Works by Estivill, Xavier

Results: 180

Overexpression of the CHRNA5/A3/B4 genomic cluster in mice increases the sensitivity to nicotine and modifies its reinforcing effects.

Published in:

Amino Acids, 2012, v. 43, n. 2, p. 897, doi. 10.1007/s00726-011-1149-y

By:

Gallego, Xavier;
Molas, Susanna;
Amador-Arjona, Alejandro;
Marks, Michael;
Robles, Noemí;
Murtra, Patricia;
Armengol, Lluís;
Fernández-Montes, Rubén;
Gratacòs, Mònica;
Pumarola, Martí;
Cabrera, Roberto;
Maldonado, Rafael;
Sabrià, Josefa;
Estivill, Xavier;
Dierssen, Mara

Publication type:

Article

Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1709

By:

Al‐Shafai, Kholoud N.;
Al‐Hashemi, Mohammed;
Manickam, Chidambaram;
Musa, Rania;
Selvaraj, Senthil;
Syed, Najeeb;
Vempalli, Fazulur;
Ali, Muneera;
Yacoub, Magdi;
Estivill, Xavier

Publication type:

Article

Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing.

Published in:

Molecular Genetics & Genomic Medicine, 2014, v. 2, n. 5, p. 412, doi. 10.1002/mgg3.82

By:

Trujillano, Daniel;
Bullich, Gemma;
Ossowski, Stephan;
Ballarín, José;
Torra, Roser;
Estivill, Xavier;
Ars, Elisabet

Publication type:

Article

SeqBuster, a bioinformatic tool for the processing and analysis of small RNAs datasets, reveals ubiquitous miRNA modifications in human embryonic cells.

Published in:

Nucleic Acids Research, 2010, v. 38, n. 5, p. e34, doi. 10.1093/nar/gkp1127

By:

Pantano, Lorena;
Estivill, Xavier;
Martí, Eulàlia

Publication type:

Article

Cold shock induces the insertion of a cryptic exon in the neurofibromatosis type 1 (NF1) mRNA.

Published in:

Nucleic Acids Research, 2000, v. 28, n. 6, p. 1307, doi. 10.1093/nar/28.6.1307

By:

Ars, Elisabet;
Serra, Eduard;
de la Luna, Susana;
Estivill, Xavier;
Lázaro, Conxi

Publication type:

Article

Evidence for the biogenesis of more than 1,000 novel human microRNAs.

Published in:

Genome Biology, 2014, v. 15, n. 4, p. 1, doi. 10.1186/gb-2014-15-4-r57

By:

Friedländer, Marc R.;
Lizano, Esther;
Houben, Anna J. S.;
Bezdan, Daniela;
Báñez-Coronel, Mónica;
Kudla, Grzegorz;
Mateu-Huertas, Elisabet;
Kagerbauer, Birgit;
González, Justo;
Chen, Kevin C.;
LeProust, Emily M.;
Martí, Eulàlia;
Estivill, Xavier

Publication type:

Article

Genetic variations of the bitter taste receptor TAS2R38 are associated with obesity and impact on single immune traits.

Published in:

Molecular Nutrition & Food Research, 2016, v. 60, n. 7, p. 1673, doi. 10.1002/mnfr.201500804

By:

Ortega, Francisco J.;
Agüera, Zaida;
Sabater, Mònica;
Moreno‐Navarrete, José M;
Alonso‐Ledesma, Isabel;
Xifra, Gemma;
Botas, Patricia;
Delgado, Elías;
Jimenez‐Murcia, Susana;
Fernández‐García, José C.;
Tinahones, Francisco J;
Baños, Rosa M.;
Botella, Cristina;
Torre, Rafael;
Frühbeck, Gema;
Rodrigüez, Amaia;
Estivill, Xavier;
Casanueva, Felipe;
Ricart, Wifredo;
Fernández‐Aranda, Fernando

Publication type:

Article

Suitability of oligonucleotide-mediated cystic fibrosis gene repair in airway epithelial cells.

