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

Year Number of Results
1975 1
1976 1
1978 1
1980 2
1981 1
1982 2
1983 1
1985 2
1987 3
1988 2
1989 2
1990 2
1992 1
1993 1
1997 1
2001 1
2003 3
2004 1
2005 2
2006 2
2007 4
2008 6
2009 6
2010 3
2011 6
2012 3
2013 6
2014 2
2015 1
2016 6
2017 7
2018 7
2019 2
2020 7
2021 5
2022 14
2023 9
2024 3
2025 1

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116 results

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Page 1
Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects.
Schwab C, Gabrysch A, Olbrich P, Patiño V, Warnatz K, Wolff D, Hoshino A, Kobayashi M, Imai K, Takagi M, Dybedal I, Haddock JA, Sansom DM, Lucena JM, Seidl M, Schmitt-Graeff A, Reiser V, Emmerich F, Frede N, Bulashevska A, Salzer U, Schubert D, Hayakawa S, Okada S, Kanariou M, Kucuk ZY, Chapdelaine H, Petruzelkova L, Sumnik Z, Sediva A, Slatter M, Arkwright PD, Cant A, Lorenz HM, Giese T, Lougaris V, Plebani A, Price C, Sullivan KE, Moutschen M, Litzman J, Freiberger T, van de Veerdonk FL, Recher M, Albert MH, Hauck F, Seneviratne S, Pachlopnik Schmid J, Kolios A, Unglik G, Klemann C, Speckmann C, Ehl S, Leichtner A, Blumberg R, Franke A, Snapper S, Zeissig S, Cunningham-Rundles C, Giulino-Roth L, Elemento O, Dückers G, Niehues T, Fronkova E, Kanderová V, Platt CD, Chou J, Chatila TA, Geha R, McDermott E, Bunn S, Kurzai M, Schulz A, Alsina L, Casals F, Deyà-Martinez A, Hambleton S, Kanegane H, Taskén K, Neth O, Grimbacher B. Schwab C, et al. Among authors: casals f. J Allergy Clin Immunol. 2018 Dec;142(6):1932-1946. doi: 10.1016/j.jaci.2018.02.055. Epub 2018 May 4. J Allergy Clin Immunol. 2018. PMID: 29729943 Free PMC article.
Spanish cohort of VEXAS syndrome: clinical manifestations, outcome of treatments and novel evidences about UBA1 mosaicism.
Mascaro JM, Rodriguez-Pinto I, Poza G, Mensa-Vilaro A, Fernandez-Martin J, Caminal-Montero L, Espinosa G, Hernández-Rodríguez J, Diaz M, Rita-Marques J, Sanmarti R, Castañeda S, Colunga D, Coto-Hernández R, Fanlo P, Elejalde JI, Bujan S, Figueras I, Marco FM, Andrés M, Suárez S, Gonzalez-Garcia A, Fustà-Novell X, Garcia-Belando C, Granados A, Fernandez-Figueras MT, Quilis N, Orriols-Caba M, Gómez de la Torre R, Cid MC, Espígol-Frigolé G, Alvarez-Abella A, Labrador E, Rozman M, Lopez-Guerra M, Castillo P, Alamo-Moreno JR, Gonzalez-Roca E, Plaza S, Fabregat V, Lara R, Vicente-Rabaneda EF, Tejedor-Vaquero S, Magri G, Bonet N, Solis-Moruno M, Cerutti A, Fornas O, Casals F, Yagüe J, Aróstegui JI. Mascaro JM, et al. Among authors: casals f. Ann Rheum Dis. 2023 Dec;82(12):1594-1605. doi: 10.1136/ard-2023-224460. Epub 2023 Sep 4. Ann Rheum Dis. 2023. PMID: 37666646 Free PMC article.
Description of a novel splice site variant in UBA1 gene causing VEXAS syndrome.
Ospina Cardona D, Rodriguez-Pinto I, Iosim S, Bonet N, Mensa-Vilaro A, Wong MK, Ho G, Tormo M, Yagüe J, Shon W, Wallace DJ, Casals F, Beck DB, Abuav R, Arostegui JI. Ospina Cardona D, et al. Among authors: casals f. Rheumatology (Oxford). 2024 Oct 1;63(10):2897-2902. doi: 10.1093/rheumatology/keae201. Rheumatology (Oxford). 2024. PMID: 38552317 Free PMC article.
Somatic genetic variation in healthy tissue and non-cancer diseases.
Solís-Moruno M, Batlle-Masó L, Bonet N, Aróstegui JI, Casals F. Solís-Moruno M, et al. Among authors: casals f. Eur J Hum Genet. 2023 Jan;31(1):48-54. doi: 10.1038/s41431-022-01213-8. Epub 2022 Oct 27. Eur J Hum Genet. 2023. PMID: 36289407 Free PMC article. Review.
Natural Selection in the Great Apes.
Cagan A, Theunert C, Laayouni H, Santpere G, Pybus M, Casals F, Prüfer K, Navarro A, Marques-Bonet T, Bertranpetit J, Andrés AM. Cagan A, et al. Among authors: casals f. Mol Biol Evol. 2016 Dec;33(12):3268-3283. doi: 10.1093/molbev/msw215. Epub 2016 Oct 30. Mol Biol Evol. 2016. PMID: 27795229 Free PMC article.
Case report: Novel compound heterozygous IL1RN mutations as the likely cause of a lethal form of deficiency of interleukin-1 receptor antagonist.
Urbaneja E, Bonet N, Solis-Moruno M, Mensa-Vilaro A, de Landazuri IO, Tormo M, Lara R, Plaza S, Fabregat V, Yagüe J, Casals F, Arostegui JI. Urbaneja E, et al. Among authors: casals f. Front Immunol. 2024 Apr 5;15:1381447. doi: 10.3389/fimmu.2024.1381447. eCollection 2024. Front Immunol. 2024. PMID: 38646532 Free PMC article.
Assessing the digenic model in rare disorders using population sequencing data.
Moreno-Ruiz N; Genomics England Research Consortium; Lao O, Aróstegui JI, Laayouni H, Casals F. Moreno-Ruiz N, et al. Among authors: casals f. Eur J Hum Genet. 2022 Dec;30(12):1439-1443. doi: 10.1038/s41431-022-01191-x. Epub 2022 Oct 3. Eur J Hum Genet. 2022. PMID: 36192439 Free PMC article.
A forensic population database in El Salvador: 58 STRs and 94 SNPs.
Casals F, Rasal R, Anglada R, Tormo M, Bonet N, Rivas N, Vásquez P, Calafell F. Casals F, et al. Forensic Sci Int Genet. 2022 Mar;57:102646. doi: 10.1016/j.fsigen.2021.102646. Epub 2021 Dec 1. Forensic Sci Int Genet. 2022. PMID: 34875492
116 results