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    1. Mateu, E; Calafell, F; Ramos, MD; Casals, T; Bertranpetit, J
      Can a place of origin of the main cystic fibrosis mutations be identified?

      AMERICAN JOURNAL OF HUMAN GENETICS
    2. Geddes, D
      Perspectives in gene therapy

      PEDIATRIC PULMONOLOGY
    3. Fontaine, E; Jardin, A
      Abnormality of male internal genital organs and repercussion on fertility.

      PROGRES EN UROLOGIE
    4. Heim, RA; Sugarman, EA; Allitto, BA
      Improved detection of cystic fibrosis mutations in the heterogeneous US population using an expanded, pan-ethnic mutation panel

      GENETICS IN MEDICINE
    5. Orgad, S; Neumann, S; Loewenthal, R; Netanelov-Shapira, I; Gazit, E
      Prevalence of cystic fibrosis mutations in Israeli Jews

      GENETIC TESTING
    6. Zsengeller, ZK; Ross, GF; Trapnell, BC; Szabo, C; Whitsett, JA
      Adenovirus infection increases iNOS and peroxynitrite production in the lung

      AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY
    7. Wine, JJ
      Cystic fibrosis: The 'bicarbonate before chloride' hypothesis

      CURRENT BIOLOGY
    8. Mouchel, N; Tebbutt, SJ; Broackes-Carter, FC; Sahota, V; Summerfield, T; Gregory, DJ; Harris, A
      The sheep genome contributes to localization of control elements in a human gene with complex regulatory mechanisms

      GENOMICS
    9. Sedlacek, RL; Carlin, RW; Singh, AK; Schultz, BD
      Neurotransmitter-stimulated ion transport by cultured porcine vas deferensepithelium

      AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY
    10. Morrison, DF; Murtaugh, MP
      Adenovirus-mediated expression of interleukin-1 receptor antagonist in swine cells in vitro and in vivo

      VETERINARY IMMUNOLOGY AND IMMUNOPATHOLOGY
    11. Orozco, L; Gonzalez, L; Chavez, M; Velazquez, R; Lezana, JL; Saldana, Y; Villarreal, T; Carnevale, A
      XV-2c/KM-19 haplotype analysis of cystic fibrosis mutations in Mexican patients

      AMERICAN JOURNAL OF MEDICAL GENETICS
    12. Attardo, T; Vicari, E; Mollica, F; Grazioso, C; Burrello, N; Garofalo, MR; Lizzio, MN; Garigali, G; Cannizzaro, M; Ruvolo, G; D'Agata, R; Calogero, AE
      Genetic, andrological and clinical characteristics of patients with congenital bilateral absence of the vas deferens

      INTERNATIONAL JOURNAL OF ANDROLOGY
    13. Shulman, LP; Elias, S
      Cystic fibrosis

      CLINICS IN PERINATOLOGY
    14. Wine, JJ; Kuo, E; Hurlock, G; Moss, RB
      Comprehensive mutation screening in a cystic fibrosis center

      PEDIATRICS
    15. Gallati, S
      Genetics of cystic fibrosis

      MONATSSCHRIFT KINDERHEILKUNDE
    16. Rosenecker, J; Rudolph, C
      Gene therapy of cystic fibrosis

      MONATSSCHRIFT KINDERHEILKUNDE
    17. Visich, AA; Barreiro, CZ; Chertkoff, LP
      Characterization of three microsatellites of the cystic fibrosis gene in Argentine families

      MEDICINA-BUENOS AIRES
    18. Feriotto, G; Corradini, R; Sforza, S; Bianchi, N; Mischiati, C; Marchelli, R; Gambari, R
      Peptide nucleic acids and biosensor technology for real-time detection of the cystic fibrosis W1282X mutation by surface plasmon resonance

