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    1. Venanzi, S; Malerba, G; Galavotti, R; Lauciello, MC; Trabetti, E; Zanoni, G; Pescollderungg, L; Martinati, LC; Boner, AL; Pignatti, PF
      Linkage to atopy on chromosome 19 in north-eastern Italian families with allergic asthma

      CLINICAL AND EXPERIMENTAL ALLERGY
    2. Gomez-Lira, M; Mottes, M; Perusi, C; Pignatti, PF; Rizzuto, N; Gatti, R; Salviati, A
      A novel 4-bp deletion creates a premature stop codon and dramatically decreases HEXB mRNA levels in a severe case of Sandhoff disease

      MOLECULAR AND CELLULAR PROBES
    3. Quinzii, C; Belpinati, F; Pignatti, PF
      Predictive genetic testing - New possibilities in determination of risk ofcomplex diseases

      CROATIAN MEDICAL JOURNAL
    4. Olivieri, O; Stranieri, C; Girelli, D; Pizzolo, F; Grazioli, S; Russo, C; Pignatti, PF; Corrocher, R
      Homozygosity for angiotensinogen 235T variant increases the risk of myocardial infarction in patients with multi-vessel coronary artery disease

      JOURNAL OF HYPERTENSION
    5. Malerba, G; Patuzzo, C; Trabetti, E; Lauciello, MC; Galavotti, R; Pescollderungg, L; Whalen, MB; Zanoni, G; Martinati, LC; Boner, AL; Pignatti, PF
      Chromosome 14 linkage analysis and mutation study of 2 serpin genes in allergic asthmatic families

      JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
    6. Luisetti, M; Pignatti, PF
      No association of tumor necrosis factor-alpha gene polymorphism and COPD in Caucasian smokers and Japanese smokers

      CHEST
    7. Malerba, G; Lauciello, MC; Scherpbier, T; Trabetti, E; Galavotti, R; Cusin, V; Pescollderungg, L; Zanoni, G; Martinati, LC; Boner, AL; Levitt, RC; Pignatti, PF
      Linkage analysis of chromosome 12 markers in Italian families with atopic asthmatic children

      AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
    8. 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
    9. 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
    10. Mirandola, S; Pignatti, PF; Mottes, M
      Three novel polymorphic sequence variants in the type I collagen gene COL1A1, the main disease locus for Osteogenesis imperfecta

      MOLECULAR AND CELLULAR PROBES
    11. Dork, T; Macek, M; Mekus, F; Tummler, B; Tzountzouris, J; Casals, T; Krebsova, A; Koudova, M; Sakmaryova, I; Macek, M; Vavrova, V; Zemkova, D; Ginter, E; Petrova, NV; Ivaschenko, T; Baranov, V; Witt, M; Pogorzelski, A; Bal, J; Zekanowsky, C; Wagner, K; Stuhrmann, M; Bauer, I; Seydewitz, HH; Neumann, T; Jakubiczka, S; Kraus, C; Thamm, B; Nechiporenko, M; Livshits, L; Mosse, N; Tsukerman, G; Kadasi, L; Ravnik-Glavac, M; Glavac, D; Komel, R; Vouk, K; Kucinskas, V; Krumina, A; Teder, M; Kocheva, S; Efremov, GD; Onay, T; Kirdar, B; Malone, G; Schwarz, M; Zhou, ZQ; Friedman, KJ; Carles, S; Claustres, M; Bozon, D; Verlingue, C; Ferec, C; Tzetis, M; Kanavakis, E; Cuppens, H; Bombieri, C; Pignatti, PF; Sangiuolo, F; Jordanova, A; Kusic, J; Radojkovic, D; Sertic, J; Richter, D; Rukavina, AS; Bjorck, E; Strandvik, B; Cardoso, H; Montgomery, M; Nakielna, B; Hughes, D; Estivill, X; Aznarez, I; Tullis, E; Tsui, LC; Zielenski, J
      Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe

      HUMAN GENETICS
    12. 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
    13. Patuzzo, C; Trabetti, E; Malerba, G; Martinati, LC; Boner, AL; Pescollderungg, L; Zanoni, G; Pignatti, PF
      No linkage or association of the IL-4R alpha gene Q576R mutation with atopic asthma in Italian families

      JOURNAL OF MEDICAL GENETICS
    14. 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
    15. 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
    16. Mottes, M; Mirandola, S; Rigatelli, F; Zolezzi, F; Lisi, V; Gordon, D; Pignatti, PF
      Allelic frequencies of FBN1 gene polymorphisms and genetic analysis of Italian families with Marfan syndrome

      HUMAN HEREDITY
    17. Pereira, L; Raskin, S; Freund, AA; Ribas, PD; Castro, RMV; Pignatti, PF; Culpi, L
      Cystic fibrosis mutations R1162X and 2183AA -> G in two southern Brazilianstates

