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Xavier Estivill

Research Profile

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Physiology

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Spain

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Narcís Cardoner; Joan Deus; Xavier Estivill; Mònica Gratacòs; Rosa Hernández-Ribas; Marina López-Solà; José M Menchón; Jesús Pujol; Virginia Soria; Mikel Urretavizcaya; Carles Soriano-Mas
Val66met BDNF genotypes in melancholic depression: effects on brain structure and treatment outcome.
Laia Rodriguez-Revenga; Javier Vidal; Josep Blanch-Rubió; Jordi Carbonell; Antonio Collado; Elisa Docampo; Dei M Elurbe; Xavier Estivill; Irene Madrigal; Montserrat Mila
Screening for the presence of FMR1 premutation alleles in women with fibromyalgia.
E Docampo; J M Argimon-Pallàs; E Bruguera; C Cabezas; M Casas; Mònica Gratacòs; G Nieva; D Puente; Raquel Rabionet; Marta Ribasés; C Sánchez-Mora; Xavier Estivill
Association of Neurexin 3 polymorphisms with smoking behavior.

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All Publications

2013: Narcís Cardoner; Joan Deus; Xavier Estivill; Mònica Gratacòs; Rosa Hernández-Ribas; Marina López-Solà; José M Menchón; Jesús Pujol; Virginia Soria; Mikel Urretavizcaya; Carles Soriano-Mas
Val66met BDNF genotypes in melancholic depression: effects on brain structure and treatment outcome.
Depression and anxiety 2013;30(3):225-33.
2013: Laia Rodriguez-Revenga; Javier Vidal; Josep Blanch-Rubió; Jordi Carbonell; Antonio Collado; Elisa Docampo; Dei M Elurbe; Xavier Estivill; Irene Madrigal; Montserrat Mila
Screening for the presence of FMR1 premutation alleles in women with fibromyalgia.
Gene 2013;512(2):305-8.
2012: E Docampo; J M Argimon-Pallàs; E Bruguera; C Cabezas; M Casas; Mònica Gratacòs; G Nieva; D Puente; Raquel Rabionet; Marta Ribasés; C Sánchez-Mora; Xavier Estivill
Association of Neurexin 3 polymorphisms with smoking behavior.
Genes, brain, and behavior 2012;11(6):704-11.
2012: Xavier Gallego; Mònica Gratacòs; Rafael Maldonado; Michael J Marks; Susanna Molas; Patricia Murtra; Martí Pumarola; Noemí Robles; Josefa Sabrià; Alejandro Amador-Arjona; Lluis Armengol; Roberto Cabrera; Xavier Estivill; Rubén D Fernández-Montes; Mara Dierssen
Overexpression of the CHRNA5/A3/B4 genomic cluster in mice increases the sensitivity to nicotine and modifies its reinforcing effects.
Amino acids 2012;43(2):897-909.
2012: Pino Alonso; Mónica Bayés; Georgia Escaramís; Xavier Estivill; Mónica Gratacós; Javier Labad; Clara López-Solà; Eva Real; Cinto Segalàs; José M Menchón
Association between the NMDA glutamate receptor GRIN2B gene and obsessive-compulsive disorder.
Journal of psychiatry & neuroscience : JPN 2012;37(4):273-81.
2012: Eva Morales; Maties Torrent; Nadia Vilahur; Mariona Bustamante; Rafael de Cid; Georgia Escaramis; Xavier Estivill; Raquel Garcia-Esteban; Joan O Grimalt; Magda Montfort; Jordi Sunyer
DNA hypomethylation at ALOX12 is associated with persistent wheezing in childhood.
American journal of respiratory and critical care medicine 2012;185(9):937-43.
2012: Josep M Mercader; Lauro Sumoy; Joana Visa; Mads Bak; Mara Dierssen; Fernando Fernández-Aranda; Juan R González; Mònica Gratacòs; Sakari Kauppinen; Juanjo Lozano; Xavier Estivill
Aberrant brain microRNA target and miRISC gene expression in the anx/anx anorexia mouse model.
Gene 2012;497(2):181-90.
2012: J L Santos; Ester Saus; S V Smalley; G Alberti; LUIS RODRIGO CATALDO; Mònica Gratacòs; J Parada; Xavier Estivill
Copy number polymorphism of the salivary amylase gene: implications in human nutrition research.
Journal of nutrigenetics and nutrigenomics 2012;5(3):117-31.
2012: Timo D Müller; Benedetta Nacmias; Marta Ribasés; valdo ricca; Helmut Schäfer; André Scherag; Susann Scherag; Sandro Sorbi; Heinz-Erich Wichmann; Thomas Illig; Ulrike Lehmkuhl; Laura Bellodi; Maria C Cavallini; Elena Cellini; Daniela Di Bella; Stefan Ehrlich; Stefano Erzegovesi; Xavier Estivill; Fernando Fernández-Aranda; Manfred Fichter; Christian Fleischhaker; Harald Grallert; Monica Gratacòs; Brandon H Greene; Johannes Hebebrand; Beate Herpertz-Dahlmann; Wolfgang Herzog; Anke Hinney
Fat mass and obesity-associated gene (FTO) in eating disorders: evidence for association of the rs9939609 obesity risk allele with bulimia nervosa and anorexia nervosa.
Obesity facts 2012;5(3):408-19.
2012: Mónica Bañez-Coronel; Xavier Estivill; Isidre Ferrer; Manuel Guzmán; Birgit Kagerbauer; Elisabet Mateu-Huertas; Lorena Pantano; Silvia Porta; Eulàlia Martí
A pathogenic mechanism in Huntington's disease involves small CAG-repeated RNAs with neurotoxic activity.
PLoS genetics 2012;8(2):e1002481.
2011: Lorena Pantano; Xavier Estivill; Eulalia Martí
A non-biased framework for the annotation and classification of the non-miRNA small RNA transcriptome.
Bioinformatics (Oxford, England) 2011;27(22):3202-3.
2011: Elena Miñones-Moyano; Silvia Porta; Raquel Rabionet; Georgia Escaramís; Yolanda Espinosa-Parrilla; Xavier Estivill; Isidre Ferrer; Susana Iraola; Birgit Kagerbauer; Eulàlia Martí
MicroRNA profiling of Parkinson's disease brains identifies early downregulation of miR-34b/c which modulate mitochondrial function.
Human molecular genetics 2011;20(15):3067-78.
2011: S Iraola-Guzmán; Xavier Estivill; Raquel Rabionet
DNA methylation in neurodegenerative disorders: a missing link between genome and environment?
Clinical genetics 2011;80(1):1-14.
2011: Elisa Docampo; Georgia Escaramís; Francisco J Blanco; Angel Carracedo; Rafael de Cid; José L Fernández-Sueiro; Emiliano Giardina; Miguel A González-Gay; Ulrike Hüffmeier; M Pilar Lisbona; Javier Martín; Joan Maymó; Giuseppe Novelli; Carlo Perricone; Raquel Rabionet; André Reis; Eva Riveira-Muñoz; Xavier Estivill
Deletion of LCE3C and LCE3B is a susceptibility factor for psoriatic arthritis: a study in Spanish and Italian populations and meta-analysis.
Arthritis and rheumatism 2011;63(7):1860-5.
2011: Pino Alonso; Mònica Gratacòs; C Segalàs; G Escaramís; E Real; M Bayés; Javier Labad; A Pertusa; Julio Vallejo; Xavier Estivill; José M Menchón
Variants in estrogen receptor alpha gene are associated with phenotypical expression of obsessive-compulsive disorder.
Psychoneuroendocrinology 2011;36(4):473-83.
2011: Margarita Muiños-Gimeno; Yolanda Espinosa-Parrilla; Monica Guidi; Birgit Kagerbauer; Tessa Sipilä; Eduard Maron; Kristi Pettai; Laura Kananen; Ricard Navinés; Rocío Martín-Santos; Mònica Gratacòs; Andres Metspalu; Iiris Hovatta; Xavier Estivill
Human microRNAs miR-22, miR-138-2, miR-148a, and miR-488 are associated with panic disorder and regulate several anxiety candidate genes and related pathways.
Biological psychiatry 2011;69(6):526-33.
2011: Jose M C Tubio; Xavier Estivill
Cancer: When catastrophe strikes a cell.
Nature 2011;470(7335):476-7.
2011: Eva Morales; Stefano Guerra; Raquel García-Esteban; Mònica Guxens; Mar Alvarez-Pedrerol; Mariona Bustamante; Xavier Estivill; Josep M Antó; Jordi Sunyer
Maternal C-reactive protein levels in pregnancy are associated with wheezing and lower respiratory tract infections in the offspring.
American journal of obstetrics and gynecology 2011;204(2):164.e1-9.
2011: Eva Morales; Mariona Bustamante; Juan Ramon Gonzalez; Mònica Guxens; Maties Torrent; Michelle Mendez; Raquel Garcia-Esteban; Jordi Julvez; Joan Forns; Martine Vrijheid; Carolina Molto-Puigmarti; Carmen Lopez-Sabater; Xavier Estivill; Jordi Sunyer
Genetic variants of the FADS gene cluster and ELOVL gene family, colostrums LC-PUFA levels, breastfeeding, and child cognition.
PloS one 2011;6(2):e17181.
2010: Eulàlia Martí; Lorena Pantano; Mónica Bañez-Coronel; Franc Llorens; Elena Miñones-Moyano; Silvia Porta; Lauro Sumoy; Isidre Ferrer; Xavier Estivill
A myriad of miRNA variants in control and Huntington's disease brain regions detected by massively parallel sequencing.
Nucleic acids research 2010;38(20):7219-35.
2010: Ester Saus; Virginia Soria; Geòrgia Escaramís; Francesca Vivarelli; José M Crespo; Birgit Kagerbauer; José Manuel Menchón; Mikel Urretavizcaya; Mònica Gratacòs; Xavier Estivill
Genetic variants and abnormal processing of pre-miR-182, a circadian clock modulator, in major depression patients with late insomnia.
Human molecular genetics 2010;19(20):4017-25.
2010: Ester Saus; V Soria; G Escaramís; J M Crespo; Joaquin Valero; A Gutiérrez-Zotes; L Martorell; Elisabet Vilella; J M Menchón; Xavier Estivill; Mònica Gratacòs; Mikel Urretavizcaya
A haplotype of glycogen synthase kinase 3β is associated with early onset of unipolar major depression.
Genes, brain, and behavior 2010;9(7):799-807.
2010: Ester Saus; Anna Brunet; Lluís Armengol; Pino Alonso; José M Crespo; Fernando Fernández-Aranda; Miriam Guitart; Rocío Martín-Santos; José M Menchón; Ricard Navinés; Virginia Soria; Marta Torrens; Mikel Urretavizcaya; Vicenç Vallès; Mònica Gratacòs; Xavier Estivill
Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients.
Journal of psychiatric research 2010;44(14):971-8.
2010: 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
Role of the neurotrophin network in eating disorders' subphenotypes: body mass index and age at onset of the disease.
Journal of psychiatric research 2010;44(13):834-40.
2010: B Rodríguez-Santiago; A Brunet; B Sobrino; C Serra-Juhé; R Flores; Lluis Armengol; E Vilella; E Gabau; M Guitart; R Guillamat; L Martorell; Joaquin Valero; A Gutiérrez-Zotes; Antonio Labad; A Carracedo; Xavier Estivill; Luis A Pérez Jurado
Association of common copy number variants at the glutathione S-transferase genes and rare novel genomic changes with schizophrenia.
Molecular psychiatry 2010;15(10):1023-33.
2010: Jonas Donner; Rita Haapakoski; Sini Ezer; Erik Melén; sami pirkola; Mònica Gratacòs; Marco Zucchelli; Francesca Anedda; Lovisa E Johansson; Cilla Söderhäll; Christina Orsmark-Pietras; Jaana Suvisaari; Rocío Martín-Santos; Marta Torrens; Kaisa Silander; Joseph D Terwilliger; Magnus Wickman; Göran Pershagen; Jouko Lönnqvist; Leena Peltonen; Xavier Estivill; Mauro D'Amato; Juha Kere; Harri Alenius; Iiris Hovatta
Assessment of the neuropeptide S system in anxiety disorders.
Biological psychiatry 2010;68(5):474-83.
2010: Virginia Soria; Erika Martínez-Amorós; Geòrgia Escaramís; Joaquin Valero; José M Crespo; Alfonso Gutiérrez-Zotes; Mònica Bayés; Lourdes Martorell; Elisabet Vilella; Xavier Estivill; José M Menchón; Mònica Gratacòs; Mikel Urretavizcaya
Resequencing and association analysis of arylalkylamine N-acetyltransferase (AANAT) gene and its contribution to major depression susceptibility.
Journal of pineal research 2010;49(1):35-44.
2010: Judith G M Bergboer; Patrick L J M Zeeuwen; Alan D Irvine; Stephan Weidinger; Emiliano Giardina; Giuseppe Novelli; Martin Den Heijer; Elke Rodriguez; Thomas Illig; Eva Riveira-Munoz; Linda E Campbell; Jess Tyson; Emma N Dannhauser; Gráinne M O'Regan; Elena Galli; Norman Klopp; Gerard H Koppelman; Natalija Novak; Xavier Estivill; W H Irwin McLean; Dirkje S Postma; John A L Armour; Joost Schalkwijk
Deletion of Late Cornified Envelope 3B and 3C genes is not associated with atopic dermatitis.
The Journal of investigative dermatology 2010;130(8):2057-61.
2010: Javier Costas; Mònica Gratacòs; Geòrgia Escaramís; Rocío Martín-Santos; Yolanda De diego Otero; Enrique Baca-Garcia; Francesca Canellas; Xavier Estivill; Roser Guillamat; Miriam Guitart; Alfonso Gutiérrez-Zotes; Luisa García-Esteve; Fermin Mayoral; María Dolores Moltó; Christopher Phillips; Miquel Roca; Angel Carracedo; Elisabet Vilella; Julio Sanjuán
Association study of 44 candidate genes with depressive and anxiety symptoms in post-partum women.
Journal of psychiatric research 2010;44(11):717-24.
2010: Francina Fonseca; Mònica Gratacòs; Geòrgia Escaramís; Rafael de Cid; Rocío Martín-Santos; Emilio Fernández-Espejo; Xavier Estivill; Marta Torrens
Response to methadone maintenance treatment is associated with the MYOCD and GRM6 genes.
Molecular diagnosis & therapy 2010;14(3):171-8.
2010: Elisa Docampo; Raquel Rabionet; Eva Riveira-Muñoz; Georgia Escaramís; Antonio Julià; Sara Marsal; José Ezequiel Martín; Miguel Angel González-Gay; Alejandro Balsa; Enrique Raya; Javier Martín; Xavier Estivill
Deletion of the late cornified envelope genes, LCE3C and LCE3B, is associated with rheumatoid arthritis.
Arthritis and rheumatism 2010;62(5):1246-51.
2010: Virginia Soria; Erika Martínez-Amorós; Geòrgia Escaramís; Joaquin Valero; Rosario Pérez-Egea; Cecilia García; Alfonso Gutiérrez-Zotes; Dolors Puigdemont; Mònica Bayés; José M Crespo; Lourdes Martorell; Elisabet Vilella; Antonio Labad; Julio Vallejo; Víctor Pérez; José M Menchón; Xavier Estivill; Mònica Gratacòs; Mikel Urretavizcaya
Differential association of circadian genes with mood disorders: CRY1 and NPAS2 are associated with unipolar major depression and CLOCK and VIP with bipolar disorder.
Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology 2010;35(6):1279-89.
2010: J M Mercader; Fernando Fernández-Aranda; Mònica Gratacòs; Zaida Aguera; Laura Forcano; Marta Ribasés; Cynthia Villarejo; Xavier Estivill
Correlation of BDNF blood levels with interoceptive awareness and maturity fears in anorexia and bulimia nervosa patients.
Journal of neural transmission (Vienna, Austria : 1996) 2010;117(4):505-12.
2010: Ulrike Hüffmeier; Judith G M Bergboer; Tim Becker; John A Armour; Heiko Traupe; Xavier Estivill; Eva Riveira-Munoz; Rotraut Mössner; Kristian Reich; Werner Kurrat; Thomas F Wienker; Joost Schalkwijk; Patrick L J M Zeeuwen; André Reis
Replication of LCE3C-LCE3B CNV as a risk factor for psoriasis and analysis of interaction with other genetic risk factors.
