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Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease.
Jannot AS, Amiel J, Pelet A, Lantieri F, Fernandez RM, Verheij JB, Garcia-Barcelo M, Arnold S, Ceccherini I, Borrego S, Hofstra RM, Tam PK, Munnich A, Chakravarti A, Clerget-Darpoux F, Lyonnet S. Jannot AS, et al. Eur J Hum Genet. 2012 Sep;20(9):917-20. doi: 10.1038/ejhg.2012.35. Epub 2012 Mar 7. Eur J Hum Genet. 2012. PMID: 22395866 Free PMC article.
Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability.
Emison ES, Garcia-Barcelo M, Grice EA, Lantieri F, Amiel J, Burzynski G, Fernandez RM, Hao L, Kashuk C, West K, Miao X, Tam PK, Griseri P, Ceccherini I, Pelet A, Jannot AS, de Pontual L, Henrion-Caude A, Lyonnet S, Verheij JB, Hofstra RM, Antiñolo G, Borrego S, McCallion AS, Chakravarti A. Emison ES, et al. Am J Hum Genet. 2010 Jul 9;87(1):60-74. doi: 10.1016/j.ajhg.2010.06.007. Am J Hum Genet. 2010. PMID: 20598273 Free PMC article.
Genetic basis of Hirschsprung's disease.
Tam PK, Garcia-Barceló M. Tam PK, et al. Pediatr Surg Int. 2009 Jul;25(7):543-58. doi: 10.1007/s00383-009-2402-2. Epub 2009 Jun 12. Pediatr Surg Int. 2009. PMID: 19521704 Review.
Hirschsprung's disease.
Kenny SE, Tam PK, Garcia-Barcelo M. Kenny SE, et al. Semin Pediatr Surg. 2010 Aug;19(3):194-200. doi: 10.1053/j.sempedsurg.2010.03.004. Semin Pediatr Surg. 2010. PMID: 20610192 Free article. Review.
Molecular genetics of Hirschsprung's disease.
Tam PK, Garcia-Barcelo M. Tam PK, et al. Semin Pediatr Surg. 2004 Nov;13(4):236-48. doi: 10.1053/j.sempedsurg.2004.10.011. Semin Pediatr Surg. 2004. PMID: 15660317 Review. No abstract available.
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: garcia barcelo m. 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.
129 results