http://publicationslist.org/data/r.de_cid/atom.xml Rafael de Cidhttp://publicationslist.org/r.de_cid$basepathfavicon.icoRecent additions to Rafael de Cid's PublicationsList.org pagehttp://publicationslist.org/publications.png2010-12-14T15:20:25Z http://publicationslist.org/r.de_cid/refid6 2010-11-15T09:38:02Z

BACKGROUND: Several genes identified by positional cloning have been associated with asthma and atopy, but few findings have been replicated. Age at onset of asthma has been associated with different phenotypic characteristics, and with variants at chromosome 17q21 identified through genome-wide association. This study examined the associations and age-specific effects on asthma, atopy and bronchi...<br/><br/>F Castro-Giner, R de Cid, J R Gonzalez, D Jarvis, J Heinrich, C Janson, E R Omenaas, M C Matheson, I Pin, J M Antó, M Wjst, X Estivill, M Kogevinas (2010) <i>Thorax</i> <i></i> <i></i> 65: 2 124-131<br/>

http://publicationslist.org/r.de_cid/refid8 2010-11-15T09:38:02Z

OBJECTIVE: We have assessed whether CFTR gene has a major impact on chronic pancreatitis (CP) pathogenesis than that provided by the CFTR mutations. For this aim, we have evaluated clinical parameters, CFTR mutations, and 3 potential regulatory CFTR variants (coding single-nucleotide polymorphisms): c.1540A>G, c.2694T>G, and c.4521G>A. METHODS: CFTR gene analysis was performed in a cohort of 136 C...<br/><br/>Rafael de Cid, Maria D Ramos, Luís Aparisi, Cecilia García, Josefina Mora, Xavier Estivill, Antoni Farré, Teresa Casals (2010) <i>Pancreas</i> <i></i> <i></i> 39: 2 209-215<br/>

http://publicationslist.org/r.de_cid/refid4 2010-12-14T15:17:52Z

Lynch syndrome is caused by germline mutations in the mismatch repair genes MLH1, MSH2, MSH6 or PMS2. The novel MSH2 c.[2635-3T>C; 2635-5C>T] mutation was identified in 4 Lynch families, cosegregating with the disease. This mutation, located in intron 15, was predicted to alter the correct mRNA processing by in silico analysis. Our aim was to perform the c.[2635-3T>C; 2635-5C>T] mutation screening...<br/><br/>M Menéndez, S Castellví-Bel, M Pineda, R de Cid, J Muñoz, S González, A Teulé, F Balaguer, T Ramón y Cajal, Josep M Reñé, I Blanco, A Castells, G Capellà (2010) <i>Clin Genet</i> <i></i> <i></i> 78: 2 186-190<br/>

http://publicationslist.org/r.de_cid/refid47 2010-12-14T15:17:51Z

A multicenter meta-analysis including data from 9,389 psoriasis patients and 9,477 control subjects was performed to investigate the contribution of the deletion of genes LCE3C and LCE3B, involved in skin barrier defense, to psoriasis susceptibility in different populations. The study confirms that the deletion of LCE3C and LCE3B is a common genetic factor for susceptibility to psoriasis in the Eu...<br/><br/>Eva Riveira-Munoz, Su-Min He, Georgia Escaramís, Philip E Stuart, Ulrike Hüffmeier, Catherine Lee, Brian Kirby, Akira Oka, Emiliano Giardina, Wilson Liao, Judith Bergboer, Kati Kainu, Rafael de Cid, Batmunkh Munkhbat, Patrick L J M Zeeuwen, John A L Armour, Annie Poon, Tomotaka Mabuchi, Akira Ozawa, Agnieszka Zawirska, A David Burden, Jonathan N Barker, Francesca Capon, Heiko Traupe, Liang-Dan Sun, Yong Cui, Xian-Yong Yin, Gang Chen, Henry W Lim, Rajan P Nair, John J Voorhees, Trilokraj Tejasvi, Ramón Pujol, Namid Munkhtuvshin, Judith Fischer, Juha Kere, Joost Schalkwijk, Anne Bowcock, Pui-Yan Kwok, Giuseppe Novelli, Hidetoshi Inoko, Anthony W Ryan, Richard C Trembath, André Reis, Xue-Jun Zhang, James T Elder, Xavier Estivill (2010) <i>J Invest Dermatol</i> <i></i> <i></i> : <br/>

http://publicationslist.org/r.de_cid/refid1 2010-11-15T09:38:02Z

Both neurological and immunological systems are vulnerable to early life exposures. Neurological disorders and atopy have been related in animals and humans. Our main objective was to assess whether multiple exposures to early life determinants remain associated with neurodevelopment after considering the potential intermediate role of atopy. A second objective was to assess whether genes associat...<br/><br/>J Sunyer, X Basagaña, J R González, J Júlvez, S Guerra, M Bustamante, R de Cid, J M Antó, M Torrent (2010) <i>Environ Res</i> <i></i> <i></i> 110: 7 733-738<br/>

