| Year |
Citation |
Score |
| 2020 |
Sánchez A, García-Lareu B, Puig M, Prat E, Ruberte J, Chillón M, Nunes V, Estévez R, Bosch A. Cerebellar Astrocyte Transduction as Gene Therapy for Megalencephalic Leukoencephalopathy. Neurotherapeutics : the Journal of the American Society For Experimental Neurotherapeutics. PMID 32372403 DOI: 10.1007/S13311-020-00865-Y |
0.323 |
|
| 2019 |
Knöpfel EB, Vilches C, Camargo SMR, Errasti-Murugarren E, Stäubli A, Mayayo C, Munier FL, Miroshnikova N, Poncet N, Junza A, Bhattacharya SS, Prat E, Berry V, Berger W, Heon E, ... ... Nunes V, et al. Dysfunctional LAT2 Amino Acid Transporter Is Associated With Cataract in Mouse and Humans. Frontiers in Physiology. 10: 688. PMID 31231240 DOI: 10.3389/Fphys.2019.00688 |
0.332 |
|
| 2018 |
Espino Gaurch M, Font-Llitjós M, Murillo-Cuesta S, Errasti-Murugarren E, Celaya AM, Girotto G, Vuckovic D, Mezzavilla M, Vilches C, Bodoy S, Sahún I, González L, Prat E, Zorzano A, Dierssen M, ... ... Nunes V, et al. Mutations in L-type amino acid transporter-2 support SLC7A8 as a novel gene involved in Age-Related Hearing Loss. Elife. 7. PMID 29355479 DOI: 10.7554/Elife.31511 |
0.358 |
|
| 2017 |
Estévez R, Elorza-Vidal X, Gaitán-Peñas H, Pérez-Rius C, Armand-Ugón M, Alonso-Gardón M, Xicoy-Espaulella E, Sirisi S, Arnedo T, Capdevila-Nortes X, López-Hernández T, Montolio M, Duarri A, Teijido O, Barrallo-Gimeno A, ... ... Nunes V, et al. Megalencephalic leukoencephalopathy with subcortical cysts: A personal biochemical retrospective. European Journal of Medical Genetics. PMID 29079544 DOI: 10.1016/J.Ejmg.2017.10.013 |
0.315 |
|
| 2017 |
Astuti D, Sabir A, Fulton P, Zatyka M, Williams D, Hardy C, Milan G, Favaretto F, Yu-Wai-Man P, Rohayem J, de Heredia ML, Hershey T, Tranebjaerg L, Chen JH, Chaussenot A, ... Nunes V, et al. Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram and Thiamine-responsive megaloblastic anaemia. Human Mutation. PMID 28432734 DOI: 10.1002/Humu.23233 |
0.304 |
|
| 2015 |
Espino M, Font-Llitjós M, Vilches C, Salido E, Prat E, López de Heredia M, Palacín M, Nunes V. Digenic Inheritance in Cystinuria Mouse Model. Plos One. 10: e0137277. PMID 26359869 DOI: 10.1371/Journal.Pone.0137277 |
0.346 |
|
| 2014 |
Sirisi S, Folgueira M, López-Hernández T, Minieri L, Pérez-Rius C, Gaitán-Peñas H, Zang J, Martínez A, Capdevila-Nortes X, De La Villa P, Roy U, Alia A, Neuhauss S, Ferroni S, Nunes V, et al. Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans. Human Molecular Genetics. 23: 5069-86. PMID 24824219 DOI: 10.1093/Hmg/Ddu231 |
0.356 |
|
| 2014 |
García-Cazorla A, Oyarzabal A, Fort J, Robles C, Castejón E, Ruiz-Sala P, Bodoy S, Merinero B, Lopez-Sala A, Dopazo J, Nunes V, Ugarte M, Artuch R, Palacín M, Rodríguez-Pombo P, et al. Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients. Human Mutation. 35: 470-7. PMID 24449431 DOI: 10.1002/Humu.22513 |
0.344 |
|
| 2013 |
Di Giacopo A, Rubio-Aliaga I, Cantone A, Artunc F, Rexhepaj R, Frey-Wagner I, Font-Llitjós M, Gehring N, Stange G, Jaenecke I, Mohebbi N, Closs EI, Palacín M, Nunes V, Daniel H, et al. Differential cystine and dibasic amino acid handling after loss of function of the amino acid transporter b0,+AT (Slc7a9) in mice. American Journal of Physiology. Renal Physiology. 305: F1645-55. PMID 24107421 DOI: 10.1152/Ajprenal.00221.2013 |
