المؤلفون: Boleti, Olga, Norrish, Gabrielle, Field, Ella, Dady, Kathleen, Summers, Kim, Nepali, Gauri, Bhole, Vinay, Uzun, Orhan, Wong, Amos, Daubeney, Piers EF, Stuart, Graham, Fernandes, Precylia, Mcleod, Karen, Ilina, Maria, Ali, Muhammad Najih Liaqath, Bharucha, Tara, Donne, Grazia Delle, Brown, Elspeth, Linter, Katie, Jones, Caroline B, Searle, Jonathan, Regan, William, Mathur, Sujeev, Boyd, Nicola, Reinhardt, Zdenka, Duignan, Sophie, Prendiville, Terence, Adwani, Satish, Kaski, Juan Pablo

المصدر: ESC Heart Failure (2024) (In press).

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Cardiac & Cardiovascular Systems, Cardiovascular System & Cardiology, Hypertrophic cardiomyopathy, Paediatric cardiology, Inherited cardiac conditions, Genetics, RASopathy, Noonan, Predictors, Arrhythmia, Sudden cardiac death, Mortality, LONG-TERM OUTCOMES, NOONAN SYNDROME, CLINICAL PRESENTATION, CHILDREN, CHILDHOOD, MANAGEMENT, DIAGNOSIS, SOCIETY, DEATH, RISK

وصف الملف: application/pdf

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10187113/1/ESC%20Heart%20Failure%20-%202024%20-%20Boleti%20-%20Natural%20history%20and%20outcomes%20in%20paediatric%20RASopathy%25E2%2580%2590associated%20hypertrophic.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10187113Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10187113/1/ESC%20Heart%20Failure%20-%202024%20-%20Boleti%20-%20Natural%20history%20and%20outcomes%20in%20paediatric%20RASopathy%25E2%2580%2590associated%20hypertrophic.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10187113Test/

المؤلفون: Kelleher, Sean T, Prendiville, Terence, Carroll, Aoife

مصطلحات موضوعية: Images in neonatal medicine

وصف الملف: text/html

العلاقة: http://fn.bmj.com/cgi/content/short/108/5/545Test; http://dx.doi.org/10.1136/archdischild-2021-323281Test

الإتاحة: https://doi.org/10.1136/archdischild-2021-323281Test
http://fn.bmj.com/cgi/content/short/108/5/545Test

المؤلفون: Ge, Ning, Liu, Min, Li, Rui, Allen, Nicholas M., Galvin, Joseph, Shen, Sanbing, O’Brien, Timothy, Prendiville, Terence W.

المساهمون: National Children's Research Centre, Galway University Foundation, College of Medicine, Nursing and Health Sciences, National University of Ireland, Galway, China Sponsorship Council, National University Ireland, Galway

المصدر: Stem Cell Reviews and Reports ; volume 19, issue 8, page 2774-2789 ; ISSN 2629-3269 2629-3277

مصطلحات موضوعية: General Medicine

الإتاحة: https://doi.org/10.1007/s12015-023-10602-5Test

المؤلفون: Boleti, Olga D., Roussos, Sotirios, Norrish, Gabrielle, Field, Ella, Oates, Stephanie, Tollit, Jennifer, Nepali, Gauri, Bhole, Vinay, Uzun, Orhan, Daubeney, Piers E.F., Stuart, Graham A., Fernandes, Precylia, McLeod, Karen, Ilina, Maria, Liaqath, Muhammad Najih Ali, Bharucha, Tara, Delle Donne, Grazia, Brown, Elspeth, Linter, Katie, Khodaghalian, Bernadette, Jones, Caroline, Searle, Jonathan, Mathur, Sujeev, Boyd, Nicola, Reindhardt, Zdenka, Duignan, Sophie, Prendiville, Terence, Adwani, Satish, Zenker, Martin, Wolf, Cordula Maria, Kaski, Juan Pablo

المصدر: International Journal of Cardiology ; volume 393, page 131405 ; ISSN 0167-5273

مصطلحات موضوعية: Cardiology and Cardiovascular Medicine

الإتاحة: https://doi.org/10.1016/j.ijcard.2023.131405Test
https://api.elsevier.com/content/article/PII:S0167527323013980?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0167527323013980?httpAccept=text/plainTest

المؤلفون: Ng, Li Yen, McGuinness, Jonathan, Prendiville, Terence, Franklin, Orla, Walsh, Mark, Kenny, Damien, Nolke, Lars, McMahon, Colin J.

