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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1986 1
1990 4
1992 4
1993 3
1994 2
1995 2
1996 8
1997 7
1998 8
1999 10
2000 12
2001 20
2002 19
2003 18
2004 23
2005 29
2006 39
2007 23
2008 36
2009 40
2010 52
2011 51
2012 56
2013 51
2014 47
2015 49
2016 35
2017 34
2018 25
2019 32
2020 40
2021 43
2022 31
2023 38
2024 10

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796 results

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Page 1
CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants.
Simonetti L, Bruque CD, Fernández CS, Benavides-Mori B, Delea M, Kolomenski JE, Espeche LD, Buzzalino ND, Nadra AD, Dain L. Simonetti L, et al. Hum Mutat. 2018 Jan;39(1):5-22. doi: 10.1002/humu.23351. Epub 2017 Nov 6. Hum Mutat. 2018. PMID: 29035424 Review.
Clinically, the 21-hydroxylase deficiency has been classified in a broad spectrum of clinical forms, ranging from severe or classical, to mild late onset or non-classical. Known allelic variants in the disease causing CYP21A2 gene are spread among different sources. ...
Clinically, the 21-hydroxylase deficiency has been classified in a broad spectrum of clinical forms, ranging from severe or classical, to mi …
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
Astle WJ, Elding H, Jiang T, Allen D, Ruklisa D, Mann AL, Mead D, Bouman H, Riveros-Mckay F, Kostadima MA, Lambourne JJ, Sivapalaratnam S, Downes K, Kundu K, Bomba L, Berentsen K, Bradley JR, Daugherty LC, Delaneau O, Freson K, Garner SF, Grassi L, Guerrero J, Haimel M, Janssen-Megens EM, Kaan A, Kamat M, Kim B, Mandoli A, Marchini J, Martens JHA, Meacham S, Megy K, O'Connell J, Petersen R, Sharifi N, Sheard SM, Staley JR, Tuna S, van der Ent M, Walter K, Wang SY, Wheeler E, Wilder SP, Iotchkova V, Moore C, Sambrook J, Stunnenberg HG, Di Angelantonio E, Kaptoge S, Kuijpers TW, Carrillo-de-Santa-Pau E, Juan D, Rico D, Valencia A, Chen L, Ge B, Vasquez L, Kwan T, Garrido-Martín D, Watt S, Yang Y, Guigo R, Beck S, Paul DS, Pastinen T, Bujold D, Bourque G, Frontini M, Danesh J, Roberts DJ, Ouwehand WH, Butterworth AS, Soranzo N. Astle WJ, et al. Cell. 2016 Nov 17;167(5):1415-1429.e19. doi: 10.1016/j.cell.2016.10.042. Cell. 2016. PMID: 27863252 Free PMC article.
This effort yielded hundreds of low frequency (<5%) and rare (<1%) variants with a strong impact on blood cell phenotypes. Our data highlight general properties of the allelic architecture of complex traits, including the proportion of the heritable component of each …
This effort yielded hundreds of low frequency (<5%) and rare (<1%) variants with a strong impact on blood cell phenotypes. Our data hi …
Adeno-associated virus 2 infection in children with non-A-E hepatitis.
Ho A, Orton R, Tayler R, Asamaphan P, Herder V, Davis C, Tong L, Smollett K, Manali M, Allan J, Rawlik K, McDonald SE, Vink E, Pollock L, Gannon L, Evans C, McMenamin J, Roy K, Marsh K, Divala T, Holden MTG, Lockhart M, Yirrell D, Currie S, O'Leary M, Henderson D, Shepherd SJ, Jackson C, Gunson R, MacLean A, McInnes N, Bradley-Stewart A, Battle R, Hollenbach JA, Henderson P, Odam M, Chikowore P, Oosthuyzen W, Chand M, Hamilton MS, Estrada-Rivadeneyra D, Levin M, Avramidis N, Pairo-Castineira E, Vitart V, Wilkie C; DIAMONDS Consortium; ISARIC4C Investigators; Palmarini M, Ray S, Robertson DL, da Silva Filipe A, Willett BJ, Breuer J, Semple MG, Turner D, Baillie JK, Thomson EC. Ho A, et al. Nature. 2023 May;617(7961):555-563. doi: 10.1038/s41586-023-05948-2. Epub 2023 Mar 30. Nature. 2023. PMID: 36996873
In keeping with a CD4(+) T-cell-mediated immune pathology, the human leukocyte antigen (HLA) class II HLA-DRB1*04:01 allele was identified in 25 out of 27 cases (93%) compared with a background frequency of 10 out of 64 (16%; P = 5.49 10(-12)). ...
In keeping with a CD4(+) T-cell-mediated immune pathology, the human leukocyte antigen (HLA) class II HLA-DRB1*04:01 allele was ident …
An In Vivo Kras Allelic Series Reveals Distinct Phenotypes of Common Oncogenic Variants.
Zafra MP, Parsons MJ, Kim J, Alonso-Curbelo D, Goswami S, Schatoff EM, Han T, Katti A, Fernandez MTC, Wilkinson JE, Piskounova E, Dow LE. Zafra MP, et al. Cancer Discov. 2020 Nov;10(11):1654-1671. doi: 10.1158/2159-8290.CD-20-0442. Epub 2020 Aug 12. Cancer Discov. 2020. PMID: 32792368 Free PMC article.
