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Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
JAMA Neurol. 2022 Dec 1;79(12):1267-1276. doi: 10.1001/jamaneurol.2022.3651.
JAMA Neurol. 2022.
PMID: 36315135
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.
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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.
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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.
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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.
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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.
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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.
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