Le informazioni sugli articoli di fonte ISI sono coperte da copyright

Per ulteriori informazioni selezionare i riferimenti di interesse.

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
   
   S. Venanzi et al., "Linkage to atopy on chromosome 19 in north-eastern Italian families with allergic asthma", CLIN EXP AL, 31(8), 2001, pp. 1220-1224
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
   
   M. Gomez-Lira et al., "A novel 4-bp deletion creates a premature stop codon and dramatically decreases HEXB mRNA levels in a severe case of Sandhoff disease", MOL CELL PR, 15(2), 2001, pp. 75-79
3. Quinzii, C; Belpinati, F; Pignatti, PF
   Predictive genetic testing - New possibilities in determination of risk ofcomplex diseases
   CROATIAN MEDICAL JOURNAL
   
   C. Quinzii et al., "Predictive genetic testing - New possibilities in determination of risk ofcomplex diseases", CROAT MED J, 42(4), 2001, pp. 458-462
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
   
   O. Olivieri et al., "Homozygosity for angiotensinogen 235T variant increases the risk of myocardial infarction in patients with multi-vessel coronary artery disease", J HYPERTENS, 19(5), 2001, pp. 879-884
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
   
   G. Malerba et al., "Chromosome 14 linkage analysis and mutation study of 2 serpin genes in allergic asthmatic families", J ALLERG CL, 107(4), 2001, pp. 654-658
6. Luisetti, M; Pignatti, PF
   No association of tumor necrosis factor-alpha gene polymorphism and COPD in Caucasian smokers and Japanese smokers
   CHEST
   
   M. Luisetti e P.F. Pignatti, "No association of tumor necrosis factor-alpha gene polymorphism and COPD in Caucasian smokers and Japanese smokers", CHEST, 119(1), 2001, pp. 315-316
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
   
   G. Malerba et al., "Linkage analysis of chromosome 12 markers in Italian families with atopic asthmatic children", AM J R CRIT, 162(4), 2000, pp. 1587-1590
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
   
   C. Bombieri et al., "Increased frequency of CFTR gene mutations in sarcoidosis: a case/control association study", EUR J HUM G, 8(9), 2000, pp. 717-720
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
   
   E. Dequeker et al., "Recommendations for quality improvement in genetic testing for cystic fibrosis European Concerted Action on Cystic Fibrosis", EUR J HUM G, 8, 2000, pp. S2-S24
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
    
    S. Mirandola et al., "Three novel polymorphic sequence variants in the type I collagen gene COL1A1, the main disease locus for Osteogenesis imperfecta", MOL CELL PR, 14(6), 2000, pp. 329-332
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
    
    T. Dork et al., "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", HUM GENET, 106(3), 2000, pp. 259-268
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
    
    C. Bombieri et al., "A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals", HUM GENET, 106(2), 2000, pp. 172-178
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
    
    C. Patuzzo et al., "No linkage or association of the IL-4R alpha gene Q576R mutation with atopic asthma in Italian families", J MED GENET, 37(5), 2000, pp. 382-384
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
    
    C. Patuzzo et al., "Tumor necrosis factor gene complex in COPD and disseminated bronchiectasis", CHEST, 117(5), 2000, pp. 1353-1358
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
    
    M.G. Lira et al., "High frequency of cystic fibrosis transmembrane regulator mutation L997F in patients with recurrent idiopathic pancreatitis and in newborns with hypertrypsinemia", AM J HU GEN, 66(6), 2000, pp. 2013-2014
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
    
    M. Mottes et al., "Allelic frequencies of FBN1 gene polymorphisms and genetic analysis of Italian families with Marfan syndrome", HUMAN HERED, 50(3), 2000, pp. 175-179
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
    
    L. Pereira et al., "Cystic fibrosis mutations R1162X and 2183AA -> G in two southern Brazilianstates", GENET MOL B, 22(3), 1999, pp. 291-294
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
    
    G. Malerba et al., "Candidate genes and a genome-wide search in Italian families with atopic asthmatic children", CLIN EXP AL, 29, 1999, pp. 27-30
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
    
    M.G. Bentazzo et al., "alpha(1)-antitrypsin TAQ I polymorphism and alpha(1)-antichymotrypsin mutations in patients with obstructive pulmonary disease", RESP MED, 93(9), 1999, pp. 648-654
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
    
    C. Perusi et al., "Two novel missense mutations causing adrenoleukodystrophy in Italian patients", MOL CELL PR, 13(3), 1999, pp. 179-182
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
    
