Plaja A - Search Results

1

A Novel Recurrent Breakpoint Responsible for Rearrangements in the Williams-Beuren Region.

Plaja A, Castells N, Cueto-González AM, del Campo M, Vendrell T, Lloveras E, Izquierdo L, Borregan M, Rodríguez-Santiago B, Carrió A, Miró R, Tizzano E. Plaja A, et al. Cytogenet Genome Res. 2015;146(3):181-6. doi: 10.1159/000439463. Epub 2015 Sep 18. Cytogenet Genome Res. 2015. PMID: 26382598

2

Intrachromosomal 3p insertion as a cause of reciprocal pure interstitial deletion and duplication in two siblings: further delineation of the emerging proximal 3p deletion syndrome.

Lloveras E, Vendrell T, Fernández A, Castells N, Cueto A, del Campo M, Hernando C, Villa O, Plaja A. Lloveras E, et al. Among authors: plaja a. Cytogenet Genome Res. 2014;144(4):290-3. doi: 10.1159/000375184. Epub 2015 Feb 14. Cytogenet Genome Res. 2014. PMID: 25720458

3

Three-Year Follow-Up of a Prenatally Ascertained Apparently Non-Mosaic sSMC(10): Delineation of a Non-Critical Region.

Barranco L, Costa M, Lloveras E, Ordóñez E, Maiz N, Hernando C, Villa O, Cirigliano V, Plaja A. Barranco L, et al. Among authors: plaja a. Cytogenet Genome Res. 2015;147(4):209-11. doi: 10.1159/000444600. Epub 2016 Mar 15. Cytogenet Genome Res. 2015. PMID: 26974471

4

[Comparative genomic hybridisation as a first option in genetic diagnosis: 1,000 cases and a cost-benefit analysis].

Castells-Sarret N, Cueto-González AM, Borregan M, López-Grondona F, Miró R, Tizzano E, Plaja A. Castells-Sarret N, et al. Among authors: plaja a. An Pediatr (Engl Ed). 2018 Jul;89(1):3-11. doi: 10.1016/j.anpedi.2017.07.011. Epub 2017 Sep 27. An Pediatr (Engl Ed). 2018. PMID: 28958749 Free article. Spanish.

5

Chromosomal microarray analysis in fetuses with central nervous system anomalies: An 8-year long observational study from a tertiary care university hospital.

Santirocco M, Plaja A, Rodó C, Valenzuela I, Arévalo S, Castells N, Abuli A, Tizzano E, Maiz N, Carreras E. Santirocco M, et al. Among authors: plaja a. Prenat Diagn. 2021 Jan;41(1):123-135. doi: 10.1002/pd.5829. Epub 2020 Sep 30. Prenat Diagn. 2021. PMID: 32926442

6

Genomic Chaos (Multiple Copy Number Variations and Structural Reorganization) Detected in Two Prenatal Cases.

Lloveras E, Canellas A, Plaja A, Barranco L, Fernández D, Mendez B, Piqué M, de la Iglesia C, Palau N, Costa M, Herrero M, Yeste D, Auge M, Puig L, Pérez C. Lloveras E, et al. Among authors: plaja a. Cytogenet Genome Res. 2021;161(5):236-242. doi: 10.1159/000515653. Epub 2021 Jul 16. Cytogenet Genome Res. 2021. PMID: 34274931

7

Molecular characterization of Spanish patients with MECP2 duplication syndrome.

Pascual-Alonso A, Blasco L, Vidal S, Gean E, Rubio P, O'Callaghan M, Martínez-Monseny AF, Castells AA, Xiol C, Català V, Brandi N, Pacheco P, Ros C, Del Campo M, Guillén E, Ibañez S, Sánchez MJ, Lapunzina P, Nevado J, Santos F, Lloveras E, Ortigoza-Escobar JD, Tejada MI, Maortua H, Martínez F, Orellana C, Roselló M, Mesas MA, Obón M, Plaja A, Fernández-Ramos JA, Tizzano E, Marín R, Peña-Segura JL, Alcántara S, Armstrong J. Pascual-Alonso A, et al. Among authors: plaja a. Clin Genet. 2020 Apr;97(4):610-620. doi: 10.1111/cge.13718. Epub 2020 Feb 23. Clin Genet. 2020. PMID: 32043567

8

Trisomy 18p caused by a supernumerary marker with a chromosome 13/21 centromere: a possible recurrent chromosome aberration.

Plaja A, Lloveras E, Martinez-Bouzas C, Barreña B, Del Campo M, Fernández A, Herrero M, Barranco L, Palau N, López-Aríztegui MA, Català V, Tejada MI. Plaja A, et al. Am J Med Genet A. 2013 Sep;161A(9):2363-8. doi: 10.1002/ajmg.a.36102. Epub 2013 Jul 25. Am J Med Genet A. 2013. PMID: 23894094

9

Further delineation of the SOX18-related Hypotrichosis, Lymphedema, Telangiectasia syndrome (HTLS).

Valenzuela I, Fernández-Alvarez P, Plaja A, Ariceta G, Sabaté-Rotés A, García-Arumí E, Vendrell T, Tizzano E. Valenzuela I, et al. Among authors: plaja a. Eur J Med Genet. 2018 May;61(5):269-272. doi: 10.1016/j.ejmg.2018.01.001. Epub 2018 Jan 4. Eur J Med Genet. 2018. PMID: 29307792

10

A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome.

Lucia-Campos C, Valenzuela I, Latorre-Pellicer A, Ros-Pardo D, Gil-Salvador M, Arnedo M, Puisac B, Castells N, Plaja A, Tenes A, Cuscó I, Trujillano L, Ramos FJ, Tizzano EF, Gómez-Puertas P, Pié J. Lucia-Campos C, et al. Among authors: plaja a. Genes (Basel). 2022 Aug 8;13(8):1413. doi: 10.3390/genes13081413. Genes (Basel). 2022. PMID: 36011323 Free PMC article.

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