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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
Report and review of the fetal brain disruption sequence.
Corona-Rivera JR, Corona-Rivera E, Romero-Velarde E, Hernández-Rocha J, Bobadilla-Morales L, Corona-Rivera A. Corona-Rivera JR, et al. Eur J Pediatr. 2001 Nov;160(11):664-7. doi: 10.1007/s004310100813. Eur J Pediatr. 2001. PMID: 11760023 Review.
Chromosome instability in a patient with recurrent abortions.
Bobadilla-Morales L, Cervantes-Luna MI, García-Cobián TA, Gómez-Meda BC, de la Torre CO, Corona-Rivera JR, Corona-Rivera A. Bobadilla-Morales L, et al. Genet Couns. 2009;20(2):153-9. Genet Couns. 2009. PMID: 19658259
Angelman syndrome and thyroid dysfunction.
Monterrubio-Ledezma CE, Bobadilla-Morales L, Pimentel-Gutiérrez HJ, Corona-Rivera JR, Corona-Rivera A. Monterrubio-Ledezma CE, et al. Genet Couns. 2012;23(3):353-7. Genet Couns. 2012. PMID: 23072182
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. Clin Genet. 2017 Apr;91(4):640-646. doi: 10.1111/cge.12924. Epub 2017 Feb 16. Clin Genet. 2017. PMID: 27874174
Aneuploidy identification in pre-B acute lymphoblastic leukemia patients at diagnosis by Multiplex Ligation-dependent Probe Amplification (MLPA).
Vázquez-Reyes A, Bobadilla-Morales L, Barba-Barba C, Macías-Salcedo G, Serafín-Saucedo G, Velázquez-Rivera ME, Almodóvar-Cuevas MC, Márquez-Mora A, Pimentel-Gutiérrez HJ, Ortega-de-la-Torre C, Cruz-Osorio RM, Nava-Gervasio S, Rivera-Vargas J, Sánchez-Zubieta F, Corona-Rivera JR, Corona-Rivera A. Vázquez-Reyes A, et al. Leuk Res. 2017 Aug;59:117-123. doi: 10.1016/j.leukres.2017.05.022. Epub 2017 Jun 1. Leuk Res. 2017. PMID: 28624713
59 results