Repetto GM - Search Results

1

Case fatality rate and associated factors in patients with 22q11 microdeletion syndrome: a retrospective cohort study.

Repetto GM, Guzmán ML, Delgado I, Loyola H, Palomares M, Lay-Son G, Vial C, Benavides F, Espinoza K, Alvarez P. Repetto GM, et al. BMJ Open. 2014 Nov 6;4(11):e005041. doi: 10.1136/bmjopen-2014-005041. BMJ Open. 2014. PMID: 25377008 Free PMC article.

2

[Clinical heterogeneity of the chromosome 22q11 microdeletion syndrome].

Muñoz S, Garay F, Flores I, Heusser F, Talesnik E, Aracena M, Mellado C, Méndez C, Arnaiz P, Repetto G. Muñoz S, et al. Rev Med Chil. 2001 May;129(5):515-21. Rev Med Chil. 2001. PMID: 11464533 Spanish.

3

XV-2c and KM.19 haplotype analysis in Chilean patients with cystic fibrosis and unknown CFTR gene mutations.

Repetto GM, Puga AR, Delgado I. Repetto GM, et al. Biol Res. 2007;40(2):223-9. doi: 10.4067/s0716-97602007000200013. Epub 2007 Nov 21. Biol Res. 2007. PMID: 18064359 Free article.

4

Clinical features of chromosome 22q11.2 microdeletion syndrome in 208 Chilean patients.

Repetto GM, Guzmán ML, Puga A, Calderón JF, Astete CP, Aracena M, Arriaza M, Aravena T, Sanz P. Repetto GM, et al. Clin Genet. 2009 Nov;76(5):465-70. doi: 10.1111/j.1399-0004.2009.01234.x. Epub 2009 Sep 8. Clin Genet. 2009. PMID: 19737282

5

VEGFA polymorphisms and cardiovascular anomalies in 22q11 microdeletion syndrome: a case-control and family-based study.

Calderón JF, Puga AR, Guzmán ML, Astete CP, Arriaza M, Aracena M, Aravena T, Sanz P, Repetto GM. Calderón JF, et al. Among authors: repetto gm. Biol Res. 2009;42(4):461-8. Epub 2010 Jan 29. Biol Res. 2009. PMID: 20140301 Free article.

6

Cystic fibrosis in Chilean patients: Analysis of 36 common CFTR gene mutations.

Lay-Son G, Puga A, Astudillo P, Repetto GM; Collaborative Group of the Chilean National Cystic Fibrosis Program. Lay-Son G, et al. Among authors: repetto gm. J Cyst Fibros. 2011 Jan;10(1):66-70. doi: 10.1016/j.jcf.2010.10.002. Epub 2010 Oct 30. J Cyst Fibros. 2011. PMID: 21036675 Free article.

7

Growth in Chilean infants with chromosome 22q11 microdeletion syndrome.

Guzman ML, Delgado I, Lay-Son G, Willans E, Puga A, Repetto GM. Guzman ML, et al. Among authors: repetto gm. Am J Med Genet A. 2012 Nov;158A(11):2682-6. doi: 10.1002/ajmg.a.35525. Epub 2012 Aug 6. Am J Med Genet A. 2012. PMID: 22887857

8

Palate abnormalities in Chilean patients with chromosome 22q11 microdeletion syndrome.

Lay-Son G, Palomares M, Guzman ML, Vasquez M, Puga A, Repetto GM. Lay-Son G, et al. Among authors: repetto gm. Int J Pediatr Otorhinolaryngol. 2012 Dec;76(12):1726-8. doi: 10.1016/j.ijporl.2012.08.010. Epub 2012 Aug 29. Int J Pediatr Otorhinolaryngol. 2012. PMID: 22939891

9

[Comparative performance of symptoms questionnaire, hydrogen test and genetic test for lactose intolerance].

Rollán A, Vial C, Quesada S, Espinoza K, Hatton M, Puga A, Repetto G. Rollán A, et al. Rev Med Chil. 2012 Sep;140(9):1101-8. doi: 10.4067/S0034-98872012000900001. Rev Med Chil. 2012. PMID: 23354630 Free article. Spanish.

10

Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies.

Lay-Son G, Espinoza K, Vial C, Rivera JC, Guzmán ML, Repetto GM. Lay-Son G, et al. Among authors: repetto gm. J Pediatr (Rio J). 2015 Mar-Apr;91(2):189-95. doi: 10.1016/j.jped.2014.07.003. Epub 2014 Oct 30. J Pediatr (Rio J). 2015. PMID: 25458876 Free article.

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