Plaja A - Search Results

1

LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy.

Soler-Palacín P, Garcia-Prat M, Martín-Nalda A, Franco-Jarava C, Rivière JG, Plaja A, Bezdan D, Bosio M, Martínez-Gallo M, Ossowski S, Colobran R. Soler-Palacín P, et al. Among authors: plaja a. Front Immunol. 2018 Oct 16;9:2397. doi: 10.3389/fimmu.2018.02397. eCollection 2018. Front Immunol. 2018. PMID: 30386343 Free PMC article.

2

TNFAIP3 haploinsufficiency is the cause of autoinflammatory manifestations in a patient with a deletion of 13Mb on chromosome 6.

Franco-Jarava C, Wang H, Martin-Nalda A, Alvarez SD, García-Prat M, Bodet D, García-Patos V, Plaja A, Rudilla F, Rodriguez-Sureda V, García-Latorre L, Aksentijevich I, Colobran R, Soler-Palacín P. Franco-Jarava C, et al. Among authors: plaja a. Clin Immunol. 2018 Jun;191:44-51. doi: 10.1016/j.clim.2018.03.009. Epub 2018 Mar 20. Clin Immunol. 2018. PMID: 29572183

3

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

4

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

5

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

6

Low levels of microsatellite instability characterize MLH1 and MSH2 HNPCC carriers before tumor diagnosis.

Alazzouzi H, Domingo E, González S, Blanco I, Armengol M, Espín E, Plaja A, Schwartz S, Capella G, Schwartz S Jr. Alazzouzi H, et al. Among authors: plaja a. Hum Mol Genet. 2005 Jan 15;14(2):235-9. doi: 10.1093/hmg/ddi021. Epub 2004 Nov 24. Hum Mol Genet. 2005. PMID: 15563510

7

Supernumerary ring chromosome: an etiology for Pallister-Killian syndrome?

Lloveras E, Canellas A, Cirigliano V, Català V, Cerdan C, Plaja A. Lloveras E, et al. Among authors: plaja a. Fetal Diagn Ther. 2013;34(3):172-5. doi: 10.1159/000347049. Epub 2013 Mar 6. Fetal Diagn Ther. 2013. PMID: 23485930

8

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

9

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.

10

Characterization of a heritable partial monosomy 18p by molecular and cytogenetic analysis.

Rigola MA, Plaja A, Mediano C, Miró R, Egozcue J, Fuster C. Rigola MA, et al. Among authors: plaja a. Am J Med Genet. 2001 Nov 15;104(1):37-41. doi: 10.1002/ajmg.1584. Am J Med Genet. 2001. PMID: 11746025

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