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    1. Gomez-Zaera, M; Strom, TM; Rodriguez, B; Estivill, X; Meitinger, T; Nunes, V
      Presence of a major WFS1 mutation in Spanish wolfram syndrome pedigrees

      MOLECULAR GENETICS AND METABOLISM
    2. Morton, RE; Nunes, V; Izem, L; Quintao, E
      Markedly elevated lipid transfer inhibitor protein in hypercholesterolemicsubjects is mitigated by plasma triglyceride levels

      ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
    3. Rodriguez-Santiago, B; Casademont, J; Nunes, V
      Is mitochondrial DNA depletion involved in Alzheimer's disease?

      EUROPEAN JOURNAL OF HUMAN GENETICS
    4. Font, M; Feliubadalo, 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; Ballabio, A; Borsani, G; Reig, N; Fernandez, E; Zorzano, A; Bertran, J; Palacin, M
      Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria

      HUMAN MOLECULAR GENETICS
    5. Zaera, MG; Miro, O; Pedrol, E; Soler, A; Picon, M; Cardellach, F; Casademont, J; Nunes, V
      Mitochondrial involvement in antiretroviral therapy-related lipodystrophy

      AIDS
    6. Nunes, V; Cataldo, J; Casaravilla, G
      Evaluation of Uruguay's wind potential

      INGENIERIA QUIMICA
    7. Bisceglia, L; Purroy, J; Jimenez-Vidal, M; d'Adamo, AP; Rousaud, F; Beccia, E; Penza, R; Rizzoni, G; Gallucci, M; Palacin, M; Gasparini, P; Nunes, V; Zelante, L
      Cystinuria type I: Identification of eight new mutations in SLC3A1

      KIDNEY INTERNATIONAL
    8. Biarnes, J; Rojas, I; Gomez, M; Ricart, W; Fernandez-Castaner, M; Nunes, V
      Analysis of mtDNA point mutations A3243G, C3256T and mtDNA deletions in 41diabetic patients

      MEDICINA CLINICA
    9. Purroy, J; Bisceglia, L; Jaeken, J; Gasparini, P; Palacin, M; Nunes, V
      Detection of two novel large deletions in SLC3A1 by semi-quantitative fluorescent multiplex PCR

      HUMAN MUTATION
    10. Miro, O; Gomez, M; Pedrol, E; Cardellach, F; Nunes, V; Casademont, J
      Respiratory chain dysfunction associated with multiple mitochondrial DNA deletions in antiretroviral therapy-related lipodystrophy

      AIDS
    11. Borda, JT; Nunes-Bastos, V; Perez-Escala, S; Sanchez-Negrette, M
      Histopathological characterization of nephritides in the brown capuchin monkey, Cebus apella (Primates : Cebidae)

      REVISTA DE BIOLOGIA TROPICAL
    12. Feliubadalo, 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; Bisceglia, L; Beccia, E; Gallucci, M; de Sanctis, L; Ponzone, A; Rizzoni, GF; Zelante, L; Bassi, MT; George, AL; Manzoni, M; De Grandi, A; Riboni, M; Endsley, JK; Ballabio, A; Borsani, G; Reig, N; Fernandez, E; Estevez, R; Pineda, M; Torrents, D; Camps, M; Lloberas, J; Zorzano, A; Palacin, M
      Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (b(o,+)AT) of rBAT

      NATURE GENETICS
    13. Torrents, D; Mykkanen, J; Pineda, M; Feliubadalo, L; Estevez, R; de Cid, R; Sanjurjo, P; Zorzano, A; Nunes, V; Huoponen, K; Reinikainen, A; Simell, O; Savontaus, ML; Aula, P; Palacin, M
      Identification of SLC7A7, encoding y(+)LAT-1, as the lysinuric protein intolerance gene

      NATURE GENETICS
    14. Feliubadalo, L; Bisceglia, L; Font, M; Dello Strologo, L; Beccia, E; Arslan-Kirchner, M; Steinmann, B; Zelante, L; Estivill, X; Zorzano, A; Palacin, M; Gasparini, P; Nunes, V
      Recombinant families locate the gene for non-type I cystinuria between markers C13 and D19S587 on chromosome 19q13.1