http://publicationslist.org/r.de_cid/refid3 2010-11-15T09:38:02Z

Eating disorders (ED) are severe psychiatric diseases that most likely result from, and are sustained by socio-cultural, psychological and biological factors. We explored whether members of the neurotrophin family are disease-modifying factors of quantitative traits, potentially contributing to the outcome or prognosis of the disease. We studied lifetime minimum and maximum body mass index (minBMI...<br/><br/>Mònica Gratacòs, Geòrgia Escaramís, Mariona Bustamante, Ester Saus, Zaida Agüera, Mònica Bayés, Elena Cellini, Rafael de Cid, Fernando Fernández-Aranda, Laura Forcano, Juan R González, Philip Gorwood, Johannes Hebebrand, Anke Hinney, Josep M Mercader, Benedetta Nacmias, Nicolas Ramoz, Marta Ribasés, Valdo Ricca, Lucia Romo, Sandro Sorbi, Audrey Versini, Xavier Estivill (2010) <i>J Psychiatr Res</i> <i></i> <i></i> 44: 13 834-840<br/>

http://publicationslist.org/r.de_cid/refid2 2010-11-15T09:38:02Z

BACKGROUND: There is increasing interest in the pharmacogenetic basis for explaining differences between patients in treatment outcome among methadone-treated subjects. Most studies have focused on genetic polymorphisms related to methadone pharmacokinetics and, to a lesser extent, those genes implicated in the pharmacodynamics of methadone. OBJECTIVE: This study aimed to investigate the associati...<br/><br/>Francina Fonseca, Mònica Gratacòs, Geòrgia Escaramís, Rafael De Cid, Rocío Martín-Santos, Emilio Fernández-Espejo, Xavier Estivill, Marta Torrens (2010) <i>Mol Diagn Ther</i> <i></i> <i></i> 14: 3 171-178<br/>

http://publicationslist.org/r.de_cid/refid14 2010-11-15T09:38:02Z

Obesity is a risk factor for asthma. Adipose tissue expresses pro-inflammatory molecules including tumour necrosis factor (TNF), and levels of TNF are also related to polymorphisms in the TNF-alpha (TNFA) gene. The current authors examined the joint effect of obesity and TNFA variability on asthma in adults by combining two population-based studies. The European Community Respiratory Health Survey...<br/><br/>F Castro-Giner, M Kogevinas, M Imboden, R de Cid, D Jarvis, M Mächler, W Berger, P Burney, K A Franklin, J R Gonzalez, J Heinrich, C Janson, E Omenaas, I Pin, T Rochat, J Sunyer, M Wjst, J-M Antó, X Estivill, N M Probst-Hensch (2009) <i>Eur Respir J</i> <i></i> <i></i> 33: 5 1003-1009<br/>

http://publicationslist.org/r.de_cid/refid15 2010-11-15T09:38:02Z

Cutis laxa (CL) is a heterogeneous group of connective tissue disorders characterized by loose, sagging skin and variable involvement of other organs. Autosomal-dominant forms are relatively mild, and may be caused by mutations in the elastin gene, whereas the more severe recessive forms have been associated with mutations in the fibulin 4 and fibulin 5 genes, as well as in a vesicular ATPase subu...<br/><br/>Hala Mégarbané, Jobard Florence, Jörn Oliver Sass, Susanne Schwonbeck, Mario Foglio, Rafael de Cid, Susan Cure, Safa Saker, André Mégarbané, Judith Fischer (2009) <i>J Invest Dermatol</i> <i></i> <i></i> 129: 7 1650-1655<br/>

http://publicationslist.org/r.de_cid/refid17 2010-11-15T09:38:02Z

A fundamental difficulty in human genetics research is the identification of the spectrum of genetic variants that contribute to the susceptibility to common/complex disorders. We tested here the hypothesis that functional genetic variants may confer susceptibility to several related common disorders. We analyzed five main psychiatric diagnostic categories (substance-abuse, anxiety, eating, psycho...<br/><br/>Mònica Gratacòs, Javier Costas, Rafael de Cid, Mònica Bayés, Juan R González, Enrique Baca-García, Yolanda de Diego, Fernando Fernández-Aranda, José Fernández-Piqueras, Miriam Guitart, Rocío Martín-Santos, Lourdes Martorell, José M Menchón, Miquel Roca, Jerónimo Sáiz-Ruiz, Julio Sanjuán, Marta Torrens, Mikel Urretavizcaya, Joaquín Valero, Elisabet Vilella, Xavier Estivill, Angel Carracedo (2009) <i>Am J Med Genet B Neuropsychiatr Genet</i> <i></i> <i></i> 150B: 6 808-816<br/>

