci, Tommaso; Larizza, Lidia; Gervasini, Cristina 分享 收藏 Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic VariantsColombo, Elisa A.; Elcioglu, Nursel H.; Graziano, Claudio; Farinelli, Pamela; Di Fede, Elisabetta; Neri, Iria; Facchini, Elena; Greco, Mariangela; Gervasini, Cristina; Larizza, Lidia 分享 收藏 A balanced reciprocal translocation t(10;15)(q22.3;q26.1) interrupting ACAN gene in a family with proportionate short statureCrippa, M.; Giangiobbe, S.; Villa, R.; Bestetti, I.; De Filippis, T.; Fatti, L.; Taurino, J.; Larizza, L.; Persani, L.; Bellini, F.; Finelli, P.; Bonati, M. T. 分享 收藏 Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypesParenti, Ilaria; Teresa-Rodrigo, Maria E.; Pozojevic, Jelena; Gil, Sara Ruiz; Bader, Ingrid; Braunholz, Diana; Bramswig, Nuria C.; Gervasini, Cristina; Larizza, Lidia; Pfeiffer, Lutz; Ozkinay, Ferda; Ramos, Feliciano; Reiz, Benedikt; Rittinger, Olaf; Strom, Tim M.; Watrin, Erwan; Wendt, Kerstin; Wieczorek, Dagmar; Wollnik, Bernd; Baquero-Montoya, Carolina; Pie, Juan; Deardorff, Matthew A.; Gillessen-Kaesbach, Gabriele; Kaiser, Frank J. 分享 收藏 Familial gastrointestinal stromal tumors, lentigines, and cafe-au-lait macules associated with germline c-kit mutation treated with imatinibGupta, Divya; Chandrashekar, Laxmisha; Larizza, Lidia; Colombo, Elisa A.; Fontana, Laura; Gervasini, Cristina; Thappa, Devinder M.; Rajappa, Medha; Rajendiran, Kalai Selvi; Sreenath, Gubbi Shamanna; Kate, Vikram 分享 收藏 Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutationsColombo, Elisa Adele; Spaccini, Luigina; Volpi, Ludovica; Negri, Gloria; Cittaro, Davide; Lazarevic, Dejan; Zirpoli, Salvatore; Farolfi, Andrea; Gervasini, Cristina; Cubellis, Maria Vittoria; Larizza, Lidia 分享 收藏 分享 收藏 
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