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Genetics and genomics in Peru: Clinical and research perspective.
Guio H, Poterico JA, Levano KS, Cornejo-Olivas M, Mazzetti P, Manassero-Morales G, Ugarte-Gil MF, Acevedo-Vásquez E, Dueñas-Roque M, Piscoya A, Fujita R, Sanchez C, Casavilca-Zambrano S, Jaramillo-Valverde L, Sullcahuaman-Allende Y, Iglesias-Pedraz JM, Abarca-Barriga H. Guio H, et al. Mol Genet Genomic Med. 2018 Nov;6(6):873-886. doi: 10.1002/mgg3.533. Mol Genet Genomic Med. 2018. PMID: 30584990 Free PMC article. Review.
A Peruvian Child with 18p-/18q+ Syndrome and Persistent Microscopic Hematuria.
Poterico JA, Vásquez F, Chávez-Pastor M, Trubnykova M, Chavesta F, Chirinos J, Salcedo N, Mena R, Cubas S, González R, Alvariño R, Abarca-Barriga H. Poterico JA, et al. J Pediatr Genet. 2017 Dec;6(4):258-266. doi: 10.1055/s-0037-1604099. Epub 2017 Jul 6. J Pediatr Genet. 2017. PMID: 29142771 Free PMC article.
High prevalence of congenital generalized lipodystrophy in Piura, Peru.
Purizaca-Rosillo ND, Benites-Cóndor YE, Abarca Barriga H, Del Águila Villar C, Chávez Pastor M, Franco Palacios L, Olea Zapata R, Rejas Parodi J, Martinez Uceda L, Chavesta Velásquez F, Gamarra Vilela J, Arámbulo Castillo S, Ávila Reyes A. Purizaca-Rosillo ND, et al. Among authors: abarca barriga h. Intractable Rare Dis Res. 2020 Feb;9(1):58-60. doi: 10.5582/irdr.2020.01004. Intractable Rare Dis Res. 2020. PMID: 32201678 Free PMC article.
A novel ASPH variant extends the phenotype of Shawaf-Traboulsi syndrome.
Abarca Barriga HH, Caballero N, Trubnykova M, Castro-Mujica MDC, La Serna-Infantes JE, Vásquez F, Hennekam RC. Abarca Barriga HH, et al. Am J Med Genet A. 2018 Nov;176(11):2494-2500. doi: 10.1002/ajmg.a.40508. Epub 2018 Sep 8. Am J Med Genet A. 2018. PMID: 30194805
Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases.
Montenegro-Garreaud X, Hansen AW, Khayat MM, Chander V, Grochowski CM, Jiang Y, Li H, Mitani T, Kessler E, Jayaseelan J, Shen H, Gezdirici A, Pehlivan D, Meng Q, Rosenfeld JA, Jhangiani SN, Madan-Khetarpal S, Scott DA, Abarca-Barriga H, Trubnykova M, Gingras MC, Muzny DM, Posey JE, Liu P, Lupski JR, Gibbs RA. Montenegro-Garreaud X, et al. Among authors: abarca barriga h. Hum Mutat. 2020 Dec;41(12):2094-2104. doi: 10.1002/humu.24118. Epub 2020 Oct 8. Hum Mutat. 2020. PMID: 32935419 Free PMC article. Review.
[H syndrome: First reported paediatric case in Latin America].
Abarca Barriga HH, Trubnykova M, Polar Córdoba V, Ramos Diaz KJ, Aviles Alfaro N. Abarca Barriga HH, et al. Rev Chil Pediatr. 2016 Nov-Dec;87(6):494-499. doi: 10.1016/j.rchipe.2016.03.006. Epub 2016 Apr 30. Rev Chil Pediatr. 2016. PMID: 27143505 Free article. Spanish.
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