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

por Estivill, Xavier, Armengol, Lluís
Publicado 2007

ProSeeK: A web server for MLPA probe design

por Pantano, Lorena, Armengol, Lluís, Villatoro, Sergi, Estivill, Xavier
Publicado 2008

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

por Cáceres, Alejandro, Armengol, Lluís, Villatoro, Sergi, González, Juan R
Publicado 2011

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

por Bosch, Nina, Morell, Marta, Ponsa, Immaculada, Mercader, Josep Maria, Armengol, Lluís, Estivill, Xavier
Publicado 2009

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

por Bosch, Nina, Morell, Marta, Ponsa, Immaculada, Mercader, Josep Maria, Armengol, Lluís, Estivill, Xavier
Publicado 2010

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

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

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

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

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

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

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

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

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

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

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

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

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

por Canut, María I., Villa, Olaya, Kudsieh, Bachar, Mattlin, Heidi, Banchs, Isabel, González, Juan R., Armengol, Lluís, Casaroli-Marano, Ricardo P.
Publicado 2021

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

por Canut, María I., Villa, Olaya, Kudsieh, Bachar, Mattlin, Heidi, Banchs, Isabel, González, Juan R., Armengol, Lluís, Casaroli‑Marano, Ricardo P.
Publicado 2021

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

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

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

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

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

por 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.
Publicado 2020

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

por 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
Publicado 2018

Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel PPP2R1A Variant and Its Unreported Phenotype

por Roldán, Mònica, Nolasco, Gregorio Alexander, Armengol, Lluís, Frías, Marcos, Morell, Marta, García-Aragonés, Manel, Epifani, Florencia, Muchart, Jordi, Ramírez-Almaraz, María Luisa, Martorell, Loreto, Hernando-Davalillo, Cristina, Urreizti, Roser, Serrano, Mercedes
Publicado 2023

Oligonucleotide Arrays vs. Metaphase-Comparative Genomic Hybridisation and BAC Arrays for Single-Cell Analysis: First Applications to Preimplantation Genetic Diagnosis for Robertso...

por Ramos, Laia, del Rey, Javier, Daina, Gemma, García-Aragonés, Manel, Armengol, Lluís, Fernandez-Encinas, Alba, Parriego, Mònica, Boada, Montserrat, Martinez-Passarell, Olga, Martorell, Maria Rosa, Casagran, Oriol, Benet, Jordi, Navarro, Joaquima
Publicado 2014

Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis

por Armengol, Lluís, Nevado, Julián, Serra-Juhé, Clara, Plaja, Alberto, Mediano, Carmen, García-Santiago, Fe Amalia, García-Aragonés, Manel, Villa, Olaya, Mansilla, Elena, Preciado, Cristina, Fernández, Luis, Mori, María Ángeles, García-Pérez, Lidia, Lapunzina, Pablo Daniel, Pérez-Jurado, Luis Alberto
Publicado 2011