      GENOMICS
    15. Miro, O; Jarreta, D; Casademont, J; Barrientos, A; Rodriguez, B; Gomez, M; Nunes, V; Urbano-Marquez, A; Cardellach, F
      Absence of mitochondrial dysfunction in polymyalgia rheumatica - Evidence based on a simultaneous molecular and biochemical approach

      SCANDINAVIAN JOURNAL OF RHEUMATOLOGY
    16. Zaera, MG; Barrientos, A; Arias, L; Rojas, I; Arruga, J; Estivill, X; Casademont, J; Nunes, V
      Leber's hereditary optic neuropathy mutations in 31 Spanish individuals affected by optic atrophy; segregation studies in 5 families

      MEDICINA CLINICA
    17. Biarnes, J; Barrientos, A; Ricart, W; Nunes, V; Fernandez-Castaner, M; Soler, J
      Diabetes mellitus associated with the A3243G mutation of mitochondrial DNA. Description of one case

      MEDICINA CLINICA
    18. Farias-Silva, E; Grassi-Kassisse, DM; Wolf-Nunes, V; Spadari-Bratfisch, RC
      Stress-induced alteration in the lipolytic response to beta-adrenoceptor agonists in rat white adipocytes

      JOURNAL OF LIPID RESEARCH
    19. CASALS T; RAMOS MD; GIMENEZ J; NADAL M; NUNES V; ESTIVILL X
      PATERNAL ORIGIN OF A DE-NOVO NOVEL CFTR MUTATION (L1065R) CAUSING CYSTIC-FIBROSIS

      Human mutation
    20. GOMEZZAERA M; BARRIENTOS A; ARIAS L; ROJAS I; ARRUGA J; CASADEMONT J; ESTIVILL X; NUNES V
      MOLECULAR ANALYSIS OF LEBERS HEREDITARY OPTIC NEUROPATHY (LHON) IN THE SPANISH POPULATION

      European journal of human genetics
    21. GOMEZZAERA M; OLIVE M; GENIS D; CASADEMONT J; ESTIVILL X; NUNES V
      MOLECULAR FINDINGS IN 5 PATIENTS WITH LIPOMATOSIS

      European journal of human genetics
    22. 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 (Print)
    23. BARRIENTOS A; MARIN C; MIRO O; CASADEMONT J; GOMEZ M; NUNES V; TOLOSA E; URBANOMARQUEZ A; CARDELLACH F
      BIOCHEMICAL AND MOLECULAR EFFECTS OF CHRONIC HALOPERIDOL ADMINISTRATION ON BRAIN AND MUSCLE MITOCHONDRIA OF RATS

      Journal of neuroscience research
    24. BARRIENTOS A; CASADEMONT J; CARDELLACH F; ARDITE E; ESTIVILL X; URBANOMARQUEZ A; FERNANDEZCHECA 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
    25. CASALS T; PACHECO P; BARRETO C; GIMENEZ J; RAMOS MD; PEREIRA S; PINHEIRO JA; COBOS N; CURVELO A; VAZQUEZ C; ROCHA H; SECULI JL; PEREZ E; DAPENA J; CARRILHO E; DUARTE A; PALACIO AM; NUNES V; LAVINHA J; ESTIVILL X
      MISSENSE MUTATION R1066C IN THE 2ND TRANSMEMBRANE DOMAIN OF CFTR CAUSES A SEVERE CYSTIC-FIBROSIS PHENOTYPE - STUDY OF 19 HETEROZYGOUS AND 2HOMOZYGOUS PATIENTS

      Human mutation
    26. BARRIENTOS A; CASADEMONT J; GENIS D; CARDELLACH F; FERNANDEZREAL JM; GRAU JM; URBANOMARQUEZ A; ESTIVILL X; NUNES V
      SPORADIC HETEROPLASMIC SINGLE 5.5 KB MITOCHONDRIAL-DNA DELETION ASSOCIATED WITH CEREBELLAR-ATAXIA, HYPOGONADOTROPIC HYPOGONADISM, CHOROIDALDYSTROPHY, AND MITOCHONDRIAL RESPIRATORY-CHAIN COMPLEX-I DEFICIENCY

      Human mutation
    27. DELLOSTROLOGO L; CARBONARI D; GALLUCCI M; GASPARINI P; BISCEGLIA L; ZELANTE L; ROSAUD F; NUNES V; PALACIN M; RIZZONI G
      INTERFAMILIAL AND INTRAFAMILIAL CLINICAL VARIABILITY IN PATIENTS WITHCYSTINURIA TYPE-I AND IDENTIFIED MUTATION