0.31 |
|
| 2013 |
Capdevila-Nortes X, López-Hernández T, Apaja PM, López de Heredia M, Sirisi S, Callejo G, Arnedo T, Nunes V, Lukacs GL, Gasull X, Estévez R. Insights into MLC pathogenesis: GlialCAM is an MLC1 chaperone required for proper activation of volume-regulated anion currents. Human Molecular Genetics. 22: 4405-16. PMID 23793458 DOI: 10.1093/Hmg/Ddt290 |
0.344 |
|
| 2013 |
de Heredia ML, Clèries R, Nunes V. Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 15: 497-506. PMID 23429432 DOI: 10.1038/Gim.2012.180 |
0.353 |
|
| 2012 |
Jeworutzki E, López-Hernández T, Capdevila-Nortes X, Sirisi S, Bengtsson L, Montolio M, Zifarelli G, Arnedo T, Müller CS, Schulte U, Nunes V, MartÃnez A, Jentsch TJ, Gasull X, Pusch M, et al. GlialCAM, a protein defective in a leukodystrophy, serves as a ClC-2 Cl(-) channel auxiliary subunit. Neuron. 73: 951-61. PMID 22405205 DOI: 10.1016/J.Neuron.2011.12.039 |
0.313 |
|
| 2012 |
Eggermann T, Zerres K, Nunes V, Font-Llitjós M, Bisceglia L, Chatzikyriakidou A, dello Strologo L, Pras E, Creemers J, Palacin M. Clinical utility gene card for: Cystinuria. European Journal of Human Genetics : Ejhg. 20. PMID 21863055 DOI: 10.1038/Ejhg.2011.163 |
0.385 |
|
| 2011 |
López-Hernández T, Sirisi S, Capdevila-Nortes X, Montolio M, Fernández-Dueñas V, Scheper GC, van der Knaap MS, Casquero P, Ciruela F, Ferrer I, Nunes V, Estévez R. Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts. Human Molecular Genetics. 20: 3266-77. PMID 21624973 DOI: 10.1093/Hmg/Ddr238 |
0.373 |
|
| 2011 |
Duarri A, Lopez de Heredia M, Capdevila-Nortes X, Ridder MC, Montolio M, López-Hernández T, Boor I, Lien CF, Hagemann T, Messing A, Gorecki DC, Scheper GC, Martínez A, Nunes V, van der Knaap MS, et al. Knockdown of MLC1 in primary astrocytes causes cell vacuolation: a MLC disease cell model. Neurobiology of Disease. 43: 228-38. PMID 21440627 DOI: 10.1016/J.Nbd.2011.03.015 |
0.319 |
|
| 2011 |
López-Hernández T, Ridder MC, Montolio M, Capdevila-Nortes X, Polder E, Sirisi S, Duarri A, Schulte U, Fakler B, Nunes V, Scheper GC, Martínez A, Estévez R, van der Knaap MS. Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism. American Journal of Human Genetics. 88: 422-32. PMID 21419380 DOI: 10.1016/J.Ajhg.2011.02.009 |
0.373 |
|
| 2010 |
Chillarón J, Font-Llitjós M, Fort J, Zorzano A, Goldfarb DS, Nunes V, Palacín M. Pathophysiology and treatment of cystinuria. Nature Reviews. Nephrology. 6: 424-34. PMID 20517292 DOI: 10.1038/Nrneph.2010.69 |
0.33 |
|
| 2009 |
Font-Llitjós M, Rodríguez-Santiago B, Espino M, Sillué R, Mañas S, Gómez L, Pérez-Jurado LA, Palacín M, Nunes V. Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat. European Journal of Human Genetics : Ejhg. 17: 71-9. PMID 18716612 DOI: 10.1038/Ejhg.2008.145 |
0.373 |
|
| 2008 |
Duarri A, Teijido O, López-Hernández T, Scheper GC, Barriere H, Boor I, Aguado F, Zorzano A, Palacín M, Martínez A, Lukacs GL, van der Knaap MS, Nunes V, Estévez R. Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects. Human Molecular Genetics. 17: 3728-39. PMID 18757878 DOI: 10.1093/Hmg/Ddn269 |
0.336 |
|
| 2008 |
Abril J, de Heredia ML, González L, Clèries R, Nadal M, Condom E, Aguiló F, Gómez-Zaera M, Nunes V. Altered expression of 12S/MT-RNR1, MT-CO2/COX2, and MT-ATP6 mitochondrial genes in prostate cancer. The Prostate. 68: 1086-96. PMID 18409190 DOI: 10.1002/Pros.20771 |
