Results 111 to 120 of about 330,544 (344)

DOUBLE ANEUPLOIDY 48,XXY,+21 ASSOCIATED WITH A CONGENITAL HEART DEFECT IN A NEONATE

Balkan Journal of Medical Genetics, 2013
A neonate with a double aneuploidy associated with congenital heart defect (CHD) suffered from cyanosis after birth. He had typical features of Down syndrome (DS) including hypertelorism, slightly lowset ears with protruding pinna.
Shu X., Zou C., Shen Z.
doaj   +1 more source

Comprehensive evaluation of genetic variants using chromosomal microarray analysis and exome sequencing in fetuses with congenital heart defect

Ultrasound in Obstetrics and Gynecology, 2020
Fengchang Qiao, Yuguo Wang, C. Zhang, Ran Zhou, Yun Wu, Chen Wang, Lu-lu Meng, P. Mao, Qing Cheng, C. Luo, Ping Hu, Zhengfeng Xu   +11 more
semanticscholar   +1 more source

Two‐Dimensional Piezoelectric Nanomaterials for Nanoelectronics and Energy Harvesting

ENERGY &ENVIRONMENTAL MATERIALS, EarlyView.
Two‐Dimensional Piezoelectric Nanomaterials from properties to applications. Smart materials, especially piezoelectric materials, have gained popularity over the last two decades. Two‐dimensional (2D) piezoelectric materials exhibit attributes including great flexibility, ease of workability, extensive surface area, and many active sites, indicating ...
Yujun Cao, Sikandar Aftab, Zeeshan Ali, Muhammad Farooq Khan, Ghazanfar Nazir, Awais Khalid, Hosameldin Helmy Hegazy, Ibrahim S. Yahia, Altaf Hussain Rajpar, Burragoni Sravanthi Goud, Jae Hong Kim, Erdi Akman, Xin Li   +12 more
wiley   +1 more source

Study of prevalence of underlying congenital heart disease in children with recurrent respiratory tract infections [PDF]

Perspectives In Medical Research, 2017
Background: Recurrent respiratory tract infections are common cause of morbidity globally.Some congenital heart diseases that cause increased pulmonary blood flow is a common predisposing factor for a recurrent Respiratory tract infection (RTI) ,the ...
Harish G V1 , Priyanka Kalyani2
doaj  

Frequency and pattern of Congenital Heart Defects in children with Down’s Syndrome

Gomal Journal of Medical Sciences, 2012
Background: Patients with Down’s syndrome are prone to have congenital heart defects. This study was conducted to evaluate the frequency of various congenital heart defects in children with Down’s syndrome in Khyber Pukhtunkhwa province.
Inayatullah Khan, Taj Muhammad
doaj  

Molecular phenotype of right ventricular hypertrophy in human tetralogy of Fallot [PDF]

, 2003
In 1888 the French physician Etienne-Louis Arthur Fallot described a “tetrad” of congenital anatomical defects in a heart, which are now collectively referred to as tetralogy of Fallot (TF).
Peters, T.H.F. (Erik)
core  

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons, Marc A. Beal, Kerry L. Dearfield, George R. Douglas, Min Gi, B. Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Michelle Kenyon, Alexandra S. Long, David P. Lovell, Anthony M. Lynch, Meagan B. Myers, Stefan Pfuhler, Alisa Vespa, Andreas Zeller, George E. Johnson, Paul A. White   +17 more
wiley   +1 more source

Transcatheter closure of Ventricular Septal defects in Malta : initial experience [PDF]

, 2005
Ventricular septal defects (VSD) consist of deficiencies of the wall separating the two ventricles. VSDs are the commonest congenital cardiac defects. Small VSDs rarely require intervention, however, larger defects cause ventricular volume overload with ...
Aquilina, Oscar, DeGiovanni, Joseph V., Fenech, Albert, Formosa Gouder, Mireille, Grech, Victor E., Magic, Jadran, Manche, Alexander   +6 more
core  

Folate supplementation for prevention of congenital heart defects and low birth weight: an update.

Cardiovascular Diagnosis and Therapy, 2019
Women planning a pregnancy and pregnant women in the first trimester are recommended to use folate-containing supplements in order to prevent neural tube defects.
R. Obeid, W. Holzgreve, K. Pietrzik
semanticscholar   +1 more source

Electro‐clinical features of Mowat–Wilson syndrome: A retrospective study of 31 children in mainland China

Epileptic Disorders, EarlyView.
Abstract Objective To summarize the electro‐clinical and genetic characteristics of children with Mowat–Wilson syndrome (MWS). Methods This study is a hospital‐based case series analyzing clinical data from 31 pediatric patients with MWS and epilepsy treated at Peking University First Hospital between June 2020 and December 2024.
Yi Ju, Tao‐yun Ji
wiley   +1 more source