http://publicationslist.org/r.de_cid/refid13 2010-11-15T09:38:02Z

BACKGROUND: Maternal smoking during pregnancy is associated with cognitive deficits in children. Parental factors are proposed as an explanatory. We studied the influence of GSTM1 and GSTT1 polymorphisms on the cognition effects induced by active maternal smoking during pregnancy. METHODS: Children (n = 384) from a prospective population-based birth cohort were assessed at 4 years. The McCarthy Sc...<br/><br/>Eva Morales, Jordi Sunyer, Jordi Julvez, Francesc Castro-Giner, Xavier Estivill, Maties Torrent, Rafael De Cid (2009) <i>Int J Epidemiol</i> <i></i> <i></i> 38: 3 690-697<br/>

http://publicationslist.org/r.de_cid/refid16 2010-11-15T09:38:02Z

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 (CNV) using a sample pooling approach, we have identified a deletion comprising LCE3B and LCE3C, members of the late cornified envelope (LCE) gene cluster. The absence of LCE3B and LCE3C (LCE3C_LCE3B-del) is significantly associated (P = 1....<br/><br/>Rafael de Cid, Eva Riveira-Munoz, Patrick L J M Zeeuwen, Jason Robarge, Wilson Liao, Emma N Dannhauser, Emiliano Giardina, Philip E Stuart, Rajan Nair, Cynthia Helms, Georgia Escaramís, Ester Ballana, Gemma Martín-Ezquerra, Martin den Heijer, Marijke Kamsteeg, Irma Joosten, Evan E Eichler, Conxi Lázaro, Ramón M Pujol, Lluís Armengol, Gonçalo Abecasis, James T Elder, Giuseppe Novelli, John A L Armour, Pui-Yan Kwok, Anne Bowcock, Joost Schalkwijk, Xavier Estivill (2009) <i>Nat Genet</i> <i></i> <i></i> 41: 2 211-215<br/>

http://publicationslist.org/r.de_cid/refid11 2010-11-15T09:38:02Z

Attention-deficit/hyperactivity disorder (ADHD) is the most common psychiatric condition with onset in childhood, and in more than 50% of cases it persists into adulthood as a chronic disorder. Over five million methylphenidate (MPH) prescriptions were issued in the USA in 2003, mostly for children. A previous report [R.A. El-Zein, S.Z. Abdel-Rahman, M.J. Hay, M.S. Lopez, M.L. Bondy, D.L. Morris a...<br/><br/>Immaculada Ponsa, Josep Antoni Ramos-Quiroga, Marta Ribasés, Rosa Bosch, Anna Bielsa, Maria Teresa Ordeig, Marta Morell, Rosa Miró, Rafael de Cid, Xavier Estivill, Miquel Casas, Mònica Bayés, Bru Cormand, Amaia Hervás (2009) <i>Mutat Res</i> <i></i> <i></i> 666: 1-2 44-49<br/>

http://publicationslist.org/r.de_cid/refid12 2010-11-15T09:38:02Z

The authors investigated the association of early-life exposure to indoor air pollution with neuropsychological development in preschoolers and assessed whether this association differs by glutathione-S-transferase gene (GSTP1) polymorphisms. A prospective, population-based birth cohort was set up in Menorca, Spain, in 1997-1999 (n = 482). Children were assessed for cognitive functioning (McCarthy...<br/><br/>Eva Morales, Jordi Julvez, Maties Torrent, Rafael de Cid, Mònica Guxens, Mariona Bustamante, Nino Künzli, Jordi Sunyer (2009) <i>Am J Epidemiol</i> <i></i> <i></i> 169: 11 1327-1336<br/>

http://publicationslist.org/r.de_cid/refid7 2010-11-15T09:38:02Z

BACKGROUND: Asthma and atopy are complex phenotypes with shared genetic component. In this study we attempt to identify genes related to these traits performing a two-stage DNA pooling genome-wide analysis in order to reduce costs. First, we assessed all markers in a subset of subjects using DNA pooling, and in a second stage we evaluated the most promising markers at an individual level. METHODS:...<br/><br/>Francesc Castro-Giner, Mariona Bustamante, Juan Ramon González, Manolis Kogevinas, Deborah Jarvis, Joachim Heinrich, Josep-Maria Antó, Matthias Wjst, Xavier Estivill, Rafael de Cid (2009) <i>BMC Med Genet</i> <i></i> <i></i> 10: <br/>

http://publicationslist.org/r.de_cid/refid9 2010-11-15T09:38:02Z

BACKGROUND: Several clinical and genetic studies have focused on the role of brain-derived neurotrophic factor (BDNF) in the pathophysiology of various mental disorders. Recent lines of evidence regarding the network hypothesis of treatment outcome point towards the involvement of BDNF variants in the pharmacologic response in mood disorders (MD). Furthermore, there is strong evidence of a role fo...<br/><br/>Eva Real, Mònica Gratacòs, Virginia Soria, Geòrgia Escaramís, Pino Alonso, Cinto Segalàs, Mònica Bayés, Rafael de Cid, José M Menchón, Xavier Estivill (2009) <i>Biol Psychiatry</i> <i></i> <i></i> 66: 7 674-680<br/>

