Obregón MG - Search Results

1

[Clinical, radiological and auxologic long-term evolution of 8 children with asphyxiating thoracic dysplasia].

Ramos Mejía R, del Pino M, Obregón MG, Fano V. Ramos Mejía R, et al. Among authors: obregon mg. Arch Argent Pediatr. 2015 Dec 1;113(6):e357-62. doi: 10.5546/aap.2015.e357. Arch Argent Pediatr. 2015. PMID: 26593817 Free article. Spanish.

2

[Osteogenesis imperfecta. Clinical, functional and multidisciplinary evaluation of 65 patients].

Fano V, Rodríguez Celin M, Del Pino M, Buceta S, Obregón MG, Primomo C, García H, Miscione H, Lejarraga H. Fano V, et al. Among authors: obregon mg. An Pediatr (Barc). 2010 May;72(5):324-30. doi: 10.1016/j.anpedi.2009.12.022. Epub 2010 Apr 7. An Pediatr (Barc). 2010. PMID: 20378435 Free article. Spanish.

3

[Tarsal-carpal coalition syndrome: a familial case].

Caino S, Dello Ruso B, Fano V, Obregón MG. Caino S, et al. Among authors: obregon mg. An Pediatr (Barc). 2012 Jun;76(6):355-9. doi: 10.1016/j.anpedi.2011.12.004. Epub 2012 Feb 9. An Pediatr (Barc). 2012. PMID: 22326510 Free article. Spanish.

4

[Osteogenesis imperfecta: quality of life in children].

Fano V, del Pino M, Rodríguez Celin M, Buceta S, Obregón MG. Fano V, et al. Among authors: obregon mg. Arch Argent Pediatr. 2013 Jul-Aug;111(4):328-31. doi: 10.5546/aap.2013.328. Arch Argent Pediatr. 2013. PMID: 23912291 Free article. Spanish.

5

Homozygous N540K hypochondroplasia--first report: radiological and clinical features.

De Rosa ML, Fano V, Araoz HV, Chertkoff L, Obregon MG. De Rosa ML, et al. Among authors: obregon mg. Am J Med Genet A. 2014 Jul;164A(7):1784-8. doi: 10.1002/ajmg.a.36504. Epub 2014 Apr 8. Am J Med Genet A. 2014. PMID: 24715719

6

Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum.

Moosa S, Obregon MG, Altmüller J, Thiele H, Nürnberg P, Fano V, Wollnik B. Moosa S, et al. Among authors: obregon mg. Am J Med Genet A. 2016 May;170A(5):1295-301. doi: 10.1002/ajmg.a.37570. Epub 2016 Jan 21. Am J Med Genet A. 2016. PMID: 26792575

7

A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival.

Moosa S, Fano V, Obregon MG, Altmüller J, Thiele H, Nürnberg P, Nishimura G, Wollnik B. Moosa S, et al. Among authors: obregon mg. Am J Med Genet A. 2016 Sep;170(9):2436-9. doi: 10.1002/ajmg.a.37823. Epub 2016 Jun 29. Am J Med Genet A. 2016. PMID: 27354339 No abstract available.

8

SHOX Deficiency in Argentinean Cohort: Long-Term Auxological Follow-Up and a Family's New Mutation.

Del Pino M, Aza-Carmona M, Medino-Martín D, Gomez A, Heath KE, Fano V, Obregon MG. Del Pino M, et al. Among authors: obregon mg. J Pediatr Genet. 2019 Sep;8(3):123-132. doi: 10.1055/s-0039-1691788. Epub 2019 May 28. J Pediatr Genet. 2019. PMID: 31406617 Free PMC article.

9

Clinical and molecular characterization of children with Noonan syndrome and other RASopathies in Argentina.

Chinton J, Huckstadt V, Moresco A, Gravina LP, Obregon MG. Chinton J, et al. Among authors: obregon mg. Arch Argent Pediatr. 2019 Oct 1;117(5):330-337. doi: 10.5546/aap.2019.eng.330. Arch Argent Pediatr. 2019. PMID: 31560489 Free article. English, Spanish.

10

Clinical and Radiologic Evaluation of an Individual with Hypochondroplasia and a Novel FGFR3 Mutation.

Ramos Mejía R, Aza-Carmona M, Del Pino M, Heath KE, Fano V, Obregon MG. Ramos Mejía R, et al. Among authors: obregon mg. J Pediatr Genet. 2020 Mar;9(1):48-52. doi: 10.1055/s-0039-1695056. Epub 2019 Sep 2. J Pediatr Genet. 2020. PMID: 31976144 Free PMC article.

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