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Virginia Nunes

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Elena Jeworutzki; Tania López-Hernández; Albert Martínez; Marisol Montolio; Catrin S Müller; Virginia Nunes; Michael Pusch; Uwe Schulte; Sònia Sirisi; Giovanni Zifarelli; Tanit Arnedo; Luiza Bengtsson; Xavier Capdevila-Nortes; Xavier Gasull; Thomas J Jentsch; Raúl Estévez
GlialCAM, a protein defective in a leukodystrophy, serves as a ClC-2 Cl(-) channel auxiliary subunit.
Tania López-Hernández; Marisol Montolio; Virginia Nunes; Gert C Scheper; Sònia Sirisi; Marjo S van der Knaap; Xavier Capdevila-Nortes; Pilar Casquero; Francisco Ciruela; Victor Fernández-Dueñas; Isidre Ferrer; Raúl Estévez
Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts.
Anna Duarri; Miguel Lopez de Heredia; Xavier Capdevila-Nortes; Margreet C Ridder; Marisol Montolio; Tania López-Hernández; Ilja Boor; Chun-Fu Lien; Tracy Hagemann; Albee Messing; Dariusz C Gorecki; Gert C Scheper; Albert Martínez; Virginia Nunes; Marjo S van der Knaap; Raúl Estévez
Knockdown of MLC1 in primary astrocytes causes cell vacuolation: a MLC disease cell model.

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All Publications

2012: Elena Jeworutzki; Tania López-Hernández; Albert Martínez; Marisol Montolio; Catrin S Müller; Virginia Nunes; Michael Pusch; Uwe Schulte; Sònia Sirisi; Giovanni Zifarelli; Tanit Arnedo; Luiza Bengtsson; Xavier Capdevila-Nortes; Xavier Gasull; Thomas J Jentsch; Raúl Estévez
GlialCAM, a protein defective in a leukodystrophy, serves as a ClC-2 Cl(-) channel auxiliary subunit.
Neuron 2012;73(5):951-61.
2011: Tania López-Hernández; Marisol Montolio; Virginia Nunes; Gert C Scheper; Sònia Sirisi; Marjo S van der Knaap; Xavier Capdevila-Nortes; Pilar Casquero; Francisco Ciruela; Victor Fernández-Dueñas; Isidre Ferrer; Raúl Estévez
Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts.
Human molecular genetics 2011;20(16):3266-77.
2011: Anna Duarri; Miguel Lopez de Heredia; Xavier Capdevila-Nortes; Margreet C Ridder; Marisol Montolio; Tania López-Hernández; Ilja Boor; Chun-Fu Lien; Tracy Hagemann; Albee Messing; Dariusz C Gorecki; Gert C Scheper; Albert Martínez; Virginia Nunes; Marjo S van der Knaap; Raúl Estévez
Knockdown of MLC1 in primary astrocytes causes cell vacuolation: a MLC disease cell model.
Neurobiology of disease 2011;43(1):228-38.
2011: Tania López-Hernández; Margreet C Ridder; Marisol Montolio; Xavier Capdevila-Nortes; Emiel Polder; Sònia Sirisi; Anna Duarri; Uwe Schulte; Bernd Fakler; Virginia Nunes; Gert C Scheper; Albert Martínez; Raúl Estévez; Marjo S van der Knaap
Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism.
American journal of human genetics 2011;88(4):422-32.
2010: Josep Chillarón; Mariona Font-Llitjós; Joana Fort; Antonio Zorzano; David S Goldfarb; Virginia Nunes; Manuel Palacín
Pathophysiology and treatment of cystinuria.
Nature reviews. Nephrology 2010;6(7):424-34.
2008: Jesús Abril; Miguel Lopez de Heredia; Laura González; Ramon Clèries; marga nadal; Enric Condom; Fernando Aguiló; Montserrat Gómez-Zaera; Virginia Nunes
Altered expression of 12S/MT-RNR1, MT-CO2/COX2, and MT-ATP6 mitochondrial genes in prostate cancer.
The Prostate 2008;68(10):1086-96.
