FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2129336069> ?p ?o ?g. }

• W2129336069 endingPage "208" @default.
• W2129336069 startingPage "193" @default.
• W2129336069 abstract "Congenital cardiac defects represent the most common group of birth defects, affecting an estimated six per 1000 births. Genetic characterization of patients and families with cardiac defects has identified a number of genes required for heart development. Yet, despite the rapid pace of these advances, mutations affecting known genes still account for only a small fraction of congenital heart defects suggesting that many more genes and developmental mechanisms remain to be identified.In this study, we reviewed 1694 described cases of patients with cardiac defects who were determined to have a significant chromosomal imbalance (a deletion or duplication). The cases were collected from publicly available databases (DECIPHER, ISCA, and CHDWiki) and from recent publications. An additional 68 nonredundant cases were included from the University of Michigan. Cases with multiple chromosomal or whole chromosome defects (trisomy 13, 18, 21) were excluded, and cases with overlapping deletions and/or insertions were grouped to identify regions potentially involved in heart development.Seventy-nine chromosomal regions were identified in which 5 or more patients had overlapping imbalances. Regions of overlap were used to determine minimal critical domains most likely to contain genes or regulatory elements involved in heart development. This approach was used to refine the critical regions responsible for cardiac defects associated with chromosomal imbalances involving 1q24.2, 2q31.1, 15q26.3, and 22q11.2.The pattern of chromosomal imbalances in patients with congenital cardiac defects suggests that many loci may be involved in normal heart development, some with very strong and direct effects and others with less direct effects. Chromosomal duplication/deletion mapping will provide an important roadmap for genome-wide sequencing and genetic mapping strategies to identify novel genes critical for heart development." @default.
• W2129336069 created "2016-06-24" @default.
• W2129336069 creator A5012804315 @default.
• W2129336069 creator A5017732426 @default.
• W2129336069 creator A5026755867 @default.
• W2129336069 creator A5035095307 @default.
• W2129336069 creator A5038312637 @default.
• W2129336069 creator A5043630297 @default.
• W2129336069 creator A5048681280 @default.
• W2129336069 creator A5051066678 @default.
• W2129336069 creator A5055841506 @default.
• W2129336069 creator A5057606288 @default.
• W2129336069 creator A5067660983 @default.
• W2129336069 creator A5071166764 @default.
• W2129336069 creator A5078260116 @default.
• W2129336069 creator A5086539519 @default.
• W2129336069 creator A5086968344 @default.
• W2129336069 date "2014-04-11" @default.
• W2129336069 modified "2023-10-14" @default.
• W2129336069 title "Chromosomal Imbalances in Patients with Congenital Cardiac Defects: A Meta-analysis Reveals Novel Potential Critical Regions Involved in Heart Development" @default.
• W2129336069 cites W1501608538 @default.
• W2129336069 cites W1506409704 @default.
• W2129336069 cites W1796424763 @default.
• W2129336069 cites W1878240916 @default.
• W2129336069 cites W1963885049 @default.
• W2129336069 cites W1969100695 @default.
• W2129336069 cites W1977976517 @default.
• W2129336069 cites W1984677256 @default.
• W2129336069 cites W1988162020 @default.
• W2129336069 cites W1992914659 @default.
• W2129336069 cites W1994540457 @default.
• W2129336069 cites W1995806196 @default.
• W2129336069 cites W2003111893 @default.
• W2129336069 cites W2007502006 @default.
• W2129336069 cites W2011884985 @default.
• W2129336069 cites W2016465218 @default.
• W2129336069 cites W2017565802 @default.
• W2129336069 cites W2020117837 @default.
• W2129336069 cites W2026101083 @default.
• W2129336069 cites W2028188824 @default.
• W2129336069 cites W2036841261 @default.
• W2129336069 cites W2040341487 @default.
• W2129336069 cites W2044137549 @default.
• W2129336069 cites W2050203819 @default.
• W2129336069 cites W2064419816 @default.
• W2129336069 cites W2068784971 @default.
• W2129336069 cites W2071501859 @default.
• W2129336069 cites W2075318595 @default.
• W2129336069 cites W2076479322 @default.
• W2129336069 cites W2076890216 @default.
• W2129336069 cites W2081372952 @default.
• W2129336069 cites W2082533656 @default.
• W2129336069 cites W2097000949 @default.
• W2129336069 cites W2104276565 @default.
• W2129336069 cites W2104589149 @default.
• W2129336069 cites W2104746754 @default.
• W2129336069 cites W2106650442 @default.
• W2129336069 cites W2110169150 @default.
• W2129336069 cites W2113820455 @default.
• W2129336069 cites W2117577488 @default.
• W2129336069 cites W2128031979 @default.
• W2129336069 cites W2132189464 @default.
• W2129336069 cites W2133773722 @default.
• W2129336069 cites W2137512368 @default.
• W2129336069 cites W2140279570 @default.
• W2129336069 cites W2142613777 @default.
• W2129336069 cites W2144460548 @default.
• W2129336069 cites W2157304951 @default.
• W2129336069 doi "https://doi.org/10.1111/chd.12179" @default.
• W2129336069 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/24720490" @default.
• W2129336069 hasPublicationYear "2014" @default.
• W2129336069 type Work @default.
• W2129336069 sameAs 2129336069 @default.
• W2129336069 citedByCount "24" @default.
• W2129336069 countsByYear W21293360692014 @default.
• W2129336069 countsByYear W21293360692015 @default.
• W2129336069 countsByYear W21293360692016 @default.
• W2129336069 countsByYear W21293360692017 @default.
• W2129336069 countsByYear W21293360692018 @default.
• W2129336069 countsByYear W21293360692019 @default.
• W2129336069 countsByYear W21293360692021 @default.
• W2129336069 countsByYear W21293360692022 @default.
• W2129336069 countsByYear W21293360692023 @default.
• W2129336069 crossrefType "journal-article" @default.
• W2129336069 hasAuthorship W2129336069A5012804315 @default.
• W2129336069 hasAuthorship W2129336069A5017732426 @default.
• W2129336069 hasAuthorship W2129336069A5026755867 @default.
• W2129336069 hasAuthorship W2129336069A5035095307 @default.
• W2129336069 hasAuthorship W2129336069A5038312637 @default.
• W2129336069 hasAuthorship W2129336069A5043630297 @default.
• W2129336069 hasAuthorship W2129336069A5048681280 @default.
• W2129336069 hasAuthorship W2129336069A5051066678 @default.
• W2129336069 hasAuthorship W2129336069A5055841506 @default.
• W2129336069 hasAuthorship W2129336069A5057606288 @default.
• W2129336069 hasAuthorship W2129336069A5067660983 @default.
• W2129336069 hasAuthorship W2129336069A5071166764 @default.
• W2129336069 hasAuthorship W2129336069A5078260116 @default.
• W2129336069 hasAuthorship W2129336069A5086539519 @default.

• next