      Journal of the American Society of Nephrology
    28. CASALS T; RAMOS MD; GIMENEZ J; LARRIBA S; NUNES V; ESTIVILL X
      HIGH HETEROGENEITY FOR CYSTIC-FIBROSIS IN SPANISH FAMILIES - 75 MUTATIONS ACCOUNT FOR 90-PERCENT OF CHROMOSOMES

      Human genetics
    29. BARRIENTOS A; CASADEMONT J; CARDELLACH F; ESTIVILL X; URBANOMARQUEZ A; NUNES V
      REDUCED STEADY-STATE LEVELS OF MITOCHONDRIAL RNA AND INCREASED MITOCHONDRIAL-DNA AMOUNT IN HUMAN BRAIN WITH AGING

      Molecular brain research
    30. RIZZONI G; DELLOSTROLOGO L; GASPARINI P; ZELANTE L; BISCEGLIA L; NUNES V; PALACIN M
      RECENT DATA ON CYSTINURIA

      Annales de pediatrie
    31. GOMEZZAERA M; BARRIENTOS T; CASADEMONT J; CARDELLACH F; URBANOMARQUEZ A; ESTIVILL X; NUNES V
      MITOCHONDRIAL-DNA (MTDNA) MUTATION HETEROGENEITY IN 13 SPANISH FAMILIES WITH WOLFRAM-SYNDROME

      American journal of human genetics
    32. BISCEGLIA L; CALONGE MJ; TOTARO A; FELIUBADALO L; MELCHIONDA S; GARCIA J; TESTAR X; GALLUCCI M; PONZONE A; ZELANTE L; ZORZANO A; ESTIVILL X; GASPARINI P; NUNES V; PALACIN M
      LOCALIZATION, BY LINKAGE ANALYSIS, OF THE CYSTINURIA TYPE-III GENE TOCHROMOSOME 19Q13.1

      American journal of human genetics
    33. CATALDO J; NUNES V
      WIND POWER ASSESSMENT IN URUGUAY

      Renewable energy
    34. NUNES V; GENTA JL
      MICRO AND MINI HYDROELECTRIC POWER ASSESSMENT IN URUGUAY

      Renewable energy
    35. PALACIN M; MORA C; CHILLARON J; CALONGE MJ; ESTEVEZ R; TORRENTS D; TESTAR X; ZORZANO A; NUNES V; PURROY J; ESTIVILL X; GASPARINI P; BISCEGLIA L; ZELANTE L
      THE MOLECULAR-BASIS OF CYSTINURIA - THE ROLE OF THE RBAT GENE

      Amino acids
    36. PURROY J; BISCEGLIA L; CALONGE MJ; ZELANTE L; TESTAR X; ZORZANO A; ESTIVILL X; PALACIN M; NUNES V; GASPARINI P
      GENOMIC STRUCTURE AND ORGANIZATION OF THE HUMAN RBAT GENE (SLC3A1)

      Genomics
    37. BISCEGLIA L; CALONGE MJ; DELLOSTROLOGO L; RIZZONI G; DESANCTIS 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 OF4 NEW MUTATIONS, ONE LARGE DELETION, AND ONE POLYMORPHISM

      Human genetics
    38. CASALS T; GIMENEZ J; RAMOS MD; NUNES V; ESTIVILL X
      PRENATAL-DIAGNOSIS OF CYSTIC-FIBROSIS IN A HIGHLY HETEROGENEOUS POPULATION

      Prenatal diagnosis
    39. ARAUJO MS; ANDREOTTI R; TIAEN M; NUNES V; OLIVA ML; SAMPAIO M; IIMURA O; SHIMAMOTO K; URA N; SAMPAIO C
      CAIMAN CROCODILUS YACARE PLASMA KININOGEN DETECTION

      Immunopharmacology
    40. CASADEMONT J; BARRIENTOS A; GENIS D; ESTIVILL X; URBANOMARQUEZ A; NUNES V
      5.5 KB HETEROPLASMIC MITOCHONDRIAL-DNA DELETION IN A PATIENT WITH ATAXIA, HYPOGONADISM, AND CHOROID DYSTROPHY