Published in:

Journal of Gene Medicine, 2003, v. 5, n. 7, p. 625, doi. 10.1002/jgm.374

By:

David de Semir;
Marga Nadal;
Juan R. González;
Sara Larriba;
Anna Avinyó;
Virginia Nunes;
Teresa Casals;
Xavier Estivill;
Josep M. Aran

Publication type:

Article

Non-viral vector-mediated uptake, distribution, and stability of chimeraplasts in human airway epithelial cells.

Published in:

Journal of Gene Medicine, 2002, v. 4, n. 3, p. 308, doi. 10.1002/jgm.264

By:

de Semir, David;
Petriz, Jordi;
Avinyó, Anna;
Larriba, Sara;
Nunes, Virginia;
Casals, Teresa;
Estivill, Xavier;
Aran, Josep M.

Publication type:

Article

Intratumoral activation of cyclophosphamide by retroviral transfer of the cytochrome P450 2B1 in a pancreatic tumor model. Combination with the HSVtk/GCV system.

Published in:

Journal of Gene Medicine, 2002, v. 4, n. 2, p. 141, doi. 10.1002/jgm.247

By:

Carrió, Meritxell;
Visa, Joana;
Cascante, Anna;
Estivill, Xavier;
Fillat, Cristina

Publication type:

Article

Actionable genomic variants in 6045 participants from the Qatar Genome Program.

Published in:

Human Mutation, 2021, v. 42, n. 12, p. 1584, doi. 10.1002/humu.24278

By:

Elfatih, Amal;
Mifsud, Borbala;
Syed, Najeeb;
Badii, Ramin;
Mbarek, Hamdi;
Abbaszadeh, Fatemeh;
Estivill, Xavier;
Ismail, Said;
Al‐Muftah, Wadha;
Badji, Radja;
Darwish, Dima;
Fadl, Tasnim;
Yasin, Heba;
Ennaifar, Maryem;
Abdel‐latif, Rania;
Alkuwari, Fatima;
Alvi, Muhammad;
Sarraj, Yasser Al;
Saad, Chadi;
Althani, Asmaa

Publication type:

Article

Contribution of the TTC21B gene to glomerular and cystic kidney diseases.

Published in:

Nephrology Dialysis Transplantation, 2017, v. 32, n. 1, p. 151, doi. 10.1093/ndt/gfv453

By:

Bullich, Gemma;
Vargas, Iván;
Trujillano, Daniel;
Mendizábal, Santiago;
Alberto Piñero-Fernández, Juan;
Fraga, Gloria;
García-Solano, José;
Ballarín, José;
Estivill, Xavier;
Torra, Roser;
Ars, Elisabet

Publication type:

Article

Identification of autosomal cis expression quantitative trait methylation (cis eQTMs) in children's blood.

Published in:

eLife, 2022, p. 1, doi. 10.7554/eLife.65310

By:

Ruiz-Arenas, Carlos;
Hernandez-Ferrer, Carles;
Vives-Usano, Marta;
Marí, Sergi;
Quintela, Ines;
Mason, Dan;
Cadiou, Solène;
Casas, Maribel;
Andrusaityte, Sandra;
Gutzkow, Kristine Bjerve;
Vafeiadi, Marina;
Wright, John;
Lepeule, Johanna;
Grazuleviciene, Regina;
Chatzi, Leda;
Carracedo, Ángel;
Estivill, Xavier;
Marti, Eulàlia;
Escaramís, Geòrgia;
Vrijheid, Martine

Publication type:

Article

Identification of autosomal cis expression quantitative trait methylation (cis eQTMs) in children's blood.