The Journal of investigative dermatology 2010;130(4):979-84.
2010: Lorena Pantano; Xavier Estivill; Eulàlia Martí
SeqBuster, a bioinformatic tool for the processing and analysis of small RNAs datasets, reveals ubiquitous miRNA modifications in human embryonic cells.
Nucleic acids research 2010;38(5):e34.
2010: Garikoitz Azkona; A Amador-Arjona; C Obradors-Tarragó; Emilio Varea; G Arqué; R Pinacho; C Fillat; Susana de la Luna; Xavier Estivill; Mara Dierssen
Characterization of a mouse model overexpressing beta-site APP-cleaving enzyme 2 reveals a new role for BACE2.
Genes, brain, and behavior 2010;9(2):160-72.
2010: Rafael de Cid; Maria D Ramos; Luís Aparisi; Cecilia García; Josefina Mora; Xavier Estivill; Antoni Farré; Teresa Casals
Independent contribution of common CFTR variants to chronic pancreatitis.
Pancreas 2010;39(2):209-15.
2010: Margarita Muiños-Gimeno; Magda Montfort; Mònica Bayés; Xavier Estivill; Yolanda Espinosa-Parrilla
Design and evaluation of a panel of single-nucleotide polymorphisms in microRNA genomic regions for association studies in human disease.
European journal of human genetics : EJHG 2010;18(2):218-26.
2010: Vincente Pedraza; Jose A Gomez-Capilla; Georgia Escaramis; Carolina Gomez; Pablo Torné; Jose M Rivera; Angel Gil; Patricia Araque; Nicolas Olea; Xavier Estivill; M Esther Fárez-Vidal
Gene expression signatures in breast cancer distinguish phenotype characteristics, histologic subtypes, and tumor invasiveness.
Cancer 2010;116(2):486-96.
2010: Enrique Baca-Garcia; Concepción Vaquero-Lorenzo; M Mercedes Perez-Rodriguez; Mònica Gratacòs; Mònica Bayés; Ricardo Santiago-Mozos; Jose Miguel Leiva-Murillo; Mario de Prado-Cumplido; Antonio Artes-Rodriguez; Antonio Ceverino; Carmen Diaz-Sastre; Pablo Fernandez-Navarro; Javier Costas; Jose Fernandez-Piqueras; Montserrat Diaz-Hernandez; Jose de Leon; Enrique Baca Baldomero; Jeronimo Saiz-Ruiz; J John Mann; Ramin V Parsey; Angel Carracedo; Xavier Estivill; Maria A Oquendo
Nucleotide variation in central nervous system genes among male suicide attempters.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010;153B(1):208-13.
2010: Monica Guidi; Margarita Muiños-Gimeno; Birgit Kagerbauer; Eulàlia Martí; Xavier Estivill; Yolanda Espinosa-Parrilla
Overexpression of miR-128 specifically inhibits the truncated isoform of NTRK3 and upregulates BCL2 in SH-SY5Y neuroblastoma cells.
BMC molecular biology 2010;11():95.
2009: 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 M Antó; Matthias Wjst; Joachim Heinrich; Xavier Estivill; Manolis Kogevinas
Traffic-related air pollution, oxidative stress genes, and asthma (ECHRS).
Environmental health perspectives 2009;117(12):1919-24.
2009: Marta Ribasés; Rosa Bosch; Amaia Hervás; Josep Antoni Ramos-Quiroga; Cristina Sánchez-Mora; Anna Bielsa; Xavier Gastaminza; Sílvia Guijarro-Domingo; Mariana Nogueira; Núria Gómez-Barros; Susanne Kreiker; Silke Gross-Lesch; Christian P Jacob; Klaus-Peter Lesch; Andreas Reif; Stefan Johansson; Kerstin J Plessen; Per M Knappskog; Jan Haavik; Xavier Estivill; Miguel Casas; Mònica Bayés; Bru Cormand
Case-control study of six genes asymmetrically expressed in the two cerebral hemispheres: association of BAIAP2 with attention-deficit/hyperactivity disorder.
Biological psychiatry 2009;66(10):926-34.
2009: Miroslava Ogorelkova; Arcadi Navarro; Francesca Vivarelli; Anna Ramirez-Soriano; Xavier Estivill
Positive selection and gene conversion drive the evolution of a brain-expressed snoRNAs cluster.
Molecular biology and evolution 2009;26(11):2563-71.
2009: Christian Hammer; Johannes Kapeller; Max Endele; Christine Fischer; Johannes Hebebrand; Anke Hinney; Susann Friedel; Mònica Gratacòs; Xavier Estivill; Manfred Fichter; Fernando Fernández-Aranda; Stefan Ehrlich; Gudrun Rappold; Beate Niesler
Functional variants of the serotonin receptor type 3A and B gene are associated with eating disorders.
Pharmacogenetics and genomics 2009;19(10):790-9.
2009: Eva Real; Mònica Gratacòs; Virginia Soria; Geòrgia Escaramís; Pino Alonso; Cinto Segalàs; Mònica Bayés; Rafael de Cid; José M Menchón; Xavier Estivill
A brain-derived neurotrophic factor haplotype is associated with therapeutic response in obsessive-compulsive disorder.
Biological psychiatry 2009;66(7):674-80.
2009: Mònica Gratacòs; Javier Costas; Rafael de Cid; Mònica Bayés; Juan R González; Enrique Baca-Garcia; 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; Joaquin Valero; Elisabet Vilella; Xavier Estivill; Angel Carracedo
Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009;150B(6):808-16.
2009: Mara Dierssen; Yann Herault; Xavier Estivill
Aneuploidy: from a physiological mechanism of variance to Down syndrome.
Physiological reviews 2009;89(3):887-920.
2009: Margarita Muiños-Gimeno; Monica Guidi; Birgit Kagerbauer; Rocío Martín-Santos; Ricard Navinés; Pino Alonso; José M Menchón; Mònica Gratacòs; Xavier Estivill; Yolanda Espinosa-Parrilla
Allele variants in functional MicroRNA target sites of the neurotrophin-3 receptor gene (NTRK3) as susceptibility factors for anxiety disorders.
Human mutation 2009;30(7):1062-71.
2009: Immaculada Ponsa; Josep Antoni Ramos-Quiroga; Marta Ribasés; Rosa Bosch; Anna Bielsa; Maria Teresa Ordeig; Marta Morell; Rosa Miró; Rafael de Cid; Xavier Estivill; Miguel Casas; Mònica Bayés; Bru Cormand; Amaia Hervás
Absence of cytogenetic effects in children and adults with attention-deficit/hyperactivity disorder treated with methylphenidate.
Mutation research 2009;666(1-2):44-9.
2009: Eva Morales; Jordi Sunyer; Jordi Julvez; Francesc Castro-Giner; Xavier Estivill; Maties Torrent; Rafael de Cid
GSTM1 polymorphisms modify the effect of maternal smoking during pregnancy on cognitive functioning in preschoolers.
International journal of epidemiology 2009;38(3):690-7.
2009: Sílvia Beà; Itziar Salaverria; Lluís Armengol; Magda Pinyol; Verónica Fernández; Elena M Hartmann; Pedro Jares; Virginia Amador; Luís Hernández; Alba Navarro; German Ott; Andreas Rosenwald; Xavier Estivill; Elias Campo
Uniparental disomies, homozygous deletions, amplifications, and target genes in mantle cell lymphoma revealed by integrative high-resolution whole-genome profiling.
Blood 2009;113(13):3059-69.
2009: Laura Forcano; Fernando Fernández-Aranda; Eva M Alvarez-Moya; Cynthia M Bulik; Roser Granero; Mònica Gratacòs; Susana Jiménez-Murcia; Isabel Krug; Josep M Mercader; Nadine Riesco; Ester Saus; Juan José Santamaría; Xavier Estivill
Suicide attempts in bulimia nervosa: personality and psychopathological correlates.
European psychiatry : the journal of the Association of European Psychiatrists 2009;24(2):91-7.
2009: Macarena Toll-Riera; Nina Bosch; Nicolás Bellora; Robert Castelo; Lluis Armengol; Xavier Estivill; M Mar Albà
Origin of primate orphan genes: a comparative genomics approach.
Molecular biology and evolution 2009;26(3):603-12.
2009: Rafael de Cid; Eva Riveira-Munoz; Patrick L J M Zeeuwen; Jason Robarge; Wilson Liao; Emma N Dannhauser; Emiliano Giardina; Philip E Stuart; Rajan P 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; Lluis Armengol; Gonçalo Abecasis; James T Elder; Giuseppe Novelli; John A L Armour; Pui-Yan Kwok; Anne Bowcock; Joost Schalkwijk; Xavier Estivill
Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis.
Nature genetics 2009;41(2):211-5.
2009: Anna Brunet; Lluis Armengol; DAMIA HEINE; Jordi Rosell; Manel García-Aragonés; Elisabeth Gabau; Xavier Estivill; Miriam Guitart
BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1.
BMC medical genetics 2009;10():144.
2009: Nina Bosch; Marta Morell; Immaculada Ponsa; Josep Maria Mercader; Lluis Armengol; Xavier Estivill
Nucleotide, cytogenetic and expression impact of the human chromosome 8p23.1 inversion polymorphism.
PloS one 2009;4(12):e8269.
2009: Francesc Castro-Giner; Mariona Bustamante; Juan Ramon González; Manolis Kogevinas; Deborah Jarvis; Joachim Heinrich; Josep-Maria Antó; Matthias Wjst; Xavier Estivill; Rafael de Cid
A pooling-based genome-wide analysis identifies new potential candidate genes for atopy in the European Community Respiratory Health Survey (ECRHS).
BMC medical genetics 2009;10():128.
2009: Lluis Armengol; Sergi Villatoro; Juan R González; Lorena Pantano; Manel García-Aragonés; Raquel Rabionet; Mario Cáceres; Xavier Estivill
Identification of copy number variants defining genomic differences among major human groups.
PloS one 2009;4(9):e7230.
2009: Juan R González; Isaac Subirana; Geòrgia Escaramís; Solymar Peraza; Alejandro Cáceres; Xavier Estivill; Lluis Armengol
Accounting for uncertainty when assessing association between copy number and disease: a latent class model.
BMC bioinformatics 2009;10():172.
2009: Cristina Zadro; Maria Stella Alemanno; Emanuele Bellacchio; Romina Ficarella; Francesca Donaudy; Salvatore Melchionda; Leopoldo Zelante; Raquel Rabionet; Nele Hilgert; Xavier Estivill; Guy Van Camp; Paolo Gasparini; Massimo Carella
Are MYO1C and MYO1F associated with hearing loss?
Biochimica et biophysica acta 2009;1792(1):27-32.
2008: Josep M Mercader; Juanjo Lozano; Lauro Sumoy; Mara Dierssen; Joana Visa; Mònica Gratacòs; Xavier Estivill
Hypothalamus transcriptome profile suggests an anorexia-cachexia syndrome in the anx/anx mouse model.
Physiological genomics 2008;35(3):341-50.
2008: Eva Morales; Jordi Sunyer; Francesc Castro-Giner; Xavier Estivill; Jordi Julvez; Núria Ribas-Fitó; Maties Torrent; Joan O Grimalt; Rafael de Cid
Influence of glutathione S-transferase polymorphisms on cognitive functioning effects induced by p,p'-DDT among preschoolers.
Environmental health perspectives 2008;116(11):1581-5.
2008: Jon Ortiz-Abalia; Ignasi Sahun Abizanda; Xavier Altafaj; Núria Andreu; Xavier Estivill; Mara Dierssen; Cristina Fillat
Targeting Dyrk1A with AAVshRNA attenuates motor alterations in TgDyrk1A, a mouse model of Down syndrome.
American journal of human genetics 2008;83(4):479-88.
2008: Pino Alonso; Mònica Gratacòs; José M Menchón; C Segalàs; Juan R González; Javier Labad; M Bayés; E Real; Rafael de Cid; A Pertusa; G Escaramís; Julio Vallejo; Xavier Estivill
Genetic susceptibility to obsessive-compulsive hoarding: the contribution of neurotrophic tyrosine kinase receptor type 3 gene.
Genes, brain, and behavior 2008;7(7):778-85.
2008: Ester Ballana; Jing Wang; Frédéric Venail; Xavier Estivill; Jean-Luc Puel; Maria L Arbonès; Assumpció Bosch
Efficient and specific transduction of cochlear supporting cells by adeno-associated virus serotype 5.
Neuroscience letters 2008;442(2):134-9.
2008: Claudia Canzonetta; Claire Mulligan; Samuel Deutsch; Sandra Ruf; Aideen O'Doherty; Robert Lyle; Christelle Borel; Nathalie Lin-Marq; Frederic Delom; Jürgen Groet; Felix Schnappauf; Serena De Vita; Sharon Averill; John V Priestley; Joanne E Martin; Janet Shipley; Gareth Denyer; Charles J Epstein; Cristina Fillat; Xavier Estivill; Victor L J Tybulewicz; Elizabeth M C Fisher; Stylianos E Antonarakis; Dean Nizetic
DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome.
American journal of human genetics 2008;83(3):388-400.
2008: Nina Bosch; Geòrgia Escaramís; Josep M Mercader; Lluis Armengol; Xavier Estivill
Analysis of the multi-copy gene family FAM90A as a copy number variant in different ethnic backgrounds.
Gene 2008;420(2):113-7.
2008: Rafael de Cid; F Fonseca; Mònica Gratacòs; Fernando Gutiérrez; R Martín-Santos; Xavier Estivill; M Torrens
BDNF variability in opioid addicts and response to methadone treatment: preliminary findings.
Genes, brain, and behavior 2008;7(5):515-22.
2008: Marta Ribasés; Amaia Hervás; Josep Antoni Ramos-Quiroga; Rosa Bosch; Anna Bielsa; Xavier Gastaminza; Mònica Fernández-Anguiano; Mariana Nogueira; Núria Gómez-Barros; Sergi Valero; Mònica Gratacòs; Xavier Estivill; Miguel Casas; Bru Cormand; Mònica Bayés
Association study of 10 genes encoding neurotrophic factors and their receptors in adult and child attention-deficit/hyperactivity disorder.
Biological psychiatry 2008;63(10):935-45.
2008: 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
Association of NTRK3 and its interaction with NGF suggest an altered cross-regulation of the neurotrophin signaling pathway in eating disorders.
Human molecular genetics 2008;17(9):1234-44.
2008: Xavier Estivill; Nancy J Cox; STEPHEN CHANOCK; Pui-Yan Kwok; Stephen W Scherer; Anthony J Brookes
SNPs meet CNVs in genome-wide association studies: HGV2007 meeting report.
PLoS genetics 2008;4(4):e1000068.
2008: Juan R González; Josep L Carrasco; Frank Dudbridge; Lluis Armengol; Xavier Estivill; Victor Moreno
Maximizing association statistics over genetic models.
Genetic epidemiology 2008;32(3):246-54.
2008: Pino Alonso; Mònica Gratacòs; José M Menchón; Jeronimo Saiz-Ruiz; Cinto Segalàs; Enrique Baca-Garcia; 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
Extensive genotyping of the BDNF and NTRK2 genes define protective haplotypes against obsessive-compulsive disorder.
Biological psychiatry 2008;63(6):619-28.
2008: Franc Llorens; Vanesa Gil; Susana Iraola; Laura Carim-Todd; Eulàlia Martí; Xavier Estivill; Eduardo Soriano; José Antonio del Rio; Lauro Sumoy
Developmental analysis of Lingo-1/Lern1 protein expression in the mouse brain: interaction of its intracellular domain with Myt1l.
Developmental neurobiology 2008;68(4):521-41.
2008: Ester Ballana; Nancy Govea; Rafael de Cid; Cecilia Garcia; Carles Arribas; Jordi Rosell; Xavier Estivill
Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations.
Human mutation 2008;29(2):248-57.
2008: Lluis Armengol; Raquel Rabionet; Xavier Estivill
The emerging role of structural variations in common disorders: initial findings and discovery challenges.
Cytogenetic and genome research 2008;123(1-4):108-17.