    S. Mirandola et al., "A novel intragenic polymorphism within the COL1A1 locus which can be detected by TaqI restriction of amplified genomic DNA", MOL CELL PR, 13(3), 1999, pp. 243-245
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
    
    O. Olivieri et al., "Genetic polymorphisms of the renin-angiotensin system and atheromatous renal artery stenosis", HYPERTENSIO, 34(5), 1999, pp. 1097-1100
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
    
    M. Gomez-Lira et al., "Two novel frameshift mutations in the adrenoleukodystrophy gene in Italianpatients", J NEUR SCI, 165(1), 1999, pp. 62-65
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
    
    E. Trabetti et al., "Association of a lymphotoxin alpha gene polymorphism and atopy in Italian families", J MED GENET, 36(4), 1999, pp. 323-325
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
    
    C. Perusi et al., "Mutations associated with very late-onset metachromatic leukodystrophy", CLIN GENET, 55(2), 1999, pp. 130-130
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
    
    C. Castellani et al., "Cystic fibrosis mutations in heterozygous newborns with hypertrypsinemia and low sweat chloride", AM J HU GEN, 64(1), 1999, pp. 303-304
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.)
    
    K.J. Holroyd et al., "ASTHMA AND BRONCHIAL HYPERRESPONSIVENESS LINKED TO THE XY LONG ARM PSEUDOAUTOSOMAL REGION", Genomics (San Diego, Calif.), 52(2), 1998, pp. 233-235
28. Pignatti, PF
    Asthma genetics
    RIVISTA ITALIANA DI PEDIATRIA-ITALIAN JOURNAL OF PEDIATRICS
    
    P.F. Pignatti, "Asthma genetics", RIV ITAL P, 24(5), 1998, pp. 829-831
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
    
    M. Gomezlira et al., "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, 102(5), 1998, pp. 602-602
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
    
    M. Gomezlira et al., "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, 102(4), 1998, pp. 459-463
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
    
    C. Bombieri et al., "Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease", HUM GENET, 103(6), 1998, pp. 718-722
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
    
    M. Gomezlira et al., "SPLICING MUTATION CAUSES INFANTILE SANDHOFF-DISEASE", American journal of medical genetics, 75(3), 1998, pp. 330-333
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
    
    E. Trabetti et al., "ASSOCIATION OF THE FC-EPSILON-RI-BETA GENE WITH BRONCHIAL HYPERRESPONSIVENESS IN AN ITALIAN POPULATION", Journal of Medical Genetics, 35(8), 1998, pp. 680-681
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
    
    I. Drmic et al., "ALLELE FREQUENCIES OF 6 HIGHLY POLYMORPHIC DNA LOCI IN THE CROATIAN POPULATION", Human biology, 70(5), 1998, pp. 949-957
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
    
    S. Soriani et al., "Frequency of factor V Leiden in juvenile migraine with aura", HEADACHE, 38(10), 1998, pp. 779-781
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
    
    D. Girelli et al., "POST-METHIONINE IN PATIENTS WITH LOADING HYPERHOMOCYSTEINEMIA ANGIOGRAPHICALLY DOCUMENTED CORONARY-ARTERY DISEASE", British Journal of Haematology, 102(1), 1998, pp. 251-251
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
    
    C. Borgna-Pignatti et al., "The haemochromatosis mutations do not modify the clinical picture of thalassaemia major in patients regularly transfused and chelated", BR J HAEM, 103(3), 1998, pp. 813-816
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
    
    D. Girelli et al., "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, 91(11), 1998, pp. 4158-4163
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
    
    X. Estivill et al., "GEOGRAPHIC-DISTRIBUTION AND REGIONAL ORIGIN OF 272 CYSTIC-FIBROSIS INEUROPEAN POPULATIONS", Human mutation, 10(2), 1997, pp. 135-154
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
    
    A.E. Turco et al., "3 NOVEL MUTATIONS OF THE PKD1 GENE IN ITALIAN FAMILIES WITH AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE", Human mutation, 10(2), 1997, pp. 164-167
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
    
    L. Oldrizzi et al., "ACE GENOTYPE IN ADPKD-1 - A MARKER FOR A FASTER PROGRESSION TO END-STAGE RENAL-FAILURE (ESRF)", Journal of the American Society of Nephrology, 8, 1997, pp. 1743-1743
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
    
    A.E. Turco et al., "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, 8, 1997, pp. 1767-1767
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
    
    C. Perusi et al., "A NOVEL MUTATION WHICH REPRESENTS THE 5TH NONPATHOGENIC POLYMORPHISM IN THE CODING SEQUENCE OF THE ARYLSULFATASE-A GENE", Molecular and cellular probes, 11(6), 1997, pp. 449-451
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
    