2008: Xavier Sole; Pilar Hernández; Miguel Lopez de Heredia; Lluis Armengol; Benjamín Rodríguez-Santiago; Laia Gómez; Christopher A Maxwell; Fernando Aguiló; Enric Condom; Jesús Abril; Luis A Pérez Jurado; Xavier Estivill; Virginia Nunes; Gabriel Capellá; Stephen B Gruber; Victor Moreno; Miguel Angel Pujana
Genetic and genomic analysis modeling of germline c-MYC overexpression and cancer susceptibility.
BMC genomics 2008;9():12.
2007: Mariona Font-Llitjós; Lidia Feliubadaló; Meritxell Espino; Ramon Clèries; Sandra Mañas; Isabelle M Frey; Sara Puertas; Guillem Colell; Sergio Palomo; Jessica Aranda; Joana Visa; Manuel Palacín; Virginia Nunes
Slc7a9 knockout mouse is a good cystinuria model for antilithiasic pharmacological studies.
American journal of physiology. Renal physiology 2007;293(3):F732-40.
2007: marga nadal; Guillem Pera; Jaume Pujadas; Jesús Abril; Laura González; Fernando Aguiló; Enric Condom; Montserrat Gómez-Zaera; Virginia Nunes
Aneuploidy of chromosome Y in prostate tumors and seminal vesicles: a possible sign of aging rather than an indicator of carcinogenesis?
Molecular carcinogenesis 2007;46(7):543-52.
2006: Mónica G Castro; Cecilia Huerta; Julián R Reguero; María Isabel Soto; Enric Doménech; Victoria Alvarez; Montserrat Gómez-Zaera; Virginia Nunes; Pelayo González; Ana Corao; Eliecer Coto
Mitochondrial DNA haplogroups in Spanish patients with hypertrophic cardiomyopathy.
International journal of cardiology 2006;112(2):202-6.
2006: Montserrat Gómez-Zaera; Jesús Abril; Laura González; Fernando Aguiló; Enric Condom; marga nadal; Virginia Nunes
Identification of somatic and germline mitochondrial DNA sequence variants in prostate cancer patients.
Mutation research 2006;595(1-2):42-51.
2005: marga nadal; Guillem Pera; Montserrat Gómez-Zaera; Jesús Abril; José Francisco Suárez; Fernando Aguiló; Enric Condom; Virginia Nunes
Tissue imprints or primary cultures: which strategy to use to study cytogenetic clonality?
Diagnostic molecular pathology : the American journal of surgical pathology, part B 2005;14(4):243-6.
2005: Virginia Nunes; Mariona Font-Llitjos; Maite Jimenez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacin; Virginia Nunes
Gene symbol: SLC3A1. Disease: Cystinuria.
Human genetics 2005;116(6):541.
2005: Manuel Palacín; Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Joana Fort; Emma Gasol; Manuel Pineda; Lidia Feliubadaló; Josep Chillarón; Antonio Zorzano
The genetics of heteromeric amino acid transporters.
Physiology (Bethesda, Md.) 2005;20():112-24.
2005: Benjamín Rodríguez-Santiago; Virginia Nunes
Expression of mitochondrial genes and transcription estimation in different brain areas in Alzheimer's disease patients.
Neurobiology of disease 2005;18(2):296-304.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacín
Gene symbol: SLC3A1. Disease: cystinuria.
Human genetics 2005;116(3):246.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacín
Gene symbol: SLC3A1. Disease: cystinuria.
Human genetics 2005;116(3):245.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacín
Gene symbol: SLC3A1. Disease: cystinuria.
Human genetics 2005;116(3):244.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacín
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Human genetics 2005;116(3):244.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacín
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Human genetics 2005;116(3):243.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacín
Gene symbol: SLC3A1. Disease: cystinuria.
Human genetics 2005;116(3):243.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Manuel Palacín
Gene symbol: SLC3A1. Disease: cystinuria.
Human genetics 2005;116(3):243.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacín
Gene symbol: SLC3A1. Disease: cystinuria.
Human genetics 2005;116(3):242.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; F Rousad; Leopoldo Zelante; Manuel Palacín
Gene symbol: SLC3A1. Disease: cystinuria.
Human genetics 2005;116(3):242.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacín
Gene symbol: SLC3A1. Disease: cystinuria.
Human genetics 2005;116(3):241.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Manuel Palacín
Gene symbol: SLC3A1. Disease: cystinuria.
Human genetics 2005;116(3):241.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Manuel Palacín
Gene symbol: SLC3A1. Disease: cystinuria.
Human genetics 2005;116(3):240.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacín
Gene symbol: SLC7A9. Disease: cystinuria, untyped.
Human genetics 2005;116(3):239.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacín
Gene symbol: SLC3A1. Disease: cystinuria.
Human genetics 2005;116(3):239.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacín
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Human genetics 2005;116(3):239.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacín
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Human genetics 2005;116(3):238.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jimenez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacín
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Human genetics 2005;116(3):237.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacín
Gene symbol: SLC7A9. Disease: cystinuria, type I.
Human genetics 2005;116(3):237.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacín
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Human genetics 2005;116(3):237.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacín
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Human genetics 2005;116(3):236.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacín
Gene symbol: SLC3A1. Disease: cystinuria.
Human genetics 2005;116(3):235.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacín
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Human genetics 2005;116(3):234.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacín
Gene symbol: SLC7A9. Disease: cystinuria, untyped.
Human genetics 2005;116(3):234.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacín
Gene symbol: SLC3A1. Disease: cystinuria.
Human genetics 2005;116(3):233.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacín
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Human genetics 2005;116(3):232.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacín
Gene symbol: SLC3A1. Disease: cystinuria.
Human genetics 2005;116(3):232.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; L Biceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacín; V Nunes
Gene symbol: SLC3A1. Disease: cystinuria.
Human genetics 2005;116(3):232.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacín; V Nunes
Gene symbol: SLC3A1. Disease: cystinuria.
Human genetics 2005;116(3):231.
2005: Virginia Nunes; Mariona Font-Llitjós; Maite Jiménez-Vidal; Luigi Bisceglia; Michele Di Perna; Luisa de Sanctis; Ferran Rousaud; Leopoldo Zelante; Manuel Palacín
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Human genetics 2005;116(3):231.
2004: Enric Domènech; Helena Kruyer; Carolina Gómez; Maria Teresa Calvo; Virginia Nunes
First prenatal diagnosis for Wolfram syndrome by molecular analysis of the WFS1 gene.
Prenatal diagnosis 2004;24(10):787-9.
2004: Manuel Pineda; Mariona Font; Maria Teresa Bassi; Marta Manzoni; Giuseppe Borsani; Valeria Marigo; Esperanza Fernández; Rafael Martín del Río; Jesús Purroy; Antonio Zorzano; Virginia Nunes; Manuel Palacín
The amino acid transporter asc-1 is not involved in cystinuria.
Kidney international 2004;66(4):1453-64.
2004: Enric Domènech; Montserrat Gómez-Zaera; Virginia Nunes
Study of the WFS1 gene and mitochondrial DNA in Spanish Wolfram syndrome families.
Clinical genetics 2004;65(6):463-9.
2004: Maite Jiménez-Vidal; Emma Gasol; Antonio Zorzano; Virginia Nunes; Manuel Palacín; Josep Chillarón
Thiol modification of cysteine 327 in the eighth transmembrane domain of the light subunit xCT of the heteromeric cystine/glutamate antiporter suggests close proximity to the substrate binding site/permeation pathway.
The Journal of biological chemistry 2004;279(12):11214-21.
2004: Sònia López; Oscar Miró; Esteban Martínez; Enric Pedrol; Benjamín Rodríguez-Santiago; Ana Milinkovic; Anna Soler; Miguel A García-Viejo; Virginia Nunes; Jordi Casademont; José M Gatell; Francesc Cardellach
Mitochondrial effects of antiretroviral therapies in asymptomatic patients.
Antiviral therapy 2004;9(1):47-55.
2003: Oscar Miró; Sònia López; Esteban Martínez; Benjamín Rodríguez-Santiago; José L Blanco; Ana Milinkovic; Jose M Miró; Virginia Nunes; Jordi Casademont; José M Gatell; Francesc Cardellach
Short communication: reversible mitochondrial respiratory chain impairment during symptomatic hyperlactatemia associated with antiretroviral therapy.
AIDS research and human retroviruses 2003;19(11):1027-32.
2003: Lidia Feliubadaló; Maria L Arbonés; Sandra Mañas; Josep Chillarón; Joana Visa; Margot Rodés; Ferran Rousaud; Antonio Zorzano; Manuel Palacín; Virginia Nunes
Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis.
Human molecular genetics 2003;12(17):2097-108.
2003: Oscar Miró; Sònia López; Enric Pedrol; Benjamín Rodríguez-Santiago; Esteban Martínez; Anna Soler; Ana Milinkovic; Jordi Casademont; Virginia Nunes; José M Gatell; Francesc Cardellach
Mitochondrial DNA depletion and respiratory chain enzyme deficiencies are present in peripheral blood mononuclear cells of HIV-infected patients with HAART-related lipodystrophy.
Antiviral therapy 2003;8(4):333-8.
2003: David de Semir; marga nadal; Juan R González; Sara Larriba; Anna Avinyó; Virginia Nunes; Teresa Casals; Xavier Estivill; Josep M Aran
Suitability of oligonucleotide-mediated cystic fibrosis gene repair in airway epithelial cells.
The journal of gene medicine 2003;5(7):625-39.
2002: Luca Dello Strologo; Elon Pras; Claudia Pontesilli; Ercole Beccia; Vittorino Ricci-Barbini; Luisa de Sanctis; Alberto Ponzone; Michele Gallucci; Luigi Bisceglia; Leopoldo Zelante; Maite Jimenez-Vidal; Mariona Font; Antonio Zorzano; Ferran Rousaud; Virginia Nunes; Paolo Gasparini; Manuel Palacín; Gianfranco Rizzoni
Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification.
Journal of the American Society of Nephrology : JASN 2002;13(10):2547-53.
2002: Enric Domènech; Montserrat Gómez-Zaera; Virginia Nunes
WFS1 mutations in Spanish patients with diabetes mellitus and deafness.
European journal of human genetics : EJHG 2002;10(7):421-6.
2002: David de Semir; Anna Avinyó; Sara Larriba; Virginia Nunes; Teresa Casals; Xavier Estivill; Josep M Aran
Quantitative assessment of chimeraplast stability in biological fluids by polyacrylamide gel electrophoresis and laser-assisted fluorescence analysis.
Pharmaceutical research 2002;19(6):914-8.
2002: David de Semir; Jordi Petriz; Anna Avinyó; Sara Larriba; Virginia Nunes; Teresa Casals; Xavier Estivill; Josep M Aran
Non-viral vector-mediated uptake, distribution, and stability of chimeraplasts in human airway epithelial cells.
The journal of gene medicine 2002;4(3):308-22.
2001: Sara Larriba; Lauro Sumoy; Maria Dolors Ramos; Javier Giménez; Xavier Estivill; Teresa Casals; Virginia Nunes
ATB(0)/SLC1A5 gene. Fine localisation and exclusion of association with the intestinal phenotype of cystic fibrosis.
European journal of human genetics : EJHG 2001;9(11):860-6.
2001: M G Zaera; Oscar Miró; Enric Pedrol; Anna Soler; M Picón; Francesc Cardellach; Jordi Casademont; Virginia Nunes
Mitochondrial involvement in antiretroviral therapy-related lipodystrophy.
AIDS (London, England) 2001;15(13):1643-51.
2001: Benjamín Rodríguez-Santiago; Jordi Casademont; Virginia Nunes
[Is there a relation between Alzheimer s disease and defects of mitochondrial DNA?].
Revista de neurologia 2001;33(4):301-5.
2001: Benjamín Rodríguez-Santiago; Jordi Casademont; Virginia Nunes
Is mitochondrial DNA depletion involved in Alzheimer's disease?
European journal of human genetics : EJHG 2001;9(4):279-85.
2001: Luigi Bisceglia; Jesús Purroy; Maite Jiménez-Vidal; A P d'Adamo; Ferran Rousaud; Ercole Beccia; R Penza; Gianfranco Rizzoni; Michele Gallucci; Manuel Palacín; Paolo Gasparini; Virginia Nunes; Leopoldo Zelante
Cystinuria type I: identification of eight new mutations in SLC3A1.
Kidney international 2001;59(4):1250-6.