Published in:

eLife, 2022, p. 1, doi. 10.7554/eLife.65310

By:

Ruiz-Arenas, Carlos;
Hernandez-Ferrer, Carles;
Usano, Marta Vives;
Marí, Sergi;
Quintela, Ines;
Mason, Dan;
Cadiou, Solène;
Casas, Maribel;
Andrusaityte, Sandra;
Gutzkow, Kristine Bjerve;
Vafeiadi, Marina;
Wright, John;
Lepeule, Johanna;
Grazuleviciene, Regina;
Chatzi, Leda;
Carracedo, Ángel;
Estivill, Xavier;
Marti, Eulàlia;
Escaramís, Geòrgia;
Vrijheid, Martine

Publication type:

Article

Small non-coding RNAs add complexity to the RNA pathogenic mechanisms in trinucleotide repeat expansion diseases.

Published in:

Frontiers in Molecular Neuroscience, 2013, v. 6, p. 1, doi. 10.3389/fnmol.2013.00045

By:

Martí, Eulàlia;
Estivill, Xavier

Publication type:

Article

The Human Early-Life Exposome (HELIX): Project Rationale and Design.

Published in:

Environmental Health Perspectives, 2014, v. 122, n. 6, p. 535, doi. 10.1289/ehp.1307204

By:

Vrijheid, Martine;
Slama, Rémy;
Robinson, Oliver;
Chatzi, Leda;
Coen, Muireann;
Hazel, Peter van den;
Thomsen, Cathrine;
Wright, John;
Athersuch, Toby J.;
Avellana, Narcis;
Basagana, Xavier;
Brochot, Celine;
Bucchini, Luca;
Bustamante, Mariona;
Carracedo, Angel;
Casas, Maribel;
Estivill, Xavier;
Fairley, Lesley;
Gent, Diana van;
Gonzalez, Juan R.

Publication type:

Article

Traffic-Related Air Pollution, Oxidative Stress Genes, and Asthma (ECHRS).

Published in:

Environmental Health Perspectives, 2009, v. 117, n. 12, p. 1919, doi. 10.1289/ehp.0900589

By:

Castro-Giner, Francesc;
Künzli, Nino;
Jacquemin, Bénédicte;
Forsberg, Bertil;
de^Cid, Rafael;
Sunyer, Jordi;
Jarvis, Deborah;
Briggs, David;
Vienneau, Danielle;
Norback, Dan;
González, Juan R.;
Guerra, Stefano;
Janson, Christer;
Antó, Josep-Maria;
Wjst, Matthias;
Heinrich, Joachim;
Estivill, Xavier;
Kogevinas, Manolis

Publication type:

Article

Influence of Glutathione S-Transferase Polymorphisms on Cognitive Functioning Effects Induced by p,p´-DDT among Preschoolers.

Published in:

Environmental Health Perspectives, 2008, v. 116, n. 11, p. 1581, doi. 10.1289/ehp.11303

By:

Morales, Eva;
Sunyer, Jordi;
Castro-Giner, Francesc;
Estivill, Xavier;
Julvez, Jordi;
Ribas-Fitó, Nuria;
Torrent, Maties;
Grimalt, Joan O.;
de Cid, Rafael

Publication type:

Article

Association between the NMDA glutamate receptor GRIN2B gene and obsessive-compulsive disorder.

Published in:

Journal of Psychiatry & Neuroscience, 2012, v. 37, n. 4, p. 273, doi. 10.1503/jpn.110109

By:

Alonso, Pino;
Gratacós, Mónica;
Segalàs, Cinto;
Escaramís, Georgia;
Real, Eva;
Bayés, Mónica;
Labad, Javier;
López-Solà, Clara;
Estivill, Xavier;
Menchón, José M.

Publication type:

Article

Relationship between genome and epigenome - challenges and requirements for future research.

Published in:

BMC Genomics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2164-15-487

By:

Almouzni, Geneviève;
Altucci, Lucia;
Amati, Bruno;
Ashley, Neil;
Baulcombe, David;
Beaujean, Nathalie;
Bock, Christoph;
Bongcam-Rudloff, Erik;
Bousquet, Jean;
Braun, Sigurd;
de Paillerets, Brigitte Bressac;
Bussemakers, Marion;
Clarke, Laura;
Conesa, Ana;
Estivill, Xavier;
Fazeli, Alireza;
Grgurević, Neža;
Gut, Ivo;
Heijmans, Bastiaan T.;
Hermouet, Sylvie

Publication type:

Article

A highly expressed miR-101 isomiR is a functional silencing small RNA.

