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Page 1
Turner syndrome in diverse populations.
Kruszka P, Addissie YA, Tekendo-Ngongang C, Jones KL, Savage SK, Gupta N, Sirisena ND, Dissanayake VHW, Paththinige CS, Aravena T, Nampoothiri S, Yesodharan D, Girisha KM, Patil SJ, Jamuar SS, Goh JC, Utari A, Sihombing N, Mishra R, Chitrakar NS, Iriele BC, Lulseged E, Megarbane A, Uwineza A, Oyenusi EE, Olopade OB, Fasanmade OA, Duenas-Roque MM, Thong MK, Tung JYL, Mok GTK, Fleischer N, Rwegerera GM, de Herreros MB, Watts J, Fieggen K, Huckstadt V, Moresco A, Obregon MG, Hussen DF, Ashaat NA, Ashaat EA, Chung BHY, Badoe E, Faradz SMH, El Ruby MO, Shotelersuk V, Wonkam A, Ekure EN, Phadke SR, Richieri-Costa A, Muenke M. Kruszka P, et al. Among authors: duenas roque mm. Am J Med Genet A. 2020 Feb;182(2):303-313. doi: 10.1002/ajmg.a.61461. Epub 2019 Dec 19. Am J Med Genet A. 2020. PMID: 31854143 Free PMC article.
Damaging variants in FOXI3 cause microtia and craniofacial microsomia.
Quiat D, Timberlake AT, Curran JJ, Cunningham ML, McDonough B, Artunduaga MA, DePalma SR, Duenas-Roque MM, Gorham JM, Gustafson JA, Hamdan U, Hing AV, Hurtado-Villa P, Nicolau Y, Osorno G, Pachajoa H, Porras-Hurtado GL, Quintanilla-Dieck L, Serrano L, Tumblin M, Zarante I, Luquetti DV, Eavey RD, Heike CL, Seidman JG, Seidman CE. Quiat D, et al. Among authors: duenas roque mm. Genet Med. 2023 Jan;25(1):143-150. doi: 10.1016/j.gim.2022.09.005. Epub 2022 Oct 19. Genet Med. 2023. PMID: 36260083 Free PMC article.
MYT1 role in the microtia-craniofacial microsomia spectrum.
Luquetti DV, Heike CL, Zarante I, Timms AE, Gustafson J, Pachajoa H, Porras-Hurtado GL, Ayala-Ramirez P, Duenas-Roque MM, Jimenez N, Ibanez LM, Hurtado-Villa P. Luquetti DV, et al. Among authors: duenas roque mm. Mol Genet Genomic Med. 2020 Oct;8(10):e1401. doi: 10.1002/mgg3.1401. Epub 2020 Sep 1. Mol Genet Genomic Med. 2020. PMID: 32871052 Free PMC article.
Haploinsufficiency of SF3B2 causes craniofacial microsomia.
Timberlake AT, Griffin C, Heike CL, Hing AV, Cunningham ML, Chitayat D, Davis MR, Doust SJ, Drake AF, Duenas-Roque MM, Goldblatt J, Gustafson JA, Hurtado-Villa P, Johns A, Karp N, Laing NG, Magee L; University of Washington Center for Mendelian Genomics; Mullegama SV, Pachajoa H, Porras-Hurtado GL, Schnur RE, Slee J, Singer SL, Staffenberg DA, Timms AE, Wise CA, Zarante I, Saint-Jeannet JP, Luquetti DV. Timberlake AT, et al. Among authors: duenas roque mm. Nat Commun. 2021 Aug 3;12(1):4680. doi: 10.1038/s41467-021-24852-9. Nat Commun. 2021. PMID: 34344887 Free PMC article.
Novel mutation in ENG gene causing Hereditary Hemorrhagic Telangiectasia in a Peruvian family.
Zevallos-Morales A, Murillo A, Dueñas-Roque MM, Prötzel A, Venegas-Tresierra L, Ángeles-Villalba V, Guevara-Cruz M, Chávez-Gil A, Fujita R, Guevara-Fujita ML. Zevallos-Morales A, et al. Among authors: duenas roque mm. Genet Mol Biol. 2020 Feb 27;43(1):e20190126. doi: 10.1590/1678-4685-GMB-2019-0126. eCollection 2020. Genet Mol Biol. 2020. PMID: 32105286 Free PMC article.
MLPA followed by target-NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB.
Guevara-Fujita ML, Huaman-Dianderas F, Obispo D, Sánchez R, Barrenechea V, Rojas-Málaga D, Estrada-Cuzcano A, Trubnykova M, Cornejo-Olivas M, Marca V, Gallardo B, Dueñas-Roque M, Protzel A, Castañeda C, Abarca H, Celis L, La Serna-Infantes J, Fujita R. Guevara-Fujita ML, et al. Mol Genet Genomic Med. 2021 Sep;9(9):e1759. doi: 10.1002/mgg3.1759. Epub 2021 Jul 29. Mol Genet Genomic Med. 2021. PMID: 34327855 Free PMC article.
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.
New SHH and Known SIX3 Variants in a Series of Latin American Patients with Holoprosencephaly.
de Castro VF, Mattos D, de Carvalho FM, Cavalcanti DP, Duenas-Roque MM, Llerena J Jr, Cosentino VR, Honjo RS, Leite JCL, Sanseverino MT, de Souza MPA, Bernardi P, Bolognese AM, Santana da Silva LC, Barbero P, Correia PS, Bueno LSM, Savastano CP, Orioli IM. de Castro VF, et al. Among authors: duenas roque mm. Mol Syndromol. 2021 Jul;12(4):219-233. doi: 10.1159/000515044. Epub 2021 Jun 15. Mol Syndromol. 2021. PMID: 34421500 Free PMC article.
[Factors associated with survival at one year of life in neonates with severe congenital cardiopathy in A National Hospital in Peru].
Torres-Romucho CE, Uriondo-Ore VG, Ramirez-Palomino AJ, Arroyo-Hernández H, Loo-Valverde M, Protzel-Pinedo A, Dueñas-Roque M. Torres-Romucho CE, et al. Rev Peru Med Exp Salud Publica. 2019 Jul-Sep;36(3):433-441. doi: 10.17843/rpmesp.2019.363.4166. Epub 2019 Dec 2. Rev Peru Med Exp Salud Publica. 2019. PMID: 31800935 Spanish.
Clinical genome sequencing in patients with suspected rare genetic disease in Peru.
Bazalar-Montoya J, Cornejo-Olivas M, Duenas-Roque MM, Purizaca-Rosillo N, Rodriguez RS, Milla-Neyra K, De La Torre-Hernandez CA, Sarapura-Castro E, Galarreta Aima CI, Manassero-Morales G, Chávez-Pasco G, Celis-García L, La Serna-Infantes JE; Illumina Laboratory Services Bioinformatics, Software, Interpretation and Customer Support; Chekalin E, Thorpe E, Taft RJ. Bazalar-Montoya J, et al. Among authors: duenas roque mm. NPJ Genom Med. 2024 Oct 28;9(1):51. doi: 10.1038/s41525-024-00434-8. NPJ Genom Med. 2024. PMID: 39468051 Free PMC article.
12 results