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[Prader-Willi and Angelman syndromes: case series diagnosed by MS-MLPA assay].
Rios-Flores IM, Bobadilla-Morales L, Peña Padilla C, Corona-Rivera A, Acosta-Fernández E, Santana-Hernández J, Brukman-Jiménez SA, Corona Rivera JR. Rios-Flores IM, et al. Among authors: acosta fernandez e. Rev Med Inst Mex Seguro Soc. 2021 Jun 14;59(2):170-178. Rev Med Inst Mex Seguro Soc. 2021. PMID: 34232598 Spanish.
Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation.
Acosta-Fernández E, Zenteno JC, Chacón-Camacho OF, Peña-Padilla C, Bobadilla-Morales L, Corona-Rivera A, Romo-Huerta CO, Zepeda-Romero LC, López-Marure E, Acosta-León J, García-Cruz D, Maciel-Cruz EJ, Corona-Rivera JR. Acosta-Fernández E, et al. Am J Med Genet A. 2020 May;182(5):1223-1229. doi: 10.1002/ajmg.a.61506. Epub 2020 Feb 5. Am J Med Genet A. 2020. PMID: 32022998
Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy.
Peña-Padilla C, Marshall CR, Walker S, Scherer SW, Tavares-Macías G, Razo-Jiménez G, Bobadilla-Morales L, Acosta-Fernández E, Corona-Rivera A, Mendoza-Londono R, Corona-Rivera JR. Peña-Padilla C, et al. Among authors: acosta fernandez e. Clin Genet. 2017 Apr;91(4):640-646. doi: 10.1111/cge.12924. Epub 2017 Feb 16. Clin Genet. 2017. PMID: 27874174
A Family with EEC Syndrome in the Son and ADULT Syndrome in His Father Caused by the c.797G>A (p.Arg266Gln) Pathogenic Variant in the TP63 Gene.
Corona-Rivera JR, Rios-Flores IM, Zenteno JC, Peña-Padilla C, Castillo-Reyes K, Bobadilla-Morales L, Corona-Rivera A, Acosta-Fernández E, Bruckman-Jiménez A. Corona-Rivera JR, et al. Among authors: acosta fernandez e. Mol Syndromol. 2024 Feb;15(1):51-57. doi: 10.1159/000531934. Epub 2023 Aug 18. Mol Syndromol. 2024. PMID: 38357259