المصدر: Pediatric Cardiology; Jun2024, Vol. 45 Issue 5, p1132-1141, 10p

مصطلحات موضوعية: NEWBORN infants, HEART tumors, TUBEROUS sclerosis, INFANTS, TUMOR surgery, SURGICAL excision

المؤلفون: Prendiville, Terence W., Guo, Haidong, Lin, Zhiqiang, Zhou, Pingzhu, Stevens, Sean M., He, Aibin, VanDusen, Nathan, Chen, Jinghai, Zhong, Li, Wang, Da-Zhi, Gao, Guangping, Pu, William T.

المساهمون: Gene Therapy Center

المصدر: PloS one ; 10 ; 5 ; e0128105

مصطلحات موضوعية: Cardiology, Cardiovascular Diseases, Genetics, Therapeutics

العلاقة: Link to Article in PubMed; PLoS One. 2015 May 29;10(5):e0128105. doi:10.1371/journal.pone.0128105. eCollection 2015. Link to article on publisher's site .; 1932-6203 (Linking); http://hdl.handle.net/20.500.14038/39740Test; https://escholarship.umassmed.edu/cgi/viewcontent.cgi?article=3541&context=oapubs&unstamped=1Test; https://escholarship.umassmed.edu/oapubs/2538Test; 7357736; oapubs/2538

الإتاحة: https://doi.org/10.1371/journal.pone.0128105Test
https://doi.org/20.500.14038/39740Test
https://hdl.handle.net/20.500.14038/39740Test
https://escholarship.umassmed.edu/cgi/viewcontent.cgi?article=3541&context=oapubs&unstamped=1Test
https://escholarship.umassmed.edu/oapubs/2538Test

المؤلفون: Norrish, Gabrielle, Cleary, Aoife, Field, Ella, Cervi, Elena, Boleti, Olga, Ziolkowska, Lidia, Olivotto, Iacopo, Khraiche, Diala, Limongelli, Giuseppe, Anastasakis, Aris, Weintraub, Robert, Biagini, Elena, Ragni, Luca, Prendiville, Terence, Duignan, Sophie, McLeod, Karen, Ilina, Maria, Fernandez, Adrian, Marrone, Chiara, Bokenkamp, Regina, Baban, Anwar, Kubus, Peter, Daubeney, Piers E. F., Sarquella-Brugada, Georgia, Cesar, Sergi, Klaassen, Sabine, Ojala, Tiina H., Bhole, Vinay, Medrano, Constancio, Uzun, Orhan, Brown, Elspeth, Gran, Ferran, Sinagra, Gianfranco, Castro, Francisco J., Stuart, Graham, Yamazawa, Hirokuni, Barriales-Villa, Roberto, Garcia-Guereta, Luis, Adwani, Satish, Linter, Katie, Bharucha, Tara, Gonzales-Lopez, Esther, Siles, Ana, Rasmussen, Torsten B., Calcagnino, Margherita, Jones, Caroline B., De Wilde, Hans, Kubo, Toru, Felice, Tiziana, Popoiu, Anca, Mogensen, Jens, Mathur, Sujeev, Centeno, Fernando, Reinhardt, Zdenka, Schouvey, Sylvie, Elliott, Perry M., Kaski, Juan Pablo

المساهمون: University of Helsinki, Clinicum, Children's Hospital, HUS Children and Adolescents

مصطلحات موضوعية: 3121 General medicine, internal medicine and other clinical medicine, Age, Childhood hypertrophic cardiomyopathy, Outcomes, Phenotype

