Bafalliu JA - Search Results

1

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. Among authors: bafalliu ja. 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

2

Intrachromosomal partial triplication of chromosome 13 secondary to a paternal duplication with mild phenotypic effect.

López-Expósito I, Bafalliu JA, Santos M, Fuster C, Puche-Mira A, Guillén-Navarro E. López-Expósito I, et al. Among authors: bafalliu ja. Am J Med Genet A. 2008 May 1;146A(9):1190-4. doi: 10.1002/ajmg.a.32187. Am J Med Genet A. 2008. PMID: 18386805

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. Among authors: bafalliu ja. 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. Among authors: bafalliu ja. 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: bafalliu ja. 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. Among authors: bafalliu ja. 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

Duplication 19q13-qter and deletion 19p13-pter arising from an inversion (19)(p13.3q13.3) of maternal origin.

López-Exposito I, Guillén-Navarro E, Bafallíu JA, Bernabé MC, Escalona A, Fuster C. López-Exposito I, et al. Among authors: bafalliu ja. Eur J Med Genet. 2006 Nov-Dec;49(6):511-5. doi: 10.1016/j.ejmg.2006.05.002. Epub 2006 Jun 23. Eur J Med Genet. 2006. PMID: 16824814

8

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. Among authors: bafalliu ja. Gene. 2012 Apr 15;497(2):292-7. doi: 10.1016/j.gene.2012.01.088. Epub 2012 Feb 9. Gene. 2012. PMID: 22342398

9

Prenatal diagnosis of de novo deletions of 8p23.1 or 15q26.1 in two fetuses with diaphragmatic hernia and congenital heart defects.

López I, Bafalliu JA, Bernabé MC, García F, Costa M, Guillén-Navarro E. López I, et al. Among authors: bafalliu ja. Prenat Diagn. 2006 Jun;26(6):577-80. doi: 10.1002/pd.1468. Prenat Diagn. 2006. PMID: 16700088

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

9 results

Search Page

Filters