2008: Lorena Pantano; Lluis Armengol; Sergi Villatoro; Xavier Estivill
ProSeeK: a web server for MLPA probe design.
BMC genomics 2008;9():573.
2008: Raquel Rabionet; Yolanda Espinosa-Parrilla; Xavier Estivill
Human genetics branches out in Barcelona.
Genome biology 2008;9(8):318.
2008: Juan R González; Josep L Carrasco; Lluis Armengol; Sergi Villatoro; Lluís Jover; Yutaka Yasui; Xavier Estivill
Probe-specific mixed-model approach to detect copy number differences using multiplex ligation-dependent probe amplification (MLPA).
BMC bioinformatics 2008;9():261.
2008: Anna Brunet; Lluis Armengol; Trini Pelaez; Roser Guillamat; Vicenç Vallès; Elisabeth Gabau; Xavier Estivill; Miriam Guitart
Failure to detect the 22q11.2 duplication syndrome rearrangement among patients with schizophrenia.
Behavioral and brain functions : BBF 2008;4():10.
2008: Xavier Sole; Pilar Hernández; Miguel Lopez de Heredia; Lluis Armengol; Benjamín Rodríguez-Santiago; Laia Gómez; Christopher A Maxwell; Fernando Aguiló; Enric Condom; Jesús Abril; Luis A Pérez Jurado; Xavier Estivill; Virginia Nunes; Gabriel Capellá; Stephen B Gruber; Victor Moreno; Miguel Angel Pujana
Genetic and genomic analysis modeling of germline c-MYC overexpression and cancer susceptibility.
BMC genomics 2008;9():12.
2008: Michel Guipponi; Min-Yen Toh; Justin Tan; Daeho Park; Kelly Hanson; Ester Ballana; David Kwong; Ping Z F Cannon; Qingyu Wu; Alex Gout; Mauro Delorenzi; Terence P Speed; Richard J H Smith; Hans-Henrik M Dahl; Michael Petersen; Rohan Teasdale; Xavier Estivill; Woo Jin Park; Hamish Scott
An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss.
Human mutation 2008;29(1):130-41.
2008: Marta Ribasés; Fernando Fernández-Aranda; Mònica Gratacòs; Josep M Mercader; Carolina Casasnovas; Araceli Núñez; Julio Vallejo; Xavier Estivill
Contribution of the serotoninergic system to anxious and depressive traits that may be partially responsible for the phenotypical variability of bulimia nervosa.
Journal of psychiatric research 2008;42(1):50-7.
2007: Nina Bosch; Mario Cáceres; Maria Francesca Cardone; Anna Carreras; Ester Ballana; Mariano Rocchi; Lluis Armengol; Xavier Estivill
Characterization and evolution of the novel gene family FAM90A in primates originated by multiple duplication and rearrangement events.
Human molecular genetics 2007;16(21):2572-82.
2007: Josep M Mercader; Marta Ribasés; Mònica Gratacòs; Juan R González; M Bayés; Rafael de Cid; A Badía; Fernando Fernández-Aranda; Xavier Estivill
Altered brain-derived neurotrophic factor blood levels and gene variability are associated with anorexia and bulimia.
Genes, brain, and behavior 2007;6(8):706-16.
2007: Ignasi Sahun Abizanda; Xavier Gallego; Mònica Gratacòs; P Murtra; R Trullás; R Maldonado; Xavier Estivill; Mara Dierssen
Differential responses to anxiogenic drugs in a mouse model of panic disorder as revealed by Fos immunocytochemistry in specific areas of the fear circuitry.
Amino acids 2007;33(4):677-88.
2007: Xavier Estivill; Lluis Armengol
Copy number variants and common disorders: filling the gaps and exploring complexity in genome-wide association studies.
PLoS genetics 2007;3(10):1787-99.
2007: Fabio Faucz; J Gimenez; Maria Dolors Ramos; L Pereira-Ferrari; Xavier Estivill; Salmo Raskin; Teresa Casals; Lodercio Culpi
Cystic fibrosis in a southern Brazilian population: characteristics of 90% of the alleles.
Clinical genetics 2007;72(3):218-23.
2007: Jacques Beckmann; Xavier Estivill; Stylianos E Antonarakis
Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability.
Nature reviews. Genetics 2007;8(8):639-46.
2007: Mònica Gratacòs; Ignasi Sahun Abizanda; Xavier Gallego; Alejandro Amador-Arjona; Xavier Estivill; Mara Dierssen
Candidate genes for panic disorder: insight from human and mouse genetic studies.
Genes, brain, and behavior 2007;6 Suppl 1():2-23.
2007: Laia Rodriguez-Revenga; Irene Madrigal; L S Alkhalidi; Lluis Armengol; E González; Cèlia Badenas; Xavier Estivill; Montserrat Milà
Contiguous deletion of the NDP, MAOA, MAOB, and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy.
American journal of medical genetics. Part A 2007;143A(9):916-20.
2007: Silvia Porta; Selma A Serra; Meritxell Huch; Miguel A Valverde; Franc Llorens; Xavier Estivill; Maria L Arbonés; Eulàlia Martí
RCAN1 (DSCR1) increases neuronal susceptibility to oxidative stress: a potential pathogenic process in neurodegeneration.
Human molecular genetics 2007;16(9):1039-50.
2007: Mònica Gratacòs; Juan R González; Josep M Mercader; Rafael de Cid; Mikel Urretavizcaya; Xavier Estivill
Brain-derived neurotrophic factor Val66Met and psychiatric disorders: meta-analysis of case-control studies confirm association to substance-related disorders, eating disorders, and schizophrenia.
Biological psychiatry 2007;61(7):911-22.
2007: Juan R González; Lluis Armengol; Xavier Sole; Elisabet Guinó; Josep M Mercader; Xavier Estivill; Victor Moreno
SNPassoc: an R package to perform whole genome association studies.
Bioinformatics (Oxford, England) 2007;23(5):644-5.
2007: Miguel Angel Pujana; Anna Ruiz; Cèlia Badenas; Josep-Anton Puig-Butille; marga nadal; Mitchell Stark; Laia Gómez; Joan Valls; Xavier Sole; 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
Molecular characterization of a t(9;12)(p21;q13) balanced chromosome translocation in combination with integrative genomics analysis identifies C9orf14 as a candidate tumor-suppressor.
Genes, chromosomes & cancer 2007;46(2):155-62.
2007: Josep M Mercader; Fernando Fernández-Aranda; Mònica Gratacòs; Marta Ribasés; A Badía; Cynthia Villarejo; Raquel Solano Cereceda; Juan R González; Julio Vallejo; Xavier Estivill
Blood levels of brain-derived neurotrophic factor correlate with several psychopathological symptoms in anorexia nervosa patients.
Neuropsychobiology 2007;56(4):185-90.
2007: Ester Ballana; Josep Maria Mercader; Nathan Fischel-Ghodsian; Xavier Estivill
MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene.
BMC medical genetics 2007;8():81.
2007: Irene Madrigal; L Rodríguez-Revenga; Lluis Armengol; E González; B Rodriguez; Cèlia Badenas; Aurora Sánchez; F Martínez; Miriam Guitart; I Fernández; José Antonio Arranz; Maria-Isabel Tejada; Luis A Pérez Jurado; Xavier Estivill; Montserrat Milà
X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation.
BMC genomics 2007;8():443.
2007: Ester Ballana; Juan R González; Nina Bosch; Xavier Estivill
Inter-population variability of DEFA3 gene absence: correlation with haplotype structure and population variability.
BMC genomics 2007;8():14.
2006: Razi Khaja; Junjun Zhang; Jeffrey R MacDonald; Yongshu He; Ann M Joseph-George; John Wei; Muhammad A Rafiq; Cheng Qian; Mary Shago; Lorena Pantano; Hiroyuki Aburatani; Keith Jones; Richard Redon; Matthew E Hurles; Lluis Armengol; Xavier Estivill; Richard J Mural; Charles Lee; Stephen W Scherer; Lars Feuk
Genome assembly comparison identifies structural variants in the human genome.
Nature genetics 2006;38(12):1413-8.
2006: Mara Dierssen; Mònica Gratacòs; Ignasi Sahun Abizanda; Miguel Martín; Xavier Gallego; Alejandro Amador-Arjona; María Martínez de Lagrán; Patricia Murtra; Eulàlia Martí; Miguel Angel Pujana; Isidro Ferrer; Esther Dalfó; Carmen Martínez-Cué; Jesús Flórez; Jesús F Torres-Peraza; Jordi Alberch; Rafael Maldonado; Cristina Fillat; Xavier Estivill
Transgenic mice overexpressing the full-length neurotrophin receptor TrkC exhibit increased catecholaminergic neuron density in specific brain areas and increased anxiety-like behavior and panic reaction.
Neurobiology of disease 2006;24(2):403-18.
2006: Juan R González; Wenyi Wang; Ester Ballana; Xavier Estivill
A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness.
Human mutation 2006;27(11):1135-42.
2006: Susana de la Luna; Xavier Estivill
Cooperation to amplify gene-dosage-imbalance effects.
Trends in molecular medicine 2006;12(10):451-4.
2006: Violaine Goidts; David N Cooper; Lluis Armengol; Werner Schempp; Jeffrey Conroy; Xavier Estivill; Norma Nowak; Horst Hameister; Hildegard Kehrer-Sawatzki
Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genome.
Human genetics 2006;120(2):270-84.
2006: Ester Ballana; Estela Morales; Xavier Estivill
Reply to correspondence by Abreu-Silva et al. regarding Ballana et al.: Mutation T1291C in the mitochondrial 12S rRNA gene involved in deafness in a Cuban family belongs to the macrohaplogroup L1 of African origin.
Biochemical and biophysical research communications 2006;346(3):619-20.
2006: Min-Xin Guan; Qingfeng Yan; Xiaoming Li; Yelena Bykhovskaya; Jaime Gallo-Teran; Petr Hajek; Noriko Umeda; Hui Zhao; Gema Garrido; Emebet Mengesha; Tsutomu Suzuki; Ignacio del Castillo; Jennifer Lynne Peters; Ronghua Li; Yaping Qian; Xinjian Wang; Ester Ballana; Mordechai Shohat; Jianxin Lu; Xavier Estivill; Kimitsuna Watanabe; Nathan Fischel-Ghodsian
Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations.
American journal of human genetics 2006;79(2):291-302.
2006: Olga Bravo; Ester Ballana; Xavier Estivill
Cochlear alterations in deaf and unaffected subjects carrying the deafness-associated A1555G mutation in the mitochondrial 12S rRNA gene.
Biochemical and biophysical research communications 2006;344(2):511-6.
2006: Qingfeng Yan; Yelena Bykhovskaya; Ronghua Li; Emebet Mengesha; Mordechai Shohat; Xavier Estivill; Nathan Fischel-Ghodsian; Min-Xin Guan
Human TRMU encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase is a putative nuclear modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutations.
Biochemical and biophysical research communications 2006;342(4):1130-6.
2006: Ester Ballana; Estela Morales; Raquel Rabionet; Bàrbara Montserrat; Marina Ventayol; Olga Bravo; Paolo Gasparini; Xavier Estivill
Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment.
Biochemical and biophysical research communications 2006;341(4):950-7.
2006: Violaine Goidts; Lluis Armengol; Werner Schempp; Jeffrey Conroy; Norma Nowak; Stefan Müller; David N Cooper; Xavier Estivill; Wolfgang Enard; Justyna M Szamalek; Horst Hameister; Hildegard Kehrer-Sawatzki
Identification of large-scale human-specific copy number differences by inter-species array comparative genomic hybridization.
Human genetics 2006;119(1-2):185-98.
2006: Francesca Donaudy; L Zheng; Romina Ficarella; Ester Ballana; Massimo Carella; Salvatore Melchionda; Xavier Estivill; J R Bartles; Paolo Gasparini
Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation.
Journal of medical genetics 2006;43(2):157-61.
2005: Lluis Armengol; Tomàs Marquès-Bonet; Joseph Cheung; Razi Khaja; Juan R González; Stephen W Scherer; Arcadi Navarro; Xavier Estivill
Murine segmental duplications are hot spots for chromosome and gene evolution.
Genomics 2005;86(6):692-700.
2005: M Ribases; M Gratacos; A Badia; L Jimenez; Raquel Solano Cereceda; Julio Vallejo; F Fernandez-Aranda; Xavier Estivill
Contribution of NTRK2 to the genetic susceptibility to anorexia nervosa, harm avoidance and minimum body mass index.
Molecular psychiatry 2005;10(9):851-60.
2005: Marie Wattenhofer; Alexandre Reymond; Véronique Falciola; Anne Charollais; Dorothée Caille; Christelle Borel; Robert Lyle; Xavier Estivill; Michael B Petersen; Paolo Meda; Stylianos E Antonarakis
Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro.
Human mutation 2005;25(6):543-9.
2005: Marta Ribasés; Mònica Gratacòs; Fernando Fernández-Aranda; laura bellodi; Claudette Boni; Marija Brecelj Anderluh; Maria Cristina Cavallini; Elena Cellini; Daniela Di Bella; Stefano Erzegovesi; Christine Foulon; Mojca Gabrovsek; Philip Gorwood; Johannes Hebebrand; Anke Hinney; Joanna Holliday; Xun Hu; Andreas Karwautz; Amélie Kipman; Radovan Komel; Benedetta Nacmias; Helmut Remschmidt; valdo ricca; Sandro Sorbi; Martina Tomori; Gudrun Wagner; Janet Treasure; David A Collier; Xavier Estivill
Association of BDNF with restricting anorexia nervosa and minimum body mass index: a family-based association study of eight European populations.
European journal of human genetics : EJHG 2005;13(4):428-34.
2005: Miroslava Ogorelkova; Xavier Estivill
Human genetics moves from clinic to bench--and back.
Genome biology 2005;6(9):343.
2004: Yelena Bykhovskaya; Emebet Mengesha; Dai Wang; Huiying Yang; Xavier Estivill; Mordechai Shohat; Nathan Fischel-Ghodsian
Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3.
Molecular genetics and metabolism 2004;83(3):199-206.
2004: Vassiliki Fotaki; María Martínez de Lagrán; Xavier Estivill; Maria L Arbonés; Mara Dierssen
Haploinsufficiency of Dyrk1A in mice leads to specific alterations in the development and regulation of motor activity.
Behavioral neuroscience 2004;118(4):815-21.
2004: Marta Ribasés; Mònica Gratacòs; Fernando Fernández-Aranda; laura bellodi; Claudette Boni; Marija Brecelj Anderluh; Maria Cristina Cavallini; Elena Cellini; Daniela Di Bella; Stefano Erzegovesi; Christine Foulon; Mojca Gabrovsek; Philip Gorwood; Johannes Hebebrand; Anke Hinney; Joanna Holliday; Xun Hu; Andreas Karwautz; Amélie Kipman; Radovan Komel; Benedetta Nacmias; Helmut Remschmidt; valdo ricca; Sandro Sorbi; Gudrun Wagner; Janet Treasure; David A Collier; Xavier Estivill
Association of BDNF with anorexia, bulimia and age of onset of weight loss in six European populations.
Human molecular genetics 2004;13(12):1205-12.
2004: Teresa Casals; Javier De Gracia; Miguel Gallego; J Dorca; B Rodríguez-Sanchón; Maria Dolors Ramos; Javier Giménez; A Cisteró-Bahima; C Olveira; Xavier Estivill
Bronchiectasis in adult patients: an expression of heterozygosity for CFTR gene mutations?
Clinical genetics 2004;65(6):490-5.
2004: Christine J Shaw; Pawel Stankiewicz; Gabriel A Bien-Willner; Scott C Bello; Chad A Shaw; Marta Carrera; Luis Perez Jurado; Xavier Estivill; James R Lupski
Small marker chromosomes in two patients with segmental aneusomy for proximal 17p.
Human genetics 2004;115(1):1-7.
2004: Yelena Bykhovskaya; Emebet Mengesha; Dai Wang; Huiying Yang; Xavier Estivill; Mordechai Shohat; Nathan Fischel-Ghodsian
Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutation.
Molecular genetics and metabolism 2004;82(1):27-32.
