Vera-Carbonell A - Search Results

1

Rapp-Hodgkin syndrome and SHFM1 patients: delineating the p63-Dlx5/Dlx6 pathway.

Vera-Carbonell A, Moya-Quiles MR, Ballesta-Martínez M, López-González V, Bafallíu JA, Guillén-Navarro E, López-Expósito I. Vera-Carbonell A, et al. Gene. 2012 Apr 15;497(2):292-7. doi: 10.1016/j.gene.2012.01.088. Epub 2012 Feb 9. Gene. 2012. PMID: 22342398

2

Characterization of a de novo complex chromosomal rearrangement in a patient with cri-du-chat and trisomy 5p syndromes.

Vera-Carbonell A, Bafalliu JA, Guillén-Navarro E, Escalona A, Ballesta-Martínez MJ, Fuster C, Fernández A, López-Expósito I. Vera-Carbonell A, et al. Am J Med Genet A. 2009 Nov;149A(11):2513-21. doi: 10.1002/ajmg.a.33055. Am J Med Genet A. 2009. PMID: 19842199

3

Molecular characterization of a new patient with a non-recurrent inv dup del 2q and review of the mechanisms for this rearrangement.

Vera-Carbonell A, López-Expósito I, Bafalliu JA, Ballesta-Martínez M, Glóver G, Llópis C, Moya-Quiles R, Suela J, Fernández A, Guillén-Navarro E. Vera-Carbonell A, et al. Am J Med Genet A. 2010 Oct;152A(10):2670-80. doi: 10.1002/ajmg.a.33613. Am J Med Genet A. 2010. PMID: 20799321 Review.

4

Pre- and postnatal findings in a patient with a novel rec(8)dup(8q)inv(8)(p23.2q22.3) associated with San Luis Valley syndrome.

Vera-Carbonell A, López-González V, Bafalliu JA, Piñero-Fernández J, Susmozas J, Sorli M, López-Pérez R, Fernández A, Guillén-Navarro E, López-Expósito I. Vera-Carbonell A, et al. Am J Med Genet A. 2013 Sep;161A(9):2369-75. doi: 10.1002/ajmg.a.36103. Epub 2013 Jul 25. Am J Med Genet A. 2013. PMID: 23894102

5

Array CGH detection of a novel cryptic deletion at 3q13 in a complex chromosome rearrangement.

López-Expósito I, Ballesta-Martinez MJ, Bafalliu JA, Vera-Carbonell A, Domingo-Jiménez R, López-González V, Fernández A, Guillén-Navarro E. López-Expósito I, et al. Among authors: vera carbonell a. Genomics. 2014 Apr;103(4):288-91. doi: 10.1016/j.ygeno.2014.02.008. Epub 2014 Mar 4. Genomics. 2014. PMID: 24607569 Free article.

6

Clinical comparison of 10q26 overlapping deletions: delineating the critical region for urogenital anomalies.

Vera-Carbonell A, López-González V, Bafalliu JA, Ballesta-Martínez MJ, Fernández A, Guillén-Navarro E, López-Expósito I. Vera-Carbonell A, et al. Am J Med Genet A. 2015 Apr;167A(4):786-90. doi: 10.1002/ajmg.a.36949. Epub 2015 Feb 5. Am J Med Genet A. 2015. PMID: 25655674

7

Sotos Syndrome and Nephrocalcinosis, a Rare But Possible Association due to Impact on Contiguous Genes.

González-Rodríguez JD, Inglés-Torres EQ, Cabrera-Sevilla JE, Ibáñez-Micó S, Bermejo-Costa F, Vera-Carbonell A, Bafalliu-Vidal JA, Cortés-Mora P, Lorente-Nicolás A, Donate-Legaz JM. González-Rodríguez JD, et al. Among authors: vera carbonell a. J Clin Res Pediatr Endocrinol. 2023 Aug 10. doi: 10.4274/jcrpe.galenos.2023.2023-3-11. Online ahead of print. J Clin Res Pediatr Endocrinol. 2023. PMID: 37559368 Free article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

7 results

Search Page

Filters