      LABORATORY INVESTIGATION
    19. Castellani, C; Benetazzo, MG; Tamanini, A; Begnini, A; Mastella, G; Pignatti, P
      Analysis of the entire coding region of the cystic fibrosis transmembrane regulator gene in neonatal hypertrypsinaemia with normal sweat test

      JOURNAL OF MEDICAL GENETICS
    20. Onay, T; Zielenski, J; Topaloglu, O; Gokgoz, N; Kayserili, H; Apak, MY; Camcioglu, Y; Cokugras, H; Akcakaya, N; Tsui, LC; Kirdar, B
      Cystic fibrosis mutations and associated haplotypes in Turkish cystic fibrosis patients

      HUMAN BIOLOGY
    21. Wiuf, C
      Do Delta F508 heterozygotes have a selective advantage?

      GENETICAL RESEARCH
    22. Noone, PG; Zhou, ZQ; Silverman, LM; Jowell, PS; Knowles, MR; Cohn, JA
      Cystic fibrosis gene mutations and pancreatitis risk: Relation to epithelial ion transport and trypsin inhibitor gene mutations

      GASTROENTEROLOGY
    23. Flotte, TR; Laube, BL
      Gene therapy in cystic fibrosis

      CHEST
    24. Marchand, E; Verellen-Dumoulin, C; Mairesse, M; Delaunois, L; Brancaleone, P; Rahier, JF; Vandenplas, O
      Frequency of cystic fibrosis transmembrane conductance regulator gene mutations and 5T allele in patients with allergic bronchopulmonary aspergillosis

      CHEST
    25. Goldman, A; Labrum, R; Claustres, M; Desgeorges, M; Guittard, C; Wallace, A; Ramsay, M
      The molecular basis of cystic fibrosis in South Africa

      CLINICAL GENETICS
    26. Larriba, S; Bassas, L; Egozcue, S; Gimenez, J; Ramos, MD; Briceno, O; Estivill, X; Casals, T
      Adenosine triphosphate-binding cassette superfamily transporter gene expression in severe male infertility

      BIOLOGY OF REPRODUCTION
    27. Kitson, C; Alton, E
      Gene therapy for cystic fibrosis

      EXPERT OPINION ON INVESTIGATIONAL DRUGS
    28. Stoerker, J; Mayo, JD; Tetzlaff, CN; Sarracino, DA; Schwope, I; Richert, C
      Rapid genotyping by MALDI-monitored nuclease selection from probe libraries

      NATURE BIOTECHNOLOGY
    29. Pasteur, MC; Helliwell, SM; Houghton, S; Webb, SC; Foweraker, JE; Coulden, RA; Flower, CD; Bilton, D; Keogan, MT
      An investigation into causative factors in patients with bronchiectasis

      AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
    30. Crombleholme, TM
      Adenoviral-mediated gene transfer in wound healing

      WOUND REPAIR AND REGENERATION
    31. Widdicombe, JH
      Yet another role for the cystic fibrosis transmembrane conductance regulator

      AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY
    32. Brigham, KL; Lane, KB; Meyrick, B; Stecenko, AA; Strack, S; Cannon, DR; Caudill, M; Canonico, AE
      Transfection of nasal mucosa with a normal alpha(1)-antitrypsin gene in alpha(1)-antitrypsin-deficient subjects: Comparison with protein therapy

      HUMAN GENE THERAPY
    33. Bombieri, C; Luisetti, M; Belpinati, F; Zuliani, E; Beretta, A; Baccheschi, J; Casali, L; Pignatti, PF
      Increased frequency of CFTR gene mutations in sarcoidosis: a case/control association study

      EUROPEAN JOURNAL OF HUMAN GENETICS
    34. Dequeker, E; Cuppens, H; Dodge, J; Estivill, X; Goossens, M; Pignatti, PF; Scheffer, H; Schwartz, M; Schwarz, M; Tummler, B; Cassiman, JJ
      Recommendations for quality improvement in genetic testing for cystic fibrosis European Concerted Action on Cystic Fibrosis

