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Clinical Exome Sequencing Enables Congenital Sialidosis Type II Diagnosis in Two Siblings Presenting with Unreported Clinical Features from a Rare Homozygous Sequence Variant p.(Tyr370Cys) in NEU1.
Flores-Contreras EA, García-Ortiz JE, Robles-Espinoza CD, Zomosa-Signoret V, Becerra-Solano LE, Vidaltamayo R, Castaneda-García C, Esparza-García E, Molina-Aguilar C, Hernández-Orozco AA, Córdova-Fletes C. Flores-Contreras EA, et al. Mol Syndromol. 2021 Jul;12(4):250-257. doi: 10.1159/000515081. Epub 2021 Jun 17. Mol Syndromol. 2021. PMID: 34421504 Free PMC article.
Acral lentiginous melanoma: Basic facts, biological characteristics and research perspectives of an understudied disease.
Basurto-Lozada P, Molina-Aguilar C, Castaneda-Garcia C, Vázquez-Cruz ME, Garcia-Salinas OI, Álvarez-Cano A, Martínez-Said H, Roldán-Marín R, Adams DJ, Possik PA, Robles-Espinoza CD. Basurto-Lozada P, et al. Pigment Cell Melanoma Res. 2021 Jan;34(1):59-71. doi: 10.1111/pcmr.12885. Epub 2020 Jun 17. Pigment Cell Melanoma Res. 2021. PMID: 32330367 Free PMC article. Review.
Genomic Characterization of a Rare, de Novo Unbalanced ins(3;1)(p25.3;q21.3q23.3) in a Female Child with Multiple Congenital Anomalies.
Ornelas-Arana ML, Pérez-Garcia G, Robles-Espinoza CD, Rangel-Sosa MM, Castaneda-Garcia C, Juárez-Vázquez CI, López-Pérez LG, Pérez-Ornelas C, Hernández-Zaragoza G, Lara-Aguilar RA, Córdova-Fletes C. Ornelas-Arana ML, et al. Cytogenet Genome Res. 2020;160(10):579-588. doi: 10.1159/000511234. Epub 2020 Nov 5. Cytogenet Genome Res. 2020. PMID: 33152732
Defining novel causal SNPs and linked phenotypes at melanoma-associated loci.
Castaneda-Garcia C, Iyer V, Nsengimana J, Trower A, Droop A, Brown KM, Choi J, Zhang T, Harland M, Newton-Bishop JA, Bishop DT, Adams DJ, Iles MM, Robles-Espinoza CD. Castaneda-Garcia C, et al. Among authors: robles espinoza cd. Hum Mol Genet. 2022 Aug 25;31(17):2845-2856. doi: 10.1093/hmg/ddac074. Hum Mol Genet. 2022. PMID: 35357426 Free PMC article.
A chromoanagenesis-driven ultra-complex t(5;7;21)dn truncates neurodevelopmental genes in a disabled boy as revealed by whole-genome sequencing.
Córdova-Fletes C, Rivera H, Aguayo-Orozco TA, Martínez-Jacobo LA, Garza-González E, Robles-Espinoza CD, Basurto-Lozada P, Avalos-Gómez HG, Esparza-García E, Domínguez-Quezada MG. Córdova-Fletes C, et al. Among authors: robles espinoza cd. Eur J Med Genet. 2022 Oct;65(10):104579. doi: 10.1016/j.ejmg.2022.104579. Epub 2022 Aug 3. Eur J Med Genet. 2022. PMID: 35933106
Tackling the lack of diversity in cancer research.
Molina-Aguilar C, Robles-Espinoza CD. Molina-Aguilar C, et al. Among authors: robles espinoza cd. Dis Model Mech. 2023 Sep 1;16(9):dmm050275. doi: 10.1242/dmm.050275. Epub 2023 Sep 8. Dis Model Mech. 2023. PMID: 37681401 Free PMC article.
A population-based analysis of germline BAP1 mutations in melanoma.
O'Shea SJ, Robles-Espinoza CD, McLellan L, Harrigan J, Jacq X, Hewinson J, Iyer V, Merchant W, Elliott F, Harland M, Bishop DT, Newton-Bishop JA, Adams DJ. O'Shea SJ, et al. Hum Mol Genet. 2017 Feb 15;26(4):717-728. doi: 10.1093/hmg/ddw403. Hum Mol Genet. 2017. PMID: 28062663 Free PMC article.
Somatic Mutational Landscape in Mexican Patients: CDH1 Mutations and chr20q13.33 Amplifications Are Associated with Diffuse-Type Gastric Adenocarcinoma.
Cerrato-Izaguirre D, Chirino YI, Prada D, Quezada-Maldonado EM, Herrera LA, Hernández-Guerrero A, Alonso-Larraga JO, Herrera-Goepfert R, Oñate-Ocaña LF, Cantú-de-León D, Meneses-García A, Basurto-Lozada P, Robles-Espinoza CD, Camacho J, García-Cuellar CM, Sánchez-Pérez Y. Cerrato-Izaguirre D, et al. Among authors: robles espinoza cd. Int J Mol Sci. 2022 Sep 21;23(19):11116. doi: 10.3390/ijms231911116. Int J Mol Sci. 2022. PMID: 36232418 Free PMC article.
50 results