Publications by authors named "Alberto Plaja"

Claim this Profile
C
Case Report: Androgenetic/biparental chimera with two biparental cell lines leading to placental mesenchymal dysplasia: a possible novel mechanism of formation.
Mar Xunclà, María Ángeles Sánchez-Durán, Natàlia Rey, María Serrano, Pedro Antonio Martínez, Alberto Plaja

Hum Reprod· May 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Incidental Findings Identified by Prenatal Microarray Analysis and Consensus Reporting Criteria of the Catalan Public Health Network XIGENICS.
Irene Mademont-Soler, Neus Castells-Sarret, Adela Cisneros, Laura Foj, Clara Benavent-Bofill, Alberto Plaja

Prenat Diagn· March 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Performance of Massive Parallel Sequencing-Based Cell-Free DNA Testing in Compromised Pregnancies.
Maria Antolin, Guillermo Tarrasó, María Ángeles Sánchez, Alberto Plaja, Desiree Martínez-Cruz

J Clin Med· July 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
Z
ZDHHC15 as a candidate gene for autism spectrum disorder.
Dolors Casellas-Vidal, Irene Mademont-Soler, Joana Sánchez, Alberto Plaja, Neus Castells

Am J Med Genet A· April 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
1
16q12.2q21 deletion: A newly recognized cause of dystonia related to GNAO1 haploinsufficiency.
Amaia Lasa-Aranzasti, Ana Cazurro-Gutiérrez, Agustín Bescós, Victoria González, Lourdes Ispierto, Alberto Plaja

Parkinsonism Relat Disord· October 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A Novel Intragenic Duplication in the Gene Underlying a Case of Cornelia de Lange Syndrome.
Cristina Lucia-Campos, Irene Valenzuela, Ana Latorre-Pellicer, David Ros-Pardo, Marta Gil-Salvador, Alberto Plaja

Genes (Basel)· August 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genomic Chaos (Multiple Copy Number Variations and Structural Reorganization) Detected in Two Prenatal Cases.
Elisabet Lloveras, Anna Canellas, Alberto Plaja, Laura Barranco, Daniel Fernández

Cytogenet Genome Res· September 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Chromosomal microarray analysis in fetuses with central nervous system anomalies: An 8-year long observational study from a tertiary care university hospital.
Maddalena Santirocco, Alberto Plaja, Carlota Rodó, Irene Valenzuela, Silvia Arévalo

Prenat Diagn· January 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Molecular characterization of Spanish patients with MECP2 duplication syndrome.
Ainhoa Pascual-Alonso, Laura Blasco, Silvia Vidal, Esther Gean, Patricia Rubio, Alberto Plaja

Clin Genet· April 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy.
Pere Soler-Palacín, Marina Garcia-Prat, Andrea Martín-Nalda, Clara Franco-Jarava, Jacques G Rivière, Alberto Plaja

Front Immunol· October 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Novel Double Factor PGT strategy analyzing blastocyst stage embryos in a single NGS procedure.
Javier Del Rey, Francisco Vidal, Lorena Ramírez, Nina Borràs, Irene Corrales, Alberto Plaja

PLoS One· April 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
[
[Comparative genomic hybridisation as a first option in genetic diagnosis: 1,000 cases and a cost-benefit analysis].
Neus Castells-Sarret, Anna M Cueto-González, Mar Borregan, Fermina López-Grondona, Rosa Miró, Alberto Plaja

An Pediatr (Engl Ed)· July 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
TNFAIP3 haploinsufficiency is the cause of autoinflammatory manifestations in a patient with a deletion of 13Mb on chromosome 6.
Clara Franco-Jarava, Hongying Wang, Andrea Martin-Nalda, de la Sierra Daniel Alvarez, Marina García-Prat, Alberto Plaja

Clin Immunol· June 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
Further delineation of the SOX18-related Hypotrichosis, Lymphedema, Telangiectasia syndrome (HTLS).
Irene Valenzuela, Paula Fernández-Alvarez, Alberto Plaja, Gema Ariceta, Anna Sabaté-Rotés

Eur J Med Genet· May 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
Three-Year Follow-Up of a Prenatally Ascertained Apparently Non-Mosaic sSMC(10): Delineation of a Non-Critical Region.
Laura Barranco, Marta Costa, Elisabet Lloveras, Elena Ordóñez, Nerea Maiz, Alberto Plaja

Cytogenet Genome Res· February 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A Novel Recurrent Breakpoint Responsible for Rearrangements in the Williams-Beuren Region.
Alberto Plaja, Neus Castells, Anna M Cueto-González, Miguel del Campo, Teresa Vendrell

Cytogenet Genome Res· January 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.
Julián Nevado, Jill A Rosenfeld, Rocío Mena, María Palomares-Bralo, Elena Vallespín, Alberto Plaja

Eur J Hum Genet· December 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
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.
Elisabet Lloveras, Teresa Vendrell, Asunción Fernández, Neus Castells, Ana Cueto, Alberto Plaja

Cytogenet Genome Res· June 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
Trisomy 18p caused by a supernumerary marker with a chromosome 13/21 centromere: a possible recurrent chromosome aberration.
Alberto Plaja, Elisabet Lloveras, Cristina Martinez-Bouzas, Beatriz Barreña, Miguel Del Campo

Am J Med Genet A· September 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
De novo MECP2 disomy in a Mexican male carrying a supernumerary marker chromosome and no typical Lubs syndrome features.
Vivian Alejandra Neira, Pavel Romero-Espinoza, Augusto Rojas-Martínez, Rocío Ortiz-López, Carlos Córdova-Fletes, Alberto Plaja

Gene· July 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis.
Lluís Armengol, Julián Nevado, Clara Serra-Juhé, Alberto Plaja, Carmen Mediano

Hum Genet· March 2012

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Assessment of QF-PCR as the first approach in prenatal diagnosis.
Celia Badenas, Laia Rodríguez-Revenga, Carme Morales, Carmen Mediano, Alberto Plaja

J Mol Diagn· November 2010

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Comparative genomic hybridization analysis reveals new different subgroups in early-stage bladder tumors.
Esther Prat, Javier del Rey, Immaculada Ponsa, Marga Nadal, Jordi Camps, Alberto Plaja

Urology· February 2010

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Ectopic nucleolus organizer regions in a patient with premature ovarian failure.
Elisabet Lloveras, Lurdes Zamora, Cristina Pérez, Carme Fuster, Sandra Andreu, Alberto Plaja

Fertil Steril· October 2006

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Rapid prenatal diagnosis by QF-PCR: evaluation of 30,000 consecutive clinical samples and future applications.
Vincenzo Cirigliano, Gianfranco Voglino, Antonella Marongiu, Paz Cañadas, Elena Ordoñez, Alberto Plaja

Ann N Y Acad Sci· September 2006

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis