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Xavier Estivill

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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Publications

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Ribasés Marta; Bosch Rosa; Hervás Amaia; Ramos-Quiroga Josep Antoni; Sánchez-Mora Cristina; Bielsa Anna; Gastaminza Xavier; Guijarro-Domingo Sílvia; Nogueira Mariana; Gómez-Barros Núria; Kreiker Susanne; Gross-Lesch Silke; Jacob Christian P; Lesch Klaus-Peter; Reif Andreas; Johansson Stefan; Plessen Kerstin J; Knappskog Per M; Haavik Jan; Estivill Xavier; Casas Miguel; Bayés Mònica; Cormand Bru
Case-control study of six genes asymmetrically expressed in the two cerebral hemispheres: association of BAIAP2 with attention-deficit/hyperactivity disorder.
Ogorelkova Miroslava; Navarro Arcadi; Vivarelli Francesca; Ramirez-Soriano Anna; Estivill Xavier
Positive selection and gene conversion drive the evolution of a brain-expressed snoRNAs cluster.
Hammer Christian; Kapeller Johannes; Endele Max; Fischer Christine; Hebebrand Johannes; Hinney Anke; Friedel Susann; Gratacòs Mònica; Estivill Xavier; Fichter Manfred; Fernández-Aranda Fernando; Ehrlich Stefan; Rappold Gudrun; Niesler Beate
Functional variants of the serotonin receptor type 3A and B gene are associated with eating disorders.

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All Publications

2009: Ribasés Marta; Bosch Rosa; Hervás Amaia; Ramos-Quiroga Josep Antoni; Sánchez-Mora Cristina; Bielsa Anna; Gastaminza Xavier; Guijarro-Domingo Sílvia; Nogueira Mariana; Gómez-Barros Núria; Kreiker Susanne; Gross-Lesch Silke; Jacob Christian P; Lesch Klaus-Peter; Reif Andreas; Johansson Stefan; Plessen Kerstin J; Knappskog Per M; Haavik Jan; Estivill Xavier; Casas Miguel; Bayés Mònica; Cormand Bru
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: Ogorelkova Miroslava; Navarro Arcadi; Vivarelli Francesca; Ramirez-Soriano Anna; Estivill Xavier
Positive selection and gene conversion drive the evolution of a brain-expressed snoRNAs cluster.
Molecular biology and evolution 2009;26(11):2563-71.
2009: Hammer Christian; Kapeller Johannes; Endele Max; Fischer Christine; Hebebrand Johannes; Hinney Anke; Friedel Susann; Gratacòs Mònica; Estivill Xavier; Fichter Manfred; Fernández-Aranda Fernando; Ehrlich Stefan; Rappold Gudrun; Niesler Beate
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: Real Eva; Gratacòs Mònica; Soria Virginia; Escaramís Geòrgia; Alonso Pino; Segalàs Cinto; Bayés Mònica; de Cid Rafael; Menchón José M; Estivill Xavier
A brain-derived neurotrophic factor haplotype is associated with therapeutic response in obsessive-compulsive disorder.
Biological psychiatry 2009;66(7):674-80.
2009: Gratacòs Mònica; Costas Javier; de Cid Rafael; Bayés Mònica; González Juan R; Baca-García Enrique; de Diego Yolanda; Fernández-Aranda Fernando; Fernández-Piqueras José; Guitart Miriam; Martín-Santos Rocío; Martorell Lourdes; Menchón José M; Roca Miquel; Sáiz-Ruiz Jerónimo; Sanjuán Julio; Torrens Marta; Urretavizcaya Mikel; Valero Joaquín; Vilella Elisabet; Estivill Xavier; Carracedo Angel;
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: Dierssen Mara; Herault Yann; Estivill Xavier
Aneuploidy: from a physiological mechanism of variance to Down syndrome.
Physiological reviews 2009;89(3):887-920.
2009: Muiños-Gimeno Margarita; Guidi Monica; Kagerbauer Birgit; Martín-Santos Rocío; Navinés Ricard; Alonso Pino; Menchón José M; Gratacòs Mònica; Estivill Xavier; Espinosa-Parrilla Yolanda
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: Ponsa Immaculada; Ramos-Quiroga Josep Antoni; Ribasés Marta; Bosch Rosa; Bielsa Anna; Ordeig Maria Teresa; Morell Marta; Miró Rosa; de Cid Rafael; Estivill Xavier; Casas Miquel; Bayés Mònica; Cormand Bru; Hervás Amaia
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: Morales Eva; Sunyer Jordi; Julvez Jordi; Castro-Giner Francesc; Estivill Xavier; Torrent Maties; De Cid Rafael
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: Forcano Laura; Fernández-Aranda Fernando; Alvarez-Moya Eva; Bulik Cynthia; Granero Roser; Gratacòs Mònica; Jiménez-Murcia Susana; Krug Isabel; Mercader Josep M; Riesco Nadine; Saus Ester; Santamaría Juan José; Estivill Xavier
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: Toll-Riera Macarena; Bosch Nina; Bellora Nicolás; Castelo Robert; Armengol Lluis; Estivill Xavier; Albà M Mar
Origin of primate orphan genes: a comparative genomics approach.
Molecular biology and evolution 2009;26(3):603-12.
2009: Beà Sílvia; Salaverria Itziar; Armengol Lluís; Pinyol Magda; Fernández Verónica; Hartmann Elena M; Jares Pedro; Amador Virginia; Hernández Luís; Navarro Alba; Ott German; Rosenwald Andreas; Estivill Xavier; Campo Elias
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: de Cid Rafael; Riveira-Munoz Eva; Zeeuwen Patrick L J M; Robarge Jason; Liao Wilson; Dannhauser Emma N; Giardina Emiliano; Stuart Philip E; Nair Rajan; Helms Cynthia; Escaramís Georgia; Ballana Ester; Martín-Ezquerra Gemma; den Heijer Martin; Kamsteeg Marijke; Joosten Irma; Eichler Evan E; Lázaro Conxi; Pujol Ramón M; Armengol Lluís; Abecasis Gonçalo; Elder James T; Novelli Giuseppe; Armour John A L; Kwok Pui-Yan; Bowcock Anne; Schalkwijk Joost; Estivill Xavier
Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis.
Nature genetics 2009;41(2):211-5.
2009: Zadro Cristina; Alemanno Maria Stella; Bellacchio Emanuele; Ficarella Romina; Donaudy Francesca; Melchionda Salvatore; Zelante Leopoldo; Rabionet Raquel; Hilgert Nele; Estivill Xavier; Van Camp Guy; Gasparini Paolo; Carella Massimo
Are MYO1C and MYO1F associated with hearing loss?
Biochimica et biophysica acta 2009;1792(1):27-32.
2009: Armengol Lluís; Villatoro Sergi; González Juan R; Pantano Lorena; García-Aragonés Manel; Rabionet Raquel; Cáceres Mario; Estivill Xavier
Identification of copy number variants defining genomic differences among major human groups.
PloS one 2009;4(9):e7230.
2009: González Juan R; Subirana Isaac; Escaramís Geòrgia; Peraza Solymar; Cáceres Alejandro; Estivill Xavier; Armengol Lluís
Accounting for uncertainty when assessing association between copy number and disease: a latent class model.
BMC bioinformatics 2009;10():172.
2008: Morales Eva; Sunyer Jordi; Castro-Giner Francesc; Estivill Xavier; Julvez Jordi; Ribas-Fitó Nuria; Torrent Maties; Grimalt Joan O; de Cid Rafael
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: Mercader Josep Maria; Lozano Juan José; Sumoy Lauro; Dierssen Mara; Visa Joana; Gratacòs Mònica; Estivill Xavier
Hypothalamus transcriptome profile suggests an anorexia-cachexia syndrome in the anx/anx mouse model.
Physiological genomics 2008;35(3):341-50.
2008: Ortiz-Abalia Jon; Sahún Ignasi; Altafaj Xavier; Andreu Núria; Estivill Xavier; Dierssen Mara; Fillat Cristina
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: Alonso P; Gratacòs M; Menchón J M; Segalàs C; González J R; Labad J; Bayés M; Real E; de Cid R; Pertusa A; Escaramís G; Vallejo J; Estivill X
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: Canzonetta Claudia; Mulligan Claire; Deutsch Samuel; Ruf Sandra; O'Doherty Aideen; Lyle Robert; Borel Christelle; Lin-Marq Nathalie; Delom Frederic; Groet Jürgen; Schnappauf Felix; De Vita Serena; Averill Sharon; Priestley John V; Martin Joanne E; Shipley Janet; Denyer Gareth; Epstein Charles J; Fillat Cristina; Estivill Xavier; Tybulewicz Victor L J; Fisher Elizabeth M C; Antonarakis Stylianos E; Nizetic Dean
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: Bosch Nina; Escaramís Geòrgia; Mercader Josep M; Armengol Lluís; Estivill Xavier
Analysis of the multi-copy gene family FAM90A as a copy number variant in different ethnic backgrounds.
Gene 2008;420(2):113-7.
2008: Ballana Ester; Wang Jing; Venail Frédéric; Estivill Xavier; Puel Jean-Luc; Arbonès Maria L; Bosch Assumpció
Efficient and specific transduction of cochlear supporting cells by adeno-associated virus serotype 5.
Neuroscience letters 2008;442(2):134-9.
2008: de Cid R; Fonseca F; Gratacòs M; Gutierrez F; Martín-Santos R; Estivill X; Torrens M
BDNF variability in opioid addicts and response to methadone treatment: preliminary findings.