http://publicationslist.org/r.de_cid/refid5 2010-11-15T09:38:02Z

BACKGROUND: Traffic-related air pollution is related with asthma, and this association may be modified by genetic factors. OBJECTIVES: We investigated the role of genetic polymorphisms potentially modifying the association between home outdoor levels of modeled nitrogen dioxide and asthma. METHODS: Adults from 13 cities of the second European Community Respiratory Health Survey (ECRHS II) were inc...<br/><br/>Francesc Castro-Giner, Nino Künzli, Bénédicte Jacquemin, Bertil Forsberg, Rafael de Cid, Jordi Sunyer, Deborah Jarvis, David Briggs, Danielle Vienneau, Dan Norback, Juan R González, Stefano Guerra, Christer Janson, Josep-Maria Antó, Matthias Wjst, Joachim Heinrich, Xavier Estivill, Manolis Kogevinas (2009) <i>Environ Health Perspect</i> <i></i> <i></i> 117: 12 1919-1924<br/>

http://publicationslist.org/r.de_cid/refid10 2010-11-15T09:38:02Z

Psoriasis is a common inflammatory and hyperproliferative skin disease. Recent studies have reported that common genetic factors may underlie both skin and immune-mediated disorders. We hypothesized that such genes may be involved in susceptibility to psoriasis, and undertook an association analysis of 22 candidate genes in a set of French high-risk psoriasis families. One hundred fifty-three sing...<br/><br/>Tiphaine Oudot, Fabienne Lesueur, Mickaël Guedj, Rafael de Cid, Steven McGinn, Simon Heath, Mario Foglio, Bernard Prum, Mark Lathrop, Jean-François Prud'homme, Judith Fischer (2009) <i>J Invest Dermatol</i> <i></i> <i></i> 129: 11 2637-2645<br/>

http://publicationslist.org/r.de_cid/refid22 2010-11-15T09:38:02Z

Eating disorders (EDs) are complex psychiatric diseases that include anorexia nervosa and bulimia nervosa, and have higher than 50% heritability. Previous studies have found association of BDNF and NTRK2 to ED, while animal models suggest that other neurotrophin genes might also be involved in eating behavior. We have performed a family-based association study with 151 TagSNPs covering 10 neurotro...<br/><br/>Josep Maria Mercader, Ester Saus, Zaida Agüera, Mònica Bayés, Claudette Boni, Anna Carreras, Elena Cellini, Rafael de Cid, Mara Dierssen, Geòrgia Escaramís, Fernando Fernández-Aranda, Laura Forcano, Xavier Gallego, Juan Ramón González, Philip Gorwood, Johannes Hebebrand, Anke Hinney, Benedetta Nacmias, Anna Puig, Marta Ribasés, Valdo Ricca, Lucia Romo, Sandro Sorbi, Audrey Versini, Mònica Gratacòs, Xavier Estivill (2008) <i>Hum Mol Genet</i> <i></i> <i></i> 17: 9 1234-1244<br/>

http://publicationslist.org/r.de_cid/refid21 2010-11-15T09:38:02Z

Genetic association studies have related the tumour necrosis factor-alpha gene (TNFA) guanine to adenine substitution of nucleotide -308 (-308G>A) polymorphism to increased risk of asthma, but results are inconsistent. The aim of the present study was to test whether two single-nucleotide polymorphisms, of TNFA and of the lymphotoxin-alpha gene (LTA), are associated with asthma, bronchial hyperres...<br/><br/>F Castro-Giner, M Kogevinas, M Mächler, R de Cid, K Van Steen, M Imboden, C Schindler, W Berger, J R Gonzalez, K A Franklin, C Janson, D Jarvis, E Omenaas, P Burney, T Rochat, X Estivill, J M Antó, M Wjst, N M Probst-Hensch (2008) <i>Eur Respir J</i> <i></i> <i></i> 32: 2 350-361<br/>

http://publicationslist.org/r.de_cid/refid18 2010-11-15T09:38:02Z

BACKGROUND: Early-life exposure to p,p'-DDT [2,2-bis(p-chlorophenyl)-1,1,1-trichloroethane] is associated with a decrease in cognitive skills among preschoolers at 4 years of age. We hypothesized that genetic variability in glutathione S-transferase (GST) genes (GSTP1, GSTM1, and GSTT1) could influence the effects of prenatal exposure to p,p'-DDT. METHODS: We used data from 326 children assessed i...<br/><br/>Eva Morales, Jordi Sunyer, Francesc Castro-Giner, Xavier Estivill, Jordi Julvez, Nuria Ribas-Fitó, Maties Torrent, Joan O Grimalt, Rafael de Cid (2008) <i>Environ Health Perspect</i> <i></i> <i></i> 116: 11 1581-1585<br/>

