Bermúdez-Guzmán L - Search Results

1

The lack of Tex44 causes severe subfertility with flagellar abnormalities in male mice.

Dupuis S, Girault MS, Le Beulze M, Ialy-Radio C, Bermúdez-Guzmán L, Ziyyat A, Barbaux S. Dupuis S, et al. Among authors: bermudez guzman l. Cell Mol Biol Lett. 2024 May 15;29(1):74. doi: 10.1186/s11658-024-00587-5. Cell Mol Biol Lett. 2024. PMID: 38750428 Free PMC article.

2

CyberKnife Stereotactic Radiosurgery for Uveal Melanoma: First Case Series in Central America.

Benavides R, Mejías R, Blanco A, Bermudez-Guzman L. Benavides R, et al. Among authors: bermudez guzman l. Ocul Oncol Pathol. 2024 Apr;10(1):25-31. doi: 10.1159/000534207. Epub 2023 Sep 30. Ocul Oncol Pathol. 2024. PMID: 38645736 Free PMC article.

3

Linking genotype to trophoblast phenotype in preeclampsia and HELLP syndrome associated with STOX1 genetic variants.

Costa L, Bermudez-Guzman L, Benouda I, Laissue P, Morel A, Jiménez KM, Fournier T, Stouvenel L, Méhats C, Miralles F, Vaiman D. Costa L, et al. Among authors: bermudez guzman l. iScience. 2024 Feb 16;27(3):109260. doi: 10.1016/j.isci.2024.109260. eCollection 2024 Mar 15. iScience. 2024. PMID: 38439971 Free PMC article.

4

CyberKnife Stereotactic Radiosurgery for an Unusual Case of Large Brain Metastases From Ewing's Sarcoma in a Pediatric Patient.

Mejías R, Bermúdez-Guzmán L, Blanco A. Mejías R, et al. Among authors: bermudez guzman l. Adv Radiat Oncol. 2022 Apr 25;7(4):100979. doi: 10.1016/j.adro.2022.100979. eCollection 2022 Jul-Aug. Adv Radiat Oncol. 2022. PMID: 35814851 Free PMC article. No abstract available.

5

Pan-cancer analysis of non-oncogene addiction to DNA repair.

Bermúdez-Guzmán L. Bermúdez-Guzmán L. Sci Rep. 2021 Dec 1;11(1):23264. doi: 10.1038/s41598-021-02773-3. Sci Rep. 2021. PMID: 34853396 Free PMC article.

6

Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain.

Neuser S, Krey I, Schwan A, Abou Jamra R, Bartolomaeus T, Döring J, Syrbe S, Plassmann M, Rohde S, Roth C, Rehder H, Radtke M, Le Duc D, Schubert S, Bermúdez-Guzmán L, Leal A, Schoner K, Popp B. Neuser S, et al. Among authors: bermudez guzman l. Eur J Hum Genet. 2022 Jan;30(1):101-110. doi: 10.1038/s41431-021-00982-y. Epub 2021 Oct 25. Eur J Hum Genet. 2022. PMID: 34697416 Free PMC article.

7

The Time for Chronotherapy in Radiation Oncology.

Bermúdez-Guzmán L, Blanco-Saborío A, Ramírez-Zamora J, Lovo E. Bermúdez-Guzmán L, et al. Front Oncol. 2021 May 11;11:687672. doi: 10.3389/fonc.2021.687672. eCollection 2021. Front Oncol. 2021. PMID: 34046365 Free PMC article.

8

Functional and Structural Characterization of ClC-1 and Na_v1.4 Channels Resulting from CLCN1 and SCN4A Mutations Identified Alone and Coexisting in Myotonic Patients.

Brenes O, Barbieri R, Vásquez M, Vindas-Smith R, Roig J, Romero A, Valle GD, Bermúdez-Guzmán L, Bertelli S, Pusch M, Morales F. Brenes O, et al. Among authors: bermudez guzman l. Cells. 2021 Feb 11;10(2):374. doi: 10.3390/cells10020374. Cells. 2021. PMID: 33670307 Free PMC article.

9

Insights into the pathogenicity of missense variants in the forkhead domain of FOX proteins underlying Mendelian disorders.

Bermúdez-Guzmán L, Veitia RA. Bermúdez-Guzmán L, et al. Hum Genet. 2021 Jul;140(7):999-1010. doi: 10.1007/s00439-021-02267-2. Epub 2021 Feb 27. Hum Genet. 2021. PMID: 33638707

10

Mutational survivorship bias: The case of PNKP.

Bermúdez-Guzmán L, Jimenez-Huezo G, Arguedas A, Leal A. Bermúdez-Guzmán L, et al. PLoS One. 2020 Dec 17;15(12):e0237682. doi: 10.1371/journal.pone.0237682. eCollection 2020. PLoS One. 2020. PMID: 33332469 Free PMC article.

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