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Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in Patients With Osteosarcoma.
Mirabello L, Zhu B, Koster R, Karlins E, Dean M, Yeager M, Gianferante M, Spector LG, Morton LM, Karyadi D, Robison LL, Armstrong GT, Bhatia S, Song L, Pankratz N, Pinheiro M, Gastier-Foster JM, Gorlick R, de Toledo SRC, Petrilli AS, Patino-Garcia A, Lecanda F, Gutierrez-Jimeno M, Serra M, Hattinger C, Picci P, Scotlandi K, Flanagan AM, Tirabosco R, Amary MF, Kurucu N, Ilhan IE, Ballinger ML, Thomas DM, Barkauskas DA, Mejia-Baltodano G, Valverde P, Hicks BD, Zhu B, Wang M, Hutchinson AA, Tucker M, Sampson J, Landi MT, Freedman ND, Gapstur S, Carter B, Hoover RN, Chanock SJ, Savage SA. Mirabello L, et al. Among authors: mejia baltodano g. JAMA Oncol. 2020 May 1;6(5):724-734. doi: 10.1001/jamaoncol.2020.0197. JAMA Oncol. 2020. PMID: 32191290 Free PMC article.
Hb Presbyterian (HBB: c.327C>G) in a Nicaraguan Family.
Pernudy-Ubau A, Salinas-Molina J, Requenez Y, Ortiz-Lopez M, Puller AC, García-Rosales K, Rodríguez-Estrada A, Rodríguez-Romero W, Mejía-Baltodano G, Luo HY, Chui DHK. Pernudy-Ubau A, et al. Among authors: mejia baltodano g. Hemoglobin. 2017 Jan;41(1):50-52. doi: 10.1080/03630269.2017.1302949. Epub 2017 Apr 11. Hemoglobin. 2017. PMID: 28395541
Sex reversal due to Xp disomy by t(X;Y)(p21;q11).
Vasquez AI, Rivera H, Mayorquin A, Mejia-Baltodano G, Escalante A, Sanchez-Corona J. Vasquez AI, et al. Among authors: mejia baltodano g. Genet Couns. 1999;10(3):301-4. Genet Couns. 1999. PMID: 10546103