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Life-threating upper gastrointestinal bleeding due to a primary aorto-jejunal fistula.
Fernández de Sevilla E, Echeverri JA, Boqué M, Valverde S, Ortega N, Gené A, Rodríguez N, Balibrea JM, Armengol M. Fernández de Sevilla E, et al. Among authors: gene a. Int J Surg Case Rep. 2015;8C:25-8. doi: 10.1016/j.ijscr.2015.01.010. Epub 2015 Jan 9. Int J Surg Case Rep. 2015. PMID: 25616071 Free PMC article.
Impact of Diabetic Foot Multidisciplinary Unit on Incidence of Lower-Extremity Amputations by Diabetic Foot.
Ortiz-Zúñiga Á, Samaniego J, Biagetti B, Allegue N, Gené A, Sallent A, Crespo A, Serracanta J, Torrents C, Issa D, Rivas D, Veintemillas MT, Fernández-Hidalgo N, Busquets R, Royo J, Hernández C. Ortiz-Zúñiga Á, et al. Among authors: gene a. J Clin Med. 2023 Aug 28;12(17):5608. doi: 10.3390/jcm12175608. J Clin Med. 2023. PMID: 37685675 Free PMC article.
Impact of genome build on RNA-seq interpretation and diagnostics.
Ungar RA, Goddard PC, Jensen TD, Degalez F, Smith KS, Jin CA; Undiagnosed Diseases Network; Bonner DE, Bernstein JA, Wheeler MT, Montgomery SB. Ungar RA, et al. Am J Hum Genet. 2024 May 31:S0002-9297(24)00168-X. doi: 10.1016/j.ajhg.2024.05.005. Online ahead of print. Am J Hum Genet. 2024. PMID: 38834072
Across six routinely collected biospecimens, 61% of quantified genes were not influenced by genome build. However, we identified 1,492 genes with build-dependent quantification, 3,377 genes with build-exclusive expression, and 9,077 genes with annotati …
Across six routinely collected biospecimens, 61% of quantified genes were not influenced by genome build. However, we identified 1,49 …
Hyperornithinemia-hyperammonemia-homocitrullinuria: a rare neurometabolic disorder in two siblings.
Rizkallah D, Daher RT, Haddad L, Karam PE. Rizkallah D, et al. Metab Brain Dis. 2024 Jun 4. doi: 10.1007/s11011-024-01366-z. Online ahead of print. Metab Brain Dis. 2024. PMID: 38833093
Whole exome sequencing revealed a homozygous variant, p.Phe188del, in the SLC25A15 gene, a French- Canadian founder mutation previously unreported in Arab patients. ...
Whole exome sequencing revealed a homozygous variant, p.Phe188del, in the SLC25A15 gene, a French- Canadian founder mutation p …
Loss of a conserved C-terminal region of the Aspergillus fumigatus AtrR transcriptional regulator leads to a gene-specific defect in target gene expression.
Ror S, Stamnes MA, Moye-Rowley WS. Ror S, et al. bioRxiv [Preprint]. 2024 May 23:2024.05.22.595332. doi: 10.1101/2024.05.22.595332. bioRxiv. 2024. PMID: 38826412 Free PMC article. Preprint.
Azole compounds block the activity of the lanosterol alpha-14 demethylase, encoded by the cyp51A gene. A common route of azole resistance involves an increase in transcription of cyp51A. ...Using RNA-seq, we find that this gene-specific transcriptional defect extend …
Azole compounds block the activity of the lanosterol alpha-14 demethylase, encoded by the cyp51A gene. A common route of azole …
15,195 results
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