Published in:

BMC Genomics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2164-14-104

By:

Llorens, Franc;
Bañez-Coronel, Mónica;
Pantano, Lorena;
del Río, Jose Antonio;
Ferrer, Isidre;
Estivill, Xavier;
Martí, Eulàlia

Publication type:

Article

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

Published in:

BMC Genomics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2164-14-261

By:

Bassaganyas, Laia;
Riveira-Muñoz, Eva;
García-Aragonés, Manel;
González, Juan R.;
Cáceres, Mario;
Armengol, Lluís;
Estivill, Xavier

Publication type:

Article

Cancer: When catastrophe strikes a cell.

Published in:

Nature, 2011, v. 470, n. 7335, p. 476, doi. 10.1038/470476a

By:

Tubio, Jose M. C.;
Estivill, Xavier

Publication type:

Article

Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genome.

Published in:

Human Genetics, 2006, v. 120, n. 2, p. 270, doi. 10.1007/s00439-006-0217-y

By:

Goidts, Violaine;
Cooper, David;
Armengol, Lluis;
Schempp, Werner;
Conroy, Jeffrey;
Estivill, Xavier;
Nowak, Norma;
Hameister, Horst;
Kehrer-Sawatzki, Hildegard

Publication type:

Article

Identification of large-scale human-specific copy number differences by inter-species array comparative genomic hybridization.

Published in:

Human Genetics, 2006, v. 119, n. 1/2, p. 185, doi. 10.1007/s00439-005-0130-9

By:

Goidts, Violaine;
Armengol, Lluis;
Schempp, Werner;
Conroy, Jeffrey;
Nowak, Norma;
Müller, Stefan;
Cooper, David N.;
Estivill, Xavier;
Enard, Wolfgang;
Szamalek, Justyna M.;
Hameister, Horst;
Kehrer-Sawatzki, Hildegard

Publication type:

Article

Human Molecular Genetics, 3rd edition, by Tom Strachan, Andrew Read. Garland Science, ISBN 0-8153-4184-9, paperback.

Published in:

2005

By:

Estivill, Xavier

Publication type:

Book Review

Small marker chromosomes in two patients with segmental aneusomy for proximal 17p.

Published in:

Human Genetics, 2004, v. 115, n. 1, p. 1

By:

Shaw, Christine J.;
Stankiewicz, Pawel;
Bien-Willner, Gabriel;
Bello, Scott C.;
Shaw, Chad A.;
Carrera, Marta;
Perez Jurado, Luis;
Estivill, Xavier;
Lupski, James R.

Publication type:

Article

Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression.

Published in:

Human Genetics, 2002, v. 111, n. 2, p. 190, doi. 10.1007/s00439-002-0750-2

By:

Thönnissen, Eva;
Rabionet, Raquel;
Arbonès, Maria;
Estivill, Xavier;
Willecke, Klaus;
Ott, Thomas

Publication type:

Article

Genomic organization, chromosomal localization, alternative splicing, and isoforms of the human synaptosome-associated protein-23 gene implicated in vesicle-membrane fusion processes.

Published in:

Human Genetics, 2001, v. 108, n. 3, p. 211, doi. 10.1007/s004390100480

By:

Lazo, Pedro A.;
Nadal, Marga;
Ferrer, Milagros;
Area, Estela;
Hernández-Torres, Javier;
Nabokina, Svetlana M.;
Mollinedo, Faustino;
Estivill, Xavier

Publication type:

Article

A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals.