0.391 |
|
| 2006 |
Domenech E, Gomez-Zaera M, Nunes V. Wolfram/DIDMOAD syndrome, a heterogenic and molecularly complex neurodegenerative disease. Pediatric Endocrinology Reviews : Per. 3: 249-57. PMID 16639390 |
0.326 |
|
| 2006 |
Gómez-Zaera M, Abril J, González L, Aguiló F, Condom E, Nadal M, Nunes V. Identification of somatic and germline mitochondrial DNA sequence variants in prostate cancer patients. Mutation Research. 595: 42-51. PMID 16472830 DOI: 10.1016/J.Mrfmmm.2005.10.012 |
0.388 |
|
| 2006 |
Castro MG, Huerta C, Reguero JR, Soto MI, Doménech E, Alvarez V, Gómez-Zaera M, Nunes V, González P, Corao A, Coto E. Mitochondrial DNA haplogroups in Spanish patients with hypertrophic cardiomyopathy. International Journal of Cardiology. 112: 202-6. PMID 16313983 DOI: 10.1016/J.Ijcard.2005.09.008 |
0.442 |
|
| 2005 |
Casademont J, Rodriguez-Santiago B, Miró O, Beato A, López S, Nunes V, Cardellach F. Mitochondrial respiratory chain in brain homogenates: activities in different brain areas in patients with Alzheimer's disease. Aging Clinical and Experimental Research. 17: 1-7. PMID 15847115 DOI: 10.1007/Bf03337713 |
0.582 |
|
| 2005 |
Palacín M, Nunes V, Font-Llitjós M, Jiménez-Vidal M, Fort J, Gasol E, Pineda M, Feliubadaló L, Chillarón J, Zorzano A. The genetics of heteromeric amino acid transporters. Physiology (Bethesda, Md.). 20: 112-24. PMID 15772300 DOI: 10.1152/Physiol.00051.2004 |
0.303 |
|
| 2005 |
Rodríguez-Santiago B, Nunes V. Expression of mitochondrial genes and transcription estimation in different brain areas in Alzheimer's disease patients. Neurobiology of Disease. 18: 296-304. PMID 15686958 DOI: 10.1016/J.Nbd.2004.10.004 |
0.384 |
|
| 2005 |
Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M, Nunes V. New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype. Journal of Medical Genetics. 42: 58-68. PMID 15635077 DOI: 10.1136/Jmg.2004.022244 |
0.342 |
|
| 2004 |
Domènech E, Kruyer H, Gómez C, Calvo MT, Nunes V. First prenatal diagnosis for Wolfram syndrome by molecular analysis of the WFS1 gene. Prenatal Diagnosis. 24: 787-9. PMID 15503287 DOI: 10.1002/Pd.982 |
0.343 |
|
| 2004 |
Domènech E, Gómez-Zaera M, Nunes V. Study of the WFS1 gene and mitochondrial DNA in Spanish Wolfram syndrome families. Clinical Genetics. 65: 463-9. PMID 15151504 DOI: 10.1111/j.1399-0004.2004.00249.x |
0.36 |
|
| 2004 |
López S, Miró O, Martínez E, Pedrol E, Rodríguez-Santiago B, Milinkovic A, Soler A, García-Viejo MA, Nunes V, Casademont J, Gatell JM, Cardellach F. Mitochondrial effects of antiretroviral therapies in asymptomatic patients. Antiviral Therapy. 9: 47-55. PMID 15040536 |
0.614 |
|
| 2003 |
Miró O, López S, Martínez E, Rodríguez-Santiago B, Blanco JL, Milinkovic A, Miró JM, Nunes V, Casademont J, Gatell JM, Cardellach F. Short communication: reversible mitochondrial respiratory chain impairment during symptomatic hyperlactatemia associated with antiretroviral therapy. Aids Research and Human Retroviruses. 19: 1027-32. PMID 14678610 DOI: 10.1089/088922203322588387 |
0.668 |
|
| 2003 |
Miró O, López S, Pedrol E, Rodríguez-Santiago B, Martínez E, Soler A, Milinkovic A, Casademont J, Nunes V, Gatell JM, Cardellach F. 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. 8: 333-8. PMID 14526764 |