Genes, brain, and behavior 2008;7(5):515-22.
2008: Mercader Josep Maria; Saus Ester; Agüera Zaida; Bayés Mònica; Boni Claudette; Carreras Anna; Cellini Elena; de Cid Rafael; Dierssen Mara; Escaramís Geòrgia; Fernández-Aranda Fernando; Forcano Laura; Gallego Xavier; González Juan Ramón; Gorwood Philip; Hebebrand Johannes; Hinney Anke; Nacmias Benedetta; Puig Anna; Ribasés Marta; Ricca Valdo; Romo Lucia; Sorbi Sandro; Versini Audrey; Gratacòs Mònica; Estivill Xavier
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: Ribasés Marta; Hervás Amaia; Ramos-Quiroga Josep Antoni; Bosch Rosa; Bielsa Anna; Gastaminza Xavier; Fernández-Anguiano Mònica; Nogueira Mariana; Gómez-Barros Núria; Valero Sergi; Gratacòs Mònica; Estivill Xavier; Casas Miquel; Cormand Bru; Bayés Mònica
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: Estivill Xavier; Cox Nancy J; Chanock Stephen J; Kwok Pui-Yan; Scherer Stephen W; Brookes Anthony J
SNPs meet CNVs in genome-wide association studies: HGV2007 meeting report.
PLoS genetics 2008;4(4):e1000068.
2008: González Juan R; Carrasco Josep L; Dudbridge Frank; Armengol Lluís; Estivill Xavier; Moreno Victor
Maximizing association statistics over genetic models.
Genetic epidemiology 2008;32(3):246-54.
2008: Llorens Franc; Gil Vanesa; Iraola Susana; Carim-Todd Laura; Martí Eulàlia; Estivill Xavier; Soriano Eduardo; del Rio José Antonio; Sumoy Lauro
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: Alonso Pino; Gratacòs Mónica; Menchón José M; Saiz-Ruiz Jerónimo; Segalàs Cinto; Baca-García Enrique; Labad Javier; Fernández-Piqueras José; Real Eva; Vaquero Concepción; Pérez Mercedes; Dolengevich Helen; González Juan R; Bayés Mónica; de Cid Rafael; Vallejo Julio; Estivill Xavier
Extensive genotyping of the BDNF and NTRK2 genes define protective haplotypes against obsessive-compulsive disorder.
Biological psychiatry 2008;63(6):619-28.
2008: Ballana Ester; Govea Nancy; de Cid Rafael; Garcia Cecilia; Arribas Carles; Rosell Jordi; Estivill Xavier
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: Guipponi Michel; Toh Min-Yen; Tan Justin; Park Daeho; Hanson Kelly; Ballana Ester; Kwong David; Cannon Ping Z F; Wu Qingyu; Gout Alex; Delorenzi Mauro; Speed Terence P; Smith Richard J H; Dahl Henrik H; Petersen Michael; Teasdale Rohan D; Estivill Xavier; Park Woo Jin; Scott Hamish S
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: Ribasés Marta; Fernández-Aranda Fernando; Gratacòs Mònica; Mercader Josep M; Casasnovas Carolina; Núñez Araceli; Vallejo Julio; Estivill Xavier
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.
2008: Armengol L; Rabionet R; Estivill X
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: Pantano Lorena; Armengol Lluís; Villatoro Sergi; Estivill Xavier
ProSeeK: a web server for MLPA probe design.
BMC genomics 2008;9():573.
2008: Rabionet Raquel; Espinosa-Parrilla Yolanda; Estivill Xavier
Human genetics branches out in Barcelona.
Genome biology 2008;9(8):318.
2008: González Juan R; Carrasco Josep L; Armengol Lluís; Villatoro Sergi; Jover Lluís; Yasui Yutaka; Estivill Xavier
Probe-specific mixed-model approach to detect copy number differences using multiplex ligation-dependent probe amplification (MLPA).
BMC bioinformatics 2008;9():261.
2008: Brunet Anna; Armengol Lluís; Pelaez Trini; Guillamat Roser; Vallès Vicenç; Gabau Elisabeth; Estivill Xavier; Guitart Miriam
Failure to detect the 22q11.2 duplication syndrome rearrangement among patients with schizophrenia.
Behavioral and brain functions : BBF 2008;4():10.
2008: Solé Xavier; Hernández Pilar; de Heredia Miguel López; Armengol Lluís; Rodríguez-Santiago Benjamín; Gómez Laia; Maxwell Christopher A; Aguiló Fernando; Condom Enric; Abril Jesús; Pérez-Jurado Luis; Estivill Xavier; Nunes Virginia; Capellá Gabriel; Gruber Stephen B; Moreno Víctor; Pujana Miguel Angel
Genetic and genomic analysis modeling of germline c-MYC overexpression and cancer susceptibility.
BMC genomics 2008;9():12.
2007: Bosch Nina; Cáceres Mario; Cardone Maria Francesca; Carreras Anna; Ballana Ester; Rocchi Mariano; Armengol Lluís; Estivill Xavier
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: Mercader J M; Ribasés M; Gratacòs M; González J R; Bayés M; de Cid R; Badía A; Fernández-Aranda F; Estivill X
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: Sahún I; Gallego X; Gratacòs M; Murtra P; Trullás R; Maldonado R; Estivill X; Dierssen M
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: Estivill Xavier; Armengol Lluís
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: Faucz F R; Gimenez J; Ramos M D; Pereira-Ferrari L; Estivill X; Raskin S; Casals T; Culpi L
Cystic fibrosis in a southern Brazilian population: characteristics of 90% of the alleles.
Clinical genetics 2007;72(3):218-23.
2007: Beckmann Jacques S; Estivill Xavier; Antonarakis Stylianos E
Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability.
Nature reviews. Genetics 2007;8(8):639-46.
2007: Gratacòs M; Sahún I; Gallego X; Amador-Arjona A; Estivill X; Dierssen M
Candidate genes for panic disorder: insight from human and mouse genetic studies.
Genes, brain, and behavior 2007;6 Suppl 1():2-23.
2007: Rodriguez-Revenga L; Madrigal I; Alkhalidi L S; Armengol L; González E; Badenas C; Estivill X; Milà M
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: Porta Sílvia; Serra Selma A; Huch Meritxell; Valverde Miguel A; Llorens Franc; Estivill Xavier; Arbonés Maria L; Martí Eulàlia
RCAN1 (DSCR1) increases neuronal susceptibility to oxidative stress: a potential pathogenic process in neurodegeneration.
Human molecular genetics 2007;16(9):1039-50.
2007: Gratacòs Mònica; González Juan R; Mercader Josep M; de Cid Rafael; Urretavizcaya Mikel; Estivill Xavier
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: González Juan R; Armengol Lluís; Solé Xavier; Guinó Elisabet; Mercader Josep M; Estivill Xavier; Moreno Víctor
SNPassoc: an R package to perform whole genome association studies.
Bioinformatics (Oxford, England) 2007;23(5):644-5.
2007: Pujana Miguel Angel; Ruiz Anna; Badenas Cèlia; Puig-Butille Josep-Anton; Nadal Marga; Stark Mitchell; Gómez Laia; Valls Joan; Solé Xavier; Hernández Pilar; Cerrato Celia; Madrigal Irene; de Cid Rafael; Aguilar Helena; Capellá Gabriel; Cal Santiago; James Michael R; Walker Graeme J; Malvehy Josep; Milà Montserrat; Hayward Nicholas K; Estivill Xavier; Puig Susana
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: Mercader Josep M; Fernández-Aranda Fernando; Gratacòs Mònica; Ribasés Marta; Badía Anna; Villarejo Cynthia; Solano Raquel; González Juan R; Vallejo Julio; Estivill Xavier
Blood levels of brain-derived neurotrophic factor correlate with several psychopathological symptoms in anorexia nervosa patients.
Neuropsychobiology 2007;56(4):185-90.
2007: Ballana Ester; Mercader Josep Maria; Fischel-Ghodsian Nathan; Estivill Xavier
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: Madrigal I; Rodríguez-Revenga L; Armengol L; González E; Rodriguez B; Badenas C; Sánchez A; Martínez F; Guitart M; Fernández I; Arranz J A; Tejada Mi; Pérez-Jurado L A; Estivill X; Milà M
X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation.
BMC genomics 2007;8():443.
2007: Ballana Ester; González Juan Ramón; Bosch Nina; Estivill Xavier
Inter-population variability of DEFA3 gene absence: correlation with haplotype structure and population variability.
BMC genomics 2007;8():14.
2006: Khaja Razi; Zhang Junjun; MacDonald Jeffrey R; He Yongshu; Joseph-George Ann M; Wei John; Rafiq Muhammad A; Qian Cheng; Shago Mary; Pantano Lorena; Aburatani Hiroyuki; Jones Keith; Redon Richard; Hurles Matthew; Armengol Lluis; Estivill Xavier; Mural Richard J; Lee Charles; Scherer Stephen W; Feuk Lars
Genome assembly comparison identifies structural variants in the human genome.
Nature genetics 2006;38(12):1413-8.
2006: Dierssen Mara; Gratacòs Mònica; Sahún Ignasi; Martín Miguel; Gallego Xavier; Amador-Arjona Alejandro; Martínez de Lagrán María; Murtra Patricia; Martí Eulalia; Pujana Miguel A; Ferrer Isidre; Dalfó Esther; Martínez-Cué Carmen; Flórez Jesús; Torres-Peraza Jesús F; Alberch Jordi; Maldonado Rafael; Fillat Cristina; Estivill Xavier
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: González Juan R; Wang Wenyi; Ballana Ester; Estivill Xavier
A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness.
Human mutation 2006;27(11):1135-42.
2006: de la Luna Susana; Estivill Xavier
Cooperation to amplify gene-dosage-imbalance effects.
Trends in molecular medicine 2006;12(10):451-4.
2006: Goidts Violaine; Cooper David N; Armengol Lluis; Schempp Werner; Conroy Jeffrey; Estivill Xavier; Nowak Norma; Hameister Horst; Kehrer-Sawatzki Hildegard
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: Guan Min-Xin; Yan Qingfeng; Li Xiaoming; Bykhovskaya Yelena; Gallo-Teran Jaime; Hajek Petr; Umeda Noriko; Zhao Hui; Garrido Gema; Mengesha Emebet; Suzuki Tsutomu; del Castillo Ignacio; Peters Jennifer Lynne; Li Ronghua; Qian Yaping; Wang Xinjian; Ballana Ester; Shohat Mordechai; Lu Jianxin; Estivill Xavier; Watanabe Kimitsuna; Fischel-Ghodsian Nathan
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: Ballana Ester; Morales Estela; Estivill Xavier
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: Bravo Olga; Ballana Ester; Estivill Xavier
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: Yan Qingfeng; Bykhovskaya Yelena; Li Ronghua; Mengesha Emebet; Shohat Mordechai; Estivill Xavier; Fischel-Ghodsian Nathan; Guan Min-Xin
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: Ballana Ester; Morales Estela; Rabionet Raquel; Montserrat Bàrbara; Ventayol Marina; Bravo Olga; Gasparini Paolo; Estivill Xavier
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: Goidts Violaine; Armengol Lluis; Schempp Werner; Conroy Jeffrey; Nowak Norma; Müller Stefan; Cooper David N; Estivill Xavier; Enard Wolfgang; Szamalek Justyna M; Hameister Horst; Kehrer-Sawatzki Hildegard
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: Donaudy F; Zheng L; Ficarella R; Ballana E; Carella M; Melchionda S; Estivill X; Bartles J R; Gasparini P
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: Armengol Lluís; Marquès-Bonet Tomàs; Cheung Joseph; Khaja Razi; González Juan R; Scherer Stephen W; Navarro Arcadi; Estivill Xavier
Murine segmental duplications are hot spots for chromosome and gene evolution.
Genomics 2005;86(6):692-700.
2005: Ribases M; Gratacos M; Badia A; Jimenez L; Solano R; Vallejo J; Fernandez-Aranda F; Estivill X
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: Wattenhofer Marie; Reymond Alexandre; Falciola Véronique; Charollais Anne; Caille Dorothée; Borel Christelle; Lyle Robert; Estivill Xavier; Petersen Michael B; Meda Paolo; Antonarakis Stylianos E
Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro.
Human mutation 2005;25(6):543-9.
2005: Ribasés Marta; Gratacòs Mònica; Fernández-Aranda Fernando; Bellodi Laura; Boni Claudette; Anderluh Marija; Cristina Cavallini Maria; Cellini Elena; Di Bella Daniela; Erzegovesi Stefano; Foulon Christine; Gabrovsek Mojca; Gorwood Philip; Hebebrand Johannes; Hinney Anke; Holliday Jo; Hu Xun; Karwautz Andreas; Kipman Amélie; Komel Radovan; Nacmias Benedetta; Remschmidt Helmut; Ricca Valdo; Sorbi Sandro; Tomori Martina; Wagner Gudrun; Treasure Janet; Collier David A; Estivill Xavier
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: Ogorelkova Miroslava; Estivill Xavier
Human genetics moves from clinic to bench--and back.
Genome biology 2005;6(9):343.
2004: Bykhovskaya Yelena; Mengesha Emebet; Wang Dai; Yang Huiying; Estivill Xavier; Shohat Mordechai; Fischel-Ghodsian Nathan
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: Fotaki V; Martínez De Lagrán M; Estivill X; Arbonés M; Dierssen M
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: Casals T; De-Gracia J; Gallego M; Dorca J; Rodríguez-Sanchón B; Ramos M D; Giménez J; Cisteró-Bahima A; Olveira C; Estivill X
Bronchiectasis in adult patients: an expression of heterozygosity for CFTR gene mutations?
Clinical genetics 2004;65(6):490-5.
2004: Ribasés Marta; Gratacòs Mònica; Fernández-Aranda Fernando; Bellodi Laura; Boni Claudette; Anderluh Marija; Cavallini Maria Cristina; Cellini Elena; Di Bella Daniela; Erzegovesi Stefano; Foulon Christine; Gabrovsek Mojca; Gorwood Philip; Hebebrand Johannes; Hinney Anke; Holliday Jo; Hu Xun; Karwautz Andreas; Kipman Amélie; Komel Radovan; Nacmias Benedetta; Remschmidt Helmut; Ricca Valdo; Sorbi Sandro; Wagner Gudrun; Treasure Janet; Collier David A; Estivill Xavier
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: Shaw Christine J; Stankiewicz Pawel; Bien-Willner Gabriel; Bello Scott C; Shaw Chad A; Carrera Marta; Perez Jurado Luis; Estivill Xavier; Lupski James R
Small marker chromosomes in two patients with segmental aneusomy for proximal 17p.
Human genetics 2004;115(1):1-7.
2004: Bykhovskaya Yelena; Mengesha Emebet; Wang Dai; Yang Huiying; Estivill Xavier; Shohat Mordechai; Fischel-Ghodsian Nathan
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: Casals Teresa; Aparisi Luís; Martínez-Costa Cecilia; Giménez Javier; Ramos Maria D; Mora Josefina; Diaz Juan; Boadas Jaume; Estivill Xavier; Farré Antoni
Different CFTR mutational spectrum in alcoholic and idiopathic chronic pancreatitis?
Pancreas 2004;28(4):374-9.
2004: Donaudy Francesca; Snoeckx Rik; Pfister Markus; Zenner Hans-Peter; Blin Nikolaus; Di Stazio Mariateresa; Ferrara Antonella; Lanzara Carmen; Ficarella Romina; Declau Frank; Pusch Carsten M; Nürnberg Peter; Melchionda Salvatore; Zelante Leopoldo; Ballana Ester; Estivill Xavier; Van Camp Guy; Gasparini Paolo; Savoia Anna
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: Martínez de Lagrán M; Altafaj X; Gallego X; Martí E; Estivill X; Sahún I; Fillat C; Dierssen M
Motor phenotypic alterations in TgDyrk1a transgenic mice implicate DYRK1A in Down syndrome motor dysfunction.
Neurobiology of disease 2004;15(1):132-42.
2004: Liu Xiangdong; Li Xiaobin; Li Martin; Acimovic Yugo J; Li Zhenzhong; Scherer Stephen W; Estivill Xavier; Tsui Lap-Chee
Characterization of the segmental duplication LCR7-20 in the human genome.
Genomics 2004;83(2):262-9.
2004: Groman Joshua D; Hefferon Timothy W; Casals Teresa; Bassas Lluís; Estivill Xavier; Des Georges Marie; Guittard Caroline; Koudova Monika; Fallin M Daniele; Nemeth Krisztina; Fekete Gyorgy; Kadasi Ludovit; Friedman Ken; Schwarz Martin; Bombieri Cristina; Pignatti Pier Franco; Kanavakis Emmanuel; Tzetis Maria; Schwartz Marianne; Novelli Giuseppe; D'Apice Maria Rosaria; Sobczynska-Tomaszewska Agnieszka; Bal Jerzy; Stuhrmann Manfred; Macek Milan; Claustres Mireille; Cutting Garry R
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: Gabrovsek M; Brecelj-Anderluh M; Bellodi L; Cellini E; Di Bella D; Estivill X; Fernandez-Aranda F; Freeman B; Geller F; Gratacos M; Haigh R; Hebebrand J; Hinney A; Holliday J; Hu X; Karwautz A; Nacmias B; Ribases M; Remschmidt H; Komel R; Sorbi S; Tomori M; Treasure J; Wagner G; Zhao J; Collier D A
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: Carim-Todd Laura; Escarceller Mònica; Estivill Xavier; Sumoy Lauro
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: Del Castillo Ignacio; Moreno-Pelayo Miguel A; Del Castillo Francisco J; Brownstein Zippora; Marlin Sandrine; Adina Quint; Cockburn David J; Pandya Arti; Siemering Kirby R; Chamberlin G Parker; Ballana Ester; Wuyts Wim; Maciel-Guerra Andréa Trevas; Alvarez Araceli; Villamar Manuela; Shohat Mordechai; Abeliovich Dvorah; Dahl Hans-Henrik M; Estivill Xavier; Gasparini Paolo; Hutchin Tim; Nance Walter E; Sartorato Edi L; Smith Richard J H; Van Camp Guy; Avraham Karen B; Petit Christine; Moreno Felipe
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: Andreu Nuria; Pujol-Moix Núria; Martinez-Lostao Luis; Oset Marta; Muñiz-Diaz Eduardo; Estivill Xavier; Volpini Victor; Fillat Cristina
Wiskott-Aldrich syndrome in a female with skewed X-chromosome inactivation.
Blood cells, molecules & diseases 2003;31(3):332-7.
2003: Armengol Lluis; Pujana Miguel Angel; Cheung Joseph; Scherer Stephen W; Estivill Xavier
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: Genescà Lali; Aubareda Anna; Fuentes Juan J; Estivill Xavier; De La Luna Susana; Pérez-Riba Mercè
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: Ribasés M; Gratacòs M; Armengol L; de Cid R; Badía A; Jiménez L; Solano R; Vallejo J; Fernández F; Estivill X
Met66 in the brain-derived neurotrophic factor (BDNF) precursor is associated with anorexia nervosa restrictive type.
Molecular psychiatry 2003;8(8):745-51.
2003: Alvarez Monica; Estivill Xavier; de la Luna Susana
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: de Semir David; Nadal Marga; González Juan R; Larriba Sara; Avinyó Anna; Nunes Virginia; Casals Teresa; Estivill Xavier; Aran Josep M
Suitability of oligonucleotide-mediated cystic fibrosis gene repair in airway epithelial cells.
The journal of gene medicine 2003;5(7):625-39.
2003: Dierssen M; Benavides-Piccione R; Martínez-Cué C; Estivill X; Flórez J; Elston G N; DeFelipe J
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: Hilton John F; Christensen Karen E; Watkins David; Raby Benjamin A; Renaud Yannick; de la Luna Susanna; Estivill Xavier; MacKenzie Robert E; Hudson Thomas J; Rosenblatt David S
The molecular basis of glutamate formiminotransferase deficiency.
Human mutation 2003;22(1):67-73.
2003: Ars E; Kruyer H; Morell M; Pros E; Serra E; Ravella A; Estivill X; Lázaro C
Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients.
Journal of medical genetics 2003;40(6):e82.
2003: Gimelli Giorgio; Pujana Miguel Angel; Patricelli Maria Grazia; Russo Silvia; Giardino Daniela; Larizza Lidia; Cheung Joseph; Armengol Lluís; Schinzel Albert; Estivill Xavier; Zuffardi Orsetta
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: Martí Eulàlia; Altafaj Xavier; Dierssen Mara; de la Luna Susana; Fotaki Vassiliki; Alvarez Mónica; Pérez-Riba Mercè; Ferrer Isidro; Estivill Xavier
Dyrk1A expression pattern supports specific roles of this kinase in the adult central nervous system.
Brain research 2003;964(2):250-63.
2003: Domschke K; Kuhlenbäumer G; Schirmacher A; Lorenzi C; Armengol L; DiBella D; Gratacos M; Garritsen H S; Nöthen M M; Franke P; Sand P; Fritze J; Perez G; Maier W; Sibrowski W; Estivill X; Bellodi L; Ringelstein E B; Arolt V; Martin-Santos R; Catalano M; Stögbauer F; Deckert J
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: Andreu Nuria; Carreras Carmen; Prieto Félix; Estivill Xavier; Volpini Victor; Fillat Cristina
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: Cheung Joseph; Estivill Xavier; Khaja Razi; MacDonald Jeffrey R; Lau Ken; Tsui Lap-Chee; Scherer Stephen W
Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence.
Genome biology 2003;4(4):R25.
2002: López-Bigas Núria; Arbonés Maria L; Estivill Xavier; Simonneau Lionel
Expression profiles of the connexin genes, Gjb1 and Gjb3, in the developing mouse cochlea.
Mechanisms of development 2002;119 Suppl 1():S111-5.
2002: Padilla Olga; Pujana Miguel Angel; López-de la Iglesia Agustí; Gimferrer Idoia; Arman Mònica; Vilà Josep Maria; Places Lourdes; Vives Jordi; Estivill Xavier; Lozano Francisco
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: López-Bigas Núria; Arbonés Maria L; Estivill Xavier; Simonneau Lionel
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: Fotaki Vassiliki; Dierssen Mara; Alcántara Soledad; Martínez Salvador; Martí Eulàlia; Casas Caty; Visa Joana; Soriano Eduardo; Estivill Xavier; Arbonés Maria L
Dyrk1A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in mice.
Molecular and cellular biology 2002;22(18):6636-47.
2002: Thönnissen Eva; Rabionet Raquel; Arbonès Maria Lourdes; Estivill Xavier; Willecke Klaus; Ott Thomas
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: Estivill Xavier; Cheung Joseph; Pujana Miguel Angel; Nakabayashi Kazuhiko; Scherer Stephen W; Tsui Lap-Chee
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: Dierssen M; Fotaki V; Martínez de Lagrán M; Gratacós M; Arbonés M; Fillat C; Estivill X
Neurobehavioral development of two mouse lines commonly used in transgenic studies.
Pharmacology, biochemistry, and behavior 2002;73(1):19-25.
2002: López-Bigas N; Melchionda S; de Cid R; Grifa A; Zelante L; Govea N; Arbonés M L; Gasparini P; Estivill X
Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.
Human mutation 2002;20(1):77-8.
2002: de Semir David; Avinyó Anna; Larriba Sara; Nunes Virginia; Casals Teresa; Estivill Xavier; Aran Josep M
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: de Semir David; Petriz Jordi; Avinyó Anna; Larriba Sara; Nunes Virginia; Casals Teresa; Estivill Xavier; Aran Josep M
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: Rabionet Raquel; López-Bigas Núria; Arbonès Maria Lourdes; Estivill Xavier
Connexin mutations in hearing loss, dermatological and neurological disorders.
Trends in molecular medicine 2002;8(5):205-12.
2002: López-Bigas Núria; Melchionda Salvatore; Gasparini Paolo; Borragán Alfonso; Arbonés Maria Lourdes; Estivill Xavier
A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families.
Human mutation 2002;19(4):458.
2002: Carrió Meritxell; Visa Joana; Cascante Anna; Estivill Xavier; Fillat Cristina
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: Asumalahti Kati; Veal Colin; Laitinen Tarja; Suomela Sari; Allen Michael; Elomaa Outi; Moser Michael; de Cid Rafael; Ripatti Samuli; Vorechovsky Igor; Marcusson Jan A; Nakagawa Hidemi; Lazaro Conxi; Estivill Xavier; Capon Francesca; Novelli Giuseppe; Saarialho-Kere Ulpu; Barker Jonathan; Trembath Richard; Kere Juha;
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: Wattenhofer Marie; Di Iorio Mario Vincenzo; Rabionet Raquel; Dougherty Loretta; Pampanos Andreas; Schwede Torsten; Montserrat-Sentis Barbara; Arbones Maria Lourdes; Iliades Theofilos; Pasquadibisceglie Annamaria; D'Amelio Marcello; Alwan Sura; Rossier Colette; Dahl Hans-Henrik M; Petersen Michael B; Estivill Xavier; Gasparini Paolo; Scott Hamish S; Antonarakis Stylianos E
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: Pujana Miguel Angel; Nadal Marga; Guitart Miriam; Armengol Lluís; Gratacòs Mònica; Estivill Xavier
Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons.
European journal of human genetics : EJHG 2002;10(1):26-35.
2002: Armengol L; Gratacòs M; Pujana M A; Ribasés M; Martín-Santos R; Estivill X
5' UTR-region SNP in the NTRK3 gene is associated with panic disorder.
Molecular psychiatry 2002;7(9):928-30.
2002: Gorwood P; Adès J; Bellodi L; Cellini E; Collier D A; Di Bella D; Di Bernardo M; Estivill X; Fernandez-Aranda F; Gratacos M; Hebebrand J; Hinney A; Hu X; Karwautz A; Kipman A; Mouren-Siméoni M C; Nacmias B; Ribasés M; Remschmidt H; Ricca V; Rotella C M; Sorbi S; Treasure J;
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: López-Bigas N; Melchionda S; de Cid R; Grifa A; Zelante L; Govea N; Arbonés M L; Gasparini P; Estivill X
Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.
Human mutation 2001;18(6):548.
2001: Larriba S; Sumoy L; Ramos M D; Giménez J; Estivill X; Casals T; Nunes V
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: Andreu N; Escarceller M; Feather S; Devriendt K; Wolf A S; Estivill X; Sumoy L
PALML, a novel paralemmin-related gene mapping on human chromosome 1p21.
Gene 2001;278(1-2):33-40.
2001: Pucharcos C; Casas C; Nadal M; Estivill X; de la Luna S
The human intersectin genes and their spliced variants are differentially expressed.
Biochimica et biophysica acta 2001;1521(1-3):1-11.
2001: Carrió M; Mazo A; López-Iglesias C; Estivill X; Fillat C
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: Altafaj X; Dierssen M; Baamonde C; Martí E; Visa J; Guimerà J; Oset M; González J R; Flórez J; Fillat C; Estivill X
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: Melchionda S; Ahituv N; Bisceglia L; Sobe T; Glaser F; Rabionet R; Arbones M L; Notarangelo A; Di Iorio E; Carella M; Zelante L; Estivill X; Avraham K B; Gasparini P
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: Dierssen M; Fillat C; Crnic L; Arbonés M; Flórez J; Estivill X
Murine models for Down syndrome.
Physiology & behavior 2001;73(5):859-71.
2001: Gratacòs M; Nadal M; Martín-Santos R; Pujana M A; Gago J; Peral B; Armengol L; Ponsa I; Miró R; Bulbena A; Estivill X
A polymorphic genomic duplication on human chromosome 15 is a susceptibility factor for panic and phobic disorders.
Cell 2001;106(3):367-79.
2001: Larriba S; Bassas L; Egozcue S; Giménez J; Ramos M D; Briceño O; Estivill X; Casals T
Adenosine triphosphate-binding cassette superfamily transporter gene expression in severe male infertility.
Biology of reproduction 2001;65(2):394-400.