Using high-fidelity CRISPR-based engineering, we created an allelic series of new LSL-Kras mutant mice, reflecting codon 12 and 13 mutations that are highly prevalent in lung (KRAS(G12C)), pancreas (KRAS(G12R)), and colon (KRAS(G13D)) cancers. Induction of each allele …
Using high-fidelity CRISPR-based engineering, we created an allelic series of new LSL-Kras mutant mice, reflecting codon 12 and 13 mu …
HLA-A*11:01 and HLA-C*04:01 are associated with severe COVID-19.
Castro-Santos P, Rojas-Martinez A, Riancho JA, Lapunzina P, Flores C, Carracedo Á, Díaz-Peña R; Scourge Cohort Group. Castro-Santos P, et al. HLA. 2023 Dec;102(6):731-739. doi: 10.1111/tan.15160. Epub 2023 Aug 1. HLA. 2023. PMID: 37528566
We also found the alleles HLA-A*11:01 and HLA-C*04:01 associated with disease severity (p = 0.033, OR = 1.16, 95% CI = [1.04-1.31], p = 0.045, OR = 1.14, 95% CI = [1.05-1.25], respectively). These results suggest that an effective presentation of viral peptides by HLA clas …
We also found the alleles HLA-A*11:01 and HLA-C*04:01 associated with disease severity (p = 0.033, OR = 1.16, 95% CI = [1.04-1.31], p …
Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.
Del Pozo-Valero M, Riveiro-Alvarez R, Martin-Merida I, Blanco-Kelly F, Swafiri S, Lorda-Sanchez I, Trujillo-Tiebas MJ, Carreño E, Jimenez-Rolando B, Garcia-Sandoval B, Corton M, Avila-Fernandez A, Ayuso C. Del Pozo-Valero M, et al. Invest Ophthalmol Vis Sci. 2022 Feb 1;63(2):11. doi: 10.1167/iovs.63.2.11. Invest Ophthalmol Vis Sci. 2022. PMID: 35119454 Free PMC article.
ABCA4 is the most mutated gene in all groups, and a second pathogenic variant was found in 76% of STGD patients with one previously identified mutated ABCA4 allele. Autosomal dominant or X-linked mutations were found in 5% of cases together with not-MD genes (CHM, EYS, RHO …
ABCA4 is the most mutated gene in all groups, and a second pathogenic variant was found in 76% of STGD patients with one previously identifi …
Genetic susceptibility in obsessive-compulsive disorder.
Fernandez TV, Leckman JF, Pittenger C. Fernandez TV, et al. Handb Clin Neurol. 2018;148:767-781. doi: 10.1016/B978-0-444-64076-5.00049-1. Handb Clin Neurol. 2018. PMID: 29478613 Review.
Mouse knockout models have already made notable inroads into our understanding of OCD pathology; their utility will only increase as specific risk alleles are identified....
Mouse knockout models have already made notable inroads into our understanding of OCD pathology; their utility will only increase as specifi …
Significance of HLA-B[*]51 allele expression in Crohn's disease: a case-control study.
Kostianovsky A, Llanquimán PE, Olivera PA, Muñoz SA, Gandino I, Orden AO, Dal Pra F, Teper S, Khoury MC, Sambuelli AM, Allievi A. Kostianovsky A, et al. Clin Exp Rheumatol. 2023 Oct;41(10):2044-2047. doi: 10.55563/clinexprheumatol/yr9c5h. Epub 2023 Apr 28. Clin Exp Rheumatol. 2023. PMID: 37140714 Free article.
RESULTS: Among patients with CD, 12.85% were positive for the HLA-B*51 allele, compared with 38.24% patients with BD (OR=0.238; 95% CI=0.089-0.637; p=0.004). CONCLUSIONS: Our finding suggests that determination of HLA-B*51 allele status may contribute to the differe …
RESULTS: Among patients with CD, 12.85% were positive for the HLA-B*51 allele, compared with 38.24% patients with BD (OR=0.238; 95% C …
The HLA-B*51 Allele is strongly associated with Behcet Disease in an Argentinean population.
Muñoz SA, Orden AO, Kostianovsky A, Pisoni CN, Scolnik M, Luissi A, Bottinelli Y, Vijoditz G, Garcia M, Pena C, Pera M, Rillo O, Alvarellos T, Más LM, Trunzo AL, Allievi A. Muñoz SA, et al. Reumatol Clin (Engl Ed). 2020 Jul-Aug;16(4):282-285. doi: 10.1016/j.reuma.2018.07.002. Epub 2018 Aug 6. Reumatol Clin (Engl Ed). 2020. PMID: 30093366 Free article. English, Spanish.
Thirty-four (14.2%) of 240 controls were positive for the HLA-B*51 allele. The association between BD and HLA-B*51 allele was greater than that of control group (OR=3.75; p=0.0012). CONCLUSIONS: The HLA-B*51 allele is strongly associated with BD in Argentinea …
Thirty-four (14.2%) of 240 controls were positive for the HLA-B*51 allele. The association between BD and HLA-B*51 allele was …
Changes in Allele Frequencies When Different Genomic Coancestry Matrices Are Used for Maintaining Genetic Diversity.
Morales-González E, Fernández J, Pong-Wong R, Toro MÁ, Villanueva B. Morales-González E, et al. Genes (Basel). 2021 Apr 29;12(5):673. doi: 10.3390/genes12050673. Genes (Basel). 2021. PMID: 33947136 Free PMC article.
This can be achieved using the Optimal Contributions (OC) method that optimizes the contributions of candidates to the next generation by minimizing the global coancestry. However, it has been argued that maintaining allele frequencies is also important. Different genomic …
This can be achieved using the Optimal Contributions (OC) method that optimizes the contributions of candidates to the next generation by mi …
796 results