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Page 1
TRAPPC11-CDG muscular dystrophy: Review of 54 cases including a novel patient.
Corona-Rivera JR, Martínez-Duncker I, Morava E, Ranatunga W, Salinas-Marin R, González-Jaimes AM, Castillo-Reyes KA, Peña-Padilla C, Bobadilla-Morales L, Corona-Rivera A, Orozco-Vela M, Brukman-Jiménez SA. Corona-Rivera JR, et al. Among authors: pena padilla c. Mol Genet Metab. 2024 May;142(1):108469. doi: 10.1016/j.ymgme.2024.108469. Epub 2024 Mar 28. Mol Genet Metab. 2024. PMID: 38564972 Review.
Acute liver failure in a male patient with NGLY1-congenital disorder of deglycosylation.
Rios-Flores IM, Bonal-Pérez MÁ, Castellanos-González A, Velez-Gómez E, Bertoli-Avella AM, Bobadilla-Morales L, Peña-Padilla C, Appendini-Andrade V, Corona-Rivera A, Romero-Valenzuela I, Corona-Rivera JR. Rios-Flores IM, et al. Eur J Med Genet. 2020 Aug;63(8):103952. doi: 10.1016/j.ejmg.2020.103952. Epub 2020 May 15. Eur J Med Genet. 2020. PMID: 32422350
Complete blood count differences in a cohort of Down syndrome neonates with transient abnormal myelopoiesis screened for GATA1 pathogenic variants.
Orozco-Vela M, Corona-Rivera A, Cruz-Osorio RM, Mendoza-Maldonado L, Márquez-Mora A, Barba-Barba CC, Peña-Padilla C, Baldomero-López A, Bobadilla-Morales L, Corona-Rivera JR. Orozco-Vela M, et al. Am J Med Genet A. 2020 Sep;182(9):2085-2093. doi: 10.1002/ajmg.a.61748. Epub 2020 Jul 18. Am J Med Genet A. 2020. PMID: 32681702
Intrafamilial phenotypic variability in autosomal recessive DOCK6-related Adams-Oliver syndrome.
Zepeda-Romero LC, Zenker M, Schanze D, Schanze I, Peña-Padilla C, Quezada-Salazar CA, Pacheco-Torres PA, Rivera-Montellano ML, Aguirre-Guillén RL, Bobadilla-Morales L, Corona-Rivera A, Corona-Rivera JR. Zepeda-Romero LC, et al. Eur J Med Genet. 2022 Dec;65(12):104653. doi: 10.1016/j.ejmg.2022.104653. Epub 2022 Oct 28. Eur J Med Genet. 2022. PMID: 36330903
Clinical insights from an unusual Turner syndrome manifestation: Congenital cutis verticis gyrata.
Corona-Rivera JR, Bustos Rodríguez FJ, Vega-Silva LL, Hernández-Camarena F, Peña-Padilla C, Castillo-Reyes KA, Cruz-Cruz JP, Bobadilla-Morales L, Corona-Rivera A. Corona-Rivera JR, et al. Among authors: pena padilla c. Am J Med Genet A. 2023 Jun;191(6):1669-1671. doi: 10.1002/ajmg.a.63183. Epub 2023 Mar 18. Am J Med Genet A. 2023. PMID: 36932882 Review.
First Report of Mexican Patients with PACS1-Related Neurodevelopmental Disorder and Review of the PACS1-, PACS2-, and WDR37-Related Ophthalmological Manifestations.
Corona-Rivera JR, Zenteno JC, López-Pérez LG, Yokoyama-Rebollar E, Villarroel CE, Barragán-Arévalo T, Montes-Almanza LÁ, Zepeda-Romero LC, Morales-Domínguez GE, Peña-Padilla C, Bobadilla-Morales L, Corona-Rivera A. Corona-Rivera JR, et al. Among authors: pena padilla c. Mol Syndromol. 2023 Apr;14(2):143-151. doi: 10.1159/000526975. Epub 2022 Dec 16. Mol Syndromol. 2023. PMID: 37064331 Free PMC article.
MTSS2-related neurodevelopmental disorder: Further delineation of the phenotype.
Corona-Rivera JR, Zenteno JC, Ordoñez-Labastida V, Cruz-Cruz JP, Cortés-Pastrana RC, Peña-Padilla C, Bobadilla-Morales L, Corona-Rivera A, Martínez-Herrera A. Corona-Rivera JR, et al. Among authors: pena padilla c. Eur J Med Genet. 2023 Oct;66(10):104826. doi: 10.1016/j.ejmg.2023.104826. Epub 2023 Aug 30. Eur J Med Genet. 2023. PMID: 37657631
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: pena padilla c. Mol Syndromol. 2024 Feb;15(1):51-57. doi: 10.1159/000531934. Epub 2023 Aug 18. Mol Syndromol. 2024. PMID: 38357259
Descriptive study of the complete blood count in newborn infants with Down syndrome.
Martínez-Macías FJ, Bobadilla-Morales L, González-Cruz J, Quiles-Corona M, Corona-Rivera A, Peña-Padilla C, Orozco-Vela M, Silva-Cruz R, Velarde-Rivera F, Corona-Rivera JR. Martínez-Macías FJ, et al. Am J Med Genet A. 2017 Apr;173(4):897-904. doi: 10.1002/ajmg.a.38097. Epub 2017 Feb 7. Am J Med Genet A. 2017. PMID: 28168815
30 results