      GENETICS AND MOLECULAR BIOLOGY
    18. Malerba, G; Trabetti, E; Patuzzo, C; Lauciello, MC; Galavotti, R; Pescollderungg, L; Boner, AL; Pignatti, PF
      Candidate genes and a genome-wide search in Italian families with atopic asthmatic children

      CLINICAL AND EXPERIMENTAL ALLERGY
    19. Bentazzo, MG; Gile, LS; Bombieri, C; Malerba, G; Massobrio, M; Pignatti, PF; Luisetti, M
      alpha(1)-antitrypsin TAQ I polymorphism and alpha(1)-antichymotrypsin mutations in patients with obstructive pulmonary disease

      RESPIRATORY MEDICINE
    20. Perusi, C; Gomez-Lira, M; Mottes, M; Pignatti, PF; Bertini, E; Cappa, M; Vigliani, MC; Schiffer, D; Rizzuto, N; Salviati, A
      Two novel missense mutations causing adrenoleukodystrophy in Italian patients

      MOLECULAR AND CELLULAR PROBES
    21. Mirandola, S; Pignatti, PF; Mottes, M
      A novel intragenic polymorphism within the COL1A1 locus which can be detected by TaqI restriction of amplified genomic DNA

      MOLECULAR AND CELLULAR PROBES
    22. Olivieri, O; Trabetti, E; Grazioli, S; Stranieri, C; Friso, S; Girelli, D; Russo, C; Pignatti, PF; Mansueto, G; Corrocher, R
      Genetic polymorphisms of the renin-angiotensin system and atheromatous renal artery stenosis

      HYPERTENSION
    23. Gomez-Lira, M; Perusi, C; Mottes, M; Pignatti, PF; Uziel, G; Rizzuto, N; Salviati, A
      Two novel frameshift mutations in the adrenoleukodystrophy gene in Italianpatients

      JOURNAL OF THE NEUROLOGICAL SCIENCES
    24. Trabetti, E; Patuzzo, C; Malerba, G; Galavotti, R; Martinati, LC; Boner, AL; Pignatti, PF
      Association of a lymphotoxin alpha gene polymorphism and atopy in Italian families

      JOURNAL OF MEDICAL GENETICS
    25. Perusi, C; Lira, MG; Duyff, RF; Weinstein, HC; Pignatti, PF; Rizzuto, N; Salviati, A
      Mutations associated with very late-onset metachromatic leukodystrophy

      CLINICAL GENETICS
    26. Castellani, C; Benetazzo, MG; Bonizzato, A; Pignatti, PF; Mastella, G
      Cystic fibrosis mutations in heterozygous newborns with hypertrypsinemia and low sweat chloride

      AMERICAN JOURNAL OF HUMAN GENETICS
    27. HOLROYD KJ; MARTINATI LC; TRABETTI E; SCHERPBIER T; ELEFF SM; BONER AL; PIGNATTI PF; KISER MB; DRAGWA CR; HUBBARD F; SULLIVAN CD; GRASSO L; MESSLER CJ; HUANG MX; HU Y; NICOLAIDES NC; BUETOW KH; LEVITT RC
      ASTHMA AND BRONCHIAL HYPERRESPONSIVENESS LINKED TO THE XY LONG ARM PSEUDOAUTOSOMAL REGION

      Genomics (San Diego, Calif.)
    28. Pignatti, PF
      Asthma genetics

      RIVISTA ITALIANA DI PEDIATRIA-ITALIAN JOURNAL OF PEDIATRICS
    29. GOMEZLIRA M; PERUSI C; MOTTES M; PIGNATTI PF; MANFREDI M; RIZZUTO N; SALVIATI A
      MOLECULAR-GENETIC CHARACTERIZATION OF 2 METACHROMATIC LEUKODYSTROPHY PATIENTS WHO CARRY THE T799G MUTATION AND SHOW DIFFERENT PHENOTYPES - DESCRIPTION OF A NOVEL NULL-TYPE MUTATION (VOL 102, PG 459, 1998)

      Human genetics
    30. GOMEZLIRA M; PERUSI C; MOTTES M; PIGNATTI PF; MANFREDI M; RIZZUTO N; SALVIATI A
      MOLECULAR-GENETIC CHARACTERIZATION OF 2 METACHROMATIC LEUKODYSTROPHY PATIENTS WHO CARRY THE T799G MUTATION AND SHOW DIFFERENT PHENOTYPES - DESCRIPTION OF A NOVEL NULL-TYPE MUTATION

      Human genetics
    31. Bombieri, C; Benetazzo, M; Saccomani, A; Belpinati, F; Gile, LS; Luisetti, M; Pignatti, PF
      Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease

      HUMAN GENETICS
    32. GOMEZLIRA M; PERUSI C; MOTTES M; PIGNATTI PF; RIZZUTO N; GATTI R; SALVIATI A
      SPLICING MUTATION CAUSES INFANTILE SANDHOFF-DISEASE