2001: Carim-Todd L; Sumoy L; Andreu N; Estivill X; Escarceller M
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: Serra E; Rosenbaum T; Nadal M; Winner U; Ars E; Estivill X; Lázaro C
Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas.
Nature genetics 2001;28(3):294-6.
2001: Serra E; Ars E; Ravella A; Sánchez A; Puig S; Rosenbaum T; Estivill X; Lázaro C
Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutations.
Human genetics 2001;108(5):416-29.
2001: Bykhovskaya Y; Yang H; Taylor K; Hang T; Tun R Y; Estivill X; Casano R A; Majamaa K; Shohat M; Fischel-Ghodsian N
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: López-Bigas N; Olivé M; Rabionet R; Ben-David O; Martínez-Matos J A; Bravo O; Banchs I; Volpini V; Gasparini P; Avraham K B; Ferrer I; Arbonés M L; Estivill X
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: Fillat C; Español T; Oset M; Ferrando M; Estivill X; Volpini V
Identification of WASP mutations in 14 Spanish families with Wiskott-Aldrich syndrome.
American journal of medical genetics 2001;100(2):116-21.
2001: Carim-Todd L; Escarceller M; Estivill X; Sumoy L
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: Casas C; Martínez S; Pritchard M A; Fuentes J J; Nadal M; Guimerà J; Arbonés M; Flórez J; Soriano E; Estivill X; Alcántara S
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: Badenas C; Castellví-Bel S; Volpini V; Jiménez D; Sánchez A; Estivill X; Milà M
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: Carim-Todd L; Escarceller M; Estivill X; Sumoy L
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: Carim-Todd L; Sumoy L; Andreu N; Estivill X; Escarceller M
Identification and characterization of BTBD1, a novel BTB domain containing gene on human chromosome 15q24.
Gene 2001;262(1-2):275-81.
2001: Sumoy L; Pluvinet R; Andreu N; Estivill X; Escarceller M
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: López-Bigas N; Rabionet R; Arbonés M L; Estivill X
R32W variant in Connexin 31: mutation or polymorphism for deafness and skin disease?
European journal of human genetics : EJHG 2001;9(1):70.
2001: de Cid R; Chomel J C; Lazaro C; Sunyer J; Baudis M; Casals T; Le Moual N; Kitzis A; Feingold J; Anto J; Estivill X; Kauffmann F;
CFTR and asthma in the French EGEA study.
European journal of human genetics : EJHG 2001;9(1):67-9.
2001: Pujana M A; Nadal M; Gratacòs M; Peral B; Csiszar K; González-Sarmiento R; Sumoy L; Estivill X
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.
2001: Dierssen M; Martí E; Pucharcós C; Fotaki V; Altafaj X; Casas K; Solans A; Arbonés M L; Fillat C; Estivill X
Functional genomics of Down syndrome: a multidisciplinary approach.
Journal of neural transmission. Supplementum 2001;(61):131-48.
2001: Carim-Todd L; Sumoy L; Andreu N; Estivill X; Escarceller M
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: Mallolas J; Vilaseca M A; Pavia C; Lambruschini N; Cambra F J; Campistol J; Gómez D; Carrió A; Estivill X; Milà M
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.
2000: Chrast R; Scott H S; Papasavvas M P; Rossier C; Antonarakis E S; Barras C; Davisson M T; Schmidt C; Estivill X; Dierssen M; Pritchard M; Antonarakis S E
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: Serra E; Rosenbaum T; Winner U; Aledo R; Ars E; Estivill X; Lenard H G; Lázaro C
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: Pucharcos C; Estivill X; de la Luna S
Intersectin 2, a new multimodular protein involved in clathrin-mediated endocytosis.
FEBS letters 2000;478(1-2):43-51.
2000: Casals T; Bassas L; Egozcue S; Ramos M D; Giménez J; Segura A; Garcia F; Carrera M; Larriba S; Sarquella J; Estivill X
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: Fuentes J J; Genescà L; Kingsbury T J; Cunningham K W; Pérez-Riba M; Estivill X; de la Luna S
DSCR1, overexpressed in Down syndrome, is an inhibitor of calcineurin-mediated signaling pathways.
Human molecular genetics 2000;9(11):1681-90.
2000: Puig S; Castro J; Ventura P J; Ruiz A; Ascaso C; Malvehy J; Estivill X; Mascaro J M; Lecha M; Castel T
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: Bykhovskaya Y; Estivill X; Taylor K; Hang T; Hamon M; Casano R A; Yang H; Rotter J I; Shohat M; Fischel-Ghodsian N
Candidate locus for a nuclear modifier gene for maternally inherited deafness.
American journal of human genetics 2000;66(6):1905-10.
2000: Nadal M; Valiente A; Domènech A; Pritchard M; Estivill X; Ramos-Arroyo M A
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: Fillat C; Español T; Oset M; Cavieres M; dal Borgo P; Estivill X; Volpini V
Two novel mutations in the WASP gene in Wiskott-Aldrich patients of Chile origin: W64R and A124E.
Human mutation 2000;15(5):487.
2000: López-Bigas N; Rabionet R; Martínez E; Banchs I; Volpini V; Vance J M; Arbonés M L; Estivill X
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: Aznarez I; Bal J; Casals T; Estivill X; Moral N; Sands D; Nunes V; Sobczynska-Tomaszewska A; Tsui L C; Zielenski J
[Analysis of mutations in the CFTR gene in patients diagnosed with cystic fibrosis in Poland]
Medycyna wieku rozwojowego 2000;4(2):149-59.
2000: Milà M; Castellví-Bel S; Sánchez A; Barceló A; Badenas C; Mallolas J; Estivill X
Rare variants in the promoter of the fragile X syndrome gene (FMR1).
Molecular and cellular probes 2000;14(2):115-9.
2000: López-Bigas N; Rabionet R; Martinez E; Bravo O; Girons J; Borragan A; Pellicer M; Arbonés M L; Estivill X
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: Laitinen T; Ollikainen V; Lázaro C; Kauppi P; de Cid R; Antó J M; Estivill X; Lokki H; Mannila H; Laitinen L A; Kere J
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: Ars E; Serra E; de la Luna S; Estivill X; Lázaro C
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: Bombieri C; Giorgi S; Carles S; de Cid R; Belpinati F; Tandoi C; Pallares-Ruiz N; Lazaro C; Ciminelli B M; Romey M C; Casals T; Pompei F; Gandini G; Claustres M; Estivill X; Pignatti P F; Modiano G
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: Rabionet R; Zelante L; López-Bigas N; D'Agruma L; Melchionda S; Restagno G; Arbonés M L; Gasparini P; Estivill X
Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.
Human genetics 2000;106(1):40-4.
2000: Torra R; Badenas C; Pérez-Oller L; San Millán J L; Tellería D; Estivill X; Darnell A
[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: Gasparini P; Rabionet R; Barbujani G; Melçhionda S; Petersen M; Brøndum-Nielsen K; Metspalu A; Oitmaa E; Pisano M; Fortina P; Zelante L; Estivill X
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: Espinosa-Parrilla Y; Navarro G; Morell M; Abella E; Estivill X; Sala N
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.
2000: Ars E; Serra E; García J; Kruyer H; Gaona A; Lázaro C; Estivill X
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: Soriano J B; de Cid R; Estivill X; Antó J M; Sunyer J; Otero D; Roca J; Rodríguez-Roisín R; Morell F; Rodrigo M J; Ercilla G; Beaty T H; Lázaro C
Association study of proposed candidate genes/regions in a population of Spanish asthmatics.
European journal of epidemiology 2000;16(8):745-50.
2000: Carim-Todd L; Escarceller M; Estivill X; Sumoy L
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: Escarceller M; Pluvinet R; Sumoy L; Estivill X
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: Solans A; Estivill X; de La Luna S
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: Carim L; Sumoy L; Andreu N; Estivill X; Escarceller M
Cloning, mapping and expression analysis of VPS33B, the human orthologue of rat Vps33b.
Cytogenetics and cell genetics 2000;89(1-2):92-5.
2000: Carim L; Sumoy L; Andreu N; Estivill X; Escarceller M
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: Espinosa-Parrilla Y; Morell M; Borrell M; Souto J C; Fontcuberta J; Estivill X; Sala N
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: Sumoy L; Carim L; Escarceller M; Nadal M; Gratacòs M; Pujana M A; Estivill X; Peral B
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: Solans A; Estivill X; de la Luna S
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.
1999: Mallolas J; Vilaseca M A; Campistol J; Lambruschini N; Cambra F J; Estivill X; Milà M
Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation.
Human genetics 1999;105(5):468-73.
1999: Torroni A; Cruciani F; Rengo C; Sellitto D; López-Bigas N; Rabionet R; Govea N; López De Munain A; Sarduy M; Romero L; Villamar M; del Castillo I; Moreno F; Estivill X; Scozzari R
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: Ruiz A; Nadal M; Puig S; Estivill X
Cloning of the human phospholipase A2 activating protein (hPLAP) gene on the chromosome 9p21 melanoma deleted region.
Gene 1999;239(1):155-61.
1999: Pucharcós C; Fuentes J J; Casas C; de la Luna S; Alcántara S; Arbonés M L; Soriano E; Estivill X; Pritchard M
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: Grifa A; Wagner C A; D'Ambrosio L; Melchionda S; Bernardi F; Lopez-Bigas N; Rabionet R; Arbones M; Monica M D; Estivill X; Zelante L; Lang F; Gasparini P
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus.
