Search Results - "ARMENGOL, Lluis"

Copy number variants and common disorders: filling the gaps and exploring complexity in genome-wide association studies by Estivill, Xavier, Armengol, Lluís

“…Genome-wide association scans (GWASs) using single nucleotide polymorphisms (SNPs) have been completed successfully for several common disorders and have…”
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SNPassoc: an R package to perform whole genome association studies by González, Juan R., Armengol, Lluís, Solé, Xavier, Guinó, Elisabet, Mercader, Josep M., Estivill, Xavier, Moreno, Víctor

“…The popularization of large-scale genotyping projects has led to the widespread adoption of genetic association studies as the tool of choice in the search for…”
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Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis by Joosten, Irma, Abecasis, Gonçalo, Riveira-Munoz, Eva, Lázaro, Conxi, Armengol, Lluís, Elder, James T, Pujol, Ramón M, Escaramís, Georgia, Nair, Rajan, Kamsteeg, Marijke, Robarge, Jason, Eichler, Evan E, Schalkwijk, Joost, Zeeuwen, Patrick L J M, Estivill, Xavier, Novelli, Giuseppe, Bowcock, Anne, Martín-Ezquerra, Gemma, Heijer, Martin den, Dannhauser, Emma N, Giardina, Emiliano, Kwok, Pui-Yan, Stuart, Philip E, Helms, Cynthia, Liao, Wilson, Ballana, Ester, de Cid, Rafael, Armour, John A L

“…Psoriasis is a common inflammatory skin disease with a prevalence of 2-3% in individuals of European ancestry. In a genome-wide search for copy number variants…”
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NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine by Abulí, Anna, Boada, Montserrat, Rodríguez-Santiago, Benjamín, Coroleu, Buenaventura, Veiga, Anna, Armengol, Lluís, Barri, Pedro N., Pérez-Jurado, Luis A., Estivill, Xavier

“…ABSTRACT Next‐generation sequencing (NGS) has the capacity of carrier screening in gamete donation (GD) programs. We have developed and validated an NGS…”
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Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel PPP2R1A Variant and Its Unreported Phenotype by 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

“…The number of genes implicated in neurodevelopmental conditions is rapidly growing. Recently, variants in PPP2R1A have been associated with syndromic…”
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Uniparental disomies, homozygous deletions, amplifications, and target genes in mantle cell lymphoma revealed by integrative high-resolution whole-genome profiling by Beà, Sílvia, Salaverria, Itziar, Armengol, Lluís, Pinyol, Magda, Fernández, Verónica, Hartmann, Elena M., Jares, Pedro, Amador, Virginia, Hernández, Luís, Navarro, Alba, Ott, German, Rosenwald, Andreas, Estivill, Xavier, Campo, Elias

“…Mantle cell lymphoma (MCL) is genetically characterized by the t(11;14)(q13;q32) translocation and a high number of secondary chromosomal alterations. However,…”
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Mosaic Uniparental Disomies and Aneuploidies as Large Structural Variants of the Human Genome by Rodríguez-Santiago, Benjamín, Malats, Núria, Rothman, Nathaniel, Armengol, Lluís, Garcia-Closas, Montse, Kogevinas, Manolis, Villa, Olaya, Hutchinson, Amy, Earl, Julie, Marenne, Gaëlle, Jacobs, Kevin, Rico, Daniel, Tardón, Adonina, Carrato, Alfredo, Thomas, Gilles, Valencia, Alfonso, Silverman, Debra, Real, Francisco X., Chanock, Stephen J., Pérez-Jurado, Luis A.

“…Mosaicism is defined as the coexistence of cells with different genetic composition within an individual, caused by postzygotic somatic mutation. Although…”
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GCAT|Panel, a comprehensive structural variant haplotype map of the Iberian population from high-coverage whole-genome sequencing by Valls-Margarit, Jordi, Galván-Femenía, Iván, Matías-Sánchez, Daniel, Blay, Natalia, Puiggròs, Montserrat, Carreras, Anna, Salvoro, Cecilia, Cortés, Beatriz, Amela, Ramon, Farre, Xavier, Lerga-Jaso, Jon, Puig, Marta, Sánchez-Herrero, Jose Francisco, Moreno, Victor, Perucho, Manuel, Sumoy, Lauro, Armengol, Lluís, Delaneau, Olivier, Cáceres, Mario, de Cid, Rafael, Torrents, David

“…Abstract The combined analysis of haplotype panels with phenotype clinical cohorts is a common approach to explore the genetic architecture of human diseases…”
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High Incidence of Copy Number Variants in Adults with Intellectual Disability and Co-morbid Psychiatric Disorders by 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

“…A genetic analysis of unexplained mild-moderate intellectual disability and co-morbid psychiatric or behavioural disorders is not systematically conducted in…”
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Maximizing association statistics over genetic models by González, Juan R., Carrasco, Josep L., Dudbridge, Frank, Armengol, Lluís, Estivill, Xavier, Moreno, Victor

“…The assessment of the association between a candidate locus and a disease may require the assumption of an inheritance model. Most researchers select the…”
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Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis by 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