وصف الملف: application/pdf

العلاقة: This work was supported by the British Heart Foundation (grant FS/16/72/32270) to Drs Norrish and Kaski. This work is (partly) funded by the National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre. Dr Norrish is supported by Great Ormond Street Hospital Children's Charity. Drs Field and Kaski are supported by Max's Foundation and Great Ormond Street Hospital Children's Charity. Dr Kaski is supported by a Medical Research Council-National Institute for Health Research Clinical Academic Research Partnership award. This work was financially supported by the Foundation for Paediatric Research of Finland (Dr Ojala). Dr Fernandez has received speaker fees from Sanofi-Genzyme. Dr Kubus is supported by MH CZ -DRO, Motol University Hospital (00064203). All other authors have reported that they have no relationships relevant to the contents of this paper to disclose.; Norrish , G , Cleary , A , Field , E , Cervi , E , Boleti , O , Ziolkowska , L , Olivotto , I , Khraiche , D , Limongelli , G , Anastasakis , A , Weintraub , R , Biagini , E , Ragni , L , Prendiville , T , Duignan , S , McLeod , K , Ilina , M , Fernandez , A , Marrone , C , Bokenkamp , R , Baban , A , Kubus , P , Daubeney , P E F , Sarquella-Brugada , G , Cesar , S , Klaassen , S , Ojala , T H , Bhole , V , Medrano , C , Uzun , O , Brown , E , Gran , F , Sinagra , G , Castro , F J , Stuart , G , Yamazawa , H , Barriales-Villa , R , Garcia-Guereta , L , Adwani , S , Linter , K , Bharucha , T , Gonzales-Lopez , E , Siles , A , Rasmussen , T B , Calcagnino , M , Jones , C B , De Wilde , H , Kubo , T , Felice , T , Popoiu , A , Mogensen , J , Mathur , S , Centeno , F , Reinhardt , Z , Schouvey , S , Elliott , P M & Kaski , J P 2022 , ' Clinical Features and Natural History of Preadolescent Nonsyndromic Hypertrophic Cardiomyopathy ' , Journal of the American College of Cardiology , vol. 79 , no. 20 , pp. 1986-1997 . https://doi.org/10.1016/j.jacc.2022.03.347Test; ORCID: /0000-0001-9092-7763/work/119581500; 3db71c75-4672-46c4-a91b-bfddfb885894; http://hdl.handle.net/10138/348174Test; 000844180900003

الإتاحة: http://hdl.handle.net/10138/348174Test

المؤلفون: Topriceanu, Constantin-Cristian, Norrish, Gabrielle, Qu, Chen, Fiend, Ella, Walsh, Helen, Ziółkowska, Lidia, Olivotto, Iacopo, Passantino, Silvia, Favilli, Silvia, Anastasakis, Aris, Vlagkouli, Vasiliki, Weintraub, Robert, King, Ingrid, Biagini, Elena, Ragni, Lucaa, Prendiville, Terence, Duignan, Sophie, McLeod, Karen, Ilina, Maria, Fernández, Adrian, Bökenkamp, Regina, Baban, Anwar, Drago, Drago, Kubuš, Peter, Daubeney, Piers, Chivers, Sian, Sarquella-Brugada, Georgia, Cesar, Sergi, Marrone, Chiara, Medrano, Constancio, Garcia-Roves Reyes, Alvarez, Uzun, Orhan, Gran Ipina, Ferran, Castro Garcia, FJ, Gimeno, Juan Ramón, Barriales-Villa, Roberto, Rueda, Fernando, Adwani, Satish, Searle, Jonathan, Bharucha, Tara, Siles, Ana, Usano, Ana, Rasmussen, Torsten Bloch, Jones, Caroline, Kubo, T, Mogensen, Jens, Reinhardt, Zdenka, Cervi, Elena, Elliott, Perry, Omar, Rumana

المصدر: ACHD/Valve disease/Pericardial disease/Cardiomyopathy

الإتاحة: https://doi.org/10.1136/heartjnl-2021-bcs.1Test

المؤلفون: Ge, Ning, Liu, Min, Li, Rui, Allen, Nicholas M., Galvin, Joseph, Shen, Sanbing, O'Brien, Timothy, Prendiville, Terence W.

المصدر: Stem Cell Reviews & Reports; Nov2023, Vol. 19 Issue 8, p2774-2789, 16p

مصطلحات موضوعية: INDUCED pluripotent stem cells, LONG QT syndrome, CRISPRS, GENETIC variation, DRUG discovery, SODIUM channels

المؤلفون: Ge, Ning, Liu, Min, Zhu, Xiaoran, Krawczyk, Janusz, McInerney, Veronica, Shen, Sanbing, O'Brien, Timothy, Prendiville, Terence

المساهمون: National Children's Research Centre, Central People's Government of the People's Republic of China Scholarship Programme, National University of Ireland Galway, Irish Research Council, Science Foundation Ireland

المصدر: Stem Cell Research ; volume 53, page 102389 ; ISSN 1873-5061

مصطلحات موضوعية: Cell Biology, Developmental Biology, General Medicine

الإتاحة: https://doi.org/10.1016/j.scr.2021.102389Test
https://api.elsevier.com/content/article/PII:S187350612100235X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S187350612100235X?httpAccept=text/plainTest