2001: Mariona Font; Lidia Feliubadaló; X Estivill; Virginia Nunes; E Golomb; Y Kreiss; Elon Pras; Luigi Bisceglia; A P d'Adamo; Leopoldo Zelante; Paolo Gasparini; Maria Teresa Bassi; A L George ; Marta Manzoni; M Riboni; Andrea Ballabio; Giuseppe Borsani; Núria Reig; Esperanza Fernández; Antonio Zorzano; Joan Bertran; Manuel Palacín
Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria.
Human molecular genetics 2001;10(4):305-16.
2001: Montserrat Gómez-Zaera; T M Strom; B Rodríguez; X Estivill; T Meitinger; Virginia Nunes
Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees.
Molecular genetics and metabolism 2001;72(1):72-81.
2000: Oscar Miró; M Gómez; Enric Pedrol; Francesc Cardellach; Virginia Nunes; Jordi Casademont
Respiratory chain dysfunction associated with multiple mitochondrial DNA deletions in antiretroviral therapy-related lipodystrophy.
AIDS (London, England) 2000;14(12):1855-7.
2000: Jesús Purroy; Luigi Bisceglia; J Jaeken; Paolo Gasparini; Manuel Palacín; Virginia Nunes
Detection of two novel large deletions in SLC3A1 by semi-quantitative fluorescent multiplex PCR.
Human mutation 2000;15(4):373-9.
1999: Lidia Feliubadaló; Luigi Bisceglia; Mariona Font; Luca Dello Strologo; Ercole Beccia; M Arslan-Kirchner; B Steinmann; Leopoldo Zelante; X Estivill; Antonio Zorzano; Manuel Palacín; Paolo Gasparini; Virginia Nunes
Recombinant families locate the gene for non-type I cystinuria between markers C13 and D19S587 on chromosome 19q13.1.
Genomics 1999;60(3):362-5.
1999: Montserrat Gómez-Zaera; Antoni Barrientos; Luis Arias; I Rojas; Jorge Arruga; X Estivill; J Casademont; Virginia Nunes
[An analysis of 6 Leber mutations in 31 individuals with optic atrophy. A study of its transmission in 5 families].
Medicina clínica 1999;112(9):326-9.
1999: David Torrents; Juha Mykkänen; Manuel Pineda; Lidia Feliubadaló; Raúl Estévez; Rafael de Cid; P Sanjurjo; Antonio Zorzano; Virginia Nunes; Kirsi Huoponen; A Reinikainen; Olli Simell; Marja-Liisa Savontaus; Pertti Aula; Manuel Palacín
Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene.
Nature genetics 1999;21(3):293-6.
1998: Sara Larriba; Lluís Bassas; J Gimenez; Maria Dolors Ramos; A Segura; Virginia Nunes; Xavier Estivill; Teresa Casals
Testicular CFTR splice variants in patients with congenital absence of the vas deferens.
Human molecular genetics 1998;7(11):1739-43.
1998: Teresa Casals; Maria Dolors Ramos; Javier Giménez; marga nadal; Virginia Nunes; Xavier Estivill
Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis.
Human mutation 1998;Suppl 1():S99-102.
1997: Teresa Casals; Maria Dolors Ramos; Javier Giménez; Sara Larriba; Virginia Nunes; Xavier Estivill
High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes.
Human genetics 1997;101(3):365-70.
1997: Luigi Bisceglia; M J Calonge; Angela Totaro; Lidia Feliubadaló; Salvatore Melchionda; J García; Xavier Testar; Michele Gallucci; Alberto Ponzone; Leopoldo Zelante; Antonio Zorzano; X Estivill; Paolo Gasparini; Virginia Nunes; Manuel Palacín
Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1.
American journal of human genetics 1997;60(3):611-6.
1997: Teresa Casals; P Pacheco; Celeste Barreto; Javier Giménez; Maria Dolors Ramos; S Pereira; J A Pinheiro; N Cobos; A Curvelo; C Vázquez; H Rocha; J L Séculi; E Pérez; J Dapena; E Carrilho; A Duarte; AM Palacio; Virginia Nunes; João Lavinha; Xavier Estivill
Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: study of 19 heterozygous and 2 homozygous patients.
Human mutation 1997;10(5):387-92.
1996: J Purroy; Luigi Bisceglia; M J Calonge; Leopoldo Zelante; Xavier Testar; Antonio Zorzano; Xavier Estivill; Manuel Palacín; Virginia Nunes; Paolo Gasparini
Genomic structure and organization of the human rBAT gene (SLC3A1).