http://publicationslist.org/r.de_cid/refid23 2010-11-15T09:38:02Z

Brain-derived neurotrophic factor (BDNF) signaling pathways have been shown to be essential for opioid-induced plasticity. We conducted an exploratory study to evaluate BDNF variability in opioid addict responders and nonresponders to methadone maintenance treatment (MMT). We analyzed 21 single nucleotide polymorphisms (SNPs) across the BDNF genomic region. Responders and nonresponders were classi...<br/><br/>R de Cid, F Fonseca, M Gratacòs, F Gutierrez, R Martín-Santos, X Estivill, M Torrens (2008) <i>Genes Brain Behav</i> <i></i> <i></i> 7: 5 515-522<br/>

http://publicationslist.org/r.de_cid/refid19 2010-11-15T09:38:02Z

Recent work suggests that neurotrophic factors may contribute to the genetic susceptibility to obsessive-compulsive disorder (OCD). Among other clinical dimensions, the presence of hoarding obsessions and compulsions has been shown to be correlated with a number of clinical and neuroimaging findings, as well as with a different pattern of genetic inheritance. We used a linkage disequilibrium (LD)-...<br/><br/>P Alonso, M Gratacòs, J M Menchón, C Segalàs, J R González, J Labad, M Bayés, E Real, R de Cid, A Pertusa, G Escaramís, J Vallejo, X Estivill (2008) <i>Genes Brain Behav</i> <i></i> <i></i> 7: 7 778-785<br/>

http://publicationslist.org/r.de_cid/refid20 2010-11-15T09:38:02Z

Single nucleotide polymorphisms (SNPs) are the most widely used marker in studies to assess associations between genetic variants and complex traits or diseases. They are also becoming increasingly important in the study of the evolution and history of humans and other species. The analysis and processing of SNPs obtained thanks to high-throughput technologies imply the time consuming and costly u...<br/><br/>Carlos Morcillo-Suarez, Josep Alegre, Ricardo Sangros, Elodie Gazave, Rafael de Cid, Roger Milne, Jorge Amigo, Anna Ferrer-Admetlla, Andrés Moreno-Estrada, Michelle Gardner, Ferran Casals, Anna Pérez-Lezaun, David Comas, Elena Bosch, Francesc Calafell, Jaume Bertranpetit, Arcadi Navarro (2008) <i>Bioinformatics</i> <i></i> <i></i> 24: 14 1643-1644<br/>

http://publicationslist.org/r.de_cid/refid24 2010-11-15T09:38:02Z

Mitochondrial DNA (mtDNA) mutations are an important cause of human disease. Most mtDNA mutations are found in heteroplasmy, in which the proportion of mutant vs. wild-type species is believed to explain some of the observed high phenotypic heterogeneity. However, homoplasmic mutations also observe phenotypic heterogeneity, which may be in part due to undetected low levels of heteroplasmy. In the ...<br/><br/>Ester Ballana, Nancy Govea, Rafael de Cid, Cecilia Garcia, Carles Arribas, Jordi Rosell, Xavier Estivill (2008) <i>Hum Mutat</i> <i></i> <i></i> 29: 2 248-257<br/>

http://publicationslist.org/r.de_cid/refid25 2010-11-15T09:38:02Z

BACKGROUND: Family, twin and molecular studies provide increasing evidence for the importance of genetic factors in obsessive-compulsive disorder (OCD). Recent work suggests that brain-derived neurotrophic factor (BDNF) may be involved in OCD pathophysiology. We used a linkage disequilibrium (LD)-mapping approach to investigate the role that BDNF and its specific receptor neurotrophic tyrosine kin...<br/><br/>Pino Alonso, Mónica Gratacòs, José M Menchón, Jerónimo Saiz-Ruiz, Cinto Segalàs, Enrique Baca-García, Javier Labad, José Fernández-Piqueras, Eva Real, Concepción Vaquero, Mercedes Pérez, Helen Dolengevich, Juan R González, Mónica Bayés, Rafael de Cid, Julio Vallejo, Xavier Estivill (2008) <i>Biol Psychiatry</i> <i></i> <i></i> 63: 6 619-628<br/>

http://publicationslist.org/r.de_cid/refid26 2010-11-15T09:38:02Z

Brain-derived neurotrophic factor (BDNF) has been studied extensively in relation to the susceptibility to mood disorders (MD), although it remains to be clarified whether BDNF is a susceptibility locus for MD phenotypes, including therapeutic response to antidepressants. We have performed a single-marker and haplotype association study of eight TagSNPs polymorphisms in the genomic region containi...<br/><br/>M Gratacòs, V Soria, M Urretavizcaya, J R González, J M Crespo, M Bayés, R de Cid, J M Menchón, J Vallejo, X Estivill (2008) <i>Pharmacogenomics J</i> <i></i> <i></i> 8: 2 101-112<br/>

