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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: ceccherini i. 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.
Incidence of RET mutations in patients with Hirschsprung's disease.
Sancandi M, Ceccherini I, Costa M, Fava M, Chen B, Wu Y, Hofstra R, Laurie T, Griffths M, Burge D, Tam PK. Sancandi M, et al. Among authors: ceccherini i. J Pediatr Surg. 2000 Jan;35(1):139-42; discussion 142-3. doi: 10.1016/s0022-3468(00)80031-7. J Pediatr Surg. 2000. PMID: 10646792
Pathogenesis of Hirschsprung's disease.
Martucciello G, Ceccherini I, Lerone M, Jasonni V. Martucciello G, et al. Among authors: ceccherini i. J Pediatr Surg. 2000 Jul;35(7):1017-25. doi: 10.1053/jpsu.2000.7763. J Pediatr Surg. 2000. PMID: 10917288 Review.
Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2.
Burzynski GM, Nolte IM, Osinga J, Ceccherini I, Twigt B, Maas S, Brooks A, Verheij J, Plaza Menacho I, Buys CH, Hofstra RM. Burzynski GM, et al. Among authors: ceccherini i. Eur J Hum Genet. 2004 Aug;12(8):604-12. doi: 10.1038/sj.ejhg.5201199. Eur J Hum Genet. 2004. PMID: 15138456
Hirschsprung disease, associated syndromes and genetics: a review.
Amiel J, Sproat-Emison E, Garcia-Barcelo M, Lantieri F, Burzynski G, Borrego S, Pelet A, Arnold S, Miao X, Griseri P, Brooks AS, Antinolo G, de Pontual L, Clement-Ziza M, Munnich A, Kashuk C, West K, Wong KK, Lyonnet S, Chakravarti A, Tam PK, Ceccherini I, Hofstra RM, Fernandez R; Hirschsprung Disease Consortium. Amiel J, et al. Among authors: ceccherini i. J Med Genet. 2008 Jan;45(1):1-14. doi: 10.1136/jmg.2007.053959. Epub 2007 Oct 26. J Med Genet. 2008. PMID: 17965226 Review.
265 results