Results 21 to 30 of about 1,780,601 (391)

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

Nature Genetics, 2017
Congenital heart disease (CHD) is the leading cause of mortality from birth defects. Here, exome sequencing of a single cohort of 2,871 CHD probands, including 2,645 parent–offspring trios, implicated rare inherited mutations in 1.8%, including a ...
S. Jin, Jason Homsy, Samir Zaidi, Q. Lu, S. Morton, S. DePalma, Xue Zeng, Hongjian Qi, Weni Chang, M. Sierant, Wei-chien Hung, S. Haider, Junhui Zhang, James R. Knight, R. Bjornson, C. Castaldi, Irina R. Tikhonoa, K. Bilguvar, S. Mane, Stephan J Sanders, S. Mital, M. Russell, J. Gaynor, J. Deanfield, A. Giardini, G. Porter, D. Srivastava, C. W. Lo, Yufeng Shen, W. Watkins, M. Yandell, H. Yost, M. Tristani-Firouzi, J. Newburger, A. Roberts, R. Kim, Hongyu Zhao, J. Kaltman, E. Goldmuntz, W. Chung, J. Seidman, B. Gelb, C. Seidman, R. Lifton, M. Brueckner   +44 more
semanticscholar   +1 more source

Association of Maternal Prepregnancy Diabetes and Gestational Diabetes Mellitus With Congenital Anomalies of the Newborn

Diabetes Care, 2020
OBJECTIVE To examine the association of maternal prepregnancy diabetes, gestational diabetes mellitus (GDM), and 12 subtypes of congenital anomalies of the newborn.
Yuxiao Wu, Buyun Liu, Yangbo Sun, Yang Du, M. Santillan, D. Santillan, L. Snetselaar, W. Bao   +7 more
semanticscholar   +1 more source

Congenital Candidiasis

Pediatrics & Neonatology, 2008
Congenital candidiasis presents with a variety of clinical features. We report two neonates with congenital candidiasis characterized by diffuse erythematous papules associated with pneumonia and respiratory distress. Candida pseudohyphae were identifiable in skin scrapings.
Shwu-Meei Wang, Chyong-Hsin Hsu, Jui-Hsing Chang   +2 more
openaire   +3 more sources

Lactococcus lactis provides an efficient platform for production of disulfide-rich recombinant proteins from Plasmodium falciparum

Microbial Cell Factories, 2018
Background The production of recombinant proteins with proper conformation, appropriate post-translational modifications in an easily scalable and cost-effective system is challenging.
Susheel K. Singh, Régis Wendpayangde Tiendrebeogo, Bishwanath Kumar Chourasia, Ikhlaq Hussain Kana, Subhash Singh, Michael Theisen   +5 more
doaj   +1 more source

Extracorporeal membrane oxygenation in paediatric cardiac surgery: 5-year single centre experience

Journal of Cardiothoracic Surgery, 2023
Background Extracorporeal membrane oxygenation (ECMO) has become an integral part of paediatric cardiac surgery. We report the experience of a well-established ECMO service over 5 years.
Laurynas Bezuska, Jonathan P. O’Doherty, Bilal Ali, Chris Harvey, Ikenna Omeje, Branko Mimic   +5 more
doaj   +1 more source

Isolated major aortopulmonary collateral as the sole pulmonary blood supply to an entire lung segment [PDF]

, 2017
Congenital systemic-to-pulmonary collateral arteries or major aortopulmonary collaterals are associated with cyanotic congenital heart disease with decreased pulmonary blood flow.
Grady, R. Mark, Kim, Hannah S, Shahanavaz, Shabana   +2 more
core   +3 more sources

Missed Opportunities for Prevention of Congenital Syphilis — United States, 2018

MMWR. Morbidity and mortality weekly report, 2020
Congenital syphilis is an infection with Treponema pallidum in an infant or fetus, acquired during pregnancy from a mother with untreated or inadequately treated syphilis.
Anne A. Kimball, Elizabeth A Torrone, K. Miele, L. Bachmann, Phoebe G. Thorpe, H. Weinstock, V. Bowen   +6 more
semanticscholar   +1 more source

Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.

Circulation, 2018
This review provides an updated summary of the state of our knowledge of the genetic contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial American Heart Association scientific statement on the genetic basis of ...
M. Pierpont, M. Brueckner, W. Chung, V. Garg, R. Lacro, A. McGuire, S. Mital, J. Priest, W. Pu, A. Roberts, S. Ware, B. Gelb, M. Russell   +12 more
semanticscholar   +1 more source

Congenital hypothyroidism

Orphanet Journal of Rare Diseases, 2010
Congenital hypothyroidism (CH) occurs in approximately 1:2,000 to 1:4,000 newborns. The clinical manifestations are often subtle or not present at birth. This likely is due to trans-placental passage of some maternal thyroid hormone, while many infants have some thyroid production of their own.
LaFranchi Stephen H, Rastogi Maynika V
openaire   +3 more sources

Prenatal Exposure to Tetrachloroethylene-Contaminated Drinking Water and the Risk of Congenital Anomalies: A Retrospective Cohort Study [PDF]

, 2009
BACKGROUND: Prior animal and human studies of prenatal exposure to solvents including tetrachloroethylene (PCE) have shown increases in the risk of certain congenital anomalies among exposed offspring. OBJECTIVES: This retrospective cohort study examined
Aschengrau, Ann, Gallagher, Lisa G., Janulewicz, Patricia A., Ozonoff, David M., Vieira, Veronica M., Webster, Thomas F., Weinberg, Janice M., Winter, Michael R.   +7 more
core   +7 more sources