      Neurology
    41. BARRIENTOS A; VOLPINI V; CASADEMONT J; GENIS D; MANZANARES JM; FERRER I; CORRAL J; CARDELLACH F; URBANOMARQUEZ 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
    42. MORA C; CHILLARON J; CALONGE MJ; FORGO J; TESTAR X; NUNES V; MURER H; ZORZANO A; PALACIN M
      THE RBAT GENE IS RESPONSIBLE FOR L-CYSTINE UPTAKE VIA THE B(0,-LIKE AMINO-ACID-TRANSPORT SYSTEM IN A RENAL PROXIMAL TUBULAR CELL-LINE (OK CELLS)())

      The Journal of biological chemistry
    43. CASADEMONT J; BARRIENTOS A; GRAU JM; PEDROL E; ESTIVILL X; URBANOMARQUEZ A; NUNES V
      THE EFFECT OF ZIDOVUDINE ON SKELETAL-MUSCLE MTDNA IN HIV-1-INFECTED PATIENTS WITH MILD OR NO MUSCLE DYSFUNCTION

      Brain
    44. BARRIENTOS A; CASADEMONT J; SAIZ A; CARDELLACH F; VOLPINI V; SOLANS A; TOLOSA E; URBANOMARQUEZ A; ESTIVILL X; NUNES V
      AUTOSOMAL RECESSIVE WOLFRAM-SYNDROME ASSOCIATED WITH AN 8.5-KB MTDNA SINGLE DELETION

      American journal of human genetics
    45. BARRIENTOS A; CASADEMONT J; SOLANS A; MORAL P; CARDELLACH F; URBANOMARQUEZ A; ESTIVILL X; NUNES V
      THE 9-BP DELETION IN REGION-V OF MITOCHONDRIAL-DNA - EVIDENCE OF MUTATION RECURRENCE

      Human genetics
    46. CALONGE MJ; NADAL M; CALVANO S; TESTAR X; ZELANTE L; ZORZANO A; ESTIVILL X; GASPARINI P; PALACIN 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
    47. ESTIVILL X; ORTIGOSA L; PEREZFRIAS J; DAPENA J; FERRER J; PENA J; PENA L; LLEVADOT R; GIMENEZ J; NUNES V; COBOS N; VAZQUEZ C; CASALS T
      CLINICAL CHARACTERISTICS OF 16 CYSTIC-FIBROSIS PATIENTS WITH THE MISSENSE MUTATION R334W, A PANCREATIC INSUFFICIENCY MUTATION WITH VARIABLEAGE-OF-ONSET AND INTERFAMILIAL CLINICAL DIFFERENCES

      Human genetics
    48. CASALS T; BASSAS L; RUIZROMERO J; CHILLON M; GIMENEZ J; RAMOS MD; TAPIA G; NARVAEZ H; NUNES V; ESTIVILL X
      EXTENSIVE ANALYSIS OF 40 INFERTILE PATIENTS WITH CONGENITAL ABSENCE OF THE VAS-DEFERENS - IN 50-PERCENT OF CASES ONLY ONE CFTR ALLELE COULDBE DETECTED

      Human genetics
    49. CHILLON M; CASALS T; MERCIER B; BASSAS L; LISSENS W; SILBER S; ROMEY MC; RUIZROMERO J; VERLINGUE C; CLAUSTRES M; NUNES V; FEREC C; ESTIVILL X
      MUTATIONS IN THE CYSTIC-FIBROSIS GENE IN PATIENTS WITH CONGENITAL ABSENCE OF THE VAS-DEFERENS

      The New England journal of medicine
    50. CALONGE MJ; VOLPINI V; BISCEGLIA L; ROUSAUD F; DESANCTIS L; BECCIA E; ZELANTE L; TESTAR X; ZORZANO A; ESTIVILL X; GASPARINI P; NUNES V; PALACIN M
      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 Statesof America
    51. BARRIENTOS A; CASADEMONT J; GRAU JM; CARDELLACH F; MONTOYA J; ESTIVILL X; URBANOMARQUEZ A; NUNES V
      PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA AND THE KEARNS-SAYRE-SYNDROME - CLINICAL AND MOLECULAR STUDY OF 6 CASES

