Search Page
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
Search Results
7 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
Sotos Syndrome and Nephrocalcinosis, a Rare But Possible Association due to Impact on Contiguous Genes.
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.
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
Item in Clipboard
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
Item in Clipboard
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.
Item in Clipboard
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
Item in Clipboard
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.
Item in Clipboard
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
Item in Clipboard
Cite
Cite