      EUROPEAN JOURNAL OF HUMAN GENETICS
    35. Chinet, T; Fajac, I; Ferec, C; Carmona, TG; Nguyen-Khoa, T
      Diagnosis of cystic fibrosis in adults

      REVUE DES MALADIES RESPIRATOIRES
    36. Quinzii, C; Castellani, C
      The cystic fibrosis transmembrane regulator gene and male infertility

      JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
    37. Bombieri, C; Giorgi, S; Carles, S; de Cid, R; Belpinati, F; Tandoi, C; Pallares-Ruiz, N; Lazaro, C; Ciminelli, BM; Romey, MC; Casals, T; Pompei, F; Gandini, G; Claustres, M; Estivill, X; Pignatti, PF; Modiano, G
      A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals

      HUMAN GENETICS
    38. Stuhrmann, M; Graf, N; Dork, T; Schmidtke, J
      Mutation screening for prenatal and presymptomatic diagnosis: cystic fibrosis and haemochromatosis

      EUROPEAN JOURNAL OF PEDIATRICS
    39. Kerr, A
      (Re)constructing genetic disease: The clinical continuum between cystic fibrosis and male infertility

      SOCIAL STUDIES OF SCIENCE
    40. Thelwell, N; Millington, S; Solinas, A; Booth, J; Brown, T
      Mode of action and application of Scorpion primers to mutation detection

      NUCLEIC ACIDS RESEARCH
    41. Meschede, D; Lemcke, B; Behre, HM; De Geyter, C; Nieschlag, E; Horst, J
      Clustering of male infertility in the families of couples treated with intracytoplasmic sperm injection

      HUMAN REPRODUCTION
    42. Mak, V; Zielenski, J; Tsui, LC; Durie, P; Zini, A; Martin, S; Longley, TB; Jarvi, KA
      Cystic fibrosis gene mutations and infertile men with primary testicular failure

      HUMAN REPRODUCTION
    43. Kostuch, M; Semczuk, A; Szarewicz-Adamczyk, W; Gasowska-Giszczak, U; Wojcierowski, J; Kulczycki, L
      Detection of CFTR gene mutations in patients suffering from chronic bronchitis

      ARCHIVES OF MEDICAL RESEARCH
    44. Kimura, S; Okabayashi, Y; Inushima, K; Yutsudo, Y; Kasuga, M
      Polymorphism of cystic fibrosis gene in Japanese patients with chronic pancreatitis

      DIGESTIVE DISEASES AND SCIENCES
    45. Monaghan, KG; Feldman, GL; Barbarotto, GM; Manji, S; Desai, TK; Snow, K
      Frequency and clinical significance of the S1235R mutation in the cystic fibrosis transmembrane conductance regulator gene: Results from a collaborative study

      AMERICAN JOURNAL OF MEDICAL GENETICS
    46. Kabra, M; Kabra, SK; Ghosh, M; Khanna, A; Arora, S; Menon, PSN; Verma, IC; Wallace, A
      Is the spectrum of mutations in Indian patients with cystic fibrosis different?

      AMERICAN JOURNAL OF MEDICAL GENETICS
    47. Wang, XJ; Moylan, B; Leopold, DA; Kim, J; Rubenstein, RC; Togias, A; Proud, D; Zeitlin, PL; Cutting, GR
      Mutation in the gene responsible for cystic fibrosis and predisposition tochronic rhinosinusitis in the general population

      JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
    48. Cusi, MG; Zurbriggen, R; Valassina, M; Bianchi, S; Durrer, P; Valensin, PE; Donati, M; Gluck, R
      Intranasal immunization with mumps virus DNA vaccine delivered by influenza virosomes elicits mucosal and systemic immunity

      VIROLOGY
    49. Ravnik-Glavac, M; Dean, M; di Sant'Agnese, P; Chernick, M; Kozelj, M; Krizman, I; Glavac, D
      Evidence that hereditary pancreatitis is genetically heterogeneous disorder

      PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY
    50. Ravnik-Glavac, M; Dean, M; Glavac, D
      Study of mutant and polyvariant mutant CFTR genes in patients with congenital absence of the vas deferens

      PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY
    51. Ellsworth, RE; Jamison, DC; Touchman, JW; Chissoe, SL; Maduro, VVB; Bouffard, GG; Dietrich, NL; Beckstrom-Sternberg, SM; Iyer, LM; Weintraub, LA; Cotton, M; Courtney, L; Edwards, J; Maupin, R; Ozersky, P; Rohlfing, T; Wohldmann, P; Miner, T; Kemp, K; Kramer, J; Korf, I; Pepin, K; Antonacci-Fulton, L; Fulton, RS; Minx, P; Hillier, LW; Wilson, RK; Waterston, RH; Miller, W; Green, ED
      Comparative genomic sequence analysis of the human and mouse cystic fibrosis transmembrane conductance regulator genes

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    52. Zielenski, J
      Genotype and phenotype in cystic fibrosis

      RESPIRATION
    53. Mickle, JE; Cutting, GR
      Genotype-phenotype relationships in cystic fibrosis

      MEDICAL CLINICS OF NORTH AMERICA
    54. Cohn, JA; Bornstein, JD; Jowell, PS
      Cystic fibrosis mutations and genetic predisposition to idiopathic chronicpancreatitis

      MEDICAL CLINICS OF NORTH AMERICA
    55. Chirmule, N; Raper, SE; Burkly, L; Thomas, D; Tazelaar, J; Hughes, JV; Wilson, JM
      Readministration of adenovirus vector in nonhuman primate lungs by blockade of CD40-CD40 ligand interactions

      JOURNAL OF VIROLOGY
    56. Li, B; Li, S; Tan, YD; Stolz, DB; Watkins, SC; Block, LH; Huang, L
      Lyophilization of cationic lipid-protamine-DNA (LPD) complexes

      JOURNAL OF PHARMACEUTICAL SCIENCES
    57. Massie, RJ; Wilcken, B; Van Asperen, P; Dorney, S; Gruca, M; Wiley, V; Gaskin, K
      Pancreatic function and extended mutation analysis in Delta F508 heterozygous infants with an elevated immunoreactive trypsinogen but normal sweat electrolyte levels

      JOURNAL OF PEDIATRICS
    58. Kilinc, MO; Ninis, VN; Tolun, A; Estivill, X; Casals, T; Savov, A; Dagli, E; Karakoc, F; Demirkol, M; Huner, G; Ozkinay, F; Demir, E; Seculi, JL; Pena, J; Bousono, C; Ferrer-Calvete, J; Calvo, C; Glover, G; Kremenski, I
      Genotype-phenotype correlation in three homozygotes and nine compound heterozygotes for the cystic fibrosis mutation 2183AA -> G shows a severe phenotype

      JOURNAL OF MEDICAL GENETICS
    59. Romey, MC; Pallares-Ruiz, N; Mange, A; Mettling, C; Peytavi, R; Demaille, J; Claustres, M
      A naturally occurring sequence variation that creates a YY1 element is associated with increased cystic fibrosis transmembrane conductance regulator gene expression

      JOURNAL OF BIOLOGICAL CHEMISTRY
    60. Daudin, M; Bieth, E; Bujan, L; Massat, G; Pontonnier, F; Mieusset, R
      Congenital bilateral absence of the vas deferens: clinical characteristics, biological parameters, cystic fibrosis transmembrane conductance regulator gene mutations, and implications for genetic counseling

      FERTILITY AND STERILITY
    61. Patuzzo, C; Gile, LS; Zorzetto, M; Trabetti, E; Malerba, G; Pignatti, PF; Luisetti, M
      Tumor necrosis factor gene complex in COPD and disseminated bronchiectasis

