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Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome.
Óskarsdóttir S, Boot E, Crowley TB, Loo JCY, Arganbright JM, Armando M, Baylis AL, Breetvelt EJ, Castelein RM, Chadehumbe M, Cielo CM, de Reuver S, Eliez S, Fiksinski AM, Forbes BJ, Gallagher E, Hopkins SE, Jackson OA, Levitz-Katz L, Klingberg G, Lambert MP, Marino B, Mascarenhas MR, Moldenhauer J, Moss EM, Nowakowska BA, Orchanian-Cheff A, Putotto C, Repetto GM, Schindewolf E, Schneider M, Solot CB, Sullivan KE, Swillen A, Unolt M, Van Batavia JP, Vingerhoets C, Vorstman J, Bassett AS, McDonald-McGinn DM. Óskarsdóttir S, et al. Among authors: loo jcy. Genet Med. 2023 Mar;25(3):100338. doi: 10.1016/j.gim.2022.11.006. Epub 2023 Feb 2. Genet Med. 2023. PMID: 36729053 Free article. Review.
Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome.
Boot E, Óskarsdóttir S, Loo JCY, Crowley TB, Orchanian-Cheff A, Andrade DM, Arganbright JM, Castelein RM, Cserti-Gazdewich C, de Reuver S, Fiksinski AM, Klingberg G, Lang AE, Mascarenhas MR, Moss EM, Nowakowska BA, Oechslin E, Palmer L, Repetto GM, Reyes NGD, Schneider M, Silversides C, Sullivan KE, Swillen A, van Amelsvoort TAMJ, Van Batavia JP, Vingerhoets C, McDonald-McGinn DM, Bassett AS. Boot E, et al. Among authors: loo jcy. Genet Med. 2023 Mar;25(3):100344. doi: 10.1016/j.gim.2022.11.012. Epub 2023 Feb 2. Genet Med. 2023. PMID: 36729052 Free article.
Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions.
Blagowidow N, Nowakowska B, Schindewolf E, Grati FR, Putotto C, Breckpot J, Swillen A, Crowley TB, Loo JCY, Lairson LA, Óskarsdóttir S, Boot E, Garcia-Minaur S, Cristina Digilio M, Marino B, Coleman B, Moldenhauer JS, Bassett AS, McDonald-McGinn DM. Blagowidow N, et al. Among authors: loo jcy. Genes (Basel). 2023 Jan 6;14(1):160. doi: 10.3390/genes14010160. Genes (Basel). 2023. PMID: 36672900 Free PMC article. Review.
Germline splicing mutations of CDKN2A predispose to melanoma.
Loo JC, Liu L, Hao A, Gao L, Agatep R, Shennan M, Summers A, Goldstein AM, Tucker MA, Deters C, Fusaro R, Blazer K, Weitzel J, Lassam N, Lynch H, Hogg D. Loo JC, et al. Oncogene. 2003 Sep 25;22(41):6387-94. doi: 10.1038/sj.onc.1206736. Oncogene. 2003. PMID: 14508519
Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study.
Demenais F, Mohamdi H, Chaudru V, Goldstein AM, Newton Bishop JA, Bishop DT, Kanetsky PA, Hayward NK, Gillanders E, Elder DE, Avril MF, Azizi E, van Belle P, Bergman W, Bianchi-Scarrà G, Bressac-de Paillerets B, Calista D, Carrera C, Hansson J, Harland M, Hogg D, Höiom V, Holland EA, Ingvar C, Landi MT, Lang JM, Mackie RM, Mann GJ, Ming ME, Njauw CJ, Olsson H, Palmer J, Pastorino L, Puig S, Randerson-Moor J, Stark M, Tsao H, Tucker MA, van der Velden P, Yang XR, Gruis N; Melanoma Genetics Consortium. Demenais F, et al. J Natl Cancer Inst. 2010 Oct 20;102(20):1568-83. doi: 10.1093/jnci/djq363. Epub 2010 Sep 28. J Natl Cancer Inst. 2010. PMID: 20876876 Free PMC article.