http://publicationslist.org/r.de_cid/refid30 2010-11-15T09:38:02Z

BACKGROUND: There is an increasing recognition that the pathophysiology of mental disorders could be the result of deregulation of synaptic plasticity with alterations of neurotrophins. The valine (Val)66-to-methionine (Met) variant, located in the pro brain-derived neurotrophic factor (BDNF) sequence, has been extensively studied through linkage and association approaches in several psychiatric d...<br/><br/>Mònica Gratacòs, Juan R González, Josep M Mercader, Rafael de Cid, Mikel Urretavizcaya, Xavier Estivill (2007) <i>Biol Psychiatry</i> <i></i> <i></i> 61: 7 911-922<br/>

http://publicationslist.org/r.de_cid/refid31 2010-11-15T09:38:02Z

A large number of nevi (LNN) is a high risk phenotypic trait for developing cutaneous malignant melanoma (CMM). In this study, the breakpoints of a t(9;12)(p21;q13) balanced chromosome translocation were finely mapped in a family with LNN and CMM. Molecular characterization of the 9p21 breakpoint identified a novel gene C9orf14 expressed in melanocytes disrupted by the translocation. Integrative a...<br/><br/>Miguel Angel Pujana, Anna Ruiz, Cèlia Badenas, Josep-Anton Puig-Butille, Marga Nadal, Mitchell Stark, Laia Gómez, Joan Valls, Xavier Solé, Pilar Hernández, Celia Cerrato, Irene Madrigal, Rafael de Cid, Helena Aguilar, Gabriel Capellá, Santiago Cal, Michael R James, Graeme J Walker, Josep Malvehy, Montserrat Milà, Nicholas K Hayward, Xavier Estivill, Susana Puig (2007) <i>Genes Chromosomes Cancer</i> <i></i> <i></i> 46: 2 155-162<br/>

http://publicationslist.org/r.de_cid/refid29 2010-11-15T09:38:02Z

BACKGROUND & AIMS: Whereas it has conclusively been demonstrated that biallelic MutY human homolog (MYH) mutations confer a significant risk for colorectal cancer (CRC), the influence of monoallelic mutations remains controversial. Characterization of MYH-associated CRC is critical to identify individuals who might benefit from preventive strategies. This prospective, multicenter, case-control, po...<br/><br/>Francesc Balaguer, Sergi Castellví-Bel, Antoni Castells, Montserrat Andreu, Jenifer Muñoz, Javier P Gisbert, Xavier Llor, Rodrigo Jover, Rafael de Cid, Victòria Gonzalo, Xavier Bessa, Rosa M Xicola, Elisenda Pons, Cristina Alenda, Artemio Payá, Josep M Piqué (2007) <i>Clin Gastroenterol Hepatol</i> <i></i> <i></i> 5: 3 379-387<br/>

http://publicationslist.org/r.de_cid/refid28 2010-11-15T09:38:02Z

Murine models and association studies in eating disorder (ED) patients have shown a role for the brain-derived neurotrophic factor (BDNF) in eating behavior. Some studies have shown association of BDNF -270C/T single-nucleotide polymorphism (SNP) with bulimia nervosa (BN), while BDNF Val66Met variant has been shown to be associated with both BN and anorexia nervosa (AN). To further test the role o...<br/><br/>J M Mercader, M Ribasés, M Gratacòs, J R González, M Bayés, R de Cid, A Badía, F Fernández-Aranda, X Estivill (2007) <i>Genes Brain Behav</i> <i></i> <i></i> 6: 8 706-716<br/>

http://publicationslist.org/r.de_cid/refid27 2010-11-15T09:38:02Z

ARLTS1 was recently identified in chromosome 13q14 as a tumor suppressor gene of the ADP-ribosylation factor family with pro-apoptotic characteristics. Additionally, one of its genetic variants (W149X) was hypothesized to be a polymorphism associated with familial cancer. We performed a large case-control association study within the EPICOLON project aimed at evaluating the sporadic and familial c...<br/><br/>Sergi Castellví-Bel, Antoni Castells, Rafael de Cid, Jenifer Muñoz, Francesc Balaguer, Victoria Gonzalo, Clara Ruiz-Ponte, Montserrat Andreu, Xavier Llor, Rodrigo Jover, Xavier Bessa, Rosa M Xicola, Elisenda Pons, Cristina Alenda, Artemio Payá, Angel Carracedo, Josep M Piqué (2007) <i>Carcinogenesis</i> <i></i> <i></i> 28: 8 1687-1691<br/>

http://publicationslist.org/r.de_cid/refid32 2010-11-15T09:38:02Z

F Castro-Giner, F Kauffmann, R de Cid, M Kogevinas (2006) <i>Occup Environ Med</i> <i></i> <i></i> 63: 11 776-86, 761<br/>