      CHEST
    62. Castaldo, G; Martinelli, P; Massa, C; Fuccio, A; Grosso, M; Rippa, E; Paladini, D; Salvatore, F
      Prenatal diagnosis of cystic fibrosis: a case of twin pregnancy diagnosis and a review of 5 years' experience

      CLINICA CHIMICA ACTA
    63. Lira, MG; Benetazzo, MG; Marzari, MG; Bombieri, C; Belpinati, F; Castellani, C; Cavallini, GC; Mastella, G; Pignatti, PF
      High frequency of cystic fibrosis transmembrane regulator mutation L997F in patients with recurrent idiopathic pancreatitis and in newborns with hypertrypsinemia

      AMERICAN JOURNAL OF HUMAN GENETICS
    64. Mickle, JE; Milewski, MI; Macek, M; Cutting, GR
      Effects of cystic fibrosis and congenital bilateral absence of the vas deferens-associated mutations on cystic fibrosis transmembrane conductance regulator-mediated regulation of separate channels

      AMERICAN JOURNAL OF HUMAN GENETICS
    65. Guilloud-Bataille, M; De Crozes, D; Rault, G; Degioanni, A; Feingold, J
      Cystic fibrosis mutations: Report from the French registry

      HUMAN HEREDITY
    66. Boucher, D; Creveaux, I; Grizard, G; Jimenez, C; Hermabessiere, J; Dastugue, B
      Screening for cystic fibrosis transmembrane conductance regulator gene mutations in men included in an intracytoplasmic sperm injection programme

      MOLECULAR HUMAN REPRODUCTION
    67. Lissens, W; Mahmoud, KZ; El-Gindi, E; Abdel-Sattar, A; Seneca, S; Van Steirteghem, A; Liebaers, I
      Molecular analysis of the cystic fibrosis gene reveals a high frequency ofthe intron 8 splice variant 5T in Egyptian males with congenital bilateralabsence of the vas deferens

      MOLECULAR HUMAN REPRODUCTION
    68. Jorissen, MB; de Boeck, K; Cuppens, H
      Genotype-phenotype correlations for the paranasal sinuses in cystic fibrosis

      AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
    69. Lazaro, C; de Cid, R; Sunyer, J; Soriano, J; Gimenez, J; Alvarez, M; Casals, T; Anto, JM; Estivill, X
      Missense mutations in the cystic fibrosis gene in adult patients with asthma

      HUMAN MUTATION
    70. Feriotto, G; Lucci, M; Bianchi, N; Mischiati, C; Gambari, R
      Detection of the Delta F508 (F508del) mutation of the cystic fibrosis geneby surface plasmon resonance and biosensor technology

      HUMAN MUTATION
    71. Ambrose, HJ; Chambers, SM; Mieli-Vergani, G; Ferrie, R; Newton, CR; Robertson, NH
      Molecular characterization of a new alpha-1-antitrypsin M variant allele, M-whitstable: Implications for DNA-based diagnosis

      DIAGNOSTIC MOLECULAR PATHOLOGY
    72. Bucholtz, GA; Ejercito, VS; Burmester, JK
      The cystic fibrosis conductance regulator gene exon sequence is normal in a patient with edematous eosinophilic nasal polyps

      AMERICAN JOURNAL OF RHINOLOGY
    73. Brann, T; Kayda, D; Lyons, RM; Shirley, P; Roy, S; Kaleko, M; Smith, T
      Adenoviral vector-mediated expression of physiologic levels of human factor VIII in nonhuman primates

      HUMAN GENE THERAPY
    74. Liechti-Gallati, S; Schneider, V; Neeser, D; Kraemer, R
      Two buffer PAGE system-based SSCP/HD analysis: a general protocol for rapid and sensitive mutation screening in cystic fibrosis and any other human genetic disease