2004: Teresa Casals; Luís Aparisi; Cecilia Martínez-Costa; Javier Giménez; Maria Dolors Ramos; Josefina Mora; Juan Diaz; Jaume Boadas; Xavier Estivill; Antoni Farré
Different CFTR mutational spectrum in alcoholic and idiopathic chronic pancreatitis?
Pancreas 2004;28(4):374-9.
2004: Francesca Donaudy; Rikkert L Snoeckx; Markus Pfister; Hans-Peter Zenner; nikolaus blin; Mariateresa Di Stazio; Antonella Ferrara; Carmela Lanzara; Romina Ficarella; Frank Declau; Carsten M Pusch; Peter Nürnberg; Salvatore Melchionda; Leopoldo Zelante; Ester Ballana; Xavier Estivill; Guy Van Camp; Paolo Gasparini; Anna Savoia
Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4).
American journal of human genetics 2004;74(4):770-6.
2004: María Martínez de Lagrán; Xavier Altafaj; Xavier Gallego; Eulàlia Martí; Xavier Estivill; Ignasi Sahun Abizanda; Cristina Fillat; Mara Dierssen
Motor phenotypic alterations in TgDyrk1a transgenic mice implicate DYRK1A in Down syndrome motor dysfunction.
Neurobiology of disease 2004;15(1):132-42.
2004: Xiangdong Liu; Xiaobin Li; Martin Li; Yugo J Acimovic; Zhenzhong Li; Stephen W Scherer; Xavier Estivill; Lap-Chee Tsui
Characterization of the segmental duplication LCR7-20 in the human genome.
Genomics 2004;83(2):262-9.
2004: Joshua D Groman; Timothy W Hefferon; Teresa Casals; Lluís Bassas; Xavier Estivill; Marie Des Georges; Caroline Guittard; Monika Koudova; MARGARET D FALLIN; Krisztina Nemeth; Gyorgy Fekete; Ludovit Kadasi; Kenneth Friedman; Martin Schwarz; Cristina Bombieri; Pier Franco Pignatti; Emmanuel Kanavakis; Maria Tzetis; Marianne Schwartz; Giuseppe Novelli; Maria Rosaria D'Apice; Agnieszka Sobczynska-Tomaszewska; Jerzy Bal; Manfred Stuhrmann; Milan Macek Jr.; Mireille Claustres; Garry R Cutting
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.
American journal of human genetics 2004;74(1):176-9.
2004: Mojca Gabrovsek; M Brecelj-Anderluh; laura bellodi; Elena Cellini; Daniela Di Bella; Xavier Estivill; F Fernandez-Aranda; B Freeman; F Geller; M Gratacos; R Haigh; Johannes Hebebrand; Anke Hinney; Joanna Holliday; Xun Hu; Andreas Karwautz; Benedetta Nacmias; M Ribases; Helmut Remschmidt; Radovan Komel; Sandro Sorbi; Martina Tomori; Janet Treasure; Gudrun Wagner; J Zhao; David A Collier
Combined family trio and case-control analysis of the COMT Val158Met polymorphism in European patients with anorexia nervosa.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2004;124B(1):68-72.
2003: Laura Carim-Todd; Mònica Escarceller; Xavier Estivill; Lauro Sumoy
LRRN6A/LERN1 (leucine-rich repeat neuronal protein 1), a novel gene with enriched expression in limbic system and neocortex.
The European journal of neuroscience 2003;18(12):3167-82.
2003: Ignacio del Castillo; Miguel A Moreno-Pelayo; Francisco del Castillo; Zippora Brownstein; Sandrine Marlin; Quint Adina; David J Cockburn; Arti Pandya; Kirby R Siemering; G Parker Chamberlin; Ester Ballana; Wim Wuyts; Andréa T Maciel-Guerra; Araceli Alvarez; Manuela Villamar; Mordechai Shohat; Dvorah Abeliovich; Hans-Henrik M Dahl; Xavier Estivill; Paolo Gasparini; Tim Hutchin; Walter E Nance; Edi Sartorato; Richard J H Smith; Guy Van Camp; Karen B Avraham; Christine Petit; Felipe Moreno
Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.
American journal of human genetics 2003;73(6):1452-8.
2003: Nuria Andreu; Núria Pujol-Moix; Luis Martinez-Lostao; Marta Oset; Eduardo Muñiz-Diaz; Xavier Estivill; Victor Volpini; Cristina Fillat
Wiskott-Aldrich syndrome in a female with skewed X-chromosome inactivation.
Blood cells, molecules & diseases 2003;31(3):332-7.
2003: Lluis Armengol; Miguel Angel Pujana; Joseph Cheung; Stephen W Scherer; Xavier Estivill
Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements.
Human molecular genetics 2003;12(17):2201-8.
2003: Lali Genescà; Anna Aubareda; Juan J Fuentes; Xavier Estivill; Susana de la Luna; Mercè Pérez-Riba
Phosphorylation of calcipressin 1 increases its ability to inhibit calcineurin and decreases calcipressin half-life.
The Biochemical journal 2003;374(Pt 2):567-75.
2003: Marta Ribasés; Mònica Gratacòs; Lluis Armengol; Rafael de Cid; A Badía; L Jiménez; Raquel Solano Cereceda; Julio Vallejo; F Fernández; Xavier Estivill
Met66 in the brain-derived neurotrophic factor (BDNF) precursor is associated with anorexia nervosa restrictive type.
Molecular psychiatry 2003;8(8):745-51.
2003: Monica Alvarez-Fernandez; Xavier Estivill; Susana de la Luna
DYRK1A accumulates in splicing speckles through a novel targeting signal and induces speckle disassembly.
Journal of cell science 2003;116(Pt 15):3099-107.
2003: David de Semir; marga nadal; Juan R González; Sara Larriba; Anna Avinyó; Virginia Nunes; Teresa Casals; Xavier Estivill; Josep M Aran
Suitability of oligonucleotide-mediated cystic fibrosis gene repair in airway epithelial cells.
The journal of gene medicine 2003;5(7):625-39.
2003: Mara Dierssen; Ruth Benavides-Piccione; Carmen Martínez-Cué; Xavier Estivill; Jesús Flórez; Guy N Elston; Javier DeFelipe
Alterations of neocortical pyramidal cell phenotype in the Ts65Dn mouse model of Down syndrome: effects of environmental enrichment.
Cerebral cortex (New York, N.Y. : 1991) 2003;13(7):758-64.
2003: John F Hilton; Karen E Christensen; David Watkins; Benjamin A Raby; Yannick Renaud; Susanna de la Luna; Xavier Estivill; Robert E MacKenzie; Thomas J Hudson; David S Rosenblatt
The molecular basis of glutamate formiminotransferase deficiency.
Human mutation 2003;22(1):67-73.
2003: Elisabet Ars; Helena Kruyer; M Morell; Eva Pros; Eduard Serra; Anna Ravella; Xavier Estivill; Conxi Lázaro
Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients.
Journal of medical genetics 2003;40(6):e82.
2003: Giorgio Gimelli; Miguel Angel Pujana; Maria Grazia Patricelli; Silvia Russo; Daniela Giardino; Lidia Larizza; Joseph Cheung; Lluis Armengol; Albert Schinzel; Xavier Estivill; Orsetta Zuffardi
Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions.
Human molecular genetics 2003;12(8):849-58.
2003: Eulàlia Martí; Xavier Altafaj; Mara Dierssen; Susana de la Luna; Vassiliki Fotaki; Monica Alvarez-Fernandez; Mercè Pérez-Riba; Isidro Ferrer; Xavier Estivill
Dyrk1A expression pattern supports specific roles of this kinase in the adult central nervous system.
Brain research 2003;964(2):250-63.
2003: Katharina Domschke; Gregor Kuhlenbäumer; Anja Schirmacher; Cristina Lorenzi; Lluis Armengol; D DiBella; M Gratacos; Henk Garritsen; Markus M Nöthen; Petra Franke; Philipp Sand; Jürgen Fritze; G Perez; Wolfgang Maier; Walter Sibrowski; Xavier Estivill; laura bellodi; E Bernd Ringelstein; Volker Arolt; R Martin-Santos; Marco Catalano; Florian Stögbauer; Jürgen Deckert
Human nuclear transcription factor gene CREM: genomic organization, mutation screening, and association analysis in panic disorder.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2003;117B(1):70-8.
2003: Nuria Andreu; Carmen Carreras; Félix Prieto; Xavier Estivill; Victor Volpini; Cristina Fillat
Identification and characterization of a novel splice-site mutation in a patient with Wiskott-Aldrich syndrome.
Journal of human genetics 2003;48(11):590-3.
2003: Joseph Cheung; Xavier Estivill; Razi Khaja; Jeffrey R MacDonald; Ken Lau; Lap-Chee Tsui; Stephen W Scherer
Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence.
Genome biology 2003;4(4):R25.
2002: Núria López-Bigas; Maria L Arbonés; Xavier Estivill; Lionel Simonneau
Expression profiles of the connexin genes, Gjb1 and Gjb3, in the developing mouse cochlea.
Mechanisms of development 2002;119 Suppl 1():S111-5.
2002: Olga Padilla; Miguel Angel Pujana; Agustí López-de la Iglesia; Idoia Gimferrer; Mònica Arman; Josep Maria Vilà; Lourdes Places; Jordi Vives; Xavier Estivill; Francisco Lozano
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.
Immunogenetics 2002;54(9):621-34.
2002: Núria López-Bigas; Maria L Arbonés; Xavier Estivill; Lionel Simonneau
Expression profiles of the connexin genes, Gjb1 and Gjb3, in the developing mouse cochlea.
Gene expression patterns : GEP 2002;2(1-2):113-7.
2002: Vassiliki Fotaki; Mara Dierssen; Soledad Alcántara; Salvador Martínez; Eulàlia Martí; caty casas; Joana Visa; Eduardo Soriano; Xavier Estivill; Maria L Arbonés
Dyrk1A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in mice.
Molecular and cellular biology 2002;22(18):6636-47.
2002: Xavier Estivill; Joseph Cheung; Miguel Angel Pujana; Kazuhiko Nakabayashi; Stephen W Scherer; Lap-Chee Tsui
Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome.
Human molecular genetics 2002;11(17):1987-95.
2002: Eva Thönnissen; Raquel Rabionet; Maria Lourdes Arbonès; Xavier Estivill; Klaus Willecke; Thomas Ott
Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression.
Human genetics 2002;111(2):190-7.
2002: Mara Dierssen; Vassiliki Fotaki; María Martínez de Lagrán; M Gratacós; Maria L Arbonés; Cristina Fillat; Xavier Estivill
Neurobehavioral development of two mouse lines commonly used in transgenic studies.
Pharmacology, biochemistry, and behavior 2002;73(1):19-25.
2002: Núria López-Bigas; Salvatore Melchionda; Rafael de Cid; A Grifa; Leopoldo Zelante; N Govea; Maria L Arbonés; Paolo Gasparini; Xavier Estivill
Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.
Human mutation 2002;20(1):77-8.
2002: David de Semir; Anna Avinyó; Sara Larriba; Virginia Nunes; Teresa Casals; Xavier Estivill; Josep M Aran
Quantitative assessment of chimeraplast stability in biological fluids by polyacrylamide gel electrophoresis and laser-assisted fluorescence analysis.
Pharmaceutical research 2002;19(6):914-8.
2002: David de Semir; Jordi Petriz; Anna Avinyó; Sara Larriba; Virginia Nunes; Teresa Casals; Xavier Estivill; Josep M Aran
Non-viral vector-mediated uptake, distribution, and stability of chimeraplasts in human airway epithelial cells.
The journal of gene medicine 2002;4(3):308-22.
2002: Raquel Rabionet; Núria López-Bigas; Maria Lourdes Arbonès; Xavier Estivill
Connexin mutations in hearing loss, dermatological and neurological disorders.
Trends in molecular medicine 2002;8(5):205-12.
2002: Núria López-Bigas; Salvatore Melchionda; Paolo Gasparini; Alfonso Borragán; Maria L Arbonés; Xavier Estivill
A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families.
Human mutation 2002;19(4):458.
2002: Meritxell Carrió; Joana Visa; Anna Cascante; Xavier Estivill; Cristina Fillat
Intratumoral activation of cyclophosphamide by retroviral transfer of the cytochrome P450 2B1 in a pancreatic tumor model. Combination with the HSVtk/GCV system.
The journal of gene medicine 2002;4(2):141-9.
2002: 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 C Trembath; Juha Kere
Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locus.
Human molecular genetics 2002;11(5):589-97.
2002: Marie Wattenhofer; Mario Vincenzo Di Iorio; Raquel Rabionet; Loretta Dougherty; Andreas Pampanos; Torsten Schwede; Barbara Montserrat-Sentis; Maria Lourdes Arbones; Theophilos Iliades; Annamaria Pasquadibisceglie; Marcello D'Amelio; Sura Alwan; Colette Rossier; Hans-Henrik M Dahl; Michael B Petersen; Xavier Estivill; Paolo Gasparini; Hamish Scott; Stylianos E Antonarakis
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.
Journal of molecular medicine (Berlin, Germany) 2002;80(2):124-31.
2002: Lluis Armengol; Mònica Gratacòs; Miguel Angel Pujana; Marta Ribasés; Rocío Martín-Santos; Xavier Estivill
5' UTR-region SNP in the NTRK3 gene is associated with panic disorder.
Molecular psychiatry 2002;7(9):928-30.
2002: Miguel Angel Pujana; marga nadal; Miriam Guitart; Lluis Armengol; Mònica Gratacòs; Xavier Estivill
Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons.
European journal of human genetics : EJHG 2002;10(1):26-35.
2002: Philip Gorwood; Jean Adès; laura bellodi; Elena Cellini; David A Collier; Daniela Di Bella; Milena Di Bernardo; Xavier Estivill; F Fernandez-Aranda; M Gratacos; Johannes Hebebrand; Anke Hinney; Xun Hu; Andreas Karwautz; Amélie Kipman; Marie-Christine Mouren-Siméoni; Benedetta Nacmias; Marta Ribasés; Helmut Remschmidt; valdo ricca; Carlo Maria Rotella; Sandro Sorbi; Janet Treasure
The 5-HT(2A) -1438G/A polymorphism in anorexia nervosa: a combined analysis of 316 trios from six European centres.
Molecular psychiatry 2002;7(1):90-4.
2001: Núria López-Bigas; Salvatore Melchionda; Rafael de Cid; A Grifa; Leopoldo Zelante; N Govea; Maria L Arbonés; Paolo Gasparini; Xavier Estivill
Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.
Human mutation 2001;18(6):548.
2001: Sara Larriba; Lauro Sumoy; Maria Dolors Ramos; Javier Giménez; Xavier Estivill; Teresa Casals; Virginia Nunes
ATB(0)/SLC1A5 gene. Fine localisation and exclusion of association with the intestinal phenotype of cystic fibrosis.
European journal of human genetics : EJHG 2001;9(11):860-6.
2001: N Andreu; Mònica Escarceller; S Feather; koenraad devriendt; A S Wolf; Xavier Estivill; Lauro Sumoy
PALML, a novel paralemmin-related gene mapping on human chromosome 1p21.
Gene 2001;278(1-2):33-40.
2001: C Pucharcos; caty casas; marga nadal; Xavier Estivill; Susana de la Luna
The human intersectin genes and their spliced variants are differentially expressed.
Biochimica et biophysica acta 2001;1521(1-3):1-11.
2001: Meritxell Carrió; Adela Mazo; C López-Iglesias; Xavier Estivill; Cristina Fillat
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.
International journal of cancer. Journal international du cancer 2001;94(1):81-8.
2001: Xavier Altafaj; Mara Dierssen; Carmela Baamonde; Eulàlia Martí; Joana Visa; J Guimerà; Marta Oset; Juan Ramón González; Jesús Flórez; Cristina Fillat; Xavier Estivill
Neurodevelopmental delay, motor abnormalities and cognitive deficits in transgenic mice overexpressing Dyrk1A (minibrain), a murine model of Down's syndrome.
Human molecular genetics 2001;10(18):1915-23.
2001: Salvatore Melchionda; Nadav Ahituv; Luigi Bisceglia; Tama Sobe; Fabian Glaser; Raquel Rabionet; Maria Lourdes Arbones; A Notarangelo; Enzo Di Iorio; Massimo Carella; Leopoldo Zelante; Xavier Estivill; Karen B Avraham; Paolo Gasparini
MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss.
