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La ricerca find articoli where soggetti phrase all words 'CFTR MUTATIONS' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 48 riferimenti
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    1. 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
    2. Sedlacek, RL; Carlin, RW; Singh, AK; Schultz, BD
      Neurotransmitter-stimulated ion transport by cultured porcine vas deferensepithelium

      AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY
    3. Wahab, AA; Al Thani, G; Dawod, ST; Kambouris, M; Al Hamed, M
      Heterogeneity of the cystic fibrosis phenotype in a large kindred family in qatar with cystic fibrosis mutation (I1234V)

      JOURNAL OF TROPICAL PEDIATRICS
    4. Amaral, MD; Pacheco, P; Beck, S; Farinha, CM; Penque, D; Nogueira, P; Barreto, C; Lopes, B; Casals, T; Dapena, J; Gartner, S; Vasquez, C; Perez-Frias, J; Olveira, C; Cabanas, R; Estivill, X; Tzetis, M; Kanavakis, E; Doudounakis, S; Dork, T; Tummler, B; Girodon-Boulandet, E; Cazeneuve, C; Goossens, M; Blayau, M; Verlingue, C; Vieira, I; Ferec, C; Claustres, M; des Georges, M; Clavel, C; Birembaut, P; Hubert, D; Bienvenu, T; Adoun, M; Chomel, JC; De Boeck, K; Cuppens, H; Lavinha, J
      Cystic fibrosis patients with the 3272-26A > G splicing mutation have milder disease than F508del homozygotes: a large European study

      JOURNAL OF MEDICAL GENETICS
    5. 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
    6. Scotet, V; De Braekeleer, M; Audrezet, MP; Lode, L; Verlingue, C; Quere, I; Mercier, B; Dugueperoux, I; Codet, JP; Moineau, MP; Parent, P; Ferec, C
      Prevalence of CFTR mutations in hypertrypsinaemia detected through neonatal screening for cystic fibrosis

      CLINICAL GENETICS
    7. Bhasin, S; Mallidis, C; Ma, K
      The genetic basis of infertility in men

      BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM
    8. Shrimpton, AE
      R117H and IVS8-5T cystic fibrosis mutation detection by restriction enzymedigestion

      MOLECULAR DIAGNOSIS
    9. 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
    10. 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
    11. Kambouris, M; Banjar, H; Moggari, I; Nazer, H; Al-Hamed, M; Meyer, BF
      Identification of novel mutations in Arabs with cystic fibrosis and their impact on the cystic fibrosis transmembrane regulator mutation detection rate in Arab populations

      EUROPEAN JOURNAL OF PEDIATRICS
    12. 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
    13. 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
    14. Dawson, KP; Frossard, PM
      Cystic fibrosis in the Middle East: The historical perspective

      ANNALS OF SAUDI MEDICINE
    15. 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
    16. 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
    17. Zielenski, J
      Genotype and phenotype in cystic fibrosis

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

      MEDICAL CLINICS OF NORTH AMERICA
    19. Massie, J; du Sart, D; Forshaw, K; Carlin, J; Forrest, SM
      The relationship between neonatal immunoreactive trypsinogen, Delta F508, and IVS8-5T

      JOURNAL OF MEDICAL GENETICS
    20. Ockenga, J; Stuhrmann, M; Ballmann, M; Teich, N; Keim, V; Dork, T; Manns, MP
      Mutations of the cystic fibrosis gene, but not cationic trypsinogen gene, are associated with recurrent or chronic idiopathic pancreatitis

      AMERICAN JOURNAL OF GASTROENTEROLOGY
    21. 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
    22. 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
    23. Stuhrmann, M; von der Hardt, H; Fabel, H
      Cystic fibrosis - Also a disease in adults

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

      CLINICAL RADIOLOGY
    25. PHILLIPSON G
      CYSTIC-FIBROSIS AND REPRODUCTION

      Reproduction, fertility and development
    26. CHIBAFALEK O; NISSIMRAFINIA M; ARGAMAN Z; GENEM A; MORAN I; KEREM E; KEREM B
      SCREENING OF CFTR MUTATIONS IN AN ISOLATED POPULATION - IDENTIFICATION OF CARRIERS AND PATIENTS

