De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

Autor: Homsy, Jason, Zaidi, Samir, Shen, Yufeng, Ware, James S., Samocha, Kaitlin E., Karczewski, Konrad J., DePalma, Steven R., McKean, David, Wakimoto, Hiroko, Gorham, Josh, Jin, Sheng Chih, Deanfield, John, Giardini, Alessandro, Porter, George A., Kim, Richard, Bilguvar, Kaya, López-Giráldez, Francesc, Tikhonova, Irina, Mane, Shrikant, Romano-Adesman, Angela, Qi, Hongjian, Vardarajan, Badri, Ma, Lijiang, Daly, Mark, Roberts, Amy E., Russell, Mark W., Mital, Seema, Newburger, Jane W., Gaynor, J. William, Breitbart, Roger E., Iossifov, Ivan, Ronemus, Michael, Sanders, Stephan J., Kaltman, Jonathan R., Seidman, Jonathan G., Brueckner, Martina, Gelb, Bruce D., Goldmuntz, Elizabeth, Lifton, Richard P., Seidman, Christine E., Chung, Wendy K.

Publikováno v: Science, 2015 Dec 01. 350(6265), 1262-1266.

Externí odkaz: http://www.jstor.org/stable/24741038

The incidence of Marfan syndrome and cardiac anomalies in patients presenting with pectus deformities

Autor: Angela Romano-Adesman, Christopher A. Behr, Naomi-Liza Denning, Caroline Maloney, Andrew R. Hong, Michelle P. Kallis, Samuel Z. Soffer

Publikováno v: Journal of Pediatric Surgery. 54:1926-1928

Purpose The incidence of Marfan syndrome in the general population is 0.3%. Two-thirds of patients with Marfan syndrome have concurrent pectus deformity. However, incidence of Marfan syndrome and cardiac abnormalities in patients presenting with an i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbc6af2662e3f4a556e3a684d55ce89a
https://doi.org/10.1016/j.jpedsurg.2018.11.017

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De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

Autor: Josh Gorham, David M. McKean, Stephen Sanders, Elizabeth Goldmuntz, Francesc López-Giráldez, Angela Romano-Adesman, Kaya Bilguvar, James S. Ware, Jonathan G. Seidman, Mark J. Daly, Amy E. Roberts, Konrad J. Karczewski, J. William Gaynor, Richard P. Lifton, Christine E. Seidman, Mark W. Russell, Hongjian Qi, Steven R. DePalma, Jonathan R. Kaltman, Michael Ronemus, Badri N. Vardarajan, Alessandro Giardini, Ivan Iossifov, Roger E. Breitbart, Jason Homsy, Shrikant Mane, Richard B. Kim, Wendy K. Chung, George A. Porter, Samir Zaidi, Hiroko Wakimoto, Jane W. Newburger, Bruce D. Gelb, Kaitlin E. Samocha, Lijiang Ma, Martina Brueckner, Yufeng Shen, Seema Mital, John E. Deanfield, Sheng Chih Jin, Irina Tikhonova

Publikováno v: Science. 350:1262-1266

Congenital heart disease (CHD) patients have an increased prevalence of extracardiac congenital anomalies (CAs) and risk of neurodevelopmental disabilities (NDDs). Exome sequencing of 1213 CHD parent-offspring trios identified an excess of protein-da

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4e461e6bf887216791adccac7e7818af
https://doi.org/10.1126/science.aac9396

De novo mutations in histone-modifying genes in congenital heart disease

Autor: State, Matthew, Sanders, Stephan, Zaidi, S, Choi, M, Wakimoto, H, Ma, L, Jiang, J, Overton, JD, Romano-Adesman, A, Bjornson, RD, Breitbart, RE, Brown, KK

Publikováno v: State, Matthew; Sanders, Stephan; Zaidi, S; Choi, M; Wakimoto, H; Ma, L; et al.(2013). De novo mutations in histone-modifying genes in congenital heart disease. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/0jp7w96g

Congenital heart disease (CHD) is the most frequent birth defect, affecting 0.8% of live births. Many cases occur sporadically and impair reproductive fitness, suggesting a role for de novo mutations. Here we compare the incidence of de novo mutation

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::9ab5e205680f0533d854f207f93f99d6
http://www.escholarship.org/uc/item/0jp7w96g