0.59 |
|
| 2003 |
Feliubadaló L, Arbonés ML, Mañas S, Chillarón J, Visa J, Rodés M, Rousaud F, Zorzano A, Palacín M, Nunes V. Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis. Human Molecular Genetics. 12: 2097-108. PMID 12915471 DOI: 10.1093/Hmg/Ddg228 |
0.303 |
|
| 2003 |
Martorell L, Zaera MG, Valero J, Serrano D, Figuera L, Joven J, Labad A, Vilella E, Nunes V. The WFS1 (Wolfram syndrome 1) is not a major susceptibility gene for the development of psychiatric disorders. Psychiatric Genetics. 13: 29-32. PMID 12605098 DOI: 10.1097/00041444-200303000-00005 |
0.323 |
|
| 2002 |
de Semir D, Petriz J, Avinyó A, Larriba S, Nunes V, Casals T, Estivill X, Aran JM. Non-viral vector-mediated uptake, distribution, and stability of chimeraplasts in human airway epithelial cells. The Journal of Gene Medicine. 4: 308-22. PMID 12112648 DOI: 10.1002/Jgm.264 |
0.317 |
|
| 2002 |
Domènech E, Gómez-Zaera M, Nunes V. WFS1 mutations in Spanish patients with diabetes mellitus and deafness. European Journal of Human Genetics : Ejhg. 10: 421-6. PMID 12107816 DOI: 10.1038/Sj.Ejhg.5200823 |
0.36 |
|
| 2001 |
Larriba S, Sumoy L, Ramos MD, 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. 9: 860-6. PMID 11781704 DOI: 10.1038/Sj.Ejhg.5200726 |
0.349 |
|
| 2001 |
Zaera MG, Miró O, Pedrol E, Soler A, Picón M, Cardellach F, Casademont J, Nunes V. Mitochondrial involvement in antiretroviral therapy-related lipodystrophy. Aids (London, England). 15: 1643-51. PMID 11546938 DOI: 10.1097/00002030-200109070-00006 |
0.589 |
|
| 2001 |
Biarnésa J, Rojas I, Fernández-Castañer M, Nunes V, Gómez M, Ricart W. [Analysis of mutations A3243G, C3256T and mitochondrial deletions in 41 diabetic patients]. Medicina Clinica. 116: 292-3. PMID 11333748 DOI: 10.1016/S0025-7753(01)71803-9 |
0.339 |
|
| 2001 |
Rodríguez-Santiago B, Casademont J, Nunes V. Is mitochondrial DNA depletion involved in Alzheimer's disease? European Journal of Human Genetics : Ejhg. 9: 279-85. PMID 11313772 DOI: 10.1038/Sj.Ejhg.5200629 |
0.353 |
|
| 2001 |
Gómez-Zaera M, Strom TM, Rodríguez B, Estivill X, Meitinger T, Nunes V. Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees. Molecular Genetics and Metabolism. 72: 72-81. PMID 11161832 DOI: 10.1006/Mgme.2000.3107 |
0.429 |
|
| 2001 |
Font MA, Feliubadaló L, Estivill X, Nunes V, Golomb E, Kreiss Y, Pras E, Bisceglia L, d'Adamo AP, Zelante L, Gasparini P, Bassi MT, George AL, Manzoni M, Riboni M, et al. Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria. Human Molecular Genetics. 10: 305-16. PMID 11157794 DOI: 10.1093/Hmg/10.4.305 |
0.372 |
|
| 2001 |
Miró O, Gómez M, Pedrol E, Cardellach F, Nunes V, Casademont J. Respiratory chain dysfunction associated with multiple mitochondrial DNA deletions in antiretroviral therapy-related lipodystrophy. Aids (London, England). 14: 1855-7. PMID 10985326 DOI: 10.1097/00002030-200008180-00024 |
0.638 |
|
| 2000 |
Purroy J, Bisceglia L, Jaeken J, Gasparini P, Palacín M, Nunes V. Detection of two novel large deletions in SLC3A1 by semi-quantitative fluorescent multiplex PCR. Human Mutation. 15: 373-9. PMID 10737983 DOI: 10.1002/(Sici)1098-1004(200004)15:4<373::Aid-Humu10>3.0.Co;2-O |
0.343 |
|
| 1999 |