Nature genetics 1999;23(1):16-8.
1999: Ars E; Kruyer H; Gaona A; Serra E; Lázaro C; Estivill X
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: Torra R; Badenas C; San Millán J L; Pérez-Oller L; Estivill X; Darnell A
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: Ruiz A; Puig S; Malvehy J; Lázaro C; Lynch M; Gimenez-Arnau A M; Puig L; Sánchez-Conejo J; Estivill X; Castel T
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: Pujana M A; Corral J; Gratacòs M; Combarros O; Berciano J; Genís D; Banchs I; Estivill X; Volpini V
Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases. The Ataxia Study Group.
Human genetics 1999;104(6):516-22.
1999: Milà M; Carrió A; Sánchez A; Gómez D; Jiménez D; Estivill X; Ballesta F
[Clinical characterization, molecular and FISH studies in 80 patients with clinical suspicion of Williams-Beuren syndrome]
Medicina clínica 1999;113(2):46-9.
1999: Zielenski J; Corey M; Rozmahel R; Markiewicz D; Aznarez I; Casals T; Larriba S; Mercier B; Cutting G R; Krebsova A; Macek M; Langfelder-Schwind E; Marshall B C; DeCelie-Germana J; Claustres M; Palacio A; Bal J; Nowakowska A; Ferec C; Estivill X; Durie P; Tsui L C
Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13.
Nature genetics 1999;22(2):128-9.
1999: Antoniadi T; Rabionet R; Kroupis C; Aperis G A; Economides J; Petmezakis J; Economou-Petersen E; Estivill X; Petersen M B
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: Castellví-Bel S; Sánchez A; Badenas C; Mallolas J; Barceló A; Jiménez D; Villa M; Estivill X; Milà M
Single-strand conformation polymorphism analysis in the FMR1 gene.
American journal of medical genetics 1999;84(3):262-5.
1999: Guimera J; Casas C; Estivill X; Pritchard M
Human minibrain homologue (MNBH/DYRK1): characterization, alternative splicing, differential tissue expression, and overexpression in Down syndrome.
Genomics 1999;57(3):407-18.
1999: Rabionet R; Estivill X
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: Martorell L; Pujana M A; Valero J; Joven J; Volpini V; Labad A; Estivill X; Vilella E
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: Fuentes J J; Dierssen M; Pucharcós C; Fillat C; Casas C; Estivill X; Pritchard M
Application of Alu-splice PCR on chromosome 21: DSCR1 and Intersectin.
Journal of neural transmission. Supplementum 1999;57():337-52.
1999: Carim L; Sumoy L; Nadal M; Estivill X; Escarceller M
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: López-Bigas N; Rabionet R; de Cid R; Govea N; Gasparini P; Zelante L; Arbonés M L; Estivill X
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: Lázaro C; de Cid R; Sunyer J; Soriano J; Giménez J; Alvarez M; Casals T; Antó J M; Estivill X
Missense mutations in the cystic fibrosis gene in adult patients with asthma.
Human mutation 1999;14(6):510-9.
1999: Espinosa-Parrilla Y; Morell M; Souto J C; Tirado I; Fontcuberta J; Estivill X; Sala N
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: Larriba S; Bassas L; Gimenez J; Ramos M D; Segura A; Nunes V; Estivill X; Casals T
Testicular CFTR splice variants in patients with congenital absence of the vas deferens.
Human molecular genetics 1998;7(11):1739-43.
1998: Llevadot R; Marqués G; Pritchard M; Estivill X; Ferrús A; Scambler P
Cloning, chromosome mapping and expression analysis of the HIRA gene from Drosophila melanogaster.
Biochemical and biophysical research communications 1998;249(2):486-91.
1998: Carratalá F; Galán F; Moya M; Estivill X; Pritchard M A; Llevadot R; Nadal M; Gratacòs M
A patient with autistic disorder and a 20/22 chromosomal translocation.
Developmental medicine and child neurology 1998;40(7):492-5.
1998: Torra R; Badenas C; Darnell A; Camacho J A; Aspinwall R; Harris P C; Estivill X
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: Ruiz A; Puig S; Lynch M; Castel T; Estivill X
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: Torra R; Badenas C; Darnell A; Nicolau C; Volpini V; Revert L; Estivill X
[Clinical, genetic and molecular studies on autosomal dominant polycystic kidney disease]
Medicina clínica 1998;110(13):481-7.
1998: Ars E; Kruyer H; Gaona A; Casquero P; Rosell J; Volpini V; Serra E; Lázaro C; Estivill X
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: Pujana M A; Volpini V; Estivill X
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: Llevadot R; Estivill X; Scambler P; Pritchard M
Isolation and genomic characterization of the TUPLE1/HIRA gene of the pufferfish Fugu rubripes.
Gene 1998;208(2):279-83.
1998: Pujana M A; Volpini V; Gratacós M; Corral J; Banchs I; Sánchez A; Genís D; Cervera C; Estivill X
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: Estivill X; Fortina P; Surrey S; Rabionet R; Melchionda S; D'Agruma L; Mansfield E; Rappaport E; Govea N; Milà M; Zelante L; Gasparini P
Connexin-26 mutations in sporadic and inherited sensorineural deafness.
Lancet 1998;351(9100):394-8.
1998: Estivill X; Govea N; Barceló E; Badenas C; Romero E; Moral L; Scozzri R; D'Urbano L; Zeviani M; Torroni A
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: Mallolas J; Campistol J; Lambruschini N; Vilaseca M A; Cambra F J; Estivill X; Milà M
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: Torra R; Badenas C; Peral B; Darnell A; Serra E; Gamble V; Turco A E; Harris P C; Estivill X
Recurrence of the PKD1 nonsense mutation Q4041X in Spanish, Italian, and British families.
Human mutation 1998;Suppl 1():S117-20.
1998: Casals T; Ramos M D; Giménez J; Nadal M; Nunes V; Estivill X
Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis.
Human mutation 1998;Suppl 1():S99-102.
1997: Casals T; Ramos M D; Giménez J; Larriba S; Nunes V; Estivill X
High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes.
Human genetics 1997;101(3):365-70.
1997: Puig S; Ruiz A; Castel T; Volpini V; Malvehy J; Cardellach F; Lynch M; Mascaro J M; Estivill X
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: Fuentes J J; Pucharcós C; Pritchard M; Estivill X
Alu-splice PCR: a simple method to isolate exon-containing fragments from cloned human genomic DNA.
Human genetics 1997;101(3):346-50.
1997: Pujana M A; Gratacós M; Corral J; Banchs I; Sánchez A; Genís D; Cervera C; Volpini V; Estivill X
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: Soriano J B; Ercilla G; Sunyer J; Real F X; Lázaro C; Rodrigo M J; Estivill X; Roca J; Rodríguez-Roisín R; Morell F; Antó J M
HLA class II genes in soybean epidemic asthma patients.
American journal of respiratory and critical care medicine 1997;156(5):1394-8.
1997: Milà M; Sànchez A; Badenas C; Brun C; Jiménez D; Villa M P; Castellví-Bel S; Estivill X
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: Guimera J; Pucharcós C; Domènech A; Casas C; Solans A; Gallardo T; Ashley J; Lovett M; Estivill X; Pritchard M
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: Serra E; Puig S; Otero D; Gaona A; Kruyer H; Ars E; Estivill X; Lázaro C
Confirmation of a double-hit model for the NF1 gene in benign neurofibromas.
American journal of human genetics 1997;61(3):512-9.
1997: Fuentes J J; Pritchard M A; Estivill X
Genomic organization, alternative splicing, and expression patterns of the DSCR1 (Down syndrome candidate region 1) gene.
Genomics 1997;44(3):358-61.
1997: Zelante L; Gasparini P; Estivill X; Melchionda S; D'Agruma L; Govea N; Milá M; Monica M D; Lutfi J; Shohat M; Mansfield E; Delgrosso K; Rappaport E; Surrey S; Fortina P
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: Torra R; Badenas C; Darnell A; Brú C; Escorsell A; Estivill X
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: Pujana M A; Martorell L; Volpini V; Valero J; Labad A; Vilella E; Estivill X
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: Sánchez A; Milà M; Castellví-Bel S; Calopa M; Genís D; Jiménez D; Estivill X
[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: Sánchez A; Milà M; Castellví-Bel S; Rosich M; Jiménez D; Badenas C; Estivill X
Maternal transmission in sporadic Huntington's disease.
Journal of neurology, neurosurgery, and psychiatry 1997;62(5):535-7.
1997: Espinosa-Parrilla Y; Morell M; Souto J C; Borrell M; Heine-Suñer D; Tirado I; Volpini V; Estivill X; Sala N
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: Gasparini P; Estivill X; Volpini V; Totaro A; Castellvi-Bel S; Govea N; Mila M; Della Monica M; Ventruto V; De Benedetto M; Stanziale P; Zelante L; Mansfield E S; Sandkuijl L; Surrey S; Fortina P
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: Nadal M; Moreno S; Pritchard M; Preciado M A; Estivill X; Ramos-Arroyo M A
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.
1997: Martorell L; Pujana M A; Volpini V; Sanchez A; Joven J; Vilella E; Estivill X
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: Casals T; Pacheco P; Barreto C; Giménez J; Ramos M D; Pereira S; Pinheiro J A; Cobos N; Curvelo A; Vázquez C; Rocha H; Séculi J L; Pérez E; Dapena J; Carrilho E; Duarte A; Palacio A M; Nunes V; Lavinha J; Estivill X
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: Barrientos A; Casademont J; Genís D; Cardellach F; Fernández-Real J M; Grau J M; Urbano-Márquez A; Estivill X; Nunes V
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: Guimera J; Pritchard M; Nadal M; Estivill X
Minibrain (MNBH) is a single copy gene mapping to human chromosome 21q22.2.
