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Diverse mutational spectrum in the 13q14 chromosomal region in a Brazilian cohort of retinoblastoma.
Exp Eye Res. 2022 Nov;224:109211. doi: 10.1016/j.exer.2022.109211. Epub 2022 Aug 17.
Exp Eye Res. 2022.
PMID: 35985532
A new overgrowth syndrome is due to mutations in RNF125.
Tenorio J, Mansilla A, Valencia M, Martínez-Glez V, Romanelli V, Arias P, Castrejón N, Poletta F, Guillén-Navarro E, Gordo G, Mansilla E, García-Santiago F, González-Casado I, Vallespín E, Palomares M, Mori MA, Santos-Simarro F, García-Miñaur S, Fernández L, Mena R, Benito-Sanz S, del Pozo Á, Silla JC, Ibañez K, López-Granados E, Martín-Trujillo A, Montaner D; SOGRI Consortium; Heath KE, Campos-Barros Á, Dopazo J, Nevado J, Monk D, Ruiz-Pérez VL, Lapunzina P.
Tenorio J, et al.
Hum Mutat. 2014 Dec;35(12):1436-41. doi: 10.1002/humu.22689.
Hum Mutat. 2014.
PMID: 25196541
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Array CGH Analysis of Paired Blood and Tumor Samples from Patients with Sporadic Wilms Tumor.
Cabral de Almeida Cardoso L, Rodriguez-Laguna L, Del Carmen Crespo M, Vallespín E, Palomares-Bralo M, Martin-Arenas R, Rueda-Arenas I, Silvestre de Faria PA; GT-CSGP Working Group; García-Miguel P, Lapunzina P, Regla Vargas F, Seuanez HN, Martínez-Glez V.
Cabral de Almeida Cardoso L, et al. Among authors: regla vargas f.
PLoS One. 2015 Aug 28;10(8):e0136812. doi: 10.1371/journal.pone.0136812. eCollection 2015.
PLoS One. 2015.
PMID: 26317783
Free PMC article.
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Cancer genetic counseling in public health care hospitals: the experience of three Brazilian services.
Palmero EI, Kalakun L, Schüler-Faccini L, Giugliani R, Regla Vargas F, Rocha JC, Ashton-Prolla P.
Palmero EI, et al. Among authors: regla vargas f.
Community Genet. 2007;10(2):110-9. doi: 10.1159/000099089.
Community Genet. 2007.
PMID: 17380061
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