      American journal of medical genetics
    33. TRABETTI E; CUSIN V; MALERBA G; MARTINATI LC; CASARTELLI A; BONER AL; PIGNATTI PF
      ASSOCIATION OF THE FC-EPSILON-RI-BETA GENE WITH BRONCHIAL HYPERRESPONSIVENESS IN AN ITALIAN POPULATION

      Journal of Medical Genetics
    34. DRMIC I; SCHANFIELD MS; ANDJELINOVIC S; GALAVOTTI R; GOJANOVIC MD; TRABETTI E; MARASOVIC D; PRIMORAC D; PIGNATTI PF
      ALLELE FREQUENCIES OF 6 HIGHLY POLYMORPHIC DNA LOCI IN THE CROATIAN POPULATION

      Human biology
    35. Soriani, S; Borgna-Pignatti, C; Trabetti, E; Casartelli, A; Montagna, P; Pignatti, PF
      Frequency of factor V Leiden in juvenile migraine with aura

      HEADACHE
    36. GIRELLI D; FRISO S; OLIVIERI O; RUSSO C; TRABETTI E; PESSOTTO R; FACCINI G; ZENARI ML; GRAZIOLI S; MINGUZZI D; PIGNATTI PF; MAZZUCCO A; CORROCHER R
      POST-METHIONINE IN PATIENTS WITH LOADING HYPERHOMOCYSTEINEMIA ANGIOGRAPHICALLY DOCUMENTED CORONARY-ARTERY DISEASE

      British Journal of Haematology
    37. Borgna-Pignatti, C; Solinas, A; Bombieri, C; Micciolo, R; Gamberini, MR; De Stefano, P; De Menis, E; Pignatti, PF
      The haemochromatosis mutations do not modify the clinical picture of thalassaemia major in patients regularly transfused and chelated

      BRITISH JOURNAL OF HAEMATOLOGY
    38. GIRELLI D; FRISO S; TRABETTI E; OLIVIERI O; RUSSO C; PESSOTTO R; FACCINI G; PIGNATTI PF; MAZZUCCO A; CORROCHER R
      METHYLENETETRAHYDROFOLATE REDUCTASE C677T MUTATION, PLASMA HOMOCYSTEINE, AND FOLATE IN SUBJECTS FROM NORTHERN ITALY WITH OR WITHOUT ANGIOGRAPHICALLY DOCUMENTED SEVERE CORONARY ATHEROSCLEROTIC DISEASE - EVIDENCE FOR AN IMPORTANT GENETIC-ENVIRONMENTAL INTERACTION

      Blood
    39. ESTIVILL X; BANCELLS C; RAMOS C; PIAZZA A; CARBONARA A; MASTELLA G; BONIZZATO A; CASTALDI G; DALCAMO E; FERRARI M; GASPARINI P; GUANTI G; LEONI GB; PIGNATTI PF; RONCHETTO P; SEIA M; TORRICELLI F; GOOSSENS M; CHEVALIERPORST F; BOZON D; SIMONBOUY B; FELDMANN D; ELION J; KAPLAN JC; FEREC C; CLAUSTRES M; CLAVEL C; PUCHELLE E; LUNARDI J; MATHIEU M; SCHEFFER H; HALLEY DJJ; VANDENOUWELAND AMW; TIJMENSEN ASLN; CASALS T; GIMENEZ FJ; RAMOS L; BENEYTO M; BENITEZ J; PALACIO A; TUMMLER B; BAUER I; MEITINGER T; CLAASS A; LINDNER M; SCHRODER E; STUHRMANN M; CASSIMAN J; CUPPENS H; COCHAUX P; PONCIN J; MESSIAN L; BARANOV VS; IVASCHENKO TE; BAKAY M; BAL J; WITT M; KANAVAKIS M; TZETIS M; ANTONIADI T; LAVINHA J; PACHECO P; DUARTE A; LOUREIRO P; KALAYDJIEVA L; ANGELICHEVA D; JORDANOVA A; SAVOV A; EIKLID K; HOLMBERG L; SCHAEDEL C; OZGUC M; GOCMEN A; ERDERN H; LIECHTIGALLATI S; NEMETI M; FEKETE G; KLAASSEN T; SCHWARZ M; SCHWARTZ M; MACEK M; MACEK M; KREBSOVA A; VAVROVA V; KEREM B; AVELIOVICH D; FERAK V; KADASI L; KAYSEROVA H; GLAVAC D; RAVNIKGLAVAC M; EFREMOV GD; CANKIKLEIN N; KERE J
      GEOGRAPHIC-DISTRIBUTION AND REGIONAL ORIGIN OF 272 CYSTIC-FIBROSIS INEUROPEAN POPULATIONS

      Human mutation
    40. TURCO AE; ROSSETTI S; BRESIN E; ENGLISCH S; CORRA S; PIGNATTI PF
      3 NOVEL MUTATIONS OF THE PKD1 GENE IN ITALIAN FAMILIES WITH AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE

      Human mutation
    41. OLDRIZZI L; MARCANTONI C; TURCO AE; GAMMARO L; PIGNATTI PF; MASCHIO G
      ACE GENOTYPE IN ADPKD-1 - A MARKER FOR A FASTER PROGRESSION TO END-STAGE RENAL-FAILURE (ESRF)

      Journal of the American Society of Nephrology
    42. TURCO AE; BRESIN E; SOLI F; ROSSETTI S; GAMMARO L; OLDRIZZI L; MASCHIO G; PIGNATTI PF; TESSITORE N
      MOLECULAR DNA-BASED DIAGNOSTICS IN A LARGE SERIES OF EUROPEAN FAMILIES WITH AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD) - AN UPDATE

      Journal of the American Society of Nephrology
    43. PERUSI C; GOMEZLIRA M; MOTTES M; PIGNATTI PF; RIZZUTO N; SALVIATI A
      A NOVEL MUTATION WHICH REPRESENTS THE 5TH NONPATHOGENIC POLYMORPHISM IN THE CODING SEQUENCE OF THE ARYLSULFATASE-A GENE

      Molecular and cellular probes
    44. ROSSETTI S; ENGLISCH S; BRESIN E; PIGNATTI PF; TURCO AE
      DETECTION OF MUTATIONS IN HUMAN GENES BY A NEW RAPID METHOD - CLEAVAGE FRAGMENT LENGTH POLYMORPHISM ANALYSIS (CFLPA)

      Molecular and cellular probes
    45. MARTINELLI G; TRABETTI E; FARABEGOLI P; TESTONI N; BANDINI G; MOTTA MR; VITTONE A; TERRAGNA C; PIGNATTI PF; TURA S
      EARLY DETECTION OF BONE-MARROW ENGRAFTMENT BY AMPLIFICATION OF HYPERVARIABLE DNA REGIONS

      Haematologica
    46. GIRELLI D; FRISO S; TRABETTI E; OLIVIERI O; PESSOTTO R; FACCINI G; RUSSO C; GUARINI P; MINGUZZI D; PIGNATTI PF; MAZZUCCO A; CORROCHER R
      METHYLENETETRAHYDROFOLATE REDUCTASE C677T MUTATION, PLASMA HOMOCYSTEINE AND FOLATE, IN A POPULATION OF CORONARY-ARTERY DISEASE PATIENTS FROM NORTHERN ITALY

      Thrombosis and haemostasis
    47. TURCO AE; BRESIN E; ROSSETTI S; PETERLIN B; MORANDI R; PIGNATTI PF
      RAPID DNA-BASED PRENATAL-DIAGNOSIS BY GENETIC-LINKAGE IN 3 FAMILIES WITH ALPORTS-SYNDROME

      American journal of kidney diseases
    48. ZOLEZZI F; VALLI M; CLEMENTI M; MAMMI I; CETTA G; PIGNATTI PF; MOTTES M
      MUTATION PRODUCING ALTERNATIVE SPLICING OF EXON-26 IN THE COL1A2 GENECAUSES TYPE-IV OSTEOGENESIS IMPERFECTA WITH INTRAFAMILIAL CLINICAL VARIABILITY

      American journal of medical genetics
    49. FRISO S; GIRELLI D; TRABETTI E; OLIVIERI O; RUSSO C; PESSOTTO R; FACCINI G; GUARINI P; MINGUZZI D; ZENARI ML; PIGNATTI PF; MAZZUCCO A; CORROCHER R
      METHYLENETETRAHYDROFOLATE REDUCTASE C677T MUTATION, PLASMA HOMOCYSTEINE AND FOLATE LEVELS IN ITALIAN PATIENTS WITH CORONARY-ARTERY DISEASE - EVIDENCE FOR AN IMPORTANT GENE-ENVIRONMENT INTERACTION

      Blood
    50. RENDINE S; CALAFELL F; CAPPELLO N; GAGLIARDINI R; CARAMIA G; RIGILLO N; SILVETTI M; ZANDA M; MIANO A; BATTISTINI F; MARIANELLI L; TACCETTI G; DIANA MC; ROMANO L; ROMANO C; GIUNTA A; PADOAN R; PIANAROLI A; RAIA V; DERITIS G; BATTISTINI A; GRZINCICH G; JAPICHINO L; PARDO F; ANTONELLI M; QUATTRUCCI S; LUCIDI V; CASTRO M; SANTINI B; CASTELLO M; GUANTI G; LEONI GB; CAO A; TOFFOLI C; LUCCI E; VULLO C; TORRICELLI F; SBERNINI F; ROMEO G; RONCHETTO P; SEIA M; ROSSI A; FERRARI M; CREMONESI L; SALVATORE F; CASTALDO G; DALCAMO E; MAGGIO A; SANGIUOLO F; DALLAPICCOLA B; MACERATESI P; BISCEGLIA L; GASPARINI P; CARBONARA A; BONIZZATO A; CABRINI G; BOMBIERI C; PIGNATTI PF; BORGO G; CASTELLANI C; VILLANI A; ARDUINO C; SALVATORE D; MASTELLA G; PIAZZA A
      GENETIC HISTORY OF CYSTIC-FIBROSIS MUTATIONS IN ITALY - I - REGIONAL DISTRIBUTION