American journal of human genetics 2001;69(3):635-40.
2001: Mònica Gratacòs; marga nadal; Rocío Martín-Santos; Miguel Angel Pujana; Jordi Gago; B Peral; Lluis Armengol; Immaculada Ponsa; Rosa Miró; Antonio Bulbena; Xavier Estivill
A polymorphic genomic duplication on human chromosome 15 is a susceptibility factor for panic and phobic disorders.
Cell 2001;106(3):367-79.
2001: Mara Dierssen; Cristina Fillat; L Crnic; Maria L Arbonés; Jesús Flórez; Xavier Estivill
Murine models for Down syndrome.
Physiology & behavior 2001;73(5):859-71.
2001: Sara Larriba; Lluís Bassas; S Egozcue; Javier Giménez; Maria Dolors Ramos; O Briceño; Xavier Estivill; Teresa Casals
Adenosine triphosphate-binding cassette superfamily transporter gene expression in severe male infertility.
Biology of reproduction 2001;65(2):394-400.
2001: Laura Carim-Todd; Lauro Sumoy; N Andreu; Xavier Estivill; Mònica Escarceller
Identification of C15orf5, a heart-enriched transcript on chromosome 15q23-q24.
DNA sequence : the journal of DNA sequencing and mapping 2001;12(1):67-9.
2001: Eduard Serra; Thorsten Rosenbaum; marga nadal; U Winner; Elisabet Ars; Xavier Estivill; Conxi Lázaro
Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas.
Nature genetics 2001;28(3):294-6.
2001: Eduard Serra; Elisabet Ars; Anna Ravella; A Sánchez; Susana Puig; Thorsten Rosenbaum; Xavier Estivill; Conxi Lázaro
Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutations.
Human genetics 2001;108(5):416-29.
2001: Yelena Bykhovskaya; Huiying Yang; K Taylor; Tieu Hang; R Y Tun; Xavier Estivill; RA Casano; K Majamaa; Mordechai Shohat; Nathan Fischel-Ghodsian
Modifier locus for mitochondrial DNA disease: linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness.
Genetics in medicine : official journal of the American College of Medical Genetics 2001;3(3):177-80.
2001: Cristina Fillat; T Español; Marta Oset; M Ferrando; Xavier Estivill; Victor Volpini
Identification of WASP mutations in 14 Spanish families with Wiskott-Aldrich syndrome.
American journal of medical genetics 2001;100(2):116-21.
2001: Núria López-Bigas; Montse Olivé; Raquel Rabionet; Orit Ben-David; Juan Antonio Martínez-Matos; Olga Bravo; Isabel Banchs; Victor Volpini; Paolo Gasparini; Karen B Avraham; Isidro Ferrer; Maria L Arbonés; Xavier Estivill
Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment.
Human molecular genetics 2001;10(9):947-52.
2001: Laura Carim-Todd; Mònica Escarceller; Xavier Estivill; Lauro Sumoy
Characterization of human FSD1, a novel brain specific gene on chromosome 19 with paralogy to 9q31.
Biochimica et biophysica acta 2001;1518(1-2):200-3.
2001: caty casas; S Martínez; MA Pritchard; Juan J Fuentes; marga nadal; J Guimerà; Maria L Arbonés; Jesús Flórez; Eduardo Soriano; Xavier Estivill; Soledad Alcántara
Dscr1, a novel endogenous inhibitor of calcineurin signaling, is expressed in the primitive ventricle of the heart and during neurogenesis.
Mechanisms of development 2001;101(1-2):289-92.
2001: Cèlia Badenas; Sergi Castellví-Bel; V Volpini; Dolores Jiménez; Aurora Sánchez; Xavier Estivill; Montserrat Milà
Linkage analysis in Spanish families with nonspecific X-linked mental retardation: Significant linkage at Xq13-q21.
American journal of medical genetics 2001;98(4):343-7.
2001: Laura Carim-Todd; Mònica Escarceller; Xavier Estivill; Lauro Sumoy
Identification and characterization of UBXD1, a novel UBX domain-containing gene on human chromosome 19p13, and its mouse ortholog.
Biochimica et biophysica acta 2001;1517(2):298-301.
2001: Laura Carim-Todd; Lauro Sumoy; N Andreu; Xavier Estivill; Mònica Escarceller
Identification and characterization of BTBD1, a novel BTB domain containing gene on human chromosome 15q24.
Gene 2001;262(1-2):275-81.
2001: Lauro Sumoy; Raquel Pluvinet; N Andreu; Xavier Estivill; Mònica Escarceller
PACSIN 3 is a novel SH3 domain cytoplasmic adapter protein of the pacsin-syndapin-FAP52 gene family.
Gene 2001;262(1-2):199-205.
2001: Mara Dierssen; Eulàlia Martí; C Pucharcós; Vassiliki Fotaki; Xavier Altafaj; K Casas; A Solans; Maria L Arbonés; Cristina Fillat; Xavier Estivill
Functional genomics of Down syndrome: a multidisciplinary approach.
Journal of neural transmission. Supplementum 2001;(61):131-48.
2001: Laura Carim-Todd; Lauro Sumoy; N Andreu; Xavier Estivill; Mònica Escarceller
Cloning, mapping and expression analysis of C15orf4, a novel human gene with homology to the yeast mitochondrial ribosomal protein Ym130 gene.
DNA sequence : the journal of DNA sequencing and mapping 2001;12(2):91-6.
2001: J Mallolas; Maria Antonia Vilaseca; C Pavia; Nilo Lambruschini; Francisco J Cambra; Jaume Campistol; D Gómez; Ana Carrió; Xavier Estivill; Montserrat Milà
Large de novo deletion in chromosome 12 affecting the PAH, IGF1, ASCL1, and TRA1 genes.
Journal of molecular medicine (Berlin, Germany) 2001;78(12):721-4.
2001: Núria López-Bigas; Raquel Rabionet; Maria L Arbonés; Xavier Estivill
R32W variant in Connexin 31: mutation or polymorphism for deafness and skin disease?
European journal of human genetics : EJHG 2001;9(1):70.
2001: Rafael de Cid; Jean-Claude Chomel; Conxi Lazaro; J Sunyer; M Baudis; Teresa Casals; Nicole Le Moual; Alain Kitzis; JOSUE FEINGOLD; J Anto; Xavier Estivill; Francine Kauffmann
CFTR and asthma in the French EGEA study.
European journal of human genetics : EJHG 2001;9(1):67-9.
2001: Miguel Angel Pujana; marga nadal; Mònica Gratacòs; B Peral; K Csiszar; R González-Sarmiento; Lauro Sumoy; Xavier Estivill
Additional complexity on human chromosome 15q: identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26.
Genome research 2001;11(1):98-111.
2000: Eduard Serra; Thorsten Rosenbaum; U Winner; R Aledo; Elisabet Ars; Xavier Estivill; Hans-Gerd Lenard; Conxi Lázaro
Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations.
Human molecular genetics 2000;9(20):3055-64.
2000: R Chrast; Hamish Scott; MP Papasavvas; Colette Rossier; E S Antonarakis; C Barras; Muriel T Davisson; C Schmidt; Xavier Estivill; Mara Dierssen; M Pritchard; Stylianos E Antonarakis
The mouse brain transcriptome by SAGE: differences in gene expression between P30 brains of the partial trisomy 16 mouse model of Down syndrome (Ts65Dn) and normals.
Genome research 2000;10(12):2006-21.
2000: C Pucharcos; Xavier Estivill; Susana de la Luna
Intersectin 2, a new multimodular protein involved in clathrin-mediated endocytosis.
FEBS letters 2000;478(1-2):43-51.
2000: Teresa Casals; Lluís Bassas; S Egozcue; Maria Dolors Ramos; Javier Giménez; A Segura; F Garcia; M Carrera; Sara Larriba; J Sarquella; Xavier Estivill
Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens.
Human reproduction (Oxford, England) 2000;15(7):1476-83.
2000: Juan J Fuentes; L Genescà; Tami J Kingsbury; Kyle W Cunningham; Mercè Pérez-Riba; Xavier Estivill; Susana de la Luna
DSCR1, overexpressed in Down syndrome, is an inhibitor of calcineurin-mediated signaling pathways.
Human molecular genetics 2000;9(11):1681-90.
2000: Susana Puig; J Castro; P J Ventura; A Ruiz; C Ascaso; Josep Malvehy; Xavier Estivill; JM Mascaro; Mario Lecha; Teresa Castel
Large deletions of chromosome 9p in cutaneous malignant melanoma identify patients with a high risk of developing metastases. Hospital Clinic Malignant Melanoma Group, University of Barcelona.
Melanoma research 2000;10(3):231-6.
2000: Yelena Bykhovskaya; Xavier Estivill; K Taylor; Tieu Hang; M Hamon; RA Casano; Huiying Yang; Jerome I Rotter; Mordechai Shohat; Nathan Fischel-Ghodsian
Candidate locus for a nuclear modifier gene for maternally inherited deafness.
American journal of human genetics 2000;66(6):1905-10.
2000: marga nadal; Alberto Valiente; A Domènech; M Pritchard; Xavier Estivill; María Antonia Ramos-Arroyo
Hereditary neuropathy with liability to pressure palsies: two cases with a reciprocal translocation t(16;17)(q12;11.2) interrupting the PMP22 gene.
Journal of medical genetics 2000;37(5):396-8.
2000: Cristina Fillat; T Español; Marta Oset; M Cavieres; P dal Borgo; Xavier Estivill; Victor Volpini
Two novel mutations in the WASP gene in Wiskott-Aldrich patients of Chile origin: W64R and A124E.
Human mutation 2000;15(5):487.
2000: Núria López-Bigas; Raquel Rabionet; E Martínez; Isabel Banchs; Victor Volpini; Jeffery Vance; Maria L Arbonés; Xavier Estivill
Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene.
Human mutation 2000;15(5):481-2.
2000: Isabel Aznarez; Jerzy Bal; Teresa Casals; Xavier Estivill; N Moral; Dorota Sands; V Nunes; A Sobczyńska-Tomaszewska; Lap-Chee Tsui; Julian Zielenski
[Analysis of mutations in the CFTR gene in patients diagnosed with cystic fibrosis in Poland].
Medycyna wieku rozwojowego 2000;4(2):149-59.
2000: Montserrat Milà; Sergi Castellví-Bel; Aurora Sánchez; A Barceló; Cèlia Badenas; J Mallolas; Xavier Estivill
Rare variants in the promoter of the fragile X syndrome gene (FMR1).
Molecular and cellular probes 2000;14(2):115-9.
2000: Núria López-Bigas; Raquel Rabionet; E Martinez; Olga Bravo; J Girons; A Borragan; M Pellicer; Maria L Arbonés; Xavier Estivill
Mutations in the mitochondrial tRNA Ser(UCN) and in the GJB2 (connexin 26) gene are not modifiers of the age at onset or severity of hearing loss in Spanish patients with the 12S rRNA A1555G mutation.
American journal of human genetics 2000;66(4):1465-7.
2000: Elisabet Ars; Eduard Serra; S de la Luna; Xavier Estivill; Conxi Lázaro
Cold shock induces the insertion of a cryptic exon in the neurofibromatosis type 1 (NF1) mRNA.
Nucleic acids research 2000;28(6):1307-12.
2000: Tarja Laitinen; Vesa Ollikainen; Conxi Lázaro; Pekka E Kauppi; Rafael de Cid; Josep M Antó; Xavier Estivill; H Lokki; Heikki Mannila; Lauri A Laitinen; Juha Kere
Association study of the chromosomal region containing the FCER2 gene suggests it has a regulatory role in atopic disorders.
American journal of respiratory and critical care medicine 2000;161(3 Pt 1):700-6.
2000: Cristina Bombieri; Silvia Giorgi; S Carles; Rafael de Cid; Francesca Belpinati; C Tandoi; Nathalie Pallares-Ruiz; Conxi Lazaro; Bianca Maria Ciminelli; Marie-Catherine Romey; Teresa Casals; Fiorenza Pompei; G Gandini; Mireille Claustres; Xavier Estivill; Pier Franco Pignatti; Guido Modiano
A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals.
Human genetics 2000;106(2):172-8.
2000: Elisabet Ars; Eduard Serra; J García; Helena Kruyer; A Gaona; Conxi Lázaro; Xavier Estivill
Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.
Human molecular genetics 2000;9(2):237-47.
2000: Joan B Soriano; Rafael de Cid; Xavier Estivill; Josep M Antó; Jordi Sunyer; D Otero; Josep Roca; R Rodríguez-Roisín; Ferran Morell; María-José Rodrigo; G Ercilla; Terri H beaty; Conxi Lázaro
Association study of proposed candidate genes/regions in a population of Spanish asthmatics.
European journal of epidemiology 2000;16(8):745-50.
2000: Laura Carim-Todd; Mònica Escarceller; Xavier Estivill; Lauro Sumoy
Cloning of the novel gene TM6SF1 reveals conservation of clusters of paralogous genes between human chromosomes 15q24-->q26 and 19p13.3-->p12.
Cytogenetics and cell genetics 2000;90(3-4):255-60.
2000: Mònica Escarceller; Raquel Pluvinet; Lauro Sumoy; Xavier Estivill
Identification and expression analysis of C3orf1, a novel human gene homologous to the Drosophila RP140-upstream gene.
DNA sequence : the journal of DNA sequencing and mapping 2000;11(3-4):335-8.
2000: Raquel Rabionet; Leopoldo Zelante; Núria López-Bigas; L D'Agruma; Salvatore Melchionda; G Restagno; Maria L Arbonés; Paolo Gasparini; Xavier Estivill
Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.
Human genetics 2000;106(1):40-4.
2000: A Solans; Xavier Estivill; Susana de la Luna
A new aspartyl protease on 21q22.3, BACE2, is highly similar to Alzheimer's amyloid precursor protein beta-secretase.
Cytogenetics and cell genetics 2000;89(3-4):177-84.
2000: L Carim; Lauro Sumoy; N Andreu; Xavier Estivill; Mònica Escarceller
Cloning, mapping and expression analysis of VPS33B, the human orthologue of rat Vps33b.
Cytogenetics and cell genetics 2000;89(1-2):92-5.
2000: L Carim; Lauro Sumoy; N Andreu; Xavier Estivill; Mònica Escarceller
Identification and expression analysis of C15orf3, a novel gene on chromosome 15q21.1-->q21.2.
Cytogenetics and cell genetics 2000;88(3-4):330-2.
2000: Roser Torra; Cèlia Badenas; Laureano Pérez-Oller; José L San Millán; Dolores Tellería; Xavier Estivill; Alejandro Darnell
[Mutational analysis of the PKD1 and PKD2 (type 1 and 2 dominant autosomal polycystic kidney) genes].
Nefrología : publicación oficial de la Sociedad Española Nefrologia 2000;20(1):39-46.
2000: Yolanda Espinosa-Parrilla; M Morell; Montserrat Borrell; Juan Carlos Souto; Jordi Fontcuberta; Xavier Estivill; Núria Sala
Optimization of a simple and rapid single-strand conformation analysis for detection of mutations in the PROS1 gene: identification of seven novel mutations and three novel, apparently neutral, variants.
Human mutation 2000;15(5):463-73.
2000: Lauro Sumoy; L Carim; Mònica Escarceller; marga nadal; Mònica Gratacòs; Miguel Angel Pujana; Xavier Estivill; B Peral
HMG20A and HMG20B map to human chromosomes 15q24 and 19p13.3 and constitute a distinct class of HMG-box genes with ubiquitous expression.
Cytogenetics and cell genetics 2000;88(1-2):62-7.
2000: A Solans; Xavier Estivill; Susana de la Luna
Cloning and characterization of human FTCD on 21q22.3, a candidate gene for glutamate formiminotransferase deficiency.
Cytogenetics and cell genetics 2000;88(1-2):43-9.
2000: Paolo Gasparini; Raquel Rabionet; G Barbujani; S Melçhionda; M Petersen; K Brøndum-Nielsen; Andres Metspalu; Eneli Oitmaa; M Pisano; Paolo Fortina; Leopoldo Zelante; Xavier Estivill
High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG.
European journal of human genetics : EJHG 2000;8(1):19-23.