Miró O, Jarreta D, Casademont J, Barrientos A, Rodríguez B, Gómez M, Nunes V, Urbano-Márquez A, Cardellach F. Absence of mitochondrial dysfunction in polymyalgia rheumatica. Evidence based on a simultaneous molecular and biochemical approach. Scandinavian Journal of Rheumatology. 28: 319-23. PMID 10568430 DOI: 10.1080/03009749950155526 |
0.693 |
|
| 1999 |
Feliubadaló L, Font M, Purroy J, Rousaud F, Estivill X, Nunes V, Golomb E, Centola M, Aksentijevich I, Kreiss Y, Goldman B, Pras M, Kastner DL, Pras E, Gasparini P, et al. Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT. Nature Genetics. 23: 52-7. PMID 10471498 DOI: 10.1038/12652 |
0.373 |
|
| 1999 |
Gómez Zaera M, Barrientos A, Arias L, Rojas I, Arruga J, Estivill X, Casademont J, Nunes V. [An analysis of 6 Leber mutations in 31 individuals with optic atrophy. A study of its transmission in 5 families]. Medicina ClíNica. 112: 326-9. PMID 10220763 |
0.509 |
|
| 1999 |
Biarnés J, Barrientos A, Ricart W, Nunes V, Fernández-Castañer M, Soler J. [Diabetes mellitus associated with the A3243G mutation of mitochondrial DNA. Apropos a case]. Medicina ClíNica. 112: 99-101. PMID 10074618 |
0.512 |
|
| 1998 |
Larriba S, Bassas L, Gimenez J, Ramos MD, Segura A, Nunes V, Estivill X, Casals T. Testicular CFTR splice variants in patients with congenital absence of the vas deferens. Human Molecular Genetics. 7: 1739-43. PMID 9736775 DOI: 10.1093/Hmg/7.11.1739 |
0.337 |
|
| 1998 |
Barrientos A, Marín C, Miró O, Casademont J, Gómez M, Nunes V, Tolosa E, Urbano-Márquez A, Cardellach F. Biochemical and molecular effects of chronic haloperidol administration on brain and muscle mitochondria of rats. Journal of Neuroscience Research. 53: 475-81. PMID 9710267 DOI: 10.1002/(Sici)1097-4547(19980815)53:4<475::Aid-Jnr9>3.0.Co;2-3 |
0.676 |
|
| 1998 |
Casals T, Ramos MD, Giménez J, Nadal M, Nunes V, Estivill X. Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis. Human Mutation. S99-102. PMID 9452054 DOI: 10.1002/Humu.1380110133 |
0.334 |
|
| 1997 |
Barrientos A, Casademont J, Cardellach F, Estivill X, Urbano-Marquez A, Nunes V. Reduced steady-state levels of mitochondrial RNA and increased mitochondrial DNA amount in human brain with aging. Brain Research. Molecular Brain Research. 52: 284-9. PMID 9495550 DOI: 10.1016/S0169-328X(97)00278-7 |
0.702 |
|
| 1997 |
Barrientos A, Casademont J, Cardellach F, Ardite E, Estivill X, Urbano-Márquez A, Fernández-Checa JC, Nunes V. Qualitative and quantitative changes in skeletal muscle mtDNA and expression of mitochondrial-encoded genes in the human aging process. Biochemical and Molecular Medicine. 62: 165-71. PMID 9441868 DOI: 10.1006/Bmme.1997.2647 |
0.703 |
|
| 1997 |
Casals T, Ramos MD, 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. 101: 365-70. PMID 9439669 DOI: 10.1007/S004390050643 |
0.353 |
|
| 1997 |
Barrientos A, Casademont J, Genís D, Cardellach F, Fernández-Real JM, Grau JM, 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. 10: 212-6. PMID 9298821 DOI: 10.1002/(Sici)1098-1004(1997)10:3<212::Aid-Humu6>3.0.Co;2-K |
0.724 |
|
| 1997 |
Conget I, Barrientos A, Manzanares JM, Casademont J, Viñas O, Barceló J, Nunes V, Gomis R, Cardellach F. Respiratory chain activity and mitochondrial DNA content of nonpurified and purified pancreatic islet cells. Metabolism: Clinical and Experimental. 46: 984-7. PMID 9284883 DOI: 10.1016/S0026-0495(97)90265-1 |