Genomics 1996;37(2):249-52.
1996: Luigi Bisceglia; M J Calonge; Luca Dello Strologo; Gianfranco Rizzoni; Luisa de Sanctis; M Gallucci; E Beccia; Xavier Testar; Antonio Zorzano; Xavier Estivill; Leopoldo Zelante; M Palacin; Paolo Gasparini; Virginia Nunes
Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism.
Human genetics 1996;98(4):447-51.
1996: C Mora; J Chillarón; M J Calonge; J Forgo; Xavier Testar; Virginia Nunes; Heini Murer; Antonio Zorzano; Manuel Palacín
The rBAT gene is responsible for L-cystine uptake via the b0,(+)-like amino acid transport system in a "renal proximal tubular" cell line (OK cells).
The Journal of biological chemistry 1996;271(18):10569-76.
1996: Teresa Casals; J Gimenez; Maria Dolors Ramos; Virginia Nunes; Xavier Estivill
Prenatal diagnosis of cystic fibrosis in a highly heterogeneous population.
Prenatal diagnosis 1996;16(3):215-22.
1995: M J Calonge; marga nadal; S Calvano; Xavier Testar; Leopoldo Zelante; Antonio Zorzano; Xavier Estivill; Paolo Gasparini; Manuel Palacín; Virginia Nunes
Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization.
Human genetics 1995;95(6):633-6.
1995: Xavier Estivill; luis ortigosa; J Pérez-Frias; J Dapena; J Ferrer; L Peña; L Peña; R Llevadot; Javier Giménez; Virginia Nunes
Clinical characteristics of 16 cystic fibrosis patients with the missense mutation R334W, a pancreatic insufficiency mutation with variable age of onset and interfamilial clinical differences.
Human genetics 1995;95(3):331-6.
1995: M Chillón; Thilo Dörk; Teresa Casals; Javier Giménez; N Fonknechten; K Will; D Ramos; Virginia Nunes; Xavier Estivill
A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA-->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype.
American journal of human genetics 1995;56(3):623-9.
1995: Teresa Casals; L Bassas; J Ruiz-Romero; M Chillón; Javier Giménez; Maria Dolors Ramos; G Tapia; H Narváez; Virginia Nunes; Xavier Estivill
Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected.
Human genetics 1995;95(2):205-11.
1994: N Morral; Jaume Bertranpetit; Xavier Estivill; Virginia Nunes; Teresa Casals; Javier Giménez; A Reis; R Varon-Mateeva; M Macek; Luba Kalaydjieva
The origin of the major cystic fibrosis mutation (delta F508) in European populations.
Nature genetics 1994;7(2):169-75.
1994: M Chillón; Teresa Casals; Javier Giménez; Virginia Nunes; Xavier Estivill
A cystic fibrosis patient homozygous for the new frameshift mutation 936delTA: description and clinical data.
Journal of medical genetics 1994;31(5):369-70.
1994: M Chillón; Teresa Casals; Javier Giménez; Maria Dolors Ramos; A Palacio; N Morral; Xavier Estivill; Virginia Nunes
Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes.
Human genetics 1994;93(4):447-51.
1994: Juha Kere; Xavier Estivill; M Chillón; N Morral; Virginia Nunes; Reijo Norio; E Savilahti; Albert de La Chapelle
Cystic fibrosis in a low-incidence population: two major mutations in Finland.
Human genetics 1994;93(2):162-6.
1994: M Chillón; Teresa Casals; Javier Giménez; Virginia Nunes; Xavier Estivill
Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G-->A, and 3667del4).
Human mutation 1994;3(3):223-30.
1993: A Bosch; Virginia Nunes; D Patterson; Xavier Estivill
Isolation and characterization of 14 CA-repeat microsatellites from human chromosome 21.
Genomics 1993;18(1):151-5.
1993: M Chillón; Teresa Casals; Virginia Nunes; Javier Giménez; E Pérez Ruiz; Xavier Estivill
Identification of a new missense mutation (P205S) in the first transmembrane domain of the CFTR gene associated with a mild cystic fibrosis phenotype.
Human molecular genetics 1993;2(10):1741-2.