Cytogenetics and cell genetics 1997;77(3-4):182-4.
1997: Estivill X; Bancells C; Ramos C
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.
1996: Llevadot R; Scambler P; Estivill X; Pritchard M
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: Sánchez A; Castellví-Bel S; Milà M; Genis D; Calopa M; Jiménez D; Estivill X
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: Lázaro C; Gaona A; Ainsworth P; Tenconi R; Vidaud D; Kruyer H; Ars E; Volpini V; Estivill X
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: Torra R; Nicolau C; Badenas C; Brú C; Pérez L; Estivill X; Darnell A
Abdominal aortic aneurysms and autosomal dominant polycystic kidney disease.
Journal of the American Society of Nephrology : JASN 1996;7(11):2483-6.
1996: Vazquez C; Antiñolo G; Casals T; Dapena J; Elorz J; Seculi J L; Sirvent J; Cabanas R; Soler C; Estivill X
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: Purroy J; Bisceglia L; Calonge M J; Zelante L; Testar X; Zorzano A; Estivill X; Palacín M; Nunes V; Gasparini P
Genomic structure and organization of the human rBAT gene (SLC3A1).
Genomics 1996;37(2):249-52.
1996: Torra R; Badenas C; Darnell A; Nicolau C; Volpini V; Revert L; Estivill X
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: Nadal M; Milà M; Pritchard M; Mur A; Pujals J; Blouin J L; Antonarakis S E; Ballesta F; Estivill X
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: Bisceglia L; Calonge M J; Dello Strologo L; Rizzoni G; de Sanctis L; Gallucci M; Beccia E; Testar X; Zorzano A; Estivill X; Zelante L; Palacin M; Gasparini P; Nunes V
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: Milà M; Castellví-Bel S; Giné R; Vazquez C; Badenas C; Sánchez A; Estivill X
A female compound heterozygote (pre- and full mutation) for the CGG FMR1 expansion.
Human genetics 1996;98(4):419-21.
1996: Guimerá J; Casas C; Pucharcòs C; Solans A; Domènech A; Planas A M; Ashley J; Lovett M; Estivill X; Pritchard M A
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: Pujana M A; Volpini V; Estivill X
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: Tümmler B; Storrs T; Dziadek V; Dörk T; Meitinger T; Golla A; Bertele-Harms R M; Harms H K; Schröder E; Claass A; Rutjes J; Schneppenheim R; Bauer I; Breuel K; Stuhrmann M; Schmidtke J; Lindner M; Eigel A; Horst J; Kaiser R; Lentze M J; Schmidt K; von der Hardt H; Estivill X
Geographic distribution and origin of CFTR mutations in Germany.
Human genetics 1996;97(6):727-31.
1996: Torra R; Alós L; Ramos J; Estivill X
Renal-hepatic-pancreatic dysplasia: an autosomal recessive malformation.
Journal of medical genetics 1996;33(5):409-12.
1996: Barrientos A; Casademont J; Saiz A; Cardellach F; Volpini V; Solans A; Tolosa E; Urbano-Marquez A; Estivill X; Nunes V
Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion.
American journal of human genetics 1996;58(5):963-70.
1996: Milà M; Castellví-Bel S; Sánchez A; Lázaro C; Villa M; Estivill X
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: Barrientos A; Volpini V; Casademont J; Genís D; Manzanares J M; Ferrer I; Corral J; Cardellach F; Urbano-Márquez A; Estivill X; Nunes V
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: Casals T; Gimenez J; Ramos M D; Nunes V; Estivill X
Prenatal diagnosis of cystic fibrosis in a highly heterogeneous population.
Prenatal diagnosis 1996;16(3):215-22.
1996: Soria J M; Morell M; Nicolau I; Estivill X; Sala N
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: Barceló A; Girós M; Albiach V J; Vaquerizo J; Pàmpols T; Estivill X
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: Morral N; Dörk T; Llevadot R; Dziadek V; Mercier B; Férec C; Costes B; Girodon E; Zielenski J; Tsui L C; Tümmler B; Estivill X
Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers.
Human mutation 1996;8(2):149-59.
1996: Bosch A; Guimerà J; Graw S; Gardiner K; Chumakov I; Patterson D; Estivill X
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: Lázaro C; Gaona A; Lynch M; Kruyer H; Ravella A; Estivill X
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: Fuentes J J; Pritchard M A; Planas A M; Bosch A; Ferrer I; Estivill X
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: Calonge M J; Volpini V; Bisceglia L; Rousaud F; de Sanctis L; Beccia E; Zelante L; Testar X; Zorzano A; Estivill X
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: Castellví-Bel S; Milà M; Soler A; Carrió A; Sánchez A; Villa M; Jiménez M D; Estivill X
Prenatal diagnosis of fragile X syndrome: (CGG)n expansion and methylation of chorionic villus samples.
Prenatal diagnosis 1995;15(9):801-7.
1995: Lázaro C; Kruyer H; Gaona A; Estivill X
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: Puig S; Ruiz A; Lázaro C; Castel T; Lynch M; Palou J; Vilalta A; Weissenbach J; Mascaro J M; Estivill X
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: Barrientos A; Casademont J; Solans A; Moral P; Cardellach F; Urbano-Márquez A; Estivill X; Nunes V
The 9-bp deletion in region V of mitochondrial DNA: evidence of mutation recurrence.
Human genetics 1995;96(2):225-8.
1995: Ramos M D; Lalueza C; Girbau E; Pérez-Pérez A; Quevedo S; Turbón D; Estivill X
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: Calonge M J; Nadal M; Calvano S; Testar X; Zelante L; Zorzano A; Estivill X; Gasparini P; Palacín M; Nunes V
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: Bosch A; Guimerà J; Patterson D; Estivill X
Characterisation of three microsatellite polymorphisms (D21S1262, D21S1419 and D21S1421) from band 21q22.1.
Human genetics 1995;95(5):596-8.
1995: Bosch A; Guimerà J; Wiemann S; Ansorge W; Patterson D; Estivill X
Identification of two highly polymorphic CA-repeats (D21S1224 and D21S1261) on human chromosome 21q22.3.
Human genetics 1995;95(3):367-9.
1995: Estivill X; Ortigosa L; Pérez-Frias J; Dapena J; Ferrer J; Peña L; Peña L; Llevadot R; Giménez J; Nunes V
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: Chillón M; Dörk T; Casals T; Giménez J; Fonknechten N; Will K; Ramos D; Nunes V; Estivill X
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: Barceló A; Girós M; Sarde C O; Pintos G; Mandel J L; Pàmpols T; Estivill X
De novo missense mutation Y174S in exon 1 of the adrenoleukodystrophy (ALD) gene.
Human genetics 1995;95(2):235-7.
1995: Costa D; Borrell A; Margarit E; Carrió A; Soler A; Balmes I; Estivill X; Fortuny A
Rapid fetal karyotype from cystic hygroma and pleural effusions.
Prenatal diagnosis 1995;15(2):141-8.
1995: Lazaro C; Gaona A; Ravella A; Volpini V; Estivill X
Prenatal diagnosis of neurofibromatosis type 1: from flanking RFLPs to intragenic microsatellite markers.
Prenatal diagnosis 1995;15(2):129-34.
1995: Casals T; Bassas L; Ruiz-Romero J; Chillón M; Giménez J; Ramos M D; Tapia G; Narváez H; Nunes V; Estivill X
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: Genis D; Matilla T; Volpini V; Rosell J; Dávalos A; Ferrer I; Molins A; Estivill X
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: Bosch A; Wiemann S; Guimerà J; Ansorge W; Patterson D; Estivill X
Five new microsatellite polymorphisms at the q21 region of human chromosome 21.
Human genetics 1995;95(1):119-22.
1995: Torra R; Darnell A; Estivill X; Botey A; Revert L
Interfamilial and intrafamilial variability of clinical expression in ADPKD.
Contributions to nephrology 1995;115():97-101.
1994: Lázaro C; Ravella A; Gaona A; Volpini V; Estivill X
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: Casademont J; Barrientos A; Cardellach F; Rötig A; Grau J M; Montoya J; Beltrán B; Cervantes F; Rozman C; Estivill X
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: Morral N; Llevadot R; Casals T; Gasparini P; Macek M; Dörk T; Estivill X
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: Barceló A; Girós M; Sarde C O; Martínez-Bermejo A; Mandel J L; Pàmpols T; Estivill X
Identification of a new frameshift mutation (1801delAG) in the ALD gene.
Human molecular genetics 1994;3(10):1889-90.
1994: Castellví-Bel S; Matilla T; Banchs M I; Kruyer H; Corral J; Milà M; Estivill X
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: Soria J M; Fontcuberta J; Borrell M; Estivill X; Sala N
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: Soria J M; Brito D; Barceló J; Fontcuberta J; Botero L; Maldonado J; Estivill X; Sala N
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: Morral N; Bertranpetit J; Estivill X; Nunes V; Casals T; Giménez J; Reis A; Varon-Mateeva R; Macek M; Kalaydjieva L
The origin of the major cystic fibrosis mutation (delta F508) in European populations.
Nature genetics 1994;7(2):169-75.
