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Year Number of Results
2014 2
2016 1
2018 3
2019 1
2020 1
2021 5
2022 2
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2024 1

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Page 1
Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature.
Parra A, Rabin R, Pappas J, Pascual P, Cazalla M, Arias P, Gallego-Zazo N, Santana A, Arroyo I, Artigas M, Pachajoa H, Alanay Y, Akgun-Dogan O, Ruaud L, Couque N, Levy J, Porras-Hurtado GL, Santos-Simarro F, Ballesta-Martinez MJ, Guillén-Navarro E, Muñoz-Hernández H, Nevado J, Spanish OverGrowth Registry Initiative, Tenorio-Castano J, Lapunzina P. Parra A, et al. Among authors: porras hurtado gl. Genes (Basel). 2023 May 29;14(6):1179. doi: 10.3390/genes14061179. Genes (Basel). 2023. PMID: 37372360 Free PMC article. Review.
Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency.
Yverneau M, Leroux S, Imbard A, Gleich F, Arion A, Moreau C, Nassogne MC, Szymanowski M, Tardieu M, Touati G, Bueno M, Chapman KA, Chien YH, Huemer M, Ješina P, Janssen MCH, Kölker S, Kožich V, Lavigne C, Lund AM, Mochel F, Morris A, Pons MR, Porras-Hurtado GL, Benoist JF, Damaj L, Schiff M; E-HOD Consortium. Yverneau M, et al. Among authors: porras hurtado gl. J Inherit Metab Dis. 2022 Jul;45(4):848-861. doi: 10.1002/jimd.12504. Epub 2022 May 9. J Inherit Metab Dis. 2022. PMID: 35460084 Free article.
Hypersensitivity reactions and enzyme replacement therapy: Outcomes and safety of rapid desensitization in 1,008 infusions.
Aranda CS, Aun MV, Souza CFM, Pinto LLC, Porras-Hurtado GL, Salgado OFS, Arantes RR, Martins AM, Solé D. Aranda CS, et al. Among authors: porras hurtado gl. J Allergy Clin Immunol Pract. 2022 Mar;10(3):870-873.e1. doi: 10.1016/j.jaip.2021.10.052. Epub 2021 Nov 4. J Allergy Clin Immunol Pract. 2022. PMID: 34742930 Free article. No abstract available.
OPCML is hypermethylated in a subset of patients with metaplastic changes in their esophagus.
Castaño-Rodríguez N, Popple GL, Porras-Hurtado GL, Cardona-Deazza JL, Montoya-Martinez JJ, Cadavid-Velez AJ, Toro-Hidalgo HW, Cobo-Alvarado AR, Del Socorro Hincapié-Rincón O, Riordan SM, Kaakoush NO. Castaño-Rodríguez N, et al. Among authors: porras hurtado gl. Biomark Res. 2018 Dec 7;6:35. doi: 10.1186/s40364-018-0150-y. eCollection 2018. Biomark Res. 2018. PMID: 30555700 Free PMC article.
[Prevalence of birth defects in Risaralda, 2010-2013].
Porras-Hurtado GL, León-Castañeda OM, Molano-Hurtado J, Quiceno SL, Pachajoa H, Montoya JJ. Porras-Hurtado GL, et al. Biomedica. 2016 Dec 1;36(4):556-563. doi: 10.7705/biomedica.v36i4.2771. Biomedica. 2016. PMID: 27992982 Free article. Spanish.
Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features.
Zaki MS, Accogli A, Mirzaa G, Rahman F, Mohammed H, Porras-Hurtado GL, Efthymiou S, Maqbool S, Shukla A, Vincent JB, Hussain A, Mir A, Beetz C, Leubauer A, Houlden H, Gleeson JG, Maroofian R. Zaki MS, et al. Among authors: porras hurtado gl. Eur J Hum Genet. 2021 Aug;29(8):1226-1234. doi: 10.1038/s41431-021-00910-0. Epub 2021 Jun 24. Eur J Hum Genet. 2021. PMID: 34163010 Free PMC article.
16 results