2000: Yolanda Espinosa-Parrilla; G Navarro; M Morell; E Abella; Xavier Estivill; Núria Sala
Homozygosity for the protein S Heerlen allele is associated with type I PS deficiency in a thrombophilic pedigree with multiple risk factors.
Thrombosis and haemostasis 2000;83(1):102-6.
1999: J Mallolas; Maria Antonia Vilaseca; Jaume Campistol; Nilo Lambruschini; Francisco J Cambra; Xavier Estivill; Montserrat Milà
Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation.
Human genetics 1999;105(5):468-73.
1999: Antonio Torroni; Fulvio Cruciani; Chiara Rengo; Daniele Sellitto; Núria López-Bigas; Raquel Rabionet; N Govea; A López De Munain; M Sarduy; L Romero; Manuela Villamar; Ignacio del Castillo; Felipe Moreno; Xavier Estivill; Rosaria Scozzari
The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness.
American journal of human genetics 1999;65(5):1349-58.
1999: A Ruiz; marga nadal; S Puig; Xavier Estivill
Cloning of the human phospholipase A2 activating protein (hPLAP) gene on the chromosome 9p21 melanoma deleted region.
Gene 1999;239(1):155-61.
1999: C Pucharcós; Juan J Fuentes; caty casas; Susana de la Luna; Soledad Alcántara; Maria L Arbonés; Eduardo Soriano; Xavier Estivill; M Pritchard
Alu-splice cloning of human Intersectin (ITSN), a putative multivalent binding protein expressed in proliferating and differentiating neurons and overexpressed in Down syndrome.
European journal of human genetics : EJHG 1999;7(6):704-12.
1999: A Grifa; C A Wagner; L D'Ambrosio; Salvatore Melchionda; F Bernardi; N Lopez-Bigas; Raquel Rabionet; Maria Lourdes Arbones; M D Monica; Xavier Estivill; Leopoldo Zelante; F Lang; Paolo Gasparini
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus.
Nature genetics 1999;23(1):16-8.
1999: Elisabet Ars; Helena Kruyer; A Gaona; Eduard Serra; Conxi Lázaro; Xavier Estivill
Prenatal diagnosis of sporadic neurofibromatosis type 1 (NF1) by RNA and DNA analysis of a splicing mutation.
Prenatal diagnosis 1999;19(8):739-42.
1999: Roser Torra; Cèlia Badenas; José L San Millán; Laureano Pérez-Oller; Xavier Estivill; Alejandro Darnell
A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2.
American journal of human genetics 1999;65(2):345-52.
1999: Montserrat Milà; Ana Carrió; Aurora Sánchez; D Gómez; Dolores Jiménez; Xavier Estivill; F Ballesta
[Clinical characterization, molecular and FISH studies in 80 patients with clinical suspicion of Williams-Beuren syndrome].
Medicina clínica 1999;113(2):46-9.
1999: A Ruiz; Susana Puig; Josep Malvehy; Conxi Lázaro; M Lynch; A M Gimenez-Arnau; L Puig; J Sánchez-Conejo; Xavier Estivill; Teresa Castel
CDKN2A mutations in Spanish cutaneous malignant melanoma families and patients with multiple melanomas and other neoplasia.
Journal of medical genetics 1999;36(6):490-3.
1999: Miguel Angel Pujana; Jordi Corral; Mònica Gratacòs; O Combarros; J Berciano; David Genís; Isabel Banchs; Xavier Estivill; Victor Volpini
Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases. The Ataxia Study Group.
Human genetics 1999;104(6):516-22.
1999: Julian Zielenski; Mary Corey; Richard Rozmahel; Danuta Markiewicz; Isabel Aznarez; Teresa Casals; Sara Larriba; B Mercier; Garry R Cutting; Alice Krebsova; Milan Macek Jr.; E Langfelder-Schwind; B C Marshall; Joan Decelie-Germana; M Claustres; AM Palacio; Jerzy Bal; A Nowakowska; C Ferec; Xavier Estivill; Peter Roy Durie; Lap-Chee Tsui
Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13.
Nature genetics 1999;22(2):128-9.
1999: Sergi Castellví-Bel; Aurora Sánchez; Cèlia Badenas; J Mallolas; A Barceló; Dolores Jiménez; M Villa; Xavier Estivill; Montserrat Milà
Single-strand conformation polymorphism analysis in the FMR1 gene.
American journal of medical genetics 1999;84(3):262-5.
1999: Thalia Antoniadi; Raquel Rabionet; Christos Kroupis; George Aperis; John Economides; J Petmezakis; Effrosini Economou-Petersen; Xavier Estivill; Michael B Petersen
High prevalence in the Greek population of the 35delG mutation in the connexin 26 gene causing prelingual deafness.
Clinical genetics 1999;55(5):381-2.
1999: J Guimera; caty casas; Xavier Estivill; M Pritchard
Human minibrain homologue (MNBH/DYRK1): characterization, alternative splicing, differential tissue expression, and overexpression in Down syndrome.
Genomics 1999;57(3):407-18.
1999: R Rabionet; Xavier Estivill
Allele specific oligonucleotide analysis of the common deafness mutation 35delG in the connexin 26 (GJB2) gene.
Journal of medical genetics 1999;36(3):260-1.
1999: Lourdes Martorell; Miguel Angel Pujana; Joaquin Valero; Jorge Joven; Victor Volpini; Antonio Labad; Xavier Estivill; Elisabet Vilella
Anticipation is not associated with CAG repeat expansion in parent-offspring pairs of patients affected with schizophrenia.
American journal of medical genetics 1999;88(1):50-6.
1999: Juan J Fuentes; Mara Dierssen; C Pucharcós; Cristina Fillat; caty casas; Xavier Estivill; M Pritchard
Application of Alu-splice PCR on chromosome 21: DSCR1 and Intersectin.
Journal of neural transmission. Supplementum 1999;57():337-52.
1999: L Carim; Lauro Sumoy; marga nadal; Xavier Estivill; Mònica Escarceller
Cloning, expression, and mapping of PDCD9, the human homolog of Gallus gallus pro-apoptotic protein p52.
Cytogenetics and cell genetics 1999;87(1-2):85-8.
1999: Núria López-Bigas; Raquel Rabionet; Rafael de Cid; N Govea; Paolo Gasparini; Leopoldo Zelante; Maria L Arbonés; Xavier Estivill
Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome.
Human mutation 1999;14(6):520-6.
1999: Conxi Lázaro; Rafael de Cid; Jordi Sunyer; J Soriano; Javier Giménez; Monica Alvarez-Fernandez; Teresa Casals; Josep M Antó; Xavier Estivill
Missense mutations in the cystic fibrosis gene in adult patients with asthma.
Human mutation 1999;14(6):510-9.
1999: Yolanda Espinosa-Parrilla; M Morell; Juan Carlos Souto; Isabel Tirado; Jordi Fontcuberta; Xavier Estivill; Núria Sala
Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III PS deficiency.
Human mutation 1999;14(1):30-9.
1998: Sara Larriba; Lluís Bassas; J Gimenez; Maria Dolors Ramos; A Segura; Virginia Nunes; Xavier Estivill; Teresa Casals
Testicular CFTR splice variants in patients with congenital absence of the vas deferens.
Human molecular genetics 1998;7(11):1739-43.
1998: R Llevadot; G Marqués; M Pritchard; Xavier Estivill; A Ferrús; P Scambler
Cloning, chromosome mapping and expression analysis of the HIRA gene from Drosophila melanogaster.
Biochemical and biophysical research communications 1998;249(2):486-91.
1998: F Carratalá; F Galán; M Moya; Xavier Estivill; MA Pritchard; R Llevadot; marga nadal; Mònica Gratacòs
A patient with autistic disorder and a 20/22 chromosomal translocation.
Developmental medicine and child neurology 1998;40(7):492-5.
1998: Roser Torra; Cèlia Badenas; Alejandro Darnell; J A Camacho; R Aspinwall; Peter C Harris; Xavier Estivill
Facilitated diagnosis of the contiguous gene syndrome: tuberous sclerosis and polycystic kidneys by means of haplotype studies.
American journal of kidney diseases : the official journal of the National Kidney Foundation 1998;31(6):1038-43.
1998: A Ruiz; Susana Puig; M Lynch; Teresa Castel; Xavier Estivill
Retention of the CDKN2A locus and low frequency of point mutations in primary and metastatic cutaneous malignant melanoma.
International journal of cancer. Journal international du cancer 1998;76(3):312-6.
1998: Roser Torra; Cèlia Badenas; Alejandro Darnell; Carlos Nicolau; V Volpini; L Revert; Xavier Estivill
[Clinical, genetic and molecular studies on autosomal dominant polycystic kidney disease].
Medicina clínica 1998;110(13):481-7.
1998: Elisabet Ars; Helena Kruyer; A Gaona; P Casquero; J Rosell; Victor Volpini; Eduard Serra; Conxi Lázaro; Xavier Estivill
A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene.
American journal of human genetics 1998;62(4):834-41.
1998: Miguel Angel Pujana; Victor Volpini; Xavier Estivill
Large CAG/CTG repeat templates produced by PCR, usefulness for the DIRECT method of cloning genes with CAG/CTG repeat expansions.
Nucleic acids research 1998;26(5):1352-3.
1998: R Llevadot; Xavier Estivill; P Scambler; M Pritchard
Isolation and genomic characterization of the TUPLE1/HIRA gene of the pufferfish Fugu rubripes.
Gene 1998;208(2):279-83.
1998: Xavier Estivill; Paolo Fortina; Saul Surrey; Raquel Rabionet; Salvatore Melchionda; L D'Agruma; ES Mansfield; E Rappaport; N Govea; M Milà; Leopoldo Zelante; Paolo Gasparini
Connexin-26 mutations in sporadic and inherited sensorineural deafness.
Lancet 1998;351(9100):394-8.
1998: Miguel Angel Pujana; Victor Volpini; M Gratacós; Jordi Corral; Isabel Banchs; A Sánchez; David Genís; C Cervera; Xavier Estivill
Uncloned expanded CAG/CTG repeat sequences in autosomal dominant cerebellar ataxia (ADCA) detected by the repeat expansion detection (RED) method.
Journal of medical genetics 1998;35(2):99-102.
1998: J Mallolas; Jaume Campistol; Nilo Lambruschini; Maria Antonia Vilaseca; Francisco J Cambra; Xavier Estivill; Montserrat Milà
Two novel mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with classic phenylketonuira and mild phenylketonuria. Mutations in brief no. 143. Online.
Human mutation 1998;11(6):482.
1998: Xavier Estivill; N Govea; E Barceló; C Badenas; E Romero; L Moral; R Scozzri; L D'Urbano; M Zeviani; Antonio Torroni
Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides.
American journal of human genetics 1998;62(1):27-35.
1998: Roser Torra; Cèlia Badenas; B Peral; Alejandro Darnell; Eduard Serra; V Gamble; A E Turco; Peter C Harris; Xavier Estivill
Recurrence of the PKD1 nonsense mutation Q4041X in Spanish, Italian, and British families.
Human mutation 1998;Suppl 1():S117-20.
1998: Teresa Casals; Maria Dolors Ramos; Javier Giménez; marga nadal; Virginia Nunes; Xavier Estivill
Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis.
Human mutation 1998;Suppl 1():S99-102.
1997: Teresa Casals; Maria Dolors Ramos; Javier Giménez; Sara Larriba; Virginia Nunes; Xavier Estivill
High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes.
Human genetics 1997;101(3):365-70.
1997: Susana Puig; A Ruiz; Teresa Castel; V Volpini; Josep Malvehy; F Cardellach; M Lynch; JM Mascaro; Xavier Estivill
Inherited susceptibility to several cancers but absence of linkage between dysplastic nevus syndrome and CDKN2A in a melanoma family with a mutation in the CDKN2A (P16INK4A) gene.
Human genetics 1997;101(3):359-64.
1997: Juan J Fuentes; C Pucharcós; M Pritchard; Xavier Estivill
Alu-splice PCR: a simple method to isolate exon-containing fragments from cloned human genomic DNA.
Human genetics 1997;101(3):346-50.
1997: Miguel Angel Pujana; M Gratacós; Jordi Corral; Isabel Banchs; A Sánchez; David Genís; C Cervera; Victor Volpini; Xavier Estivill
Polymorphisms at 13 expressed human sequences containing CAG/CTG repeats and analysis in autosomal dominant cerebellar ataxia (ADCA) patients.
Human genetics 1997;101(1):18-21.
1997: Joan B Soriano; G Ercilla; Jordi Sunyer; F X Real; Conxi Lázaro; María-José Rodrigo; Xavier Estivill; Josep Roca; R Rodríguez-Roisín; Ferran Morell; Josep M Antó
HLA class II genes in soybean epidemic asthma patients.
American journal of respiratory and critical care medicine 1997;156(5):1394-8.
1997: Montserrat Milà; A Sànchez; Cèlia Badenas; C Brun; Dolores Jiménez; M P Villa; Sergi Castellví-Bel; Xavier Estivill
Screening for FMR1 and FMR2 mutations in 222 individuals from Spanish special schools: identification of a case of FRAXE-associated mental retardation.
Human genetics 1997;100(5-6):503-7.
1997: J Guimera; C Pucharcós; A Domènech; caty casas; A Solans; T Gallardo; J Ashley; Michael Lovett; Xavier Estivill; M Pritchard
Cosmid contig and transcriptional map of three regions of human chromosome 21q22: identification of 37 novel transcripts by direct selection.
Genomics 1997;45(1):59-67.
1997: Juan J Fuentes; MA Pritchard; Xavier Estivill
Genomic organization, alternative splicing, and expression patterns of the DSCR1 (Down syndrome candidate region 1) gene.
Genomics 1997;44(3):358-61.
1997: Eduard Serra; Susana Puig; D Otero; A Gaona; Helena Kruyer; Elisabet Ars; Xavier Estivill; Conxi Lázaro
Confirmation of a double-hit model for the NF1 gene in benign neurofibromas.
American journal of human genetics 1997;61(3):512-9.
1997: Leopoldo Zelante; Paolo Gasparini; Xavier Estivill; Salvatore Melchionda; L D'Agruma; N Govea; M Milá; M D Monica; J Lutfi; M Shohat; ES Mansfield; Kathleen Delgrosso; E Rappaport; Saul Surrey; Paolo Fortina
Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans.
Human molecular genetics 1997;6(9):1605-9.
1997: Roser Torra; Cèlia Badenas; Alejandro Darnell; Concepció Brú; Angels Escorsell; Xavier Estivill
Autosomal dominant polycystic kidney disease with anticipation and Caroli's disease associated with a PKD1 mutation. Rapid communication.
Kidney international 1997;52(1):33-8.
1997: Miguel Angel Pujana; Lourdes Martorell; Victor Volpini; Joaquin Valero; Antonio Labad; Elisabet Vilella; Xavier Estivill
Analysis of amino-acid and nucleotide variants in the spinocerebellar ataxia type 1 (SCA1) gene in schizophrenic patients.
Human genetics 1997;99(6):772-5.
1997: Aurora Sánchez; Montserrat Milà; Sergi Castellví-Bel; M Calopa; D Genís; Dolores Jiménez; Xavier Estivill
[Molecular analysis of the IT15 gene in 79 Spanish families with Huntington's disease: diagnostic confirmation and presymptomatic diagnosis].
Medicina clínica 1997;108(18):687-90.
1997: Aurora Sánchez; Montserrat Milà; Sergi Castellví-Bel; M Rosich; Dolores Jiménez; Cèlia Badenas; Xavier Estivill
Maternal transmission in sporadic Huntington's disease.
Journal of neurology, neurosurgery, and psychiatry 1997;62(5):535-7.
1997: Yolanda Espinosa-Parrilla; M Morell; Juan Carlos Souto; Montserrat Borrell; DAMIA HEINE; Isabel Tirado; V Volpini; Xavier Estivill; Núria Sala
Absence of linkage between type III protein S deficiency and the PROS1 and C4BP genes in families carrying the protein S Heerlen allele.
Blood 1997;89(8):2799-806.