1993: M Chillón; Teresa Casals; Virginia Nunes; Javier Giménez; Xavier Estivill
Identification of a 31-bp insertion (3860ins31) in exon 20 of the cystic fibrosis (CFTR) gene.
Human molecular genetics 1993;2(8):1317-8.
1993: J Bertran; Andreas Werner; J Chillarón; Virginia Nunes; Jürg Biber; Xavier Testar; Antonio Zorzano; Xavier Estivill; Heini Murer; Manuel Palacín
Expression cloning of a human renal cDNA that induces high affinity transport of L-cystine shared with dibasic amino acids in Xenopus oocytes.
The Journal of biological chemistry 1993;268(20):14842-9.
1993: N Morral; Virginia Nunes; Teresa Casals; M Chillón; Javier Giménez; Jaume Bertranpetit; Xavier Estivill
Microsatellite haplotypes for cystic fibrosis: mutation frameworks and evolutionary tracers.
Human molecular genetics 1993;2(7):1015-22.
1993: N Morral; Virginia Nunes; Teresa Casals; N Cobos; O Asensio; J Dapena; Xavier Estivill
Uniparental inheritance of microsatellite alleles of the cystic fibrosis gene (CFTR): identification of a 50 kilobase deletion.
Human molecular genetics 1993;2(6):677-81.
1993: Teresa Casals; Virginia Nunes; A Palacio; Javier Giménez; A Gaona; N Ibáñez; N Morral; Xavier Estivill
Cystic fibrosis in Spain: high frequency of mutation G542X in the Mediterranean coastal area.
Human genetics 1993;91(1):66-70.
1993: Virginia Nunes; M Chillón; Thilo Dörk; B Tümmler; Teresa Casals; Xavier Estivill
A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype.
Human molecular genetics 1993;2(1):79-80.
1992: M Chillón; A Palacio; Virginia Nunes; Xavier Estivill
A rare DNA variant in exon 15 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Human genetics 1992;90(4):474.
1992: Virginia Nunes; Alberto Bonizzato; A Gaona; M Dognini; M Chillón; Teresa Casals; Pier Franco Pignatti; Giuseppe Novelli; Xavier Estivill; Paolo Gasparini
A frameshift mutation (2869insG) in the second transmembrane domain of the CFTR gene: identification, regional distribution, and clinical presentation.
American journal of human genetics 1992;50(5):1140-2.
1992: N Morral; E Girbau; Julian Zielenski; Virginia Nunes; Teresa Casals; L C Tsui; Xavier Estivill
Dinucleotide (CA/GT) repeat polymorphism in intron 17B of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Human genetics 1992;88(3):356.
1992: Virginia Nunes; Teresa Casals; A Gaona; Guillermo Antiñolo; J Ferrer-Calvete; J Pérez-Frias; E Tardío; J Molano; Xavier Estivill
Cystic fibrosis patients with mutation 1949del84 in exon 13 of the CFTR gene have a similar clinical severity as delta F508 homozygotes.
Human mutation 1992;1(5):375-9.
1992: M Chillón; A Palacio; Virginia Nunes; Teresa Casals; Javier Giménez; Xavier Estivill
Identification of a frameshift mutation (1609delCA) in exon 10 of the CFTR gene in seven Spanish cystic fibrosis patients.
Human mutation 1992;1(1):75-6.
1991: M Chillón; Virginia Nunes; Xavier Estivill
SSCP-polymorphism in intron 12 of the CFTR gene recognized by BcII.
Nucleic acids research 1991;19(22):6343.
1991: Teresa Casals; Virginia Nunes; Conxi Lázaro; F J Giménez; E Girbau; Victor Volpini; Xavier Estivill
Mutation and linkage disequilibrium analysis in genetic counselling of Spanish cystic fibrosis families.
Journal of medical genetics 1991;28(11):771-6.
1991: Virginia Nunes; Paolo Gasparini; Giuseppe Novelli; A Gaona; Alberto Bonizzato; Federica Sangiuolo; A Balassopoulou; F J Giménez; M Dognini; M Ravnik-Glavac
Analysis of 14 cystic fibrosis mutations in five south European populations.
Human genetics 1991;87(6):737-8.
1991: Virginia Nunes; A Gaona; Miguel Chillon; P Maña; Teresa Casals; Garry R Cutting; Xavier Estivill
Prenatal diagnosis of cystic fibrosis by simultaneous analysis of two different mutations.