      EUROPEAN JOURNAL OF HUMAN GENETICS
    75. Gasparini, P; Arbustini, E; Restagno, G; Zelante, L; Stanziale, P; Gatta, L; Sbaiz, L; Sedita, AM; Banchieri, N; Sapone, L; Fiorucci, GC; Brinson, E; Shulse, E; Rappaport, E; Fortina, P
      Analysis of 31 CFTR mutations by polymerase chain reaction oligonucleotideligation assay in a pilot screening of 4476 newborns for cystic fibrosis

      JOURNAL OF MEDICAL SCREENING
    76. Castellani, C; Bonizzato, A; Pradal, U; Filicori, M; Foresta, C; La Sala, GB; Mastella, G
      Evidence of mild respiratory disease in men with congenital absence of thevas deferens

      RESPIRATORY MEDICINE
    77. O'Connell, AC; Baccaglini, L; Fox, PC; O'Connell, BC; Kenshalo, D; Oweisy, H; Hoque, ATMS; Sun, D; Herscher, LL; Braddon, VR; Delporte, C; Baum, BJ
      Safety and efficacy of adenovirus-mediated transfer of the human aquaporin-1 cDNA to irradiated parotid glands of non-human primates

      CANCER GENE THERAPY
    78. Danner, I; Boisseau, P; Chailleux, E; Escande, D
      Respiratory epithelial ion transport in patients with disseminated bronchiectasis

      EUROPEAN RESPIRATORY JOURNAL
    79. Wagner, JA; Vassilakis, A; Yee, K; Li, M; Hurlock, G; Krouse, ME; Moss, RB; Wine, JJ
      Two novel mutations in a cystic fibrosis patient of Chinese origin

      HUMAN GENETICS
    80. Eggesbo, HB; Eken, T; Eiklid, K; Kolmannskog, F
      Hypoplasia of the sphenoid sinuses as a diagnostic tool in cystic fibrosis

      ACTA RADIOLOGICA
    81. Banjar, H; Kambouris, M; Meyer, BF; Al-Mehaidib, A; Mogarri, I
      Geographic distribution of cystic fibrosis transmembrane regulator gene mutations in Saudi Arabia

      ANNALS OF TROPICAL PAEDIATRICS
    82. Dohle, GR; Veeze, HJ; Overbeek, SE; van den Ouweland, AMW; Halley, DJJ; Weber, RFA; Niermeijer, MF
      The complex relationships between cystic fibrosis and congenital bilateralabsence of the vas deferens: clinical, electrophysiological and genetic data

      HUMAN REPRODUCTION
    83. Pallares-Ruiz, N; Carles, S; Des Georges, M; Guittard, C; Arnal, F; Humeau, C; Claustres, M
      Complete mutational screening of the cystic fibrosis transmembrane conductance regulator gene: cystic fibrosis mutations are not involved in healthy men with seduced sperm quality

      HUMAN REPRODUCTION
    84. Weiss, DJ; Strandjord, TP; Jackson, JC; Clark, JG; Liggitt, D
      Perfluorochemical liquid-enhanced adenoviral vector distribution and expression in lungs of spontaneously breathing rodents

      EXPERIMENTAL LUNG RESEARCH
    85. Haber, PS; Norris, MD; Apte, MV; Rodgers, SC; Norton, ID; Pirola, RC; Roberts-Thomson, IC; Wilson, JS
      Alcoholic pancreatitis and polymorphisms of the variable length polythymidine tract in the cystic fibrosis gene

      ALCOHOLISM-CLINICAL AND EXPERIMENTAL RESEARCH
    86. Mak, V; Zielenski, J; Tsui, LC; Durie, P; Zini, A; Martin, S; Longley, TB; Jarvi, KA
      Proportion of cystic fibrosis gene mutations not detected by routine testing in men with obstructive azoospermia

      JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
    87. Seki, K; Abo, W; Yamamoto, Y; Matsuura, A
      Identification of novel mutations of the CFTR gene in a Japanese patient with cystic fibrosis

      TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE
    88. Sharer, NM; Schwartz, MJ
      Mutations of the cystic fibrosis gene in patients with chronic pancreatitis (vol 339, pg 645, 1998)

