Copy-number variation in congenital heart disease
L Ehrlich, SK Prakash - Current Opinion in Genetics & Development, 2022 - Elsevier
Genomic copy-number variants (CNVs) contribute to as many congenital heart disease
(CHD) cases (10–15%) as chromosomal aberrations or single-gene mutations and influence …
(CHD) cases (10–15%) as chromosomal aberrations or single-gene mutations and influence …
[HTML][HTML] Narrative review of single ventricle: where are we after 40 years?
AF Corno, TO Findley, JD Salazar - Translational Pediatrics, 2023 - ncbi.nlm.nih.gov
Methods Our literature review included all full articles published in English language on the
Cochrane, MedLine, and Embase with references to “single ventricle” and “univentricular …
Cochrane, MedLine, and Embase with references to “single ventricle” and “univentricular …
Genomic testing and molecular diagnosis among infants with congenital heart disease in the neonatal intensive care unit
EE D'Souza, TO Findley, R Hu, ZSH Khazal… - Journal of …, 2024 - nature.com
Objective To evaluate patterns of genetic testing among infants with CHD at a tertiary care
center. Study design We conducted a retrospective observational cohort study of infants in …
center. Study design We conducted a retrospective observational cohort study of infants in …
[HTML][HTML] DIO3 protects against thyrotoxicosis-derived cranio-encephalic and cardiac congenital abnormalities
ME Martinez, I Pinz, M Preda, CR Norton, T Gridley… - JCI insight, 2022 - ncbi.nlm.nih.gov
Maternal hyperthyroidism is associated with an increased incidence of congenital
abnormalities at birth, but it is not clear which of these defects arise from a transient …
abnormalities at birth, but it is not clear which of these defects arise from a transient …
Genetic counselling considerations with genetic/genomic testing in Neonatal and Pediatric Intensive Care Units: A scoping review
S Kim, C Pistawka, S Langlois, H Osiovich… - Clinical …, 2024 - Wiley Online Library
Genetic and genomic technologies can effectively diagnose numerous genetic disorders.
Patients benefit when genetic counselling accompanies genetic testing and international …
Patients benefit when genetic counselling accompanies genetic testing and international …
Conotruncal Heart Defects: A Narrative Review of Molecular Genetics, Genomics Research and Innovation
S Viswanathan, P Sandeep Oza, A Bellad… - OMICS: A Journal of …, 2024 - liebertpub.com
Congenital heart defects (CHDs) are most prevalent cardiac defects that occur at birth,
leading to significant neonatal mortality and morbidity, especially in the developing nations …
leading to significant neonatal mortality and morbidity, especially in the developing nations …
[HTML][HTML] Chromosomal microarray analysis in fetuses detected with isolated cardiovascular malformation: a multicenter study, systematic review of the literature and …
G Mastromoro, N Khaleghi Hashemian, D Guadagnolo… - Diagnostics, 2022 - mdpi.com
Cardiovascular malformations (CVM) represent the most common structural anomalies,
occurring in 0.7% of live births. The CVM prenatal suspicion should prompt an accurate …
occurring in 0.7% of live births. The CVM prenatal suspicion should prompt an accurate …
[HTML][HTML] Association between congenital heart disease and autism spectrum disorders: A protocol for a systematic review and meta-analysis
D Ma, JL Huang, T Xiong - Medicine, 2023 - journals.lww.com
Background: Congenital heart disease (CHD), the most common heart defect in children,
refers to congenital disease with abnormal development of the heart or large blood vessels …
refers to congenital disease with abnormal development of the heart or large blood vessels …
Comparison of four different detection techniques on copy number variations in preimplantation genetic testing: a retrospective study
W Luo, J Zou, YM Zheng, Y Hao, P Zhou, Z Wei, Y Cao… - 2024 - researchsquare.com
Background: We aimed to explore the distinctions among four different methods for copy
number variations (CNVs) detection, while also striving to identify the most optimal detection …
number variations (CNVs) detection, while also striving to identify the most optimal detection …
[PDF][PDF] Facultad de Ciencias Exactas y Naturales
M Delea - 2023 - bibliotecadigital.exactas.uba.ar
Es sabido que en la actualidad las enfermedades con base total o parcialmente genética
constituyen un problema para la salud pública y ocupan en nuestros días un lugar cada vez …
constituyen un problema para la salud pública y ocupan en nuestros días un lugar cada vez …