Transcription factor pathways and congenital heart disease
DJ McCulley, BL Black - Current topics in developmental biology, 2012 - Elsevier
Congenital heart disease is a major cause of morbidity and mortality throughout life.
Mutations in numerous transcription factors have been identified in patients and families with …
Mutations in numerous transcription factors have been identified in patients and families with …
Intergenerational and intrafamilial phenotypic variability in 22q11. 2 deletion syndrome subjects
E Cirillo, G Giardino, V Gallo, P Puliafito, C Azzari… - BMC medical …, 2014 - Springer
Abstract Background 22q11. 2 deletion syndrome (22q11. 2DS) is a common microdeletion
syndrome, which occurs in approximately 1: 4000 births. Familial autosomal dominant …
syndrome, which occurs in approximately 1: 4000 births. Familial autosomal dominant …
Developmental perspectives on copy number abnormalities of the 22q11. 2 region
Tan TY, Gordon CT, Amor DJ, Farlie PG. Developmental perspectives on copy number
abnormalities of the 22q11. 2 region. The 22q11. 2 chromosomal landscape predisposes to …
abnormalities of the 22q11. 2 region. The 22q11. 2 chromosomal landscape predisposes to …
Genetic Polymorphisms of Vascular Endothelial Growth Factor in Neonatal Pathologies: A Systematic Search and Narrative Synthesis of the Literature
MG Hăşmăşanu, LM Procopciuc, M Matyas, GI Zonda… - Children, 2023 - mdpi.com
(1) Background: Vascular endothelial growth factor (VEGF) is essential in vasculo-and
angiogenesis due to its role in endothelial cell proliferation and migration. As a vascular …
angiogenesis due to its role in endothelial cell proliferation and migration. As a vascular …
血管内皮生长因子基因多态性与先天性心脏病相关性的Meta 分析
李一飞， 周开宇， 谢亮， 王川， 唐浩文， 方婕， 华益民 - 中国循证儿科杂志, 2012 - cjebp.net
目的评价血管内皮生长因子(VEGF) 等位基因, 基因型, 基因单倍型多态性与先天性心脏病(CHD)
的相关性. 方法检索Cochrane 图书馆, Medline, PubMed, EMBASE, 中国期刊全文数据库 …
的相关性. 方法检索Cochrane 图书馆, Medline, PubMed, EMBASE, 中国期刊全文数据库 …
[PDF][PDF] Low Copy Repeats Flanking Chromosome 22Q11. 2 Deletion Syndrome
L Vervoort, J Vermeesch, J Breckpot - 2022 - lirias.kuleuven.be
Pathological alterations in the composition or the structure of our DNA result in genetic
disorders. Different classes can be distinguished, ranging from aneuploidies, defined by a …
disorders. Different classes can be distinguished, ranging from aneuploidies, defined by a …
[HTML][HTML] Role of Vascular Endothelial Growth Factor as a Potential Biomarker in Congenital Heart Defects: A Systematic Review
Background: Several studies have investigated the role of vascular endothelial growth factor
(VEGF) variants, serum levels, and correlations with other extrinsic factors in congenital …
(VEGF) variants, serum levels, and correlations with other extrinsic factors in congenital …
Avaliação da influência dos polimorfismos no gene do fator decrescimento endotelial vascular e seu receptor na etiologia da endometriose
JV Cardoso - 2016 - arca.fiocruz.br
A endometriose é considerada uma doença complexa, influenciada tanto por fatores
genéticos como ambientais. A angiogênese via sinalização do fator de crescimento …
genéticos como ambientais. A angiogênese via sinalização do fator de crescimento …
[图书][B] Identifying genetic modifiers of congenital heart disease and mental illness in 22q11. 2 deletion syndrome
JH Chung - 2015 - search.proquest.com
Abstract The 22g11. 2 deletion syndrome (22q11DS) is the most common microdeletion
syndrome occurring in 1: 4000 live births. It is caused by a 3 Mb deletion on chromosome …
syndrome occurring in 1: 4000 live births. It is caused by a 3 Mb deletion on chromosome …
[引用][C] Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post‐array CGH era?
Microscopic chromosome analysis of cultured cells has been regarded as the standard
method for prenatal cytogenetic diagnosis since its first application to prenatal testing in …
method for prenatal cytogenetic diagnosis since its first application to prenatal testing in …