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A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease.
Mederer T, Schmitteckert S, Volz J, Martínez C, Röth R, Thumberger T, Eckstein V, Scheuerer J, Thöni C, Lasitschka F, Carstensen L, Günther P, Holland-Cunz S, Hofstra R, Brosens E, Rosenfeld JA, Schaaf CP, Schriemer D, Ceccherini I, Rusmini M, Tilghman J, Luzón-Toro B, Torroglosa A, Borrego S, Sze-Man Tang C, Garcia-Barceló M, Tam P, Paramasivam N, Bewerunge-Hudler M, De La Torre C, Gretz N, Rappold GA, Romero P, Niesler B. Mederer T, et al. Among authors: torroglosa a. PLoS Genet. 2020 Nov 5;16(11):e1009106. doi: 10.1371/journal.pgen.1009106. eCollection 2020 Nov. PLoS Genet. 2020. PMID: 33151932 Free PMC article.
What is new about the genetic background of Hirschsprung disease?
Luzón-Toro B, Villalba-Benito L, Torroglosa A, Fernández RM, Antiñolo G, Borrego S. Luzón-Toro B, et al. Among authors: torroglosa a. Clin Genet. 2020 Jan;97(1):114-124. doi: 10.1111/cge.13615. Epub 2019 Aug 5. Clin Genet. 2020. PMID: 31355911 Review.
Epigenetics in ENS development and Hirschsprung disease.
Torroglosa A, Alves MM, Fernández RM, Antiñolo G, Hofstra RM, Borrego S. Torroglosa A, et al. Dev Biol. 2016 Sep 15;417(2):209-16. doi: 10.1016/j.ydbio.2016.06.017. Epub 2016 Jun 16. Dev Biol. 2016. PMID: 27321561 Free article. Review.
Comprehensive analysis of NRG1 common and rare variants in Hirschsprung patients.
Luzón-Toro B, Torroglosa A, Núñez-Torres R, Enguix-Riego MV, Fernández RM, de Agustín JC, Antiñolo G, Borrego S. Luzón-Toro B, et al. Among authors: torroglosa a. PLoS One. 2012;7(5):e36524. doi: 10.1371/journal.pone.0036524. Epub 2012 May 4. PLoS One. 2012. PMID: 22574178 Free PMC article.
Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease.
Luzón-Toro B, Gui H, Ruiz-Ferrer M, Sze-Man Tang C, Fernández RM, Sham PC, Torroglosa A, Kwong-Hang Tam P, Espino-Paisán L, Cherny SS, Bleda M, Enguix-Riego Mdel V, Dopazo J, Antiñolo G, García-Barceló MM, Borrego S. Luzón-Toro B, et al. Among authors: torroglosa a. Sci Rep. 2015 Nov 12;5:16473. doi: 10.1038/srep16473. Sci Rep. 2015. PMID: 26559152 Free PMC article.
Epigenetic Mechanisms in Hirschsprung Disease.
Torroglosa A, Villalba-Benito L, Luzón-Toro B, Fernández RM, Antiñolo G, Borrego S. Torroglosa A, et al. Int J Mol Sci. 2019 Jun 26;20(13):3123. doi: 10.3390/ijms20133123. Int J Mol Sci. 2019. PMID: 31247956 Free PMC article. Review.
Genome-wide analysis of DNA methylation in Hirschsprung enteric precursor cells: unraveling the epigenetic landscape of enteric nervous system development.
Villalba-Benito L, López-López D, Torroglosa A, Casimiro-Soriguer CS, Luzón-Toro B, Fernández RM, Moya-Jiménez MJ, Antiñolo G, Dopazo J, Borrego S. Villalba-Benito L, et al. Among authors: torroglosa a. Clin Epigenetics. 2021 Mar 9;13(1):51. doi: 10.1186/s13148-021-01040-6. Clin Epigenetics. 2021. PMID: 33750457 Free PMC article.
22 results