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Pathogenic noncoding variants in the neurofibromatosis and schwannomatosis predisposition genes.
Hum Mutat. 2021 Oct;42(10):1187-1207. doi: 10.1002/humu.24261. Epub 2021 Jul 29.
Hum Mutat. 2021.
PMID: 34273915
Review.
Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannoma.
Evans DG, Messiaen LM, Foulkes WD, Irving REA, Murray AJ, Perez-Becerril C, Rivera B, McDonald-McGinn DM, Stevenson DA, Smith MJ.
Evans DG, et al. Among authors: perez becerril c.
Genet Med. 2021 Sep;23(9):1779-1782. doi: 10.1038/s41436-021-01175-0. Epub 2021 Apr 20.
Genet Med. 2021.
PMID: 33879870
Free PMC article.
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Screening of potential novel candidate genes in schwannomatosis patients.
Perez-Becerril C, Wallace AJ, Schlecht H, Bowers NL, Smith PT, Gokhale C, Eaton H, Charlton C, Robinson R, Charlton RS, Evans DG, Smith MJ.
Perez-Becerril C, et al.
Hum Mutat. 2022 Oct;43(10):1368-1376. doi: 10.1002/humu.24424. Epub 2022 Jun 27.
Hum Mutat. 2022.
PMID: 35723634
Free PMC article.
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Improved sensitivity for detection of pathogenic variants in familial NF2-related schwannomatosis.
Perez-Becerril C, Burghel GJ, Hartley C, Rowlands CF, Evans DG, Smith MJ.
Perez-Becerril C, et al.
J Med Genet. 2024 Apr 19;61(5):452-458. doi: 10.1136/jmg-2023-109586.
J Med Genet. 2024.
PMID: 38302265
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Genome-wide association analysis identifies a susceptibility locus for sporadic vestibular schwannoma at 9p21.
Sadler KV, Bowes J, Rowlands CF, Perez-Becerril C, van der Meer CM, King AT, Rutherford SA, Pathmanaban ON, Hammerbeck-Ward C, Lloyd SKW, Freeman SR, Williams R, Hannan CJ, Lewis D, Eyre S, Evans DG, Smith MJ.
Sadler KV, et al. Among authors: perez becerril c.
Brain. 2023 Jul 3;146(7):2861-2868. doi: 10.1093/brain/awac478.
Brain. 2023.
PMID: 36546557
Free PMC article.
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Common variants in the chromosome 2p23 region containing the SLC30A3 (ZnT3) gene are associated with schizophrenia in female but not male individuals in a large collection of European samples.
Perez-Becerril C, Morris AG, Mortimer A, McKenna PJ, de Belleroche J.
Perez-Becerril C, et al.
Psychiatry Res. 2016 Dec 30;246:335-340. doi: 10.1016/j.psychres.2016.09.052. Epub 2016 Sep 28.
Psychiatry Res. 2016.
PMID: 27750116
Free article.
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Allelic variants in the zinc transporter-3 gene, SLC30A3, a candidate gene identified from gene expression studies, show gender-specific association with schizophrenia.
Perez-Becerril C, Morris AG, Mortimer A, McKenna PJ, de Belleroche J.
Perez-Becerril C, et al.
Eur Psychiatry. 2014 Mar;29(3):172-8. doi: 10.1016/j.eurpsy.2013.05.007. Epub 2013 Jul 9.
Eur Psychiatry. 2014.
PMID: 23849395
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