1994: Chillón M; Casals T; Giménez J; Nunes V; Estivill X
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: Chillón M; Casals T; Giménez J; Ramos M D; Palacio A; Morral N; Estivill X; Nunes V
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: Bosch A; Wiemann S; Ansorge W; Patterson D; Estivill X
Three CA/GT repeat polymorphisms from loci D21S414 and D21S1234 on human chromosome 21.
Human genetics 1994;93(3):359-60.
1994: Lázaro C; Gaona A; Estivill X
Two CA/GT repeat polymorphisms in intron 27 of the human neurofibromatosis (NF1) gene.
Human genetics 1994;93(3):351-2.
1994: Kruyer H; Milà M; Glover G; Carbonell P; Ballesta F; Estivill X
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: Matilla T; Corral J; Miranda M; Troyano J; Morrison K; Volpini V; Estivill X
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: Kruyer H; Miranda M; Volpini V; Estivill X
Carrier detection and microsatellite analysis of Duchenne and Becker muscular dystrophy in Spanish families.
Prenatal diagnosis 1994;14(2):123-30.
1994: Kere J; Estivill X; Chillón M; Morral N; Nunes V; Norio R; Savilahti E; de la Chapelle A
Cystic fibrosis in a low-incidence population: two major mutations in Finland.
Human genetics 1994;93(2):162-6.
1994: Banchs I; Bosch A; Guimerà J; Lázaro C; Puig A; Estivill X
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: Bosch A; Guimerà J; Pereira de Souza A; Estivill X
The EUROGEM map of human chromosome 21.
European journal of human genetics : EJHG 1994;2(3):244-5.
1994: Bosch A; Banchs I; Puig A; Vergnaud G; Allamand V; Estivill X
The EUROGEM map of human chromosome 12.
European journal of human genetics : EJHG 1994;2(3):226-7.
1994: Chillón M; Casals T; Giménez J; Nunes V; Estivill X
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: Matilla T; Volpini V; Genís D; Rosell J; Corral J; Dávalos A; Molins A; Estivill X
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: Fuentes J J; Volpini V; Fernández-Toral F; Coto E; Estivill X
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: Bosch A; Nunes V; Patterson D; Estivill X
Isolation and characterization of 14 CA-repeat microsatellites from human chromosome 21.
Genomics 1993;18(1):151-5.
1993: Bosch A; Wiemann S; Guimerà J; Ansorge W; Patterson D; Estivill X
Two dinucleotide repeat polymorphisms at 21q22.3 (D21S416 and D21S1235).
Human molecular genetics 1993;2(10):1744.
1993: Lázaro C; Gaona A; Xu G; Weiss R; Estivill X
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: Chillón M; Casals T; Nunes V; Giménez J; Pérez Ruiz E; Estivill X
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: Chillón M; Casals T; Nunes V; Giménez J; Estivill X
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: Morral N; Nunes V; Casals T; Chillón M; Giménez J; Bertranpetit J; Estivill X
Microsatellite haplotypes for cystic fibrosis: mutation frameworks and evolutionary tracers.
Human molecular genetics 1993;2(7):1015-22.
1993: Bertran J; Werner A; Chillarón J; Nunes V; Biber J; Testar X; Zorzano A; Estivill X; Murer H; Palacín M
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: Lázaro C; Gaona A; Ravella A; Volpini V; Casals T; Fuentes J J; Estivill X
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: Morral N; Nunes V; Casals T; Cobos N; Asensio O; Dapena J; Estivill X
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: Casals T; Nunes V; Palacio A; Giménez J; Gaona A; Ibáñez N; Morral N; Estivill X
Cystic fibrosis in Spain: high frequency of mutation G542X in the Mediterranean coastal area.
Human genetics 1993;91(1):66-70.
1993: Nunes V; Chillón M; Dörk T; Tümmler B; Casals T; Estivill X
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.
1993: Fuentes J J; Banchs I; Volpini V; Estivill X
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.
1992: Chillón M; Palacio A; Nunes V; Estivill X
A rare DNA variant in exon 15 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Human genetics 1992;90(4):474.
1992: Lázaro C; Estivill X
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: Estivill X
[Human genetics: diagnostic and preventive impact of new genetics in medicine]
Medicina clínica 1992;99(7):265-72.
1992: Morral N; Estivill X
Multiplex PCR amplification of three microsatellites within the CFTR gene.
Genomics 1992;13(4):1362-4.
1992: Nunes V; Bonizzato A; Gaona A; Dognini M; Chillón M; Casals T; Pignatti P F; Novelli G; Estivill X; Gasparini P
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: Casals T; Vázquez C; Lázaro C; Girbau E; Giménez F J; Estivill X
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: Morral N; Girbau E; Zielenski J; Nunes V; Casals T; Tsui L C; Estivill X
Dinucleotide (CA/GT) repeat polymorphism in intron 17B of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Human genetics 1992;88(3):356.
1992: Lazaro C; Ravella A; Casals T; Volpini V; Estivill X
Prenatal diagnosis of sporadic neurofibromatosis 1.
Lancet 1992;339(8785):119-20.
1992: Soria J M; Fontcuberta J; Borrell M; Estivill X; Sala N
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: Nunes V; Casals T; Gaona A; Antiñolo G; Ferrer-Calvete J; Pérez-Frias J; Tardío E; Molano J; Estivill X
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: Chillón M; Palacio A; Nunes V; Casals T; Giménez J; Estivill X
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: Estivill X; Lázaro C; Casals T; Ravella A
Recurrence of a nonsense mutation in the NF1 gene causing classical neurofibromatosis type 1.
Human genetics 1991;88(2):185-8.
1991: Casals T; Nunes V; Lázaro C; Giménez F J; Girbau E; Volpini V; Estivill X
Mutation and linkage disequilibrium analysis in genetic counselling of Spanish cystic fibrosis families.
Journal of medical genetics 1991;28(11):771-6.
1991: Chillón M; Nunes V; Estivill X
SSCP-polymorphism in intron 12 of the CFTR gene recognized by BcII.
Nucleic acids research 1991;19(22):6343.
1991: Nunes V; Gaona A; Chillon M; Maña P; Casals T; Cutting G; Estivill X
Prenatal diagnosis of cystic fibrosis by simultaneous analysis of two different mutations.
Prenatal diagnosis 1991;11(8):671-2.
1991: Gasparini P; Nunes V; Dognini M; Estivill X
High conservation of sequences involved in cystic fibrosis mutations in five mammalian species.
Genomics 1991;10(4):1070-2.
1991: Estivill X; Morral N; Casals T; Nunes V
Prenatal diagnosis of cystic fibrosis by multiplex PCR of mutation and microsatellite alleles.
Lancet 1991;338(8764):458.
1991: Morral N; Nunes V; Casals T; Estivill X
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: Bosch A; Kruyer H; Nunes V; Estivill X
MspI restriction fragment length polymorphism near exon 10 of cystic fibrosis (CFTR) gene.
Nucleic acids research 1991;19(7):1719.
1991: Gasparini P; Dognini M; Bonizzato A; Pignatti P F; Morral N; Estivill X
A tetranucleotide repeat polymorphism in the cystic fibrosis gene.
Human genetics 1991;86(6):625.
1990: Kere J; Savilahti E; Norio R; Estivill X; de la Chapelle A
Cystic fibrosis mutation delta F508 in Finland: other mutations predominate.
Human genetics 1990;85(4):413-5.
1990: Chillón M; Nunes V; Casals T; Giménez F J; Fernández E; Benítez J; Estivill X
Distribution of the delta F508 mutation in 194 Spanish cystic fibrosis families.
Human genetics 1990;85(4):396-7.
1990: Nunes V; Chillón M; Lench N; Ramsay M; Estivill X
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: Casals T; Nunes V; Estivill X
A polymorphic DNA probe from chromosome 7 (7q22).
Nucleic acids research 1990;18(10):3108.
1990: Chillón M; Casals T; Giménez F J; Badía H; Morral N; Bosch A; Nunes V; Estivill X
[Use of the polymerase chain reaction technic in the genetic analysis of cystic fibrosis]
Medicina clínica 1990;94(12):444-7.
1990: Nunes V; Ramsay M; Casals T; Chillón M; Lench N; Schwartz M; Estivill X
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: Gasparini P; Novelli G; Estivill X; Olivieri D; Savoia A; Ruzzo A; Nunes V; Borgo G; Antonelli M; Williamson R
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: Estivill X; Chillon M; Casals T; Bosch A; Morral N; Nunes V; Gasparini P; Seia A; Pignatti P F; Novelli G
Delta F508 gene deletion in cystic fibrosis in southern Europe.
Lancet 1989;2(8676):1404.
1989: Nunes V; Casals T; Gallano P; Giménez F J; Kere J; Williamson R; Estivill X
Detection of a rare allele with the pMP6d-9/MspI RFLP near the cystic fibrosis locus.
Human genetics 1989;83(3):305-6.
1989: Estivill X; Gasparini P; Novelli G; Casals T; Nunes V; Gallano P; Savoia A; Ruzzo A; Dallapiccola B; Pignatti P F
Linkage disequilibrium for DNA haplotypes near the cystic fibrosis locus in two south European populations.
Human genetics 1989;83(2):175-8.
1989: Kere J; Norio R; Savilahti E; Estivill X; de la Chapelle A
Cystic fibrosis in Finland: a molecular and genealogical study.
Human genetics 1989;83(1):20-5.
1989: Estivill X; McLean C; Nunes V; Casals T; Gallano P; Scambler P; Williamson R
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.

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