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

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

Long-term incidence of arrhythmias in extracardiac conduit Fontan and comparison between systemic left and right ventricle

体外管道Fontan术后长期心律失常发生率及体循环左心室与右心室的比较

Di Mambro, Corrado; Yammine, Marie Laure; Tamborrino, Pietro Paolo; Giordano, Ugo; Righi, Daniela; Unolt, Marta; Cantarutti, Nicoletta; Maiolo, Stella; Albanese, Sonia; Carotti, Adriano; Amodeo, Antonio; Galletti, Lorenzo; Drago, Fabrizio

Improved Outcomes in Patients with 22q11.2 Deletion Syndrome and Diagnosis of Interrupted Aortic Arch Prior to Birth Hospital Discharge, a Retrospective Study

一项回顾性研究:22q11.2缺失综合征合并出生前诊断为主动脉弓中断患者的预后改善

Ron, Hayley A; Crowley, Terrence Blaine; Liu, Yichuan; Unolt, Marta; Schindewolf, Erica; Moldenhauer, Julie; Rychik, Jack; Goldmuntz, Elizabeth; Emanuel, Beverly S; Ryba, Douglas; Gaynor, James William; Zackai, Elaine H; Hakonarson, Hakon; McDonald-McGinn, Donna M

Clinical Risk Factors for Aortic Root Dilation in Patients with 22q11.2 Deletion Syndrome: A Longitudinal Single-Center Study

22q11.2缺失综合征患者主动脉根部扩张的临床危险因素:一项纵向单中心研究

Putotto, Carolina; Pulvirenti, Federica; Pugnaloni, Flaminia; Isufi, Ina; Unolt, Marta; Anaclerio, Silvia; Caputo, Viviana; Bernardini, Laura; Messina, Elisa; Moretti, Corrado; Tarani, Luigi; Marino, Bruno; Versacci, Paolo

22q11.2 Deletion Syndrome: Impact of Genetics in the Treatment of Conotruncal Heart Defects

22q11.2缺失综合征:遗传学在圆锥动脉干心脏缺陷治疗中的作用

Putotto, Carolina; Pugnaloni, Flaminia; Unolt, Marta; Maiolo, Stella; Trezzi, Matteo; Digilio, Maria Cristina; Cirillo, Annapaola; Limongelli, Giuseppe; Marino, Bruno; Calcagni, Giulio; Versacci, Paolo

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

22q11.2缺失存在时,精神分裂症风险的遗传因素

Cleynen, Isabelle; Engchuan, Worrawat; Hestand, Matthew S; Heung, Tracy; Holleman, Aaron M; Johnston, H Richard; Monfeuga, Thomas; McDonald-McGinn, Donna M; Gur, Raquel E; Morrow, Bernice E; Swillen, Ann; Vorstman, Jacob A S; Bearden, Carrie E; Chow, Eva W C; van den Bree, Marianne; Emanuel, Beverly S; Vermeesch, Joris R; Warren, Stephen T; Owen, Michael J; Chopra, Pankaj; Cutler, David J; Duncan, Richard; Kotlar, Alex V; Mulle, Jennifer G; Voss, Anna J; Zwick, Michael E; Diacou, Alexander; Golden, Aaron; Guo, Tingwei; Lin, Jhih-Rong; Wang, Tao; Zhang, Zhengdong; Zhao, Yingjie; Marshall, Christian; Merico, Daniele; Jin, Andrea; Lilley, Brenna; Salmons, Harold I; Tran, Oanh; Holmans, Peter; Pardinas, Antonio; Walters, James T R; Demaerel, Wolfram; Boot, Erik; Butcher, Nancy J; Costain, Gregory A; Lowther, Chelsea; Evers, Rens; van Amelsvoort, Therese A M J; van Duin, Esther; Vingerhoets, Claudia; Breckpot, Jeroen; Devriendt, Koen; Vergaelen, Elfi; Vogels, Annick; Crowley, T Blaine; McGinn, Daniel E; Moss, Edward M; Sharkus, Robert J; Unolt, Marta; Zackai, Elaine H; Calkins, Monica E; Gallagher, Robert S; Gur, Ruben C; Tang, Sunny X; Fritsch, Rosemarie; Ornstein, Claudia; Repetto, Gabriela M; Breetvelt, Elemi; Duijff, Sasja N; Fiksinski, Ania; Moss, Hayley; Niarchou, Maria; Murphy, Kieran C; Prasad, Sarah E; Daly, Eileen M; Gudbrandsen, Maria; Murphy, Clodagh M; Murphy, Declan G; Buzzanca, Antonio; Fabio, Fabio Di; Digilio, Maria C; Pontillo, Maria; Marino, Bruno; Vicari, Stefano; Coleman, Karlene; Cubells, Joseph F; Ousley, Opal Y; Carmel, Miri; Gothelf, Doron; Mekori-Domachevsky, Ehud; Michaelovsky, Elena; Weinberger, Ronnie; Weizman, Abraham; Kushan, Leila; Jalbrzikowski, Maria; Armando, Marco; Eliez, Stéphan; Sandini, Corrado; Schneider, Maude; Béna, Frédérique Sloan; Antshel, Kevin M; Fremont, Wanda; Kates, Wendy R; Belzeaux, Raoul; Busa, Tiffany; Philip, Nicole; Campbell, Linda E; McCabe, Kathryn L; Hooper, Stephen R; Schoch, Kelly; Shashi, Vandana; Simon, Tony J; Tassone, Flora; Arango, Celso; Fraguas, David; García-Miñaúr, Sixto; Morey-Canyelles, Jaume; Rosell, Jordi; Suñer, Damià H; Raventos-Simic, Jasna; Epstein, Michael P; Williams, Nigel M; Bassett, Anne S

Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects

对 1053 名 22q11.2 缺失综合征患者的 22q11.2 等位基因进行完整测序,揭示了圆锥动脉干心脏缺陷的修饰因子

Zhao, Yingjie; Diacou, Alexander; Johnston, H Richard; Musfee, Fadi I; McDonald-McGinn, Donna M; McGinn, Daniel; Crowley, T Blaine; Repetto, Gabriela M; Swillen, Ann; Breckpot, Jeroen; Vermeesch, Joris R; Kates, Wendy R; Digilio, M Cristina; Unolt, Marta; Marino, Bruno; Pontillo, Maria; Armando, Marco; Di Fabio, Fabio; Vicari, Stefano; van den Bree, Marianne; Moss, Hayley; Owen, Michael J; Murphy, Kieran C; Murphy, Clodagh M; Murphy, Declan; Schoch, Kelly; Shashi, Vandana; Tassone, Flora; Simon, Tony J; Shprintzen, Robert J; Campbell, Linda; Philip, Nicole; Heine-Suñer, Damian; García-Miñaúr, Sixto; Fernández, Luis; Bearden, Carrie E; Vingerhoets, Claudia; van Amelsvoort, Therese; Eliez, Stephan; Schneider, Maude; Vorstman, Jacob A S; Gothelf, Doron; Zackai, Elaine; Agopian, A J; Gur, Raquel E; Bassett, Anne S; Emanuel, Beverly S; Goldmuntz, Elizabeth; Mitchell, Laura E; Wang, Tao; Morrow, Bernice E