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The genetics and epigenetics of 22q11. 2 deletion syndrome
Q Du, MT de la Morena, NSC van Oers - Frontiers in Genetics, 2020 - frontiersin.org
Chromosome 22q11. 2 deletion syndrome (22q11. 2del) is a complex, multi-organ disorder
noted for its varying severity and penetrance among those affected. The clinical problems …
noted for its varying severity and penetrance among those affected. The clinical problems …
Advances in the understanding of the genetic determinants of congenital heart disease and their impact on clinical outcomes
MW Russell, WK Chung, JR Kaltman… - Journal of the American …, 2018 - ahajournals.org
Congenital heart defects (CHDs) are the most common type of birth defect occurring in% 1%
of live births1 and, if minor cardiac abnormalities such as bicuspid aortic valve are included …
of live births1 and, if minor cardiac abnormalities such as bicuspid aortic valve are included …
[HTML][HTML] Chromosome 22q11. 2 deletion syndrome: A comprehensive review of molecular genetics in the context of multidisciplinary clinical approach
A Szczawińska-Popłonyk, E Schwartzmann… - International journal of …, 2023 - mdpi.com
The 22q11. 2 deletion syndrome is a multisystemic disorder characterized by a marked
variability of phenotypic features, making the diagnosis challenging for clinicians. The wide …
variability of phenotypic features, making the diagnosis challenging for clinicians. The wide …
The non‐specific lethal (NSL) complex at the crossroads of transcriptional control and cellular homeostasis
The functionality of chromatin is tightly regulated by post‐translational modifications that
modulate transcriptional output from target loci. Among the post‐translational modifications …
modulate transcriptional output from target loci. Among the post‐translational modifications …
The role of epigenetics in congenital heart disease
Congenital heart disease (CHD) is the most common birth defect among newborns
worldwide and contributes to significant infant morbidity and mortality. Owing to major …
worldwide and contributes to significant infant morbidity and mortality. Owing to major …
Understanding the variability of 22q11. 2 deletion syndrome: The role of epigenetic factors
Initially described as a triad of immunodeficiency, congenital heart defects and
hypoparathyroidism, 22q11. 2 deletion syndrome (22q11. 2DS) now encompasses a great …
hypoparathyroidism, 22q11. 2 deletion syndrome (22q11. 2DS) now encompasses a great …
[HTML][HTML] Craniofacial phenotypes and genetics of DiGeorge syndrome
N Funato - Journal of Developmental Biology, 2022 - mdpi.com
The 22q11. 2 deletion is one of the most common genetic microdeletions, affecting
approximately 1 in 4000 live births in humans. A 1.5 to 2.5 Mb hemizygous deletion of …
approximately 1 in 4000 live births in humans. A 1.5 to 2.5 Mb hemizygous deletion of …
[HTML][HTML] Genetic and genomics in congenital heart disease: a clinical review
Objective: Discuss evidence referring to the genetic role in congenital heart diseases,
whether chromosomic alterations or monogenic diseases. Data source: LILACS, PubMed …
whether chromosomic alterations or monogenic diseases. Data source: LILACS, PubMed …
Cardiogenesis impairment promoted by bisphenol A exposure is successfully counteracted by epigallocatechin gallate
Exposure to the emerging contaminant bisphenol A (BPA) is ubiquitous and associated with
cardiovascular disorders. BPA effect as endocrine disruptor is widely known but other …
cardiovascular disorders. BPA effect as endocrine disruptor is widely known but other …
Mending a broken heart: In vitro, in vivo and in silico models of congenital heart disease
Birth defects contribute to∼ 0.3% of global infant mortality in the first month of life, and
congenital heart disease (CHD) is the most common birth defect among newborns …
congenital heart disease (CHD) is the most common birth defect among newborns …