      Annals of Human Genetics
    51. TURCO AE; BRESIN E; SOLI F; ROSSETTI S; GAMMARO L; MASCHIO G; PIGNATTI PF
      GENETIC-COUNSELING, DNA-BASED INVESTIGATIONS AND PRESYMPTOMATIC MOLECULAR DIAGNOSIS IN FAMILIES WITH AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD) AND ALPORT-SYNDROME (AS) - AN UPDATE FROM THE EXPERIENCE IN VERONA, ITALY

      American journal of human genetics
    52. MOTTES M; RIGATELLI F; LISI V; BRAGA V; ADAMI S; PIGNATTI PF
      ALLELIC VARIANTS OF HUMAN CALCITONIN RECEPTOR GENE (CALCR) IN THE ITALIAN POPULATION AND IN OSTEOPOROTIC PATIENTS

      American journal of human genetics
    53. PIGNATTI PF; TRABETTI E; CUSIN V; MALERBA G; MARTINATI LC; CASARTELLI A; BONER AL
      ASSOCIATION OF THE FC-EPSILON-RI-BETA GENE WITH BRONCHIAL HYPERRESPONSIVENESS IN AN ITALIAN POPULATION-SAMPLE

      American journal of human genetics
    54. MARTINATI LC; TRABETTI E; CASARTELLI A; BONER AL; PIGNATTI PF
      AFFECTED SIB-PAIR AND MUTATION ANALYSES OF THE HIGH-AFFINITY IGE RECEPTOR-BETA CHAIN LOCUS IN ITALIAN FAMILIES WITH ATOPIC ASTHMATIC-CHILDREN

      American journal of respiratory and critical care medicine
    55. TURCO AE; ROSSETTI S; BRESIN E; CORRA S; RESTAGNO G; CARBONARA A; DEPRISCO O; GAMMARO L; MASCHIO G; PIGNATTI PF
      DETECTION OF 2 DIFFERENT NONSENSE MUTATIONS IN EXON-44 OF THE PKD1 GENE IN 2 UNRELATED ITALIAN FAMILIES WITH SEVERE AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE

      Nephrology, dialysis, transplantation
    56. BRESIN E; ROSSETTI S; ENGLISCH S; CORRA S; PIGNATTI PF; TURCO AE
      A COMMON POLYMORPHISM IN EXON-46 OF THE HUMAN AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE-1 GENE (PKD1)

      Molecular and cellular probes
    57. COHENSOLAL L; ZOLEZZI F; PIGNATTI PF; MOTTES M
      INTRAFAMILIAL VARIABLE EXPRESSIVITY OF OSTEOGENESIS IMPERFECTA DUE TOMOSAICISM FOR A LETHAL G382R SUBSTITUTION IN THE COL1A1 GENE

      Molecular and cellular probes
    58. MARTINELLI G; TRABETTI E; FARABEGOLI P; BUZZI M; ZACCARIA A; TESTONI N; AMABILE M; CASARTELLI A; DEVIVO A; PIGNATTI PF; TURA S
      FINGERPRINTING OF HLA-DQA BY POLYMERASE CHAIN-REACTION AND HETERODUPLEX ANALYSIS

      Molecular and cellular probes
    59. TURCO AE; CLEMENTI M; ROSSETTI S; TENCONI R; PIGNATTI PF
      AN ITALIAN FAMILY WITH AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE UNLINKED TO EITHER THE PKD1 OR PKD2 GENE

      American journal of kidney diseases
    60. ROSSETTI S; BRESIN E; RESTAGNO G; CARBONARA A; CORRA S; DEPRISCO O; PIGNATTI PF; TURCO AE
      AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD) IN AN ITALIAN FAMILY CARRYING A NOVEL NONSENSE MUTATION AND 2 MISSENSE CHANGES IN EXON-44 AND EXON-45 OF THE PKD1 GENE

      American journal of medical genetics
    61. FRISO S; GIRELLI D; TRABETTI E; OLIVIERI O; AZZINI M; FACCINI G; PESSOTTO R; RUSSO C; GUARINI P; MINGUZZI D; MAZZUCCO A; PIGNATTI PF; CORROCHER R
      A GENETIC RISK FACTOR FOR VASCULAR-DISEASE WHICH LEADS TO MILD HYPERHOMOCYSTEINEMIA IS COMMON IN NORTHERN ITALY

      Blood
    62. RENIERI A; BRUTTINI M; GALLI L; ZANELLI P; NERI T; ROSSETTI S; TURCO A; HEISKARI N; ZHOU J; GUSMANO R; MASSELLA L; BANFI G; SCOLARI F; SESSA A; RIZZONI G; TRYGGVASON K; PIGNATTI PF; SAVI M; BALLABIO A; DEMARCHI M
      X-LINKED ALPORT-SYNDROME - AN SSCP-BASED MUTATION SURVEY OVER ALL 51 EXONS OF THE COL4A5 GENE