      European journal of human genetics
    27. VERLINGUE C; VUILLAUMIER S; MERCIER B; LEGAC G; ELION J; FEREC C; DENAMUR E
      ABSENCE OF MUTATIONS IN THE INTERSPECIES CONSERVED REGIONS OF THE CFTR PROMOTER REGION IN CYSTIC-FIBROSIS (CF) AND CF RELATED PATIENTS

      Journal of Medical Genetics
    28. TUERLINGS JHAM; MOL B; KREMER JAM; LOOMAN M; MEULEMAN EJH; MEERMAN GJT; BUYS CHCM; MERKUS HMWM; SCHEFFER H
      MUTATION FREQUENCY OF CYSTIC-FIBROSIS TRANSMEMBRANE REGULATOR IS NOT INCREASED IN OLIGOZOOSPERMIC MALE CANDIDATES FOR INTRACYTOPLASMIC SPERM INJECTION

      Fertility and sterility
    29. DEBRAEKELEER M; MARI C; VERLINGUE C; ALLARD C; LEBLANC JP; SIMARD F; AUBIN G; FEREC C
      COMPLETE IDENTIFICATION OF CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR MUTATIONS IN THE CF POPULATION OF SAGUENAY LAC-SAINT-JEAN (QUEBEC, CANADA)

      Clinical genetics
    30. DORK T; ELHARITH EHA; STUHRMANN M; MACEK M; EGAN M; CUTTING GR; TZETIS M; KANAVAKIS E; CARLES S; CLAUSTRES M; PADOA C; RAMSAY M; SCHMIDTKE J
      EVIDENCE FOR A COMMON ETHNIC-ORIGIN OF CYSTIC-FIBROSIS MUTATION 3120-]A IN DIVERSE POPULATIONS(1G)

      American journal of human genetics
    31. GIRODON E; CAZENEUVE C; LEBARGY F; CHINET T; COSTES B; GHANEM N; MARTIN J; LEMAY S; SCHEID P; HOUSSET B; BIGNON J; GOOSSENS M
      CFTR GENE-MUTATIONS IN ADULTS WITH DISSEMINATED BRONCHIECTASIS

      European journal of human genetics
    32. DEBRAEKELEER M; ALLARD C; LEBLANC JP; SIMARD F; AUBIN G
      GENOTYPE-PHENOTYPE CORRELATION IN CYSTIC-FIBROSIS PATIENTS COMPOUND HETEROZYGOUS FOR THE A455E MUTATION

      Human genetics
    33. VILLALOBOSTORRES C; ROJASMARTINEZ A; VILLAREALCASTELLANOS E; CANTU JM; SANCHEZANZALDO FJ; SAIKI RK; BARRERASALDANA HA
      ANALYSIS OF 16 CYSTIC-FIBROSIS MUTATIONS IN MEXICAN PATIENTS

      American journal of medical genetics
    34. DEBRAEKELEER M; ALLARD C; LEBLANC JP; SIMARD F; AUBIN G
      GENOTYPE-PHENOTYPE CORRELATION IN 5 CYSTIC-FIBROSIS PATIENTS HOMOZYGOUS FOR THE 621-]T MUTATION(1G)

      Journal of Medical Genetics
    35. CHERTKOFF L; VISICH A; BIENVENU T; GRENOVILLE M; SEGAL E; CARNIGLIA L; KAPLAN JC; BARREIRO C
      SPECTRUM OF CFTR MUTATIONS IN ARGENTINE CYSTIC-FIBROSIS PATIENTS

      Clinical genetics
    36. DEBRAEKELEER M; MARI C; VERLINGUE C; ALLARD C; LEBLANC JP; SIMARD F; AUBIN G; FEREC C
      CLINICAL-FEATURES OF CYSTIC-FIBROSIS PATIENTS WITH RARE GENOTYPES IN SAGUENAY LAC-SAINT-JEAN (QUEBEC, CANADA)