1997: Paolo Gasparini; Xavier Estivill; V Volpini; A Totaro; S Castellvi-Bel; N Govea; M Mila; M Della Monica; V Ventruto; M De Benedetto; P Stanziale; Leopoldo Zelante; ES Mansfield; L Sandkuijl; Saul Surrey; Paolo Fortina
Linkage of DFNB1 to non-syndromic neurosensory autosomal-recessive deafness in Mediterranean families.
European journal of human genetics : EJHG 1997;5(2):83-8.
1997: Lourdes Martorell; Miguel Angel Pujana; Victor Volpini; A Sanchez; Jorge Joven; Elisabet Vilella; Xavier Estivill
The repeat expansion detection method in the analysis of diseases with CAG/CTG repeat expansion: usefulness and limitations.
Human mutation 1997;10(6):486-8.
1997: Teresa Casals; P Pacheco; Celeste Barreto; Javier Giménez; Maria Dolors Ramos; S Pereira; J A Pinheiro; N Cobos; A Curvelo; C Vázquez; H Rocha; J L Séculi; E Pérez; J Dapena; E Carrilho; A Duarte; AM Palacio; Virginia Nunes; João Lavinha; Xavier Estivill
Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: study of 19 heterozygous and 2 homozygous patients.
Human mutation 1997;10(5):387-92.
1997: Antoni Barrientos; Jordi Casademont; David Genís; Francesc Cardellach; José Manuel Fernández-Real; J M Grau; Alvaro Urbano-Márquez; Xavier Estivill; V Nunes
Sporadic heteroplasmic single 5.5 kb mitochondrial DNA deletion associated with cerebellar ataxia, hypogonadotropic hypogonadism, choroidal dystrophy, and mitochondrial respiratory chain complex I deficiency.
Human mutation 1997;10(3):212-6.
1997: J Guimera; M Pritchard; marga nadal; Xavier Estivill
Minibrain (MNBH) is a single copy gene mapping to human chromosome 21q22.2.
Cytogenetics and cell genetics 1997;77(3-4):182-4.
1997: Xavier Estivill; C Bancells; C Ramos
Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium.
Human mutation 1997;10(2):135-54.
1997: marga nadal; S Moreno; M Pritchard; M A Preciado; Xavier Estivill; María Antonia Ramos-Arroyo
Down syndrome: characterisation of a case with partial trisomy of chromosome 21 owing to a paternal balanced translocation (15;21) (q26;q22.1) by FISH.
Journal of medical genetics 1997;34(1):50-4.
1996: R Llevadot; P Scambler; Xavier Estivill; M Pritchard
Genomic organization of TUPLE1/HIRA: a gene implicated in DiGeorge syndrome.
Mammalian genome : official journal of the International Mammalian Genome Society 1996;7(12):911-4.
1996: Aurora Sánchez; Sergi Castellví-Bel; Montserrat Milà; D Genis; M Calopa; Dolores Jiménez; Xavier Estivill
Huntington's disease: confirmation of diagnosis and presymptomatic testing in Spanish families by genetic analysis.
Journal of neurology, neurosurgery, and psychiatry 1996;61(6):625-7.
1996: Conxi Lázaro; A Gaona; P Ainsworth; R Tenconi; D Vidaud; Helena Kruyer; Elisabet Ars; Victor Volpini; Xavier Estivill
Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients.
Human genetics 1996;98(6):696-9.
1996: Roser Torra; Carlos Nicolau; Cèlia Badenas; Concepció Brú; L Pérez; Xavier Estivill; Alejandro Darnell
Abdominal aortic aneurysms and autosomal dominant polycystic kidney disease.
Journal of the American Society of Nephrology : JASN 1996;7(11):2483-6.
1996: J Purroy; Luigi Bisceglia; M J Calonge; Leopoldo Zelante; Xavier Testar; Antonio Zorzano; Xavier Estivill; Manuel Palacín; Virginia Nunes; Paolo Gasparini
Genomic structure and organization of the human rBAT gene (SLC3A1).
Genomics 1996;37(2):249-52.
1996: C Vazquez; Guillermo Antiñolo; Teresa Casals; J Dapena; J Elorz; J L Seculi; J Sirvent; R Cabanas; C Soler; Xavier Estivill
Thirteen cystic fibrosis patients, 12 compound heterozygous and one homozygous for the missense mutation G85E: a pancreatic sufficiency/insufficiency mutation with variable clinical presentation.
Journal of medical genetics 1996;33(10):820-2.
1996: Roser Torra; Cèlia Badenas; Alejandro Darnell; Carlos Nicolau; V Volpini; L Revert; Xavier Estivill
Linkage, clinical features, and prognosis of autosomal dominant polycystic kidney disease types 1 and 2.
Journal of the American Society of Nephrology : JASN 1996;7(10):2142-51.
1996: marga nadal; Montserrat Milà; M Pritchard; A Mur; J Pujals; J L Blouin; Stylianos Antonarakis; F Ballesta; Xavier Estivill
YAC and cosmid FISH mapping of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome.
Human genetics 1996;98(4):460-6.
1996: Luigi Bisceglia; M J Calonge; Luca Dello Strologo; Gianfranco Rizzoni; Luisa de Sanctis; M Gallucci; E Beccia; Xavier Testar; Antonio Zorzano; Xavier Estivill; Leopoldo Zelante; M Palacin; Paolo Gasparini; Virginia Nunes
Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism.
Human genetics 1996;98(4):447-51.
1996: Montserrat Milà; Sergi Castellví-Bel; R Giné; C Vazquez; Cèlia Badenas; Aurora Sánchez; Xavier Estivill
A female compound heterozygote (pre- and full mutation) for the CGG FMR1 expansion.
Human genetics 1996;98(4):419-21.
1996: Miguel Angel Pujana; Victor Volpini; Xavier Estivill
Cloning (CAG/GTC)n STSs by an Alu-(CAG/GTC)n PCR method: an approach to human chromosome 12 and spinocerebellar ataxia 2 (SCA2).
Nucleic acids research 1996;24(18):3651-2.
1996: J Guimerá; caty casas; C Pucharcòs; A Solans; A Domènech; A M Planas; J Ashley; Michael Lovett; Xavier Estivill; M A Pritchard
A human homologue of Drosophila minibrain (MNB) is expressed in the neuronal regions affected in Down syndrome and maps to the critical region.
Human molecular genetics 1996;5(9):1305-10.
1996: Burkhard Tümmler; T Storrs; V Dziadek; Thilo Dörk; Thomas Meitinger; Astrid Golla; R M Bertele-Harms; H K Harms; E Schröder; A Claass; J Rutjes; Reinhard Schneppenheim; I Bauer; K Breuel; Manfred Stuhrmann; Jörg Schmidtke; M Lindner; Antonin Eigel; Jürgen Horst; R Kaiser; M J Lentze; K Schmidt; H von der Hardt; Xavier Estivill
Geographic distribution and origin of CFTR mutations in Germany.
Human genetics 1996;97(6):727-31.
1996: Roser Torra; L Alós; J Ramos; Xavier Estivill
Renal-hepatic-pancreatic dysplasia: an autosomal recessive malformation.
Journal of medical genetics 1996;33(5):409-12.
1996: Antoni Barrientos; Jordi Casademont; A Saiz; Francesc Cardellach; Victor Volpini; A Solans; E Tolosa; A Urbano-Marquez; Xavier Estivill; V Nunes
Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion.
American journal of human genetics 1996;58(5):963-70.
1996: Montserrat Milà; Sergi Castellví-Bel; Aurora Sánchez; Conxi Lázaro; M Villa; Xavier Estivill
Mosaicism for the fragile X syndrome full mutation and deletions within the CGG repeat of the FMR1 gene.
Journal of medical genetics 1996;33(4):338-40.
1996: Antoni Barrientos; Victor Volpini; Jordi Casademont; David Genís; J M Manzanares; Isidro Ferrer; J Corral; Francesc Cardellach; Alvaro Urbano-Márquez; Xavier Estivill; V Nunes
A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome.
The Journal of clinical investigation 1996;97(7):1570-6.
1996: Teresa Casals; J Gimenez; Maria Dolors Ramos; Virginia Nunes; Xavier Estivill
Prenatal diagnosis of cystic fibrosis in a highly heterogeneous population.
Prenatal diagnosis 1996;16(3):215-22.
1996: A Barceló; ML Girós; V J Albiach; J Vaquerizo; Teresa Pàmpols; Xavier Estivill
Identification of two new nonsense mutations (Q311X and W326X) in Exon 2 of the adrenoleukodystrophy (ALD) gene.
Human mutation 1996;8(3):286-7.
1996: J M Soria; M Morell; I Nicolau; Xavier Estivill; Núria Sala
Homozygosity for R87H missense mutation and for a rare intron 7 DNA variant (7054G --> A) in the PROC genes of three siblings initially classified as heterozygotes for protein C deficiency.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 1996;7(1):15-23.
1996: N Morral; Thilo Dörk; R Llevadot; V Dziadek; Bernard Mercier; Claude Férec; Bruno Costes; Emmanuelle Girodon; Julian Zielenski; L C Tsui; Burkhard Tümmler; Xavier Estivill
Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers.
Human mutation 1996;8(2):149-59.
1996: A Bosch; J Guimerà; Sharon L Graw; Katheleen Gardiner; I Chumakov; D Patterson; Xavier Estivill
Integration of 30 CA-repeat markers into the cytogenetic, genetic and YAC maps of human chromosome 21.
European journal of human genetics : EJHG 1996;4(3):135-42.
1995: Conxi Lázaro; A Gaona; M Lynch; Helena Kruyer; A Ravella; Xavier Estivill
Molecular characterization of the breakpoints of a 12-kb deletion in the NF1 gene in a family showing germ-line mosaicism.
American journal of human genetics 1995;57(5):1044-9.
1995: M J Calonge; V Volpini; Luigi Bisceglia; F Rousaud; Luisa de Sanctis; E Beccia; Leopoldo Zelante; Xavier Testar; Antonio Zorzano; Xavier Estivill
Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria.
Proceedings of the National Academy of Sciences of the United States of America 1995;92(21):9667-71.
1995: J J Fuentes; M A Pritchard; A M Planas; A Bosch; Isidro Ferrer; Xavier Estivill
A new human gene from the Down syndrome critical region encodes a proline-rich protein highly expressed in fetal brain and heart.
Human molecular genetics 1995;4(10):1935-44.
1995: Sergi Castellví-Bel; Montserrat Milà; Anna Soler; Ana Carrió; Aurora Sánchez; M Villa; M D Jiménez; Xavier Estivill
Prenatal diagnosis of fragile X syndrome: (CGG)n expansion and methylation of chorionic villus samples.
Prenatal diagnosis 1995;15(9):801-7.
1995: Conxi Lázaro; Helena Kruyer; A Gaona; Xavier Estivill
Two further cases of mutation R1947X in the NF1 gene: screening for a relatively common recurrent mutation.
Human genetics 1995;96(3):361-3.
1995: Susana Puig; A Ruiz; Conxi Lázaro; Teresa Castel; M Lynch; Josep Palou; A Vilalta; J Weissenbach; J M Mascaro; Xavier Estivill
Chromosome 9p deletions in cutaneous malignant melanoma tumors: the minimal deleted region involves markers outside the p16 (CDKN2) gene.
American journal of human genetics 1995;57(2):395-402.
1995: Antoni Barrientos; J Casademont; A Solans; P Moral; F Cardellach; A Urbano-Márquez; Xavier Estivill; V Nunes
The 9-bp deletion in region V of mitochondrial DNA: evidence of mutation recurrence.
Human genetics 1995;96(2):225-8.
1995: Maria Dolors Ramos; C Lalueza; E Girbau; Alejandro Pérez-Pérez; S Quevedo; Daniel Turbón; Xavier Estivill
Amplifying dinucleotide microsatellite loci from bone and tooth samples of up to 5000 years of age: more inconsistency than usefulness.
Human genetics 1995;96(2):205-12.
1995: M J Calonge; marga nadal; S Calvano; Xavier Testar; Leopoldo Zelante; Antonio Zorzano; Xavier Estivill; Paolo Gasparini; Manuel Palacín; Virginia Nunes
Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization.
Human genetics 1995;95(6):633-6.
1995: A Bosch; J Guimerà; D Patterson; Xavier Estivill
Characterisation of three microsatellite polymorphisms (D21S1262, D21S1419 and D21S1421) from band 21q22.1.
Human genetics 1995;95(5):596-8.
1995: A Bosch; J Guimerà; S Wiemann; W Ansorge; D Patterson; Xavier Estivill
Identification of two highly polymorphic CA-repeats (D21S1224 and D21S1261) on human chromosome 21q22.3.
Human genetics 1995;95(3):367-9.
1995: Xavier Estivill; luis ortigosa; J Pérez-Frias; J Dapena; J Ferrer; L Peña; L Peña; R Llevadot; Javier Giménez; Virginia Nunes
Clinical characteristics of 16 cystic fibrosis patients with the missense mutation R334W, a pancreatic insufficiency mutation with variable age of onset and interfamilial clinical differences.
Human genetics 1995;95(3):331-6.
1995: M Chillón; Thilo Dörk; Teresa Casals; Javier Giménez; N Fonknechten; K Will; D Ramos; Virginia Nunes; Xavier Estivill
A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA-->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype.
American journal of human genetics 1995;56(3):623-9.
1995: A Barceló; ML Girós; C O Sarde; G Pintos; J L Mandel; Teresa Pàmpols; Xavier Estivill
De novo missense mutation Y174S in exon 1 of the adrenoleukodystrophy (ALD) gene.
Human genetics 1995;95(2):235-7.
1995: Dolors Costa; Antoni Borrell; Ester Margarit; Ana Carrió; Anna Soler; I Balmes; Xavier Estivill; Albert Fortuny
Rapid fetal karyotype from cystic hygroma and pleural effusions.
Prenatal diagnosis 1995;15(2):141-8.
1995: C Lazaro; A Gaona; A Ravella; Victor Volpini; Xavier Estivill
Prenatal diagnosis of neurofibromatosis type 1: from flanking RFLPs to intragenic microsatellite markers.
Prenatal diagnosis 1995;15(2):129-34.
1995: Teresa Casals; L Bassas; J Ruiz-Romero; M Chillón; Javier Giménez; Maria Dolors Ramos; G Tapia; H Narváez; Virginia Nunes; Xavier Estivill
Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected.
Human genetics 1995;95(2):205-11.
1995: Roser Torra; Alejandro Darnell; Xavier Estivill; A Botey; L Revert
Interfamilial and intrafamilial variability of clinical expression in ADPKD.
Contributions to nephrology 1995;115():97-101.
1995: D Genis; T Matilla; Victor Volpini; J Rosell; Antoni Dávalos; Isidro Ferrer; A Molins; Xavier Estivill
Clinical, neuropathologic, and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindred: (CAG)n expansion and early premonitory signs and symptoms.
Neurology 1995;45(1):24-30.
1995: A Bosch; S Wiemann; J Guimerà; W Ansorge; D Patterson; Xavier Estivill
Five new microsatellite polymorphisms at the q21 region of human chromosome 21.
Human genetics 1995;95(1):119-22.
1994: Conxi Lázaro; A Ravella; A Gaona; Victor Volpini; Xavier Estivill
Neurofibromatosis type 1 due to germ-line mosaicism in a clinically normal father.
The New England journal of medicine 1994;331(21):1403-7.
1994: Jordi Casademont; Antoni Barrientos; F Cardellach; A Rötig; Josep M Grau; Julio Montoya; B Beltrán; F Cervantes; Ciril Rozman; Xavier Estivill
Multiple deletions of mtDNA in two brothers with sideroblastic anemia and mitochondrial myopathy and in their asymptomatic mother.
Human molecular genetics 1994;3(11):1945-9.
1994: N Morral; R Llevadot; Teresa Casals; Paolo Gasparini; Milan Macek Jr.; Thilo Dörk; Xavier Estivill
Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC-->T provide evidence of mutation recurrence in the CFTR gene.
American journal of human genetics 1994;55(5):890-8.
1994: A Barceló; ML Girós; C O Sarde; A Martínez-Bermejo; J L Mandel; Teresa Pàmpols; Xavier Estivill
Identification of a new frameshift mutation (1801delAG) in the ALD gene.
Human molecular genetics 1994;3(10):1889-90.