      American journal of human genetics
    63. PIGNATTI PF; BOMBIERI C; BENETAZZO M; CASARTELLI A; TRABETTI E; GILE LS; MARTINATI LC; BONER AL; LUISETTI M
      CFTR GENE VARIANT IVS8-5T IN DISSEMINATED BRONCHIECTASIS

      American journal of human genetics
    64. PIGNATTI PF; LUISETTI M
      NORMAL SWEAT CHLORIDE VALUES DO NOT EXCLUDE THE DIAGNOSIS OF CYSTIC-FIBROSIS

      American journal of respiratory and critical care medicine
    65. GOMEZLIRA M; PERUSI C; BRUTTI N; FARNETANI MA; MARGOLLICCI MA; RIZZUTO N; PIGNATTI PF; SALVIATI A
      A 48-BP INSERTION BETWEEN EXON-13 AND EXON-14 OF THE HEXB GENE CAUSESINFANTILE-ONSET SANDHOFF DISEASE

      Human mutation
    66. ZOLEZZI F; FORLINO A; MOTTES M; VALLI M; SENSI A; CALZOLARI E; PIGNATTI PF; CETTA G
      A 931-]C TRANSITION IN ONE COL1A2 ALLELE CAUSES EXON-16 SKIPPING IN PRO-ALPHA-2(I) MESSENGER-RNA AND PRODUCES MODERATELY SEVERE OI(2T)

      Human mutation
    67. TURCO AE; ROSSETTI S; BRESIN E; CORRA S; GAMMARO L; MASCHIO G; PIGNATTI PF
      A NOVEL NONSENSE MUTATION IN THE PKD1 GENE (C3817T) IS ASSOCIATED WITH AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD) IN A LARGE 3-GENERATION ITALIAN FAMILY

      Human molecular genetics
    68. PIGNATTI PF; BOMBIERI C; MARIGO C; BENETAZZO M; LUISETTI M
      INCREASED INCIDENCE OF CYSTIC-FIBROSIS GENE-MUTATIONS IN ADULTS WITH DISSEMINATED BRONCHIECTASIS

      Human molecular genetics
    69. TRABETTI E; GALAVOTTI R; CASARTELLI A; MAGALINI G; DELEO D; PIGNATTI PF
      ALLELE AND GENOTYPE FREQUENCIES OF 8 DNA POLYMORPHISMS IN THE ITALIANPOPULATION

      Molecular and cellular probes
    70. ROSSETTI S; CORRA S; BIASI MO; TURCO AE; PIGNATTI PF
      COMPARISON OF HETERODUPLEX AND SINGLE-STRAND CONFORMATION ANALYSES, FOLLOWED BY ETHIDIUM FLUORESCENCE VISUALIZATION, FOR THE DETECTION OF MUTATIONS IN 4 HUMAN GENES

      Molecular and cellular probes
    71. MARIGO C; BOMBIERI C; BISCEGLIA L; ZELANTE L; GASPARINI P; PIGNATTI PF
      HOMOZYGOSITY FOR A NOVEL SPLICE-SITE MUTATION (2790-2 A-]G) PRECEDINGEXON-15 OF THE CFTR GENE IN A CYSTIC-FIBROSIS PATIENT OF NORTHEAST ITALIAN DESCENT

      Molecular and cellular probes
    72. GOMEZLIRA M; SANGALLI A; MOTTES M; PERUSI C; PIGNATTI PF; RIZZUTO N; SALVIATI A
      A COMMON BETA-HEXOSAMINIDASE GENE MUTATION IN ADULT SANDHOFF DISEASE PATIENTS

      Human genetics
    73. BONIZZATO A; BISCEGLIA L; MARIGO C; NICOLIS E; BOMBIERI C; CASTELLANI C; BORGO G; ZELANTE L; MASTELLA G; CABRINI G; GASPARINI P; PIGNATTI PF
      ANALYSIS OF THE COMPLETE CODING REGION OF THE CFTR GENE IN A COHORT OF CF PATIENTS FROM NORTH-EASTERN ITALY - IDENTIFICATION OF 90-PERCENT OF THE MUTATIONS

      Human genetics
    74. TURCO AE; PADOVANI EM; PEISSEL B; CHIAFFONI GP; ROSSETTI S; GAMMARO L; MASCHIO G; PIGNATTI PF
      GENE LINKAGE ANALYSIS AND DNA-BASED DETECTION OF AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD) IN A NEWBORN-INFANT - CASE-REPORT

      Journal of perinatal medicine
    75. TURCO AE; ROSSETTI S; BIASI MO; RIZZONI G; MASSELLA L; SAARINEN NH; RENIERI A; PIGNATTI PF; DEMARCHI M
      A NOVEL MISSENSE MUTATION IN EXON-3 OF THE COL4A5 GENE ASSOCIATED WITH LATE-ONSET ALPORT SYNDROME