0.686 |
|
| 1997 |
Purroy J, Bisceglia L, Calonge MJ, 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. 37: 249-52. PMID 8921402 DOI: 10.1006/Geno.1996.0552 |
0.33 |
|
| 1996 |
Barrientos A, Casademont J, Nunes V. [Rearrangement of the mitochondrial DNA in Kearns-Sayre syndrome: is it necessary to differentiate deletions from duplications or polymerization?]. Neurología (Barcelona, Spain). 11: 257-60. PMID 8974426 |
0.569 |
|
| 1996 |
Casademont J, Barrientos A, Grau JM, Pedrol E, Estivill X, Urbano-Márquez A, Nunes V. The effect of zidovudine on skeletal muscle mtDNA in HIV-1 infected patients with mild or no muscle dysfunction. Brain : a Journal of Neurology. 119: 1357-64. PMID 8813297 DOI: 10.1093/Brain/119.4.1357 |
0.51 |
|
| 1996 |
Bisceglia L, Calonge MJ, 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. 98: 447-51. PMID 8792820 DOI: 10.1007/S004390050237 |
0.372 |
|
| 1996 |
Casals T, Gimenez J, Ramos MD, Nunes V, Estivill X. Prenatal diagnosis of cystic fibrosis in a highly heterogeneous population. Prenatal Diagnosis. 16: 215-22. PMID 8710774 DOI: 10.1002/(Sici)1097-0223(199603)16:3<215::Aid-Pd838>3.0.Co;2-7 |
0.334 |
|
| 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. 58: 963-70. PMID 8651280 |
0.699 |
|
| 1996 |
Barrientos A, Volpini V, Casademont J, Genís D, Manzanares JM, 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. 97: 1570-6. PMID 8601620 DOI: 10.1172/Jci118581 |
0.712 |
|
| 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. 96: 225-8. PMID 7635476 DOI: 10.1007/Bf00207385 |
0.695 |
|
| 1995 |
Barrientos A, Casademont J, Grau JM, Cardellach F, Montoya J, Estivill X, Urbano-Márquez A, Nunes V. [Progressive external ophthalmoplegia and the Kearns-Sayre syndrome: a clinical and molecular study of 6 cases]. Medicina ClíNica. 105: 180-4. PMID 7630231 |
0.71 |
|
| 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. 3: 223-30. PMID 7517264 DOI: 10.1002/Humu.1380030308 |
0.359 |
|
| 1994 |
Chillón M, Casals T, Giménez J, Ramos MD, 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. 93: 447-51. PMID 7513293 DOI: 10.1007/Bf00201673 |
0.357 |
|
| 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. 91: 66-70. PMID 8454290 DOI: 10.1007/Bf00230225 |
0.334 |
|
| 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. 2: 1015-22. PMID 7689896 DOI: 10.1093/Hmg/2.7.1015 |
0.364 |
|
| 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. 2: 677-681. PMID 7689007 DOI: 10.1093/Hmg/2.6.677 |
0.389 |
|
| 1993 |
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. 1: 75-6. PMID 1284477 DOI: 10.1002/Humu.1380010113 |
0.357 |
|
| 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. 10: 692-8. PMID 1716244 DOI: 10.1016/0888-7543(91)90454-M |
0.373 |
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| 1991 |
Estivill X, Morral N, Casals T, Nunes V. Prenatal diagnosis of cystic fibrosis by multiplex PCR of mutation and microsatellite alleles. Lancet (London, England). 338: 458. PMID 1678127 DOI: 10.1016/0140-6736(91)91092-9 |
0.325 |
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| 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. 18: 4957. PMID 1975668 DOI: 10.1093/Nar/18.16.4957 |
0.331 |
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