Published in:

Human Genetics, 2000, v. 106, n. 2, p. 172, doi. 10.1007/s004390051025

By:

Bombieri, Cristina;
Giorgi, Silvia;
Carles, Soukeyna;
de Cid, Rafael;
Belpinati, Francesca;
Tandoi, Caterina;
Pallares-Ruiz, Nathalie;
Lazaro, Conxi;
Ciminelli, Bianca Maria;
Romey, Marie-Catherine;
Casals, Teresa;
Pompei, Fiorenza;
Gandini, Giorgio;
Claustres, Mireille;
Estivill, Xavier;
Pignatti, Pier Franco;
Modiano, Guido

Publication type:

Article

Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.

Published in:

Human Genetics, 2000, v. 106, n. 1, p. 40, doi. 10.1007/s004390051007

By:

Rabionet, Raquel;
Zelante, Leopoldo;
López-Bigas, Núria;
D'Agruma, Leonardo;
Melchionda, Salvatore;
Restagno, Gabrielle;
Arbonés, Maria Lourdes;
Gasparini, Paolo;
Estivill, Xavier

Publication type:

Article

Differential Association of Circadian Genes with Mood Disorders: CRY1 and NPAS2 are Associated with Unipolar Major Depression and CLOCK and VIP with Bipolar Disorder.

Published in:

Neuropsychopharmacology, 2010, v. 35, n. 6, p. 1279, doi. 10.1038/npp.2009.230

By:

Soria, ,3Virginia;
Martínez-Amorós, Èrika;
Escaramís, Geòrgia;
Valero, Joaquín;
Pérez-Egea, Rosario;
García, Cecilia;
Gutiérrez-Zotes, Alfonso;
Puigdemont, Dolors;
Bayés, Mònica;
Crespo, José M.;
Martorell, Lourdes;
Vilella, Elisabet;
Labad, Antonio;
Vallejo, Julio;
Pérez, Víctor;
Menchón, José M.;
Estivill, Xavier;
Gratacòs, Mònica;
Urretavizcaya, Mikel

Publication type:

Article

PTOV1, a novel protein overexpressed in prostate cancer containing a new class of protein homology blocks.

Published in:

Oncogene, 2001, v. 20, n. 12, p. 1455, doi. 10.1038/sj.onc.1204233

By:

Benedit, Patricia;
Paciucci, Rosanna;
Thomson, Timothy M;
Valeri, Marta;
Nadal, Marga;
Càceres, Carme;
de Torres, Inés;
Estivill, Xavier;
Lozano, Juan José;
Morote, Joan;
Reventós, Jaume

Publication type:

Article

Analysis of incidental findings in Qatar genome participants reveals novel functional variants in LMNA and DSP.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 16, p. 2796, doi. 10.1093/hmg/ddac073

By:

Elfatih, Amal;
Da'as, Sahar I;
Abdelrahman, Doua;
Mbarek, Hamdi;
Mohammed, Idris;
Hasan, Waseem;
Fakhro, Khalid A;
Consortium, for the The Qatar Genome Program Research;
Estivill, Xavier;
Mifsud, Borbala

Publication type:

Article

Retrovirus-mediated transfer of the herpes simplex virus thymidine kinase and connexin26 genes in pancreatic cells results in variable efficiency on the bystander killing: Implications for gene therapy.

Published in:

International Journal of Cancer, 2001, v. 94, n. 1, p. 81, doi. 10.1002/ijc.1429

By:

Carrió, Meritxell;
Mazo, Adela;
López-Iglesias, Carmen;
Estivill, Xavier;
Fillat, Cristina

Publication type:

Article

Retention of the CDKN2A locus and low frequency of point mutations in primary and metastasic cutaneous malignant melanoma.

Published in:

International Journal of Cancer, 1998, v. 76, n. 3, p. 312, doi. 10.1002/(SICI)1097-0215(19980504)76:3<312::AID-IJC4>3.0.CO;2-Y

By:

Ruiz, Anna;
Puig, Susana;
Lynch, Michael;
Castel, Teresa;
Estivill, Xavier

Publication type:

Article

LRRN6A/LERN1 (leucine-rich repeat neuronal protein 1), a novel gene with enriched expression in limbic system and neocortex.