      Clinical genetics
    76. CISLER J; MATHEWS K; WANG M; ZOLEZZI F; SEEMAYER TA; PIGNATTI PF; GORLIN RJ; GODFREY M
      FIBRILLIN IN THE WEILL-MARCHESANI SYNDROME

      American journal of human genetics
    77. PIGNATTI PF; BOMBIERI C; BENETAZZO MG; LUISETTI M
      1 3 OF DIFFUSE BRONCHIECTASIS PATIENTS ARE CARRIERS OF CFTR GENE-MUTATIONS - REPORT OF THE COMPLETE SCREENING OF THE GENE/

      American journal of human genetics
    78. TURCO AE; ROSSETTI S; BRESIN E; RESTAGNO G; CARBONARA A; GAMMARO L; MASCHIO G; PIGNATTI PF
      NOVEL NONSENSE MUTATIONS IN THE PKD1 GENE IN ITALIAN FAMILIES WITH AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD)

      American journal of human genetics
    79. GAMERONE S; ARDUINO C; FONTANA D; ROLLE L; MANENTI M; BOMBIERI C; BENETAZZO MG; PIGNATTI PF; CARBONARA AO
      ANALYSIS OF A POLY-T VARIANT IN INTRON-8 OF THE CFTR GENE IN ITALIAN PATIENTS WITH CONGENITAL BILATERAL ABSENCE OF THE VAS-DEFERENS (CBAVD)

      American journal of human genetics
    80. TURCO AE; PEISSEL B; ROSSETTI S; PIGNATTI PF
      RAPID DNA-BASED PRENATAL-DIAGNOSIS OF AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE

      Archives of pediatrics & adolescent medicine
    81. PEISSEL B; ROSSETTI S; RENIERI A; GALLI L; DEMARCHI M; BATTINI G; MERONI M; SESSA A; SCHIAVANO S; PIGNATTI PF; TURCO AE
      A NOVEL FRAMESHIFT DELETION IN TYPE-IV COLLAGEN ALPHA-5 GENE IN A JUVENILE-TYPE ALPORT SYNDROME PATIENT - AN ADENINE DELETION (2940 2943 DEL A) IN EXON 34 OF COL4A5/

      Human mutation
    82. FORLINO A; ZOLEZZI F; VALLI M; PIGNATTI PF; CETTA G; BRUNELLI PC; MOTTES M
      SEVERE (TYPE-III) OSTEOGENESIS IMPERFECTA DUE TO GLYCINE SUBSTITUTIONS IN THE CENTRAL DOMAIN OF THE COLLAGEN TRIPLE-HELIX

      Human molecular genetics
    83. MERCIER B; RAGUENES O; ESTIVILL X; MORRAL N; KAPLAN GC; MCCLURE M; GREBE TA; KESSLER D; PIGNATTI PF; MARIGO C; BOMBIERI C; AUDREZET MP; VERLINGUE C; FEREC C
      COMPLETE DETECTION OF MUTATIONS IN CYSTIC-FIBROSIS PATIENTS OF NATIVE-AMERICAN ORIGIN

      Human genetics
    84. MOTTES M; SANGALLI A; VALLI M; FORLINO A; GOMEZLIRA M; ANTONIAZZI F; CONSTANTINOUDELTAS CD; CETTA G; PIGNATTI PF
      A BASE SUBSTITUTION AT IVS-19 3'-END SPLICE JUNCTION CAUSES EXON-20 SKIPPING IN PRO-ALPHA-2(I) COLLAGEN MESSENGER-RNA AND PRODUCES MILD OSTEOGENESIS-IMPERFECTA

      Human genetics
    85. TURCO AE; PEISSEL B; ROSSETTI S; PIGNATTI PF; PADOVANI EM; CHIAFFONI GP
      SKELETAL MALFORMATIONS AND POLYCYSTIC KIDNEY-DISEASE

      Journal of Medical Genetics
    86. GOMEZLIRA M; SANGALLI A; PIGNATTI PF; DIGILIO MC; GIANNOTTI A; CARNEVALE E; MOTTES M
      DETERMINATION OF A NEW COLLAGEN TYPE-I ALPHA-2 GENE POINT MUTATION WHICH CAUSES A GLY640 CYS SUBSTITUTION IN OSTEOGENESIS IMPERFECTA AND PRENATAL-DIAGNOSIS BY DNA HYBRIDIZATION

      Journal of Medical Genetics
    87. GASPARINI P; MARIGO C; BISCEGLIA G; NICOLIS E; ZELANTE L; BOMBIERI C; BORGO G; PIGNATTI PF; CABRINI G
      SCREENING OF 62 MUTATIONS IN A COHORT OF CYSTIC-FIBROSIS PATIENTS FROM NORTH EASTERN ITALY - THEIR INCIDENCE AND CLINICAL-FEATURES OF DEFINED GENOTYPES

