日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22-23 Deletions

远端22q11.22-23染色体缺失个体先天性心脏病的患病率和谱系

Nelson, Tanner J; McGinn, Daniel E; Crowley, T Blaine; Rockart, Lydia; Green, Audrey; Giunta, Victoria; Tran, Oanh; Miller, Daniella; Breckpot, Jeroen; Swillen, Ann; Digilio, M Cristina; Unolt, Marta; Putotto, Carolina; Pulvirenti, Federica; Marino, Bruno; Emanuel, Beverly S; Zackai, Elaine H; Zhang, Zhengdong D; Goldmuntz, Elizabeth; Boot, Erik; Bassett, Anne S; Morrow, Bernice E; McDonald-McGinn, Donna M

Deletion size and background genetic variation shape congenital heart disease phenotypes in 3,016 individuals with 22q11.2 deletion syndrome

22q11.2缺失综合征患者的缺失大小和背景遗传变异影响先天性心脏病表型,共纳入3016例患者。

Lin, Jhih-Rong; Miller, Daniella; Luong, Dana; Nelson, Tanner; Crowley, T Blaine; Tran, Oanh T; Thiruvahindrapuram, Bhooma; Hajianpour, Amirhossein; Campbell, Linda; Busa, Tiffany; Heine-Suñer, Damian; García-Miñaúr, Sixto; Fernández, Luis; Murphy, Kieran C; Murphy, Declan; Hawula, Wanda; Angkustsiri, Kathleen; Shashi, Vandana; Schoch, Kelly; Bearden, Carrie E; Tomita Mitchell, Aoy; Mitchell, Michael E; Carmel, Miri; Weizman, Abraham; Michaelovsky, Elena; Gothelf, Doron; van den Bree, Marianne B M; Owen, Michael J; Vorstman, Jacob A S; Boot, Erik; Vingerhoets, Claudia; van Amelsvoort, Therese; Swillen, Ann; Breckpot, Jeroen; Vermeesch, Joris R; Devriendt, Koen; Schneider, Maude; Eliez, Stephan; Digilio, M Cristina; Unolt, Marta; Putotto, Carolina; Marino, Bruno; Pontillo, Maria; Armando, Marco; Vicari, Stefano; Repetto, Gabriela M; Kates, Wendy R; Shprintzen, Robert J; Gur, Raquel E; Zackai, Elaine H; Goldmuntz, Elizabeth; Wang, Tao; Raj, Srilakshmi; Emanuel, Beverly S; McDonald-McGinn, Donna M; Scherer, Stephen C; Bassett, Anne S; Zhang, Zhengdong D; Morrow, Bernice E

Prenatal Alcohol Exposure and Congenital Heart Defects: Retinoic Acid Deficiency as a Potential Mechanism in Dextro-Type Transposition of the Great Arteries

产前酒精暴露与先天性心脏缺陷:视黄酸缺乏可能是右位大动脉转位的潜在机制

Paparella, Roberto; Putotto, Carolina; Fiore, Marco; Colloridi, Fiorenza; Versacci, Paolo; Ceccanti, Mauro; Marino, Bruno; Tarani, Luigi

Real-Life Functioning in 22q11.2 Deletion Syndrome in Relation to Neurocognitive Abilities and Psychotic Symptoms: A Comparison With Idiopathic Schizophrenia

22q11.2缺失综合征患者的现实生活功能与神经认知能力和精神病症状的关系:与特发性精神分裂症的比较

Accinni, Tommaso; Frascarelli, Marianna; Cordellieri, Pierluigi; Kotzalidis, Georgios D; Fanella, Martina; Di Bonaventura, Carlo; Putotto, Carolina; Marino, Bruno; Bucci, Paola; Giuliani, Luigi; Maraone, Annalisa; Pasquini, Massimo; Di Fabio, Fabio; Buzzanca, Antonino

Laterality, heterotaxy, and isolated congenital heart defects : The genetic basis of the segmental nature of the heart

侧向性、异位症和孤立性先天性心脏缺陷:心脏节段性的遗传基础

Putotto, Carolina; Pugnaloni, Flaminia; Unolt, Marta; Calcagni, Giulio; Versacci, Paolo; Marino, Bruno

Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age

22q11.2缺失综合征的产前诊断与产后诊断:1岁前的心脏和非心脏结局

Freud, Lindsay R; Galloway, Stephanie; Crowley, T Blaine; Moldenhauer, Julie; Swillen, Ann; Breckpot, Jeroen; Borrell, Antoni; Vora, Neeta L; Cuneo, Bettina; Hoffman, Hilary; Gilbert, Lisa; Nowakowska, Beata; Geremek, Maciej; Kutkowska-Kaźmierczak, Anna; Vermeesch, Joris R; Devriendt, Koen; Busa, Tiffany; Sigaudy, Sabine; Vigneswaran, Trisha; Simpson, John M; Dungan, Jeffrey; Gotteiner, Nina; Gloning, Karl-Philipp; Digilio, Maria Cristina; Unolt, Marta; Putotto, Carolina; Marino, Bruno; Repetto, Gabriela; Fadic, Magdalena; Garcia-Minaur, Sixto; Achón Buil, Ana; Thomas, Mary Ann; Fruitman, Deborah; Beecroft, Taylor; Hui, Pui Wah; Oskarsdottir, Solveig; Bradshaw, Rachael; Criebaum, Amanda; Norton, Mary E; Lee, Tiffany; Geiger, Miwa; Dunnington, Leslie; Isaac, Jacqueline; Wilkins-Haug, Louise; Hunter, Lindsey; Izzi, Claudia; Toscano, Marika; Ghi, Tullio; McGlynn, Julie; Romana Grati, Francesca; Emanuel, Beverly S; Gaiser, Kimberly; Gaynor, J William; Goldmuntz, Elizabeth; McGinn, Daniel E; Schindewolf, Erica; Tran, Oanh; Zackai, Elaine H; Yan, Qi; Bassett, Anne S; Wapner, Ronald; McDonald-McGinn, Donna M

From Klinefelter Syndrome to High Grade Aneuploidies: Expanding the Gene-dosage Effect of Supernumerary X Chromosomes

从克氏综合征到高度非整倍体:扩展超数X染色体的基因剂量效应

Spaziani, Matteo; Carlomagno, Francesco; Tarantino, Chiara; Angelini, Francesco; Paparella, Roberto; Tarani, Luigi; Putotto, Carolina; Badagliacca, Roberto; Pozza, Carlotta; Isidori, Andrea M; Gianfrilli, Daniele

Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome

分子确诊的索托斯综合征患者的先天性心脏缺陷

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

Prenatal cardiac findings and 22q11.2 deletion syndrome: Fetal detection and evaluation

产前心脏检查结果与22q11.2缺失综合征:胎儿检测与评估

Goldmuntz, Elizabeth; Bassett, Anne S; Boot, Erik; Marino, Bruno; Moldenhauer, Julie S; Óskarsdóttir, Sólveig; Putotto, Carolina; Rychik, Jack; Schindewolf, Erica; McDonald-McGinn, Donna M; Blagowidow, Natalie

Salivary α-Synuclein as a Candidate Biomarker of Parkinsonism in 22q11.2 Deletion Syndrome.

唾液α-突触核蛋白作为22q11.2缺失综合征帕金森症的候选生物标志物

Fanella Martina, Cerulli Irelli Emanuele, Accinni Tommaso, Di Fabio Fabio, Putotto Carolina, Pulvirenti Federica, Bellomi Francesco E, Di Bonaventura Carlo, Vivacqua Giorgio