Published in:

European Journal of Neuroscience, 2003, v. 18, n. 12, p. 3167, doi. 10.1111/j.1460-9568.2003.03003.x

By:

Carim‐Todd, Laura;
Escarceller, Mònica;
Estivill, Xavier;
Sumoy, Lauro

Publication type:

Article

A patient with autistic disorder and a 20/22 chromosomal translocation.

Published in:

1998

By:

Carratalá, Francisco;
Galán, Francisco;
Moya, Manuel;
Estivill, Xavier;
Pritchard, Melanie A;
Llevadot, Roser;
Nadal, Marga;
Gratacòs, Monica;
Carratalá, F;
Galán, F;
Moya, M;
Estivill, X;
Pritchard, M A;
Llevadot, R;
Nadal, M;
Gratacòs, M

Publication type:

journal article

Genome assembly comparison identifies structural variants in the human genome.

Published in:

Nature Genetics, 2006, v. 38, n. 12, p. 1413, doi. 10.1038/ng1921

By:

Khaja, Razi;
Zhang, Junjun;
MacDonald, Jeffrey R.;
Yongshu He;
Joseph-George, Ann M.;
Wei, John;
Rafiq, Muhammad A.;
Cheng Qian;
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

Publication type:

Article

Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas.

Published in:

Nature Genetics, 2001, v. 28, n. 3, p. 294, doi. 10.1038/90148

By:

Serra, Eduard;
Rosenbaum, Thorsten;
Nadal, Marga;
Winner, Ursula;
Ars, Elisabet;
Estivill, Xavier;
Lázaro, Conxi

Publication type:

Article

Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus.

Published in:

Nature Genetics, 1999, v. 23, n. 1, p. 16, doi. 10.1038/12612

By:

Grifa, Anna;
Wagner, Carsten A.;
D'Ambrosio, Lucrezia;
Melchionda, Salvatore;
Bernardi, Francesco;
Lopez-Bigas, Nuria;
Rabionet, Raquel;
Arbones, Mariona;
Monica, Matteo Della;
Estivill, Xavier;
Zelante, Leopoldo;
Lang, Florian;
Gasparini, Paolo

Publication type:

Article

Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (b<sup>o,+</sup>AT) of rBAT.

Published in:

Nature Genetics, 1999, v. 23, n. 1, p. 52

By:

Feliubadaló, Lídia;
Font, Mariona;
Purroy, Jesús;
Rousaud, Ferran;
Estivill, Xavier;
Nunes, Virginia;
Golomb, Eliahu;
Centola, Michael;
Aksentijevich, Ivona;
Kreiss, Yitshak;
Goldman, Boleslaw;
Pras, Mordechai;
Kastner, Daniel L.;
Pras, Elon;
Gasparini, Paolo;
Bisceglia, Luigi;
Beccia, Ercole;
Gallucci, Michele;
de Sanctis, Luisa

Publication type:

Article

DNA Hypomethylation at ALOX12 Is Associated with Persistent Wheezing in Childhood.

Published in:

American Journal of Respiratory & Critical Care Medicine, 2012, v. 185, n. 9, p. 937, doi. 10.1164/rccm.201105-0870OC

By:

Morales, Eva;
Bustamante, Mariona;
Vilahur, Nadia;
Escaramis, Georgia;
Montfort, Magda;
de Cid, Rafael;
Garcia-Esteban, Raquel;
Torrent, Maties;
Estivill, Xavier;
Grimalt, Joan O.;
Sunyer, Jordi

Publication type:

Article

Protein C deficiency: Identification of a novel two-base pair insertion and two point mutations in exon 7 of the protein C gene in Spanish families.