      Human mutation
    88. MOTTES M; LIRA MMG; VALLI M; SCARANO G; LONARDO F; FORLINO A; CETTA G; PIGNATTI PF
      PATERNAL MOSAICISM FOR A COL1A1 DOMINANT MUTATION (ALPHA-1 SER-415) CAUSES RECURRENT OSTEOGENESIS IMPERFECTA

      Human mutation
    89. 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
    90. 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
    91. TRABETTI E; GALAVOTTI R; ZANINI L; ZARDINI E; ZATTI N; BERNARDI F; NOTARANGELO A; CROCE AI; PIGNATTI PF; GASPARINI P
      THE PARENTAL ORIGIN OF HYDATIDIFORM MOLES AND BLIGHTED OVA - MOLECULAR PROBING WITH HYPERVARIABLE DNA POLYMORPHISMS

      Molecular and cellular probes
    92. BORGO G; GASPARINI P; BONIZZATO A; CABRINI G; MASTELLA G; PIGNATTI PF
      CYSTIC-FIBROSIS - THE DELTA-F508 MUTATION DOES NOT LEAD TO AN EXCEPTIONALLY SEVERE PHENOTYPE - A COHORT STUDY

      European journal of pediatrics
    93. MARTINELLI G; TRABETTI E; ZACCARIA A; FARABEGOLI P; BUZZI M; TESTONI N; CALORI E; BANDINI G; ROSTI G; BELARDINELLI A; GASPARINI P; GALAVOTTI R; AMBROSETTI A; TURA S; PIGNATTI PF
      IN-VITRO AMPLIFICATION OF HYPERVARIABLE DNA REGIONS FOR THE EVALUATION OF CHIMERISM AFTER ALLOGENEIC BMT

      Bone marrow transplantation
    94. SESSAREGO M; MARTINELLI G; CHIAMENTI A; DEFFERRARI R; FUGAZZA G; BRUZZONE R; AJMAR F; PIGNATTI PF
      MOLECULAR ANALYSIS OF 6 VARIANT PHILADELPHIA-CHROMOSOME TRANSLOCATIONS IN CHRONIC MYELOID-LEUKEMIA

      Cancer genetics and cytogenetics
    95. TURCO AE; PEISSEL B; ROSSETTI S; SELICORNI A; MANOUKIAN S; BRUSASCO A; TADINI G; GALIMBERTI A; TASSIS B; TUROLLA L; TENCONI R; PIGNATTI PF
      PRENATAL TESTING IN A FETUS AT RISK FOR AUTOSOMAL-DOMINANT POLYCYSTICKIDNEY-DISEASE AND AUTOSOMAL RECESSIVE JUNCTIONAL EPIDERMOLYSIS-BULLOSA WITH PYLORIC ATRESIA

      American journal of medical genetics
    96. TURCO AE; PADOVANI EM; CHIAFFONI GP; PEISSEL B; ROSSETTI S; MARCOLONGO A; GAMMARO L; MASCHIO G; PIGNATTI PF
      MOLECULAR-GENETIC DIAGNOSIS OF AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE IN A NEWBORN WITH BILATERAL CYSTIC KIDNEYS DETECTED PRENATALLY AND MULTIPLE SKELETAL MALFORMATIONS

      Journal of Medical Genetics
    97. FEREC C; RAGUENES O; KAPLAN G; GREBE TA; AUDREZET MP; MCCLURE M; KESSLER D; PIGNATTI PF; MERCIER B
      IDENTIFICATION OF ALL CFTR GENE-MUTATIONS IN THE PUEBLOS, A SOUTHWESTNATIVE-AMERICAN INDIAN POPULATION

      American journal of human genetics
    98. PIGNATTI PF; BOMBIERI C; MARIGO C; LUISETTI M
      CYSTIC-FIBROSIS GENE-MUTATIONS FOUND IN CHRONIC OBSTRUCTIVE PULMONARY-DISEASE PATIENTS

      American journal of human genetics
    99. RENIERI A; GALLI L; SERI M; DEMARCHI M; PEISSEL B; TURCO A; PIGNATTI PF; NERI T; ZANELLI P; SAVI M; HAMALAINEN ER; PILAJANIEMI T; ANTONELLI A; BANFI G; BASOLO B; GIORDANO M; COPPO R; CHIARULLI G; DANESINO C; DIPAOLO N; FASCIOLO F; GUSMANNO R; GIANI M; GOTTI E; IMBASCIATI E; LAMA G; LAMPERI D; LUPO A; LAVORATTI G; LIVOLTI S; MIGLIETTI N; MIGNANI G; MILETI M; MANNO C; PALLA R; PECORARO C; PELLANDA MV; PERATONER L; RIEGLER P; RIZZONI G; SASDELLI M; SESSA A; SCHIAVANO S; SCOLARI F; TENCONI R
      ALPORT SYNDROME IN ITALY - A MULTICENTER SCREENING FOR COL4A5 GENE-MUTATIONS

      American journal of human genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 16/01/21 alle ore 07:59:48