http://publicationslist.org/r.de_cid/refid33 2010-11-15T09:38:02Z

Several lines of evidence support a role for brain-derived neurotrophic factor (BDNF) alterations in the etiology of eating disorders (EDs). BDNF heterozygous knockout mice show alterations in eating behavior, increased body weight and adipocyte hypertrophy. BDNF also regulates the synaptic efficiency through the modulation of key neurotransmitter systems previously known to be involved in ED. The...<br/><br/>M Ribasés, M Gratacòs, L Armengol, R de Cid, A Badía, L Jiménez, R Solano, J Vallejo, F Fernández, X Estivill (2003) <i>Mol Psychiatry</i> <i></i> <i></i> 8: 8 745-751<br/>

http://publicationslist.org/r.de_cid/refid35 2010-11-15T09:38:02Z

PSORS1, near HLA-C, is the major genetic determinant of psoriasis. We present genetic and structural evidence suggesting a major role for the HCR gene at the PSORS1 locus. Genotyping of 419 families from six populations revealed that coding single-nucleotide polymorphisms of HCR formed a conserved allele HCR*WWCC that associated highly significantly with psoriasis and with the HLA-Cw6 allele in al...<br/><br/>Kati Asumalahti, Colin Veal, Tarja Laitinen, Sari Suomela, Michael Allen, Outi Elomaa, Michael Moser, Rafael de Cid, Samuli Ripatti, Igor Vorechovsky, Jan A Marcusson, Hidemi Nakagawa, Conxi Lazaro, Xavier Estivill, Francesca Capon, Giuseppe Novelli, Ulpu Saarialho-Kere, Jonathan Barker, Richard Trembath, Juha Kere (2002) <i>Hum Mol Genet</i> <i></i> <i></i> 11: 5 589-597<br/>

http://publicationslist.org/r.de_cid/refid34 2010-11-15T09:38:02Z

Pendred syndrome is an autosomal-recessive disorder characterized by congenital sensorineural hearing loss combined with goiter. This disorder may account for up to 10% of cases of hereditary deafness. The disease gene (PDS/SLC26A4) has been mapped to chromosome 7q22-q31 and encodes a chloride-iodide transport protein. Mutations in this gene are also a cause of non-syndromic autosomal recessive he...<br/><br/>N López-Bigas, S Melchionda, R de Cid, A Grifa, L Zelante, N Govea, M L Arbonés, P Gasparini, X Estivill (2002) <i>Hum Mutat</i> <i></i> <i></i> 20: 1 77-78<br/>

http://publicationslist.org/r.de_cid/refid38 2010-11-15T09:38:02Z

R de Cid, J C Chomel, C Lazaro, J Sunyer, M Baudis, T Casals, N Le Moual, A Kitzis, J Feingold, J Anto, X Estivill, F Kauffmann (2001) <i>Eur J Hum Genet</i> <i></i> <i></i> 9: 1 67-69<br/>

http://publicationslist.org/r.de_cid/refid37 2010-11-15T09:38:02Z

BACKGROUND: Identification of the susceptibility regions to psoriasis in Spanish population. Analysis of the chromosomal regions 6p, 17q, 4q and 1cen-q21. PATIENTS AND METHOD: Analysis of 27 Spanish families with psoriasis. Parametric and non-parametric linkage analysis with 22 polymorphic microsatellite markers in the candidate regions. RESULTS: Evidence of linkage (p < 0,05) using non-parametric...<br/><br/>R de Cid, V Volpini, L Almasy, D Otero, X Estivil, C Lázaro (2001) <i>Med Clin (Barc)</i> <i></i> <i></i> 117: 2 49-51<br/>

http://publicationslist.org/r.de_cid/refid36 2010-11-15T09:38:02Z

Pendred syndrome is an autosomal-recessive disorder characterized by congenital sensorineural hearing loss combined with goiter. This disorder may account for up to 10% of cases of hereditary deafness. The disease gene (PDS/SLC26A4) has been mapped to chromosome 7q22-q31 and encodes a chloride-iodide transport protein. Mutations in this gene are also a cause of non-syndromic autosomal recessive he...<br/><br/>N López-Bigas, S Melchionda, R de Cid, A Grifa, L Zelante, N Govea, M L Arbonés, P Gasparini, X Estivill (2001) <i>Hum Mutat</i> <i></i> <i></i> 18: 6 <br/>

http://publicationslist.org/r.de_cid/refid41 2010-11-15T09:38:02Z

On the basis of studies with animal models, the gene for the low-affinity receptor for immunoglobulin E (IgE) (FCER2, CD23) has been implicated as a candidate for IgE-mediated allergic diseases and bronchial hyperreactivity, or related traits. Given evidence for genetic complexity in atopic disorders, we sought to study two European subpopulations, Finnish and Catalonian. We studied three phenotyp...<br/><br/>T Laitinen, V Ollikainen, C Lázaro, P Kauppi, R de Cid, J M Antó, X Estivill, H Lokki, H Mannila, L A Laitinen, J Kere (2000) <i>Am J Respir Crit Care Med</i> <i></i> <i></i> 161: 3 Pt 1 700-706<br/>

