Copy Number Variants and Common Disorders: Filling the Gaps and Exploring Complexity in Genome-Wide Association Studies

gan Estivill, Xavier, Armengol, Lluís
Cyhoeddwyd 2007

ProSeeK: A web server for MLPA probe design

gan Pantano, Lorena, Armengol, Lluís, Villatoro, Sergi, Estivill, Xavier
Cyhoeddwyd 2008

<monospace>MLPAstats</monospace>: An <monospace>R</monospace> GUI package for the integrated analysis of copy number alterations using MLPA data

gan Villatoro Sergi, Armengol Lluís, Cáceres Alejandro, González Juan R
Cyhoeddwyd 2011-05-01

MLPAstats: An R GUI package for the integrated analysis of copy number alterations using MLPA data

gan Cáceres, Alejandro, Armengol, Lluís, Villatoro, Sergi, González, Juan R
Cyhoeddwyd 2011

Nucleotide, Cytogenetic and Expression Impact of the Human Chromosome 8p23.1 Inversion Polymorphism

gan Bosch, Nina, Morell, Marta, Ponsa, Immaculada, Mercader, Josep Maria, Armengol, Lluís, Estivill, Xavier
Cyhoeddwyd 2009

Correction: Nucleotide, Cytogenetic and Expression Impact of the Human Chromosome 8p23.1 Inversion Polymorphism

gan Bosch, Nina, Morell, Marta, Ponsa, Immaculada, Mercader, Josep Maria, Armengol, Lluís, Estivill, Xavier
Cyhoeddwyd 2010

Accounting for uncertainty when assessing association between copy number and disease: a latent class model

gan González, Juan R, Subirana, Isaac, Escaramís, Geòrgia, Peraza, Solymar, Cáceres, Alejandro, Estivill, Xavier, Armengol, Lluís
Cyhoeddwyd 2009

Probe-specific mixed-model approach to detect copy number differences using multiplex ligation-dependent probe amplification (MLPA)

gan Villatoro Sergi, Armengol Lluís, Carrasco Josep L, González Juan R, Jover Lluís, Yasui Yutaka, Estivill Xavier
Cyhoeddwyd 2008-06-01

Failure to detect the 22q11.2 duplication syndrome rearrangement among patients with schizophrenia

gan Brunet, Anna, Armengol, Lluís, Pelaez, Trini, Guillamat, Roser, Vallès, Vicenç, Gabau, Elisabeth, Estivill, Xavier, Guitart, Miriam
Cyhoeddwyd 2008

Probe-specific mixed-model approach to detect copy number differences using multiplex ligation-dependent probe amplification (MLPA)

gan González, Juan R, Carrasco, Josep L, Armengol, Lluís, Villatoro, Sergi, Jover, Lluís, Yasui, Yutaka, Estivill, Xavier
Cyhoeddwyd 2008

BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1

gan Brunet, Anna, Armengol, Lluís, Heine, Damià, Rosell, Jordi, García-Aragonés, Manel, Gabau, Elisabeth, Estivill, Xavier, Guitart, Miriam
Cyhoeddwyd 2009

Worldwide population distribution of the common LCE3C-LCE3B deletion associated with psoriasis and other autoimmune disorders

gan Bassaganyas, Laia, Riveira-Muñoz, Eva, García-Aragonés, Manel, González, Juan R, Cáceres, Mario, Armengol, Lluís, Estivill, Xavier
Cyhoeddwyd 2013

Identification of Copy Number Variants Defining Genomic Differences among Major Human Groups

gan Armengol, Lluís, Villatoro, Sergi, González, Juan R., Pantano, Lorena, García-Aragonés, Manel, Rabionet, Raquel, Cáceres, Mario, Estivill, Xavier
Cyhoeddwyd 2009

MLIP genotype as a predictor of pharmacological response in primary open-angle glaucoma and ocular hypertension

gan Canut, María I., Villa, Olaya, Kudsieh, Bachar, Mattlin, Heidi, Banchs, Isabel, González, Juan R., Armengol, Lluís, Casaroli-Marano, Ricardo P.
Cyhoeddwyd yn Sci Rep (2021)

Publisher Correction: MLIP genotype as a predictor of pharmacological response in primary open-angle glaucoma and ocular hypertension

gan Canut, María I., Villa, Olaya, Kudsieh, Bachar, Mattlin, Heidi, Banchs, Isabel, González, Juan R., Armengol, Lluís, Casaroli‑Marano, Ricardo P.
Cyhoeddwyd yn Sci Rep (2021)

On the association between chromosomal rearrangements and genic evolution in humans and chimpanzees

gan Marques-Bonet, Tomàs, Sànchez-Ruiz, Jesús, Armengol, Lluís, Khaja, Razi, Bertranpetit, Jaume, Lopez-Bigas, Núria, Rocchi, Mariano, Gazave, Elodie, Navarro, Arcadi
Cyhoeddwyd 2007

A fast and accurate method to detect allelic genomic imbalances underlying mosaic rearrangements using SNP array data

gan González, Juan R, Rodríguez-Santiago, Benjamín, Cáceres, Alejandro, Pique-Regi, Roger, Rothman, Nathaniel, Chanock, Stephen J, Armengol, Lluís, Pérez-Jurado, Luis A
Cyhoeddwyd 2011

Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing

gan Trujillano, Daniel, Perez, Belén, González, Justo, Tornador, Cristian, Navarrete, Rosa, Escaramis, Georgia, Ossowski, Stephan, Armengol, Lluís, Cornejo, Verónica, Desviat, Lourdes R, Ugarte, Magdalena, Estivill, Xavier
Cyhoeddwyd 2014

VRK1 (Y213H) homozygous mutant impairs Cajal bodies in a hereditary case of distal motor neuropathy

gan Marcos, Ana T., Martín‐Doncel, Elena, Morejón‐García, Patricia, Marcos‐Alcalde, Iñigo, Gómez‐Puertas, Paulino, Segura‐Puimedon, María, Armengol, Lluis, Navarro‐Pando, José M., Lazo, Pedro A.
Cyhoeddwyd yn Ann Clin Transl Neurol (2020)

High Incidence of Copy Number Variants in Adults with Intellectual Disability and Co-morbid Psychiatric Disorders

gan Viñas-Jornet, Marina, Esteba-Castillo, Susanna, Baena, Neus, Ribas-Vidal, Núria, Ruiz, Anna, Torrents-Rodas, David, Gabau, Elisabeth, Vilella, Elisabet, Martorell, Lourdes, Armengol, Lluís, Novell, Ramon, Guitart, Míriam
Cyhoeddwyd yn Behav Genet (2018)