      NEW ENGLAND JOURNAL OF MEDICINE
    89. Okada, H; Yoshimura, K; Fujioka, H; Tatsumi, N; Gotoh, A; Fujisawa, M; Gohji, K; Arakawa, S; Kato, H; Kobayashi, SI; Isojima, S; Koshida, M; Kamidono, S
      Assisted reproduction technology for patients with congenital bilateral absence of vas deferens

      JOURNAL OF UROLOGY
    90. Chirmule, N; Truneh, A; Haecker, SE; Tazelaar, J; Gao, GP; Raper, SE; Hughes, JV; Wilson, JM
      Repeated administration of adenoviral vectors in lungs of human CD4 transgenic mice treated with a nondepleting CD4 antibody

      JOURNAL OF IMMUNOLOGY
    91. Xiang, ZQ; Pasquini, S; Ertl, HCJ
      Induction of genital immunity by DNA priming and intranasal booster immunization with a replication-defective adenoviral recombinant

      JOURNAL OF IMMUNOLOGY
    92. Oddoux, C; Guillen-Navarro, E; Ditivoli, C; Dicave, E; Cilio, MR; Clayton, CM; Nelson, H; Sarafoglou, K; McCain, N; Peretz, H; Seligsohn, U; Luzzatto, L; Nafa, K; Nardi, M; Karpatkin, M; Aksentijevich, I; Kastner, D; Axelrod, F; Ostrer, H
      Commentary - Mendelian diseases among Roman Jews: Implications for the origins of disease alleles

      JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
    93. Stuhrmann, M; von der Hardt, H; Fabel, H
      Cystic fibrosis - Also a disease in adults

      INTERNIST
    94. Parad, RB; Gerard, CJ; Zurakowski, D; Nichols, DP; Pier, GB
      Pulmonary outcome in cystic fibrosis is influenced primarily by mucoid Pseudomonas aeruginosa infection and immune status and only modestly by genotype

      INFECTION AND IMMUNITY
    95. Raskin, S; Phillips, JA; Kaplan, G; McClure, M; Vnencak-Jones, C; Rozov, T; Cardieri, JM; Marostica, P; Abreu, F; Giugliani, R; Reis, F; Rosario, NA; Ludwig, N; Pereira, L; Faucz, F; Gabardo, J; Culpi, L
      Geographic heterogeneity of 4 common worldwide cystic fibrosis non-DF508 mutations in Brazil

      HUMAN BIOLOGY
    96. Mason, AC; Nakielna, BEM
      Newly diagnosed cystic fibrosis in adults: Pattern and distribution of bronchiectasis in 12 cases

      CLINICAL RADIOLOGY
    97. Arduino, C; Gallo, M; Brusco, A; Garnerone, S; Piana, MR; Di Maggio, S; Promis, GG; Ferrone, M; Angeli, A; Gaia, E
      Polyvariant mutant CFTR genes in patients with chronic pancreatitis

      CLINICAL GENETICS
    98. Schaedel, C; Hjelte, L; de Monestrol, I; Johannesson, M; Kollberg, H; Kornfalt, R; Holmberg, L
      Three common CFTR mutations should be included in a neonatal screening programme for cystic fibrosis in Sweden

      CLINICAL GENETICS
    99. Friedman, KJ; Silverman, LM
      Cystic fibrosis syndrome: A new paradigm for inherited disorders and implications for molecular diagnostics

      CLINICAL CHEMISTRY
    100. Castaldo, G; Fuccio, A; Cazeneuve, C; Picci, L; Salvatore, D; Raia, V; Scarpa, M; Goossens, M; Salvatore, F
      Detection of five rare cystic fibrosis mutations peculiar to southern Italy: Implications in screening for the disease and phenotype characterizationfor patients with homozygote mutations

      CLINICAL CHEMISTRY


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Documento generato il 13/08/20 alle ore 05:38:35