http://publicationslist.org/r.de_cid/refid40 2010-11-15T09:38:02Z

Given q as the global frequency of the alleles causing a disease, any allele with a frequency higher than q minus the cumulative frequency of the previously known disease-causing mutations (threshold) cannot be the cause of that disease. This principle was applied to the analysis of cystic fibrosis transmembrane conductance regulator (CFTR) mutations in order to decide whether they are the cause o...<br/><br/>C Bombieri, S Giorgi, S Carles, R de Cid, F Belpinati, C Tandoi, N Pallares-Ruiz, C Lazaro, B M Ciminelli, M C Romey, T Casals, F Pompei, G Gandini, M Claustres, X Estivill, P F Pignatti, G Modiano (2000) <i>Hum Genet</i> <i></i> <i></i> 106: 2 172-178<br/>

http://publicationslist.org/r.de_cid/refid39 2010-11-15T09:38:02Z

A number of genes/regions have recently been reported to be linked to asthma or its related phenotypes (i.e. atopy and bronchial hyperresponsiveness), by genetic linkage and allele-sharing methods. We have performed a case-control study comparing the allelic distribution of nine microsatellite markers and two genetic variants in a group of patients attended at emergency room departments because of...<br/><br/>J B Soriano, R de Cid, X Estivill, J M Antó, J Sunyer, D Otero, J Roca, R Rodríguez-Roisín, F Morell, M J Rodrigo, G Ercilla, T H Beaty, C Lázaro (2000) <i>Eur J Epidemiol</i> <i></i> <i></i> 16: 8 745-750<br/>

http://publicationslist.org/r.de_cid/refid44 2010-11-15T09:38:02Z

Lysinuric protein intolerance (LPI; OMIM 222700) is a rare, recessive disorder with a worldwide distribution, but with a high prevalence in the Finnish population; symptoms include failure to thrive, growth retardation, muscle hypotonia and hepatosplenomegaly. A defect in the plasma membrane transport of dibasic amino acids has been demonstrated at the baso-lateral membrane of epithelial cells in ...<br/><br/>D Torrents, J Mykkänen, M Pineda, L Feliubadaló, R Estévez, R de Cid, P Sanjurjo, A Zorzano, V Nunes, K Huoponen, A Reinikainen, O Simell, M L Savontaus, P Aula, M Palacín (1999) <i>Nat Genet</i> <i></i> <i></i> 21: 3 293-296<br/>

http://publicationslist.org/r.de_cid/refid43 2010-11-15T09:38:02Z

Asthma is a complex genetic disorder that affects 5% of adults and 10% of children worldwide. The complete characterization of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified missense mutations in 15% of 144 unrelated adult patients with asthma, but in none of 41 subjects from the general population. The four more common mutations were analyzed in an extended sample ...<br/><br/>C Lázaro, R de Cid, J Sunyer, J Soriano, J Giménez, M Alvarez, T Casals, J M Antó, X Estivill (1999) <i>Hum Mutat</i> <i></i> <i></i> 14: 6 510-519<br/>

http://publicationslist.org/r.de_cid/refid42 2010-11-15T09:38:02Z

Pendred syndrome is a recessive inherited disorder that consists of developmental abnormalities of the cochlea, sensorineural hearing loss, and diffuse thyroid enlargement (goiter). This disorder may account for up to 10% of cases of hereditary deafness. The disease gene (PDS) has been mapped to chromosome 7q22-q31, and encodes a chloride-iodide transport protein. We performed mutation analysis of...<br/><br/>N López-Bigas, R Rabionet, R de Cid, N Govea, P Gasparini, L Zelante, M L Arbonés, X Estivill (1999) <i>Hum Mutat</i> <i></i> <i></i> 14: 6 520-526<br/>

http://publicationslist.org/r.de_cid/refid45 2010-11-15T09:38:02Z

A proportion of peripheral T cells lack surface expression of the CD4 or CD8 coreceptor molecules and hence are designated as " double negative" (DN). Most DN T lymphocytes express the gamma/delta T cell receptor (TcR), but a minor fraction of them, in both humans and mice, express the alpha/beta TcR. Whereas alpha/beta+ DN T lymphocytes are infrequent (< 1%) in conventional lymphoid organs (splee...<br/><br/>C Martínez, M A Marcos, I M de Alboran, J M Alonso, R de Cid, G Kroemer, A Coutinho (1993) <i>Eur J Immunol</i> <i></i> <i></i> 23: 1 250-254<br/>

http://publicationslist.org/r.de_cid/refid46 2010-11-15T09:38:02Z

G Kroemer, R de Cid, I Moreno de Alborán, J A Gonzalo, A Iglesias, C Martínez, J C Gutierrez-Ramos (1991) <i>Immunol Rev</i> <i></i> <i></i> 122: 173-204<br/>