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2002
2025

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2002 1
2007 1
2024 1
2025 0

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The incremental yield of prenatal exome sequencing over chromosome microarray for congenital heart abnormalities: A systematic review and meta-analysis.
Reilly K, Sonner S, McCay N, Rolnik DL, Casey F, Seale AN, Watson CJ, Kan A, Lai THT, Chung BHY, Diderich KEM, Srebniak MI, Dempsey E, Drury S, Giordano J, Wapner R, Kilby MD, Chitty LS, Mone F. Reilly K, et al. Prenat Diagn. 2024 Jun;44(6-7):821-831. doi: 10.1002/pd.6581. Epub 2024 May 6. Prenat Diagn. 2024. PMID: 38708840
The subgroup with the greatest yield was complex lesions/heterotaxy; 35.2% (95% CI 9.7%-65.3%). The most common syndrome was Kabuki syndrome (31/256, 12.1%) and most pathogenic variants occurred de novo and in autosomal dominant (monoallelic) di …
The subgroup with the greatest yield was complex lesions/heterotaxy; 35.2% (95% CI 9.7%-65.3%). The most common syndrome
Genetic causes of bronchiectasis: primary ciliary dyskinesia.
Morillas HN, Zariwala M, Knowles MR. Morillas HN, et al. Respiration. 2007;74(3):252-63. doi: 10.1159/000101783. Respiration. 2007. PMID: 17534128 Review.
Mutations in 2 genes, DNAI1 and DNAH5, frequently cause PCD as an autosomal recessive disorder. A clinical genetic test has been recently established for DNAI1 and DNAH5, which involves sequencing 9 exons that harbor the most common mutations. This approach will ide …
Mutations in 2 genes, DNAI1 and DNAH5, frequently cause PCD as an autosomal recessive disorder. A clinical genetic test has be …
[Transposition of great arteries. Understanding its pathogenesis].
Marino B, Digilio MC, Versacci P, Anaclerio S, Dallapiccola B. Marino B, et al. Ital Heart J Suppl. 2002 Feb;3(2):154-60. Ital Heart J Suppl. 2002. PMID: 11926021 Review. Italian.
A few cases are in relation with DiGeorge syndrome with deletion of chromosome 22q11. On the contrary TGA is significantly prevalent, in association with other cardiac and extracardiac anomalies, in children with lateralization defects, heterotaxy and asplenia sy
A few cases are in relation with DiGeorge syndrome with deletion of chromosome 22q11. On the contrary TGA is significantly prevalent, …