Published in:

Human Mutation, 1992, v. 1, n. 5, p. 428, doi. 10.1002/humu.1380010514

By:

Soria, José Manuel;
Fontcuberta, Jordi;
Borrell, Montserrat;
Estivill, Xavier;
Sala, Núria

Publication type:

Article

Identification of a frameshift mutation (1609delCA) in exon 10 of the CFTR gene in seven Spanish cystic fibrosis patients.

Published in:

Human Mutation, 1992, v. 1, n. 1, p. 75, doi. 10.1002/humu.1380010113

By:

Chillón, Miguel;
Palacio, Ana;
Nunes, Virginia;
Casals, Teresa;
Giménez, Javier;
Estivill, Xavier

Publication type:

Article

VAL66MET BDNF GENOTYPES IN MELANCHOLIC DEPRESSION: EFFECTS ON BRAIN STRUCTURE AND TREATMENT OUTCOME.

Published in:

Depression & Anxiety (1091-4269), 2013, v. 30, n. 3, p. 225, doi. 10.1002/da.22025

By:

Cardoner, Narcís;
Soria, Virginia;
Gratacòs, Mònica;
Hernández‐Ribas, Rosa;
Pujol, Jesús;
López‐Solà, Marina;
Deus, Joan;
Urretavizcaya, Mikel;
Estivill, Xavier;
Menchón, José M.;
Soriano‐Mas, Carles

Publication type:

Article

Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.

Published in:

Journal of Molecular Medicine, 2002, v. 80, n. 2, p. 124, doi. 10.1007/s00109-001-0310-6

By:

Wattenhofer, Marie;
Di Iorio, Mario;
Rabionet, Raquel;
Dougherty, Loretta;
Pampanos, Andreas;
Schwede, Torsten;
Montserrat-Sentis, Barbara;
Arbones, Maria;
Iliades, Theofilos;
Pasquadibisceglie, Annamaria;
D'Amelio, Marcello;
Alwan, Sura;
Rossier, Colette;
Dahl, Hans-Henrik M.;
Petersen, Michael B.;
Estivill, Xavier;
Gasparini, Paolo;
Scott, Hamish S.;
Antonarakis, Stylianos E.

Publication type:

Article

Large de novo deletion in chromosome 12 affecting the PAH, IGF1, ASCL1, and TRA1 genes.

Published in:

Journal of Molecular Medicine, 2001, v. 78, n. 12, p. 721, doi. 10.1007/s001090000160

By:

Mallolas, Judith;
Vilaseca, M. Antònia;
Pavia, Carlos;
Lambruschini, Nilo;
Cambra, Francisco José;
Campistol, Jaume;
Gómez, David;
Carrió, Ana;
Estivill, Xavier;
Milà, Montserrat

Publication type:

Article

Cloning of S4D-SRCRB, a new soluble member of the group B scavenger receptor cysteine-rich family (SRCR-SF) mapping to human Chromosome 7q11.23.

Published in:

Immunogenetics, 2002, v. 54, n. 9, p. 621, doi. 10.1007/s00251-002-0507-z

By:

Padilla, Olga;
Pujana, Miguel Angel;
López-de la Iglesia, Agustí;
Gimferrer, Idoia;
Arman, Mònica;
Vilà, Josep;
Places, Lourdes;
Vives, Jordi;
Estivill, Xavier;
Lozano, Francisco

Publication type:

Article

The Circulating Transcriptome as a Source of Biomarkers for Melanoma.

Published in:

Cancers, 2019, v. 11, n. 1, p. 70, doi. 10.3390/cancers11010070

By:

Solé, Carla;
Tramonti, Daniela;
Schramm, Maike;
Goicoechea, Ibai;
Armesto, María;
Hernandez, Luiza I.;
Manterola, Lorea;
Fernandez-Mercado, Marta;
Mujika, Karmele;
Tuneu, Anna;
Jaka, Ane;
Tellaetxe, Maitena;
Friedländer, Marc R.;
Estivill, Xavier;
Piazza, Paolo;
Ortiz-Romero, Pablo L.;
Middleton, Mark R.;
Lawrie, Charles H.

Publication type:

Article