Mellado C - Search Results

1

A Deletion of More than 800 kb Is the Most Recurrent Mutation in Chilean Patients with SHOX Gene Defects.

Poggi H, Vera A, Avalos C, Lagos M, Mellado C, Aracena M, Aravena T, Garcia H, Godoy C, Cattani A, Reyes L, Lacourt P, Rumie H, Mericq V, Arriaza M, Martinez-Aguayo A. Poggi H, et al. Among authors: mellado c. Horm Res Paediatr. 2015;84(4):254-7. doi: 10.1159/000439109. Epub 2015 Sep 3. Horm Res Paediatr. 2015. PMID: 26337568

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. Among authors: mellado c. Rev Med Chil. 2001 May;129(5):515-21. Rev Med Chil. 2001. PMID: 11464533 Spanish.

3

[Basic concepts about paternity testing].

Lagos M, Poggi H, Mellado C. Lagos M, et al. Among authors: mellado c. Rev Med Chil. 2011 Apr;139(4):542-7. Epub 2011 Aug 25. Rev Med Chil. 2011. PMID: 21879196 Free article. Spanish.

4

A new presentation of the chimeric CYP11B1/CYP11B2 gene with low prevalence of primary aldosteronism and atypical gene segregation pattern.

Carvajal CA, Campino C, Martinez-Aguayo A, Tichauer JE, Bancalari R, Valdivia C, Trejo P, Aglony M, Baudrand R, Lagos CF, Mellado C, Garcia H, Fardella CE. Carvajal CA, et al. Among authors: mellado c. Hypertension. 2012 Jan;59(1):85-91. doi: 10.1161/HYPERTENSIONAHA.111.180513. Epub 2011 Nov 14. Hypertension. 2012. PMID: 22083159

5

Dandy-Walker malformation with postaxial polydactly: a new case of Pierquin syndrome.

Passalacqua CA, Villegas VP, Aracena MI, Mellado CX. Passalacqua CA, et al. Clin Dysmorphol. 2013 Apr;22(2):51-53. doi: 10.1097/MCD.0b013e32835cfb73. Clin Dysmorphol. 2013. PMID: 23324646

6

[Congenital anomalies of poor prognosis. Genetics Consensus Committee].

Pardo Vargas RA, Aracena M, Aravena T, Cares C, Cortés F, Faundes V, Mellado C, Passalacqua C, Sanz P, Castillo Taucher S. Pardo Vargas RA, et al. Among authors: mellado c. Rev Chil Pediatr. 2016 Sep-Oct;87(5):422-431. doi: 10.1016/j.rchipe.2016.04.005. Epub 2016 May 24. Rev Chil Pediatr. 2016. PMID: 27234469 Free article. Spanish.

7

Short stature and hypothyroidism in a child with Nail-Patella Syndrome. A case report.

Goecke C, Mellado C, García C, García H. Goecke C, et al. Among authors: mellado c. Rev Chil Pediatr. 2018 Feb;89(1):107-112. doi: 10.4067/S0370-41062018000100107. Rev Chil Pediatr. 2018. PMID: 29664512 Free article. English, Spanish.

8

Identification of c.1531C>T Pathogenic Variant in the CDH1 Gene as a Novel Germline Mutation of Hereditary Diffuse Gastric Cancer.

Norero E, Alarcon MA, Hakkaart C, de Mayo T, Mellado C, Garrido M, Aguayo G, Lagos M, Torres J, Calvo A, Guilford P, Corvalan AH. Norero E, et al. Among authors: mellado c. Int J Mol Sci. 2019 Oct 9;20(20):4980. doi: 10.3390/ijms20204980. Int J Mol Sci. 2019. PMID: 31600923 Free PMC article.

9

Long-term remission of infantile Takayasu arteritis associated with germline CBL syndrome after allogeneic hematopoietic stem cell transplantation: A case report and literature review.

Munoz-Osores E, Piñones M, Barriga F, Wietstruck MA, Pérez-Mateluna G, Mellado C, Aracena M, Parra R, García C, Borzutzky A. Munoz-Osores E, et al. Among authors: mellado c. Transpl Immunol. 2024 Apr;83:102013. doi: 10.1016/j.trim.2024.102013. Epub 2024 Feb 22. Transpl Immunol. 2024. PMID: 38395087 Review.

10

[Prevalence of neurological disorders among children with Down syndrome].

Gaete B, Mellado C, Hernández M. Gaete B, et al. Among authors: mellado c. Rev Med Chil. 2012 Feb;140(2):214-8. doi: 10.4067/S0034-98872012000200010. Rev Med Chil. 2012. PMID: 22739951 Free article. Spanish.

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