1994: Sergi Castellví-Bel; T Matilla; M I Banchs; Helena Kruyer; Jordi Corral; Montserrat Milà; Xavier Estivill
Chemiluminescent detection of blotted PCR products (CB-PCR) of two CAG dynamic mutations (Huntington's disease and spinocerebellar ataxia type 1).
Journal of medical genetics 1994;31(8):654-5.
1994: J M Soria; J Fontcuberta; Montserrat Borrell; Xavier Estivill; Núria Sala
Two novel mutations in exon 5 of the protein C gene in two Spanish families with thrombophilia due to protein C deficiency.
Human molecular genetics 1994;3(7):1205-6.
1994: J M Soria; D Brito; J Barceló; J Fontcuberta; L Botero; J Maldonado; Xavier Estivill; Núria Sala
Severe homozygous protein C deficiency: identification of a splice site missense mutation (184, Q-->H) in exon 7 of the protein C gene.
Thrombosis and haemostasis 1994;72(1):65-9.
1994: N Morral; Jaume Bertranpetit; Xavier Estivill; Virginia Nunes; Teresa Casals; Javier Giménez; A Reis; R Varon-Mateeva; M Macek; Luba Kalaydjieva
The origin of the major cystic fibrosis mutation (delta F508) in European populations.
Nature genetics 1994;7(2):169-75.
1994: M Chillón; Teresa Casals; Javier Giménez; Virginia Nunes; Xavier Estivill
A cystic fibrosis patient homozygous for the new frameshift mutation 936delTA: description and clinical data.
Journal of medical genetics 1994;31(5):369-70.
1994: M Chillón; Teresa Casals; Javier Giménez; Maria Dolors Ramos; A Palacio; N Morral; Xavier Estivill; Virginia Nunes
Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes.
Human genetics 1994;93(4):447-51.
1994: A Bosch; S Wiemann; W Ansorge; D Patterson; Xavier Estivill
Three CA/GT repeat polymorphisms from loci D21S414 and D21S1234 on human chromosome 21.
Human genetics 1994;93(3):359-60.
1994: Conxi Lázaro; A Gaona; Xavier Estivill
Two CA/GT repeat polymorphisms in intron 27 of the human neurofibromatosis (NF1) gene.
Human genetics 1994;93(3):351-2.
1994: Helena Kruyer; Montserrat Milà; G Glover; P Carbonell; F Ballesta; Xavier Estivill
Fragile X syndrome and the (CGG)n mutation: two families with discordant MZ twins.
American journal of human genetics 1994;54(3):437-42.
1994: T Matilla; Jordi Corral; M Miranda; J Troyano; K Morrison; Victor Volpini; Xavier Estivill
Prenatal diagnosis of Werdnig-Hoffmann disease: DNA analysis of a mummified umbilical cord using closely linked microsatellite markers.
Prenatal diagnosis 1994;14(3):219-22.
1994: Helena Kruyer; M Miranda; Victor Volpini; Xavier Estivill
Carrier detection and microsatellite analysis of Duchenne and Becker muscular dystrophy in Spanish families.
Prenatal diagnosis 1994;14(2):123-30.
1994: Juha Kere; Xavier Estivill; M Chillón; N Morral; Virginia Nunes; Reijo Norio; E Savilahti; Albert de La Chapelle
Cystic fibrosis in a low-incidence population: two major mutations in Finland.
Human genetics 1994;93(2):162-6.
1994: I Banchs; A Bosch; J Guimerà; C Lázaro; A Puig; Xavier Estivill
New alleles at microsatellite loci in CEPH families mainly arise from somatic mutations in the lymphoblastoid cell lines.
Human mutation 1994;3(4):365-72.
1994: A Bosch; J Guimerà; A Pereira de Souza; Xavier Estivill
The EUROGEM map of human chromosome 21.
European journal of human genetics : EJHG 1994;2(3):244-5.
1994: A Bosch; I Banchs; A Puig; Gilles Vergnaud; V Allamand; Xavier Estivill
The EUROGEM map of human chromosome 12.
European journal of human genetics : EJHG 1994;2(3):226-7.
1994: M Chillón; Teresa Casals; Javier Giménez; Virginia Nunes; Xavier Estivill
Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G-->A, and 3667del4).
Human mutation 1994;3(3):223-30.
1993: T Matilla; Victor Volpini; David Genís; J Rosell; Jordi Corral; Antoni Dávalos; A Molins; Xavier Estivill
Presymptomatic analysis of spinocerebellar ataxia type 1 (SCA1) via the expansion of the SCA1 CAG-repeat in a large pedigree displaying anticipation and parental male bias.
Human molecular genetics 1993;2(12):2123-8.
1993: J J Fuentes; Victor Volpini; F Fernández-Toral; E Coto; Xavier Estivill
Identification of two new missense mutations (K58N and R121Q) in the Norrie disease (ND) gene in two Spanish families.
Human molecular genetics 1993;2(11):1953-5.
1993: A Bosch; Virginia Nunes; D Patterson; Xavier Estivill
Isolation and characterization of 14 CA-repeat microsatellites from human chromosome 21.
Genomics 1993;18(1):151-5.
1993: A Bosch; S Wiemann; J Guimerà; W Ansorge; D Patterson; Xavier Estivill
Two dinucleotide repeat polymorphisms at 21q22.3 (D21S416 and D21S1235).
Human molecular genetics 1993;2(10):1744.
1993: Conxi Lázaro; A Gaona; G Xu; R Weiss; Xavier Estivill
A highly informative CA/GT repeat polymorphism in intron 38 of the human neurofibromatosis type 1 (NF1) gene.
Human genetics 1993;92(4):429-30.
1993: M Chillón; Teresa Casals; Virginia Nunes; Javier Giménez; E Pérez Ruiz; Xavier Estivill
Identification of a new missense mutation (P205S) in the first transmembrane domain of the CFTR gene associated with a mild cystic fibrosis phenotype.
Human molecular genetics 1993;2(10):1741-2.
1993: M Chillón; Teresa Casals; Virginia Nunes; Javier Giménez; Xavier Estivill
Identification of a 31-bp insertion (3860ins31) in exon 20 of the cystic fibrosis (CFTR) gene.
Human molecular genetics 1993;2(8):1317-8.
1993: J Bertran; Andreas Werner; J Chillarón; Virginia Nunes; Jürg Biber; Xavier Testar; Antonio Zorzano; Xavier Estivill; Heini Murer; Manuel Palacín
Expression cloning of a human renal cDNA that induces high affinity transport of L-cystine shared with dibasic amino acids in Xenopus oocytes.
The Journal of biological chemistry 1993;268(20):14842-9.
1993: N Morral; Virginia Nunes; Teresa Casals; M Chillón; Javier Giménez; Jaume Bertranpetit; Xavier Estivill
Microsatellite haplotypes for cystic fibrosis: mutation frameworks and evolutionary tracers.
Human molecular genetics 1993;2(7):1015-22.
1993: Conxi Lázaro; A Gaona; A Ravella; Victor Volpini; Teresa Casals; J J Fuentes; Xavier Estivill
Novel alleles, hemizygosity and deletions at an Alu-repeat within the neurofibromatosis type 1 (NF1) gene.
Human molecular genetics 1993;2(6):725-30.
1993: N Morral; Virginia Nunes; Teresa Casals; N Cobos; O Asensio; J Dapena; Xavier Estivill
Uniparental inheritance of microsatellite alleles of the cystic fibrosis gene (CFTR): identification of a 50 kilobase deletion.
Human molecular genetics 1993;2(6):677-81.
1993: Teresa Casals; Virginia Nunes; A Palacio; Javier Giménez; A Gaona; N Ibáñez; N Morral; Xavier Estivill
Cystic fibrosis in Spain: high frequency of mutation G542X in the Mediterranean coastal area.
Human genetics 1993;91(1):66-70.
1993: J J Fuentes; Isabel Banchs; Victor Volpini; Xavier Estivill
Genetic variation of microsatellite markers D1S117, D6S89, D11S35, APOC2, and D21S168 in the Spanish population.
International journal of legal medicine 1993;105(5):271-7.
1993: Virginia Nunes; M Chillón; Thilo Dörk; B Tümmler; Teresa Casals; Xavier Estivill
A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype.
Human molecular genetics 1993;2(1):79-80.
1992: M Chillón; A Palacio; Virginia Nunes; Xavier Estivill
A rare DNA variant in exon 15 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Human genetics 1992;90(4):474.
1992: Conxi Lázaro; Xavier Estivill
Mutation analysis of genetic diseases by asymmetric-PCR SSCP and ethidium bromide staining: application to neurofibromatosis and cystic fibrosis.
Molecular and cellular probes 1992;6(5):357-9.
1992: Xavier Estivill
[Human genetics: diagnostic and preventive impact of new genetics in medicine].
Medicina clínica 1992;99(7):265-72.
1992: N Morral; Xavier Estivill
Multiplex PCR amplification of three microsatellites within the CFTR gene.
Genomics 1992;13(4):1362-4.
1992: Virginia Nunes; Alberto Bonizzato; A Gaona; M Dognini; M Chillón; Teresa Casals; Pier Franco Pignatti; Giuseppe Novelli; Xavier Estivill; Paolo Gasparini
A frameshift mutation (2869insG) in the second transmembrane domain of the CFTR gene: identification, regional distribution, and clinical presentation.
American journal of human genetics 1992;50(5):1140-2.
1992: Teresa Casals; C Vázquez; Conxi Lázaro; E Girbau; F J Giménez; Xavier Estivill
Cystic fibrosis in the Basque country: high frequency of mutation delta F508 in patients of Basque origin.
American journal of human genetics 1992;50(2):404-10.
1992: C Lazaro; A Ravella; Teresa Casals; Victor Volpini; Xavier Estivill
Prenatal diagnosis of sporadic neurofibromatosis 1.
Lancet 1992;339(8785):119-20.
1992: N Morral; E Girbau; Julian Zielenski; Virginia Nunes; Teresa Casals; L C Tsui; Xavier Estivill
Dinucleotide (CA/GT) repeat polymorphism in intron 17B of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Human genetics 1992;88(3):356.
1992: J M Soria; J Fontcuberta; Montserrat Borrell; Xavier Estivill; Núria Sala
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.
Human mutation 1992;1(5):428-31.
1992: Virginia Nunes; Teresa Casals; A Gaona; Guillermo Antiñolo; J Ferrer-Calvete; J Pérez-Frias; E Tardío; J Molano; Xavier Estivill
Cystic fibrosis patients with mutation 1949del84 in exon 13 of the CFTR gene have a similar clinical severity as delta F508 homozygotes.
Human mutation 1992;1(5):375-9.
1992: M Chillón; A Palacio; Virginia Nunes; Teresa Casals; Javier Giménez; Xavier Estivill
Identification of a frameshift mutation (1609delCA) in exon 10 of the CFTR gene in seven Spanish cystic fibrosis patients.
Human mutation 1992;1(1):75-6.
1991: Xavier Estivill; Conxi Lázaro; Teresa Casals; A Ravella
Recurrence of a nonsense mutation in the NF1 gene causing classical neurofibromatosis type 1.
Human genetics 1991;88(2):185-8.
1991: M Chillón; Virginia Nunes; Xavier Estivill
SSCP-polymorphism in intron 12 of the CFTR gene recognized by BcII.
Nucleic acids research 1991;19(22):6343.
1991: Teresa Casals; Virginia Nunes; Conxi Lázaro; F J Giménez; E Girbau; Victor Volpini; Xavier Estivill
Mutation and linkage disequilibrium analysis in genetic counselling of Spanish cystic fibrosis families.
Journal of medical genetics 1991;28(11):771-6.
1991: Xavier Estivill; N Morral; Teresa Casals; V Nunes
Prenatal diagnosis of cystic fibrosis by multiplex PCR of mutation and microsatellite alleles.
Lancet 1991;338(8764):458.
1991: Virginia Nunes; A Gaona; Miguel Chillon; P Maña; Teresa Casals; Garry R Cutting; Xavier Estivill
Prenatal diagnosis of cystic fibrosis by simultaneous analysis of two different mutations.
Prenatal diagnosis 1991;11(8):671-2.
1991: Paolo Gasparini; Virginia Nunes; M Dognini; Xavier Estivill
High conservation of sequences involved in cystic fibrosis mutations in five mammalian species.
Genomics 1991;10(4):1070-2.
1991: N Morral; Virginia Nunes; Teresa Casals; Xavier Estivill
CA/GT microsatellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossingover.
Genomics 1991;10(3):692-8.
1991: A Bosch; Helena Kruyer; Virginia Nunes; Xavier Estivill
MspI restriction fragment length polymorphism near exon 10 of cystic fibrosis (CFTR) gene.
Nucleic acids research 1991;19(7):1719.
1991: Paolo Gasparini; M Dognini; Alberto Bonizzato; Pier Franco Pignatti; N Morral; Xavier Estivill
A tetranucleotide repeat polymorphism in the cystic fibrosis gene.
Human genetics 1991;86(6):625.
1990: Juha Kere; E Savilahti; Reijo Norio; Xavier Estivill; Albert de La Chapelle
Cystic fibrosis mutation delta F508 in Finland: other mutations predominate.
Human genetics 1990;85(4):413-5.
1990: M Chillón; Virginia Nunes; Teresa Casals; F J Giménez; E Fernández; J Benítez; Xavier Estivill
Distribution of the delta F508 mutation in 194 Spanish cystic fibrosis families.
Human genetics 1990;85(4):396-7.
1990: Virginia Nunes; M Chillón; N Lench; M Ramsay; Xavier Estivill
PCR detection of the pKM.19/ScrfI RFLP (D7S23), a marker closely linked to the cystic fibrosis mutation.
Nucleic acids research 1990;18(16):4957.
1990: T Casals; Virginia Nunes; Xavier Estivill
A polymorphic DNA probe from chromosome 7 (7q22).
Nucleic acids research 1990;18(10):3108.
1990: M Chillón; Teresa Casals; F J Giménez; H Badía; N Morral; A Bosch; Virginia Nunes; Xavier Estivill
[Use of the polymerase chain reaction technic in the genetic analysis of cystic fibrosis].
Medicina clínica 1990;94(12):444-7.
1990: Virginia Nunes; M Ramsay; Teresa Casals; M Chillón; N Lench; M Schwartz; Xavier Estivill
ScrfI restriction fragment length polymorphism at the D7S23 locus (probe pKM. 19), closely linked to cystic fibrosis.
Nucleic acids research 1990;18(5):1318.
1990: Paolo Gasparini; Giuseppe Novelli; Xavier Estivill; D Olivieri; A Savoia; A Ruzzo; Virginia Nunes; G Borgo; M Antonelli; R Williamson
The genotype of a new linked DNA marker, MP6d-9, is related to the clinical course of cystic fibrosis.
Journal of medical genetics 1990;27(1):17-20.
1989: Xavier Estivill; Miguel Chillon; Teresa Casals; A Bosch; N Morral; V Nunes; Paolo Gasparini; A Seia; P F Pignatti; Giuseppe Novelli
Delta F508 gene deletion in cystic fibrosis in southern Europe.
Lancet 1989;2(8676):1404.
1989: Virginia Nunes; Teresa Casals; P Gallano; F J Giménez; J Kere; R Williamson; Xavier Estivill
Detection of a rare allele with the pMP6d-9/MspI RFLP near the cystic fibrosis locus.
Human genetics 1989;83(3):305-6.
1989: Xavier Estivill; Paolo Gasparini; Giuseppe Novelli; Teresa Casals; Virginia Nunes; P Gallano; A Savoia; A Ruzzo; Bruno Dallapiccola; Pier Franco Pignatti
Linkage disequilibrium for DNA haplotypes near the cystic fibrosis locus in two south European populations.
Human genetics 1989;83(2):175-8.
1989: Juha Kere; Reijo Norio; E Savilahti; Xavier Estivill; Albert de La Chapelle
Cystic fibrosis in Finland: a molecular and genealogical study.
Human genetics 1989;83(1):20-5.
1989: Xavier Estivill; C McLean; Virginia Nunes; Teresa Casals; P Gallano; P Scambler; R Williamson
Isolation of a new DNA marker in linkage disequilibrium with cystic fibrosis, situated between J3.11 (D7S8) and IRP.
American journal of human genetics 1989;44(5):704-10.