      Medicina Clinica
    52. ROUSAUD F; ROUSAUD A; NUNES V; BARCELO P; PALACIN M
      PROGRESS IN THE GENERICS OF CYSTINURIA

      Annales d'Urologie
    53. BARRIENTOS A; CASADEMONT J; VOLPINI V; CARDELLACH F; ESTIVILL X; URBANOMARQUEZ A; NUNES V
      GENETIC-HETEROGENEITY OF WOLFRAM-SYNDROME

      American journal of human genetics
    54. CALONGE MJ; VOLPINI V; BISCEGLIA L; PURROY J; ROUSAUD F; DESANCTIS L; BECCIA E; ZELANTE L; TESTAR X; ZORZANO A; PONZONE A; ESTIVILL X; GASPARINI P; PALACIN M; NUNES V
      GENETIC-HETEROGENEITY IN CYSTINURIA - NEW MUTATIONS AND POLYMORPHISMS

      American journal of human genetics
    55. GASPARINI P; CALONGE MJ; BISCEGLIA L; PURROY J; DIANZANI I; NOTARANGELO A; ROUSAUD F; GALLUCCI M; TESTAR X; PONZONE A; ESTIVILL X; ZORZANO A; PALACIN M; NUNES V; ZELANTE L
      MOLECULAR-GENETICS OF CYSTINURIA - IDENTIFICATION OF 4 NEW MUTATIONS AND 7 POLYMORPHISMS, AND EVIDENCE FOR GENETIC-HETEROGENEITY

      American journal of human genetics
    56. CHILLON M; DORK T; CASALS T; GIMENEZ 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-]G, PRODUCES A NEW EXON - HIGH-FREQUENCY IN SPANISH CYSTIC-FIBROSIS CHROMOSOMES AND ASSOCIATION WITH SEVERE PHENOTYPE(1.6KBA)

      American journal of human genetics
    57. MORRAL N; BERTRANPETIT J; ESTIVILL X; NUNES V; CASALS T; GIMENEZ J; REIS A; VARONMATEEVA R; MACEK M; KALAYDJIEVA L; ANGELICHEVA D; DANCHEVA R; ROMEO G; RUSSO MP; GARNERONE S; RESTAGNO G; FERRARI M; MAGNANI C; CLAUSTRES M; DESGEORGES M; SCHWARTZ M; SCHWARZ M; DALLAPICCOLA B; NOVELLI G; FEREC C; DEARCE M; NEMETI M; KERE T; ANVRET M; DAHL N; KADASI L
      THE ORIGIN OF THE MAJOR CYSTIC-FIBROSIS MUTATION (DELTA-F508) IN EUROPEAN POPULATIONS

      Nature genetics
    58. CALONGE MT; GASPARINI P; CHILLARON J; CHILLON M; GALLUCCI M; ROUSAUD F; ZELANTE L; TESTAR X; DALLAPICCOLA B; DISILVERIO F; BARCELO P; ESTIVILL X; ZORZANO A; NUNES V; PALACIN M
      CYSTINURIA CAUSED BY MUTATIONS IN RBAT, A GENE INVOLVED IN THE TRANSPORT OF CYSTINE

      Nature genetics
    59. CHILLON M; CASALS T; GIMENEZ J; NUNES V; ESTIVILL X
      ANALYSIS OF THE CFTR GENE IN THE SPANISH POPULATION - SSCP-SCREENING FOR 60 KNOWN MUTATIONS AND IDENTIFICATION OF 4 NEW MUTATIONS (Q30X, A120T, 1812-1 G-]A, AND 3667DEL4)

      Human mutation
    60. CASADEMONT J; BARRIENTOS A; CARDELLACH F; ROTIG A; GRAU JM; MONTOYA J; BELTRAN B; CERVANTES F; ROZMAN C; ESTIVILL X; URBANOMARQUEZ A; NUNES V
      MULTIPLE DELETIONS OF MTDNA IN 2 BROTHERS WITH SIDEROBLASTIC ANEMIA AND MITOCHONDRIAL MYOPATHY AND IN THEIR ASYMPTOMATIC MOTHER

      Human molecular genetics
    61. CHILLON M; CASALS T; GIMENEZ J; RAMOS MD; PALACIO A; MORRAL N; ESTIVILL X; NUNES V
      ANALYSIS OF THE CFTR GENE CONFIRMS THE HIGH HETEROGENEITY OF THE SPANISH POPULATION - 43 MUTATIONS ACCOUNT FOR ONLY 78-PERCENT OF CF CHROMOSOMES