“…Novel methodologies for detection of chromosomal abnormalities have been made available in the recent years but their clinical utility in prenatal settings is…”
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Further delineation of the phenotype caused by loss of function mutations in PRMT7 by Valenzuela, Irene, Segura-Puimedon, Maria, Rodríguez-Santiago, Benjamín, Fernández-Alvarez, Paula, Vendrell, Teresa, Armengol, Lluís, Tizzano, Eduardo

“…PRMT7 encodes for an arginine methyltransferase that methylates arginine residues on various protein substrates and has been shown to play a role in various…”
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Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing by 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

“…Genetic diagnostics of phenylketonuria (PKU) and tetrahydrobiopterin (BH4) deficient hyperphenylalaninemia (BH4DH) rely on methods that scan for known…”
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Genomic complexity and IGHV mutational status are key predictors of outcome of chronic lymphocytic leukemia patients with TP53 disruption by Delgado, Julio, Salaverria, Itziar, Baumann, Tycho, Martínez-Trillos, Alejandra, Lee, Eriong, Jiménez, Laura, Navarro, Alba, Royo, Cristina, Santacruz, Rodrigo, López, Cristina, Payer, Angel R, Colado, Enrique, González, Marcos, Armengol, Lluís, Colomer, Dolors, Pinyol, Magda, Villamor, Neus, Aymerich, Marta, Carrió, Ana, Costa, Dolors, Clot, Guillem, Giné, Eva, López-Guillermo, Armando, Campo, Elías, Beà, Sílvia

“…The clinical course of chronic lymphocytic leukemia (CLL) is extremely heterogeneous and while some patients achieve a normal lifespan, others succumb to the…”
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Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients by Saus, Ester, Brunet, Anna, Armengol, Lluís, Alonso, Pino, Crespo, José M, Fernández-Aranda, Fernando, Guitart, Miriam, Martín-Santos, Rocío, Menchón, José Manuel, Navinés, Ricard, Soria, Virginia, Torrens, Marta, Urretavizcaya, Mikel, Vallès, Vicenç, Gratacòs, Mònica, Estivill, Xavier

“…Abstract Background Copy number variations (CNV) have become an important source of human genome variability noteworthy to consider when studying genetic…”
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Unexpected complexity in the molecular diagnosis of spastic paraplegia 11 by Mademont‐Soler, Irene, Esteba‐Castillo, Susanna, Jiménez‐Xifra, Aida, Alemany, Berta, Ribas‐Vidal, Núria, Cutillas, Maria, Coll, Mònica, Pinsach, Mel·lina, Pagans, Sara, Alcalde, Mireia, Viñas‐Jornet, Marina, Montero‐Vale, Mercedes, Castro‐Miró, Marta, Rodríguez, Jairo, Armengol, Lluís, Queralt, Xavier, Obón, María

“…Background Spastic paraplegia 11 (SPG11) is the most prevalent form of autosomal recessive hereditary spastic paraplegia, resulting from biallelic pathogenic…”
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Further delineation of the phenotype of PAK3-associated x-linked intellectual disability: Identification of a novel missense mutation and review of literature by Nagy, Dóra, Farkas, Katalin, Armengol, Lluís, Segura, Maria, Esi Zodanu, Gloria Kafui, Csányi, Bernadett, Zimmermann, Alíz, Vámos, Barbara, Széll, Márta

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Oligonucleotide arrays vs. metaphase-comparative genomic hybridisation and BAC arrays for single-cell analysis: first applications to preimplantation genetic diagnosis for Robertsonian translocation carriers by 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

“…Comprehensive chromosome analysis techniques such as metaphase-Comparative Genomic Hybridisation (CGH) and array-CGH are available for single-cell analysis…”
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Detection of chromothripsis-like patterns with a custom array platform for chronic lymphocytic leukemia by Salaverria, Itziar, Martín-Garcia, David, López, Cristina, Clot, Guillem, García-Aragonés, Manel, Navarro, Alba, Delgado, Julio, Baumann, Tycho, Pinyol, Magda, Martin-Guerrero, Idoia, Carrió, Ana, Costa, Dolors, Queirós, Ana C., Jayne, Sandrine, Aymerich, Marta, Villamor, Neus, Colomer, Dolors, González, Marcos, López-Guillermo, Armando, Campo, Elías, Dyer, Martin J. S., Siebert, Reiner, Armengol, Lluís, Beà, Sílvia

“…Chronic lymphocytic leukemia (CLL) is a common disease with highly variable clinical course. Several recurrent chromosomal alterations are associated with…”
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Genome assembly comparison identifies structural variants in the human genome by Khaja, Razi, Zhang, Junjun, MacDonald, Jeffrey R, He, Yongshu, Joseph-George, Ann M, Wei, John, Rafiq, Muhammad A, Qian, Cheng, Shago, Mary, Pantano, Lorena, Aburatani, Hiroyuki, Jones, Keith, Redon, Richard, Hurles, Matthew, Armengol, Lluis, Estivill, Xavier, Mural, Richard J, Lee, Charles, Scherer, Stephen W, Feuk, Lars

“…Numerous types of DNA variation exist, ranging from SNPs to larger structural alterations such as copy number variants (CNVs) and inversions. Alignment of DNA…”
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