Prenatal diagnosis 1991;11(8):671-2.
1991: Paolo Gasparini; Virginia Nunes; M Dognini; Xavier Estivill
High conservation of sequences involved in cystic fibrosis mutations in five mammalian species.
Genomics 1991;10(4):1070-2.
1991: N Morral; Virginia Nunes; Teresa Casals; Xavier Estivill
CA/GT microsatellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossingover.
Genomics 1991;10(3):692-8.
1991: Paolo Gasparini; Virginia Nunes; A Savoia; M Dognini; N Morral; A Gaona; Alberto Bonizzato; Miguel Chillon; Federica Sangiuolo; Giuseppe Novelli
The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences.
Genomics 1991;10(1):193-200.
1991: A Bosch; Helena Kruyer; Virginia Nunes; Xavier Estivill
MspI restriction fragment length polymorphism near exon 10 of cystic fibrosis (CFTR) gene.
Nucleic acids research 1991;19(7):1719.
1990: M Chillón; Virginia Nunes; Teresa Casals; F J Giménez; E Fernández; J Benítez; Xavier Estivill
Distribution of the delta F508 mutation in 194 Spanish cystic fibrosis families.
Human genetics 1990;85(4):396-7.
1990: Virginia Nunes; M Chillón; N Lench; M Ramsay; Xavier Estivill
PCR detection of the pKM.19/ScrfI RFLP (D7S23), a marker closely linked to the cystic fibrosis mutation.
Nucleic acids research 1990;18(16):4957.
1990: Giuseppe Novelli; Federica Sangiuolo; Bruno Dallapiccola; Paolo Gasparini; A Savoia; Pier Franco Pignatti; E Fernandez; J Benitez; Teresa Casals; Virginia Nunes
Delta F508 gene deletion and prenatal diagnosis of cystic fibrosis in Italian and Spanish families.
Prenatal diagnosis 1990;10(6):413-4.
1990: T Casals; Virginia Nunes; Xavier Estivill
A polymorphic DNA probe from chromosome 7 (7q22).
Nucleic acids research 1990;18(10):3108.
1990: Z Estivill; Virginia Nunes; P Gallano
[Molecular genetics in the research and diagnosis of human pathology].
Medicina clínica 1990;94(14):541-7.
1990: M Chillón; Teresa Casals; F J Giménez; H Badía; N Morral; A Bosch; Virginia Nunes; Xavier Estivill
[Use of the polymerase chain reaction technic in the genetic analysis of cystic fibrosis].
Medicina clínica 1990;94(12):444-7.
1990: Virginia Nunes; M Ramsay; Teresa Casals; M Chillón; N Lench; M Schwartz; Xavier Estivill
ScrfI restriction fragment length polymorphism at the D7S23 locus (probe pKM. 19), closely linked to cystic fibrosis.
Nucleic acids research 1990;18(5):1318.
1990: Paolo Gasparini; Giuseppe Novelli; Xavier Estivill; D Olivieri; A Savoia; A Ruzzo; Virginia Nunes; G Borgo; M Antonelli; R Williamson
The genotype of a new linked DNA marker, MP6d-9, is related to the clinical course of cystic fibrosis.
Journal of medical genetics 1990;27(1):17-20.
1989: Virginia Nunes; Teresa Casals; P Gallano; F J Giménez; J Kere; R Williamson; Xavier Estivill
Detection of a rare allele with the pMP6d-9/MspI RFLP near the cystic fibrosis locus.
Human genetics 1989;83(3):305-6.
1989: Xavier Estivill; Paolo Gasparini; Giuseppe Novelli; Teresa Casals; Virginia Nunes; P Gallano; A Savoia; A Ruzzo; Bruno Dallapiccola; Pier Franco Pignatti
Linkage disequilibrium for DNA haplotypes near the cystic fibrosis locus in two south European populations.
Human genetics 1989;83(2):175-8.
1989: Xavier Estivill; C McLean; Virginia Nunes; Teresa Casals; P Gallano; P Scambler; R Williamson
Isolation of a new DNA marker in linkage disequilibrium with cystic fibrosis, situated between J3.11 (D7S8) and IRP.
American journal of human genetics 1989;44(5):704-10.