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A 2.84 Mb deletion at 21q22.11 in a patient clinically diagnosed with Marden-Walker syndrome.
Carrascosa-Romero MC, Suela J, Pardal-Fernández JM, Bermejo-Sánchez E, Vidal-Company A, MacDonald A, Tébar-Gil R, Martínez-Fernández ML, Martínez-Frías ML. Carrascosa-Romero MC, et al. Among authors: suela j. Am J Med Genet A. 2013 Sep;161A(9):2281-90. doi: 10.1002/ajmg.a.35862. Epub 2013 Jul 25. Am J Med Genet A. 2013. PMID: 23894067
Neonatal detection of 5p13.2 duplication and delineation of the phenotype.
Carrascosa Romero MC, García Hoyo R, Calvente M, Baquero Cano M, González Castillo L, Suela J. Carrascosa Romero MC, et al. Among authors: suela j. Am J Med Genet A. 2012 Apr;158A(4):877-81. doi: 10.1002/ajmg.a.35237. Epub 2012 Mar 9. Am J Med Genet A. 2012. PMID: 22407779
[Genetics applied to clinical practice in neurodevelopmental disorders].
Fernández-Jaén A, Cigudosa JC, Martín Fernández-Mayoralas D, Suela J, Fernández-Perrone AL, Calleja-Pérez B, López-Martín S. Fernández-Jaén A, et al. Among authors: suela j. Rev Neurol. 2014 Feb 24;58 Suppl 1:S65-70. Rev Neurol. 2014. PMID: 25252670 Review. Spanish.
Myeloid neoplasms with der(1)t(1;19) may constitute a specific entity characterized by a cytogenetic biomarker and gene mutations involved in DNA methylation.
Salgado RN, Menezes J, Calvente M, Suela J, Acquadro F, Martínez-Laperche C, Flores R, Trujillo M, Alvarez S, Cigudosa JC. Salgado RN, et al. Among authors: suela j. Leuk Lymphoma. 2014 Nov;55(11):2652-5. doi: 10.3109/10428194.2014.891024. Epub 2014 Mar 17. Leuk Lymphoma. 2014. PMID: 24635575 No abstract available.
Identifying occult maternal malignancies from 1.93 million pregnant women undergoing noninvasive prenatal screening tests.
Ji X, Li J, Huang Y, Sung PL, Yuan Y, Liu Q, Chen Y, Ju J, Zhou Y, Huang S, Chen F, Han Y, Yuan W, Fan C, Zhao Q, Wu H, Feng S, Liu W, Li Z, Chen J, Chen M, Yao H, Zeng L, Ma T, Fan S, Zhang J, Yuen KY, Cheng SH, Chik IWS, Liu NT, Zhu J, Lin S, Cao J, Tong S, Shan Z, Li W, Hekmat MR, Garshasbi M, Suela J, Torres Y, Cigudosa JC, Ruiz FJP, Rodríguez L, García M, Bernik J, Traven E, Reš U, Tul N, Tseng CF, Zhao D, Sun L, Pan Q, Shen L, Dai M, Wang Y, Wang J, Yang H, Yin Y, Duan T, Zhu B, Choolani M, Jin X, Chen Y, Mao M. Ji X, et al. Among authors: suela j. Genet Med. 2019 Oct;21(10):2293-2302. doi: 10.1038/s41436-019-0510-5. Epub 2019 Apr 12. Genet Med. 2019. PMID: 30976098 Free article.
35 results