      Human genetics
    62. KERE J; ESTIVILL X; CHILLON M; MORRAL N; NUNES V; NORIO R; SAVILAHTI E; DELACHAPELLE A
      CYSTIC-FIBROSIS IN A LOW-INCIDENCE POPULATION - 2 MAJOR MUTATIONS IN FINLAND

      Human genetics
    63. CHILLON M; CASALS T; GIMENEZ J; NUNES V; ESTIVILL X
      A CYSTIC-FIBROSIS PATIENT HOMOZYGOUS FOR THE NEW FRAMESHIFT MUTATION 936DELTA - DESCRIPTION AND CLINICAL-DATA

      Journal of Medical Genetics
    64. RAMSAY M; WILLIAMSON R; ESTIVILL X; WAINWRIGHT BJ; HO MF; HALFORD S; KERE J; SAVILAHTI E; DELACHAPELLE A; SCHWARTZ M; SCHWARTZ M; SUPER M; FARNDON P; HARDING C; MEREDITH L; ALJADER L; FEREC C; CLAUSTRES M; CASALS T; NUNES V; GASPARINI P; SAVOIA A; PIGNATTI PF; NOVELLI G; GENNARELLI M; DALLAPICCOLA B; KALAYDJIEVA L; SCAMBLER PJ
      HAPLOTYPE ANALYSIS TO DETERMINE THE POSITION OF A MUTATION AMONG CLOSELY LINKED DNA MARKERS (VOL 2, PG 1007, 1993)

      Human molecular genetics
    65. CHILLON M; CASALS T; NUNES V; GIMENEZ J; ESTIVILL X
      IDENTIFICATION OF A 31-BP INSERTION (3860INS31) IN EXON-20 OF THE CYSTIC-FIBROSIS (CFTR) GENE

      Human molecular genetics
    66. RAMSAY M; WILLIAMSON R; ESTIVILL X; WAINWRIGHT BJ; HO MF; HALFORD S; KERE J; SAVILAHTI E; DELACHAPELLE A; SCHWARTZ M; SCHWARTZ M; SUPER M; FARNDON P; HARDING C; MEREDITH L; ALJADER L; FEREC C; CLAUSTRES M; CASALS T; NUNES V; GASPARINI P; SAVOIA A; PIGNATTI PF; NOVELLI G; BENNARELLI M; DALLAPICCOLA B; KALAYDJIEVA L; SCAMBLER PJ
      HAPLOTYPE ANALYSIS TO DETERMINE THE POSITION OF A MUTATION AMONG CLOSELY LINKED DNA MARKERS

      Human molecular genetics
    67. MORRAL N; NUNES V; CASALS T; CHILLON M; GIMENEZ J; BERTRANPETIT J; ESTIVILL X
      MICROSATELLITE HAPLOTYPES FOR CYSTIC-FIBROSIS - MUTATION FRAMEWORKS AND EVOLUTIONARY TRACERS

      Human molecular genetics
    68. 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
    69. CHILLON M; CASALS T; NUNES V; GIMENEZ J; RUIZ EP; ESTIVILL X
      IDENTIFICATION OF A NEW MISSENSE MUTATION (P205S) IN THE 1ST TRANSMEMBRANE DOMAIN OF THE CFTR GENE ASSOCIATED WITH A MILD CYSTIC-FIBROSIS PHENOTYPE

      Human molecular genetics
    70. BOSCH A; NUNES V; PATTERSON D; ESTIVILL X
      ISOLATION AND CHARACTERIZATION OF 14 CA-REPEAT MICROSATELLITES FROM HUMAN CHROMOSOME-21

      Genomics
    71. BERTRAN J; WERNER A; CHILLARON J; NUNES V; BIBER J; TESTAR X; ZORZANO A; ESTIVILL X; MURER H; PALACIN 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
    72. MORRAL N; BERTRANPETIT J; ESTIVILL X; NUNES V; CASALS T; GIMENEZ J
      TRACING THE ORIGIN OF THE DELTA-F508 MUTATION IN EUROPE

      American journal of human genetics


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Documento generato il 06/06/20 alle ore 14:06:23