      Annales de genetique
    37. DELTAS CC; BOTEVA K; GEORGIOU A; PAPAGEORGIOU E; GEORGIOU C
      DESCRIPTION OF A SYMPTOMLESS CYSTIC-FIBROSIS L346P M348K COMPOUND HETEROZYGOUS CYPRIOT INDIVIDUAL/

      Molecular and cellular probes
    38. VANDERVEN K; MESSER L; VANDERVEN H; JEYENDRAN RS; OBER C
      CYSTIC-FIBROSIS MUTATION SCREENING IN HEALTHY-MEN WITH REDUCED SPERM QUALITY

      Human reproduction
    39. CARLES S; DESGEORGES M; GOLDMAN A; THIART R; GUITTARD C; KITAZOS CA; DERAVEL TJL; WESTWOOD ATR; CLAUSTRES M; RAMSEY M
      FIRST REPORT OF CFTR MUTATIONS IN BLACK CYSTIC-FIBROSIS PATIENTS OF SOUTHERN AFRICAN ORIGIN

      Journal of Medical Genetics
    40. TEBBUTT SJ; HARRIS A; HILL DF
      AN OVINE CFTR VARIANT AS A PUTATIVE CYSTIC-FIBROSIS CAUSING MUTATION

      Journal of Medical Genetics
    41. VAZQUEZ C; ANTINOLO G; CASALS T; DAPENA J; ELORZ J; SECULI JL; SIRVENT J; CABANAS R; SOLER C; ESTIVILL X
      13 CYSTIC-FIBROSIS PATIENTS, 12 COMPOUND HETEROZYGOUS AND ONE HOMOZYGOUS FOR THE MISSENSE MUTATION G85E - A PANCREATIC SUFFICIENCY INSUFFICIENCY MUTATION WITH VARIABLE CLINICAL PRESENTATION

      Journal of Medical Genetics
    42. COLIN AA; SAWYER SM; MICKLE JE; OATES RD; MILUNSKY A; AMOS JA
      PULMONARY-FUNCTION AND CLINICAL OBSERVATIONS IN MEN WITH CONGENITAL BILATERAL ABSENCE OF THE VAS-DEFERENS

      Chest
    43. MAQUAT LE
      DEFECTS IN RNA SPLICING AND THE CONSEQUENCE OF SHORTENED TRANSLATIONAL READING FRAMES

      American journal of human genetics
    44. DORVAL I; JEZEQUEL P; CHAUVEL B; DUBOURG C; FERGELOT P; LEGALL JY; ROUSSEY M; BLAYAU M
      FRENCH CF FAMILY GENOTYPE ANALYSIS SHOWS THAT THE R297Q MUTATION IS ARARE POLYMORPHISM

      Human mutation
    45. COSTES B; GIRODON E; GHANEM N; FLORI E; JARDIN A; SOUFIR JC; GOOSSENS M
      FREQUENT OCCURRENCE OF THE CFTR INTRON-8 (TG)(N) 5T ALLELE IN MEN WITH CONGENITAL BILATERAL ABSENCE OF THE VAS-DEFERENS

      European journal of human genetics
    46. ROZEN R; FERREIRARAJABI L; ROBB L; COLMAN N
      L206W MUTATION OF THE CYSTIC-FIBROSIS GENE, RELATIVELY FREQUENT IN FRENCH-CANADIANS, IS ASSOCIATED WITH ATYPICAL PRESENTATIONS OF CYSTIC-FIBROSIS

      American journal of medical genetics
    47. GAN KH; VEEZE HJ; VANDENOUWELAND AMW; HALLEY DJJ; SCHEFFER H; VANDERHOUT A; OVERBEEK SE; DEJONGSTE JC; BAKKER W; HEIJERMAN HGM
      A CYSTIC-FIBROSIS MUTATION ASSOCIATED WITH MILD LUNG-DISEASE

      The New England journal of medicine
    48. BORREGO S; CASALS T; DAPENA J; FERNANDEZ E; GIMENEZ J; CABEZA JC; SANCHEZ J; ANTINOLO G
      MOLECULAR AND CLINICAL ANALYSES OF CYSTIC-FIBROSIS IN THE SOUTH OF SPAIN

      Clinical genetics


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Documento generato il 20/10/20 alle ore 00:18:34