    S. Rossetti et al., "DETECTION OF MUTATIONS IN HUMAN GENES BY A NEW RAPID METHOD - CLEAVAGE FRAGMENT LENGTH POLYMORPHISM ANALYSIS (CFLPA)", Molecular and cellular probes, 11(2), 1997, pp. 155-160
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
    
    G. Martinelli et al., "EARLY DETECTION OF BONE-MARROW ENGRAFTMENT BY AMPLIFICATION OF HYPERVARIABLE DNA REGIONS", Haematologica, 82(2), 1997, pp. 156-160
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
    
    D. Girelli et al., "METHYLENETETRAHYDROFOLATE REDUCTASE C677T MUTATION, PLASMA HOMOCYSTEINE AND FOLATE, IN A POPULATION OF CORONARY-ARTERY DISEASE PATIENTS FROM NORTHERN ITALY", Thrombosis and haemostasis, 1997, pp. 2161-2161
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
    
    A.E. Turco et al., "RAPID DNA-BASED PRENATAL-DIAGNOSIS BY GENETIC-LINKAGE IN 3 FAMILIES WITH ALPORTS-SYNDROME", American journal of kidney diseases, 30(2), 1997, pp. 174-179
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
    
    F. Zolezzi et al., "MUTATION PRODUCING ALTERNATIVE SPLICING OF EXON-26 IN THE COL1A2 GENECAUSES TYPE-IV OSTEOGENESIS IMPERFECTA WITH INTRAFAMILIAL CLINICAL VARIABILITY", American journal of medical genetics, 71(3), 1997, pp. 366-370
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
    
    S. Friso et al., "METHYLENETETRAHYDROFOLATE REDUCTASE C677T MUTATION, PLASMA HOMOCYSTEINE AND FOLATE LEVELS IN ITALIAN PATIENTS WITH CORONARY-ARTERY DISEASE - EVIDENCE FOR AN IMPORTANT GENE-ENVIRONMENT INTERACTION", Blood, 90(10), 1997, pp. 666-666
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
    
    S. Rendine et al., "GENETIC HISTORY OF CYSTIC-FIBROSIS MUTATIONS IN ITALY - I - REGIONAL DISTRIBUTION", Annals of Human Genetics, 61, 1997, pp. 411-424
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
    
    A.E. Turco et al., "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, 61(4), 1997, pp. 1111-1111
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
    
    M. Mottes et al., "ALLELIC VARIANTS OF HUMAN CALCITONIN RECEPTOR GENE (CALCR) IN THE ITALIAN POPULATION AND IN OSTEOPOROTIC PATIENTS", American journal of human genetics, 61(4), 1997, pp. 1193-1193
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
    
    P.F. Pignatti et al., "ASSOCIATION OF THE FC-EPSILON-RI-BETA GENE WITH BRONCHIAL HYPERRESPONSIVENESS IN AN ITALIAN POPULATION-SAMPLE", American journal of human genetics, 61(4), 1997, pp. 1698-1698
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
    
    L.C. Martinati et al., "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, 153(5), 1996, pp. 1682-1685
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
    
    A.E. Turco et al., "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, 11, 1996, pp. 10-12
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
    
    E. Bresin et al., "A COMMON POLYMORPHISM IN EXON-46 OF THE HUMAN AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE-1 GENE (PKD1)", Molecular and cellular probes, 10(6), 1996, pp. 463-465
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
    
    L. Cohensolal et al., "INTRAFAMILIAL VARIABLE EXPRESSIVITY OF OSTEOGENESIS IMPERFECTA DUE TOMOSAICISM FOR A LETHAL G382R SUBSTITUTION IN THE COL1A1 GENE", Molecular and cellular probes, 10(3), 1996, pp. 219-225
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
    
    G. Martinelli et al., "FINGERPRINTING OF HLA-DQA BY POLYMERASE CHAIN-REACTION AND HETERODUPLEX ANALYSIS", Molecular and cellular probes, 10(2), 1996, pp. 123-127
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
    
    A.E. Turco et al., "AN ITALIAN FAMILY WITH AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE UNLINKED TO EITHER THE PKD1 OR PKD2 GENE", American journal of kidney diseases, 28(5), 1996, pp. 759-761
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
    
    S. Rossetti et al., "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, 65(2), 1996, pp. 155-159
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
    
    S. Friso et al., "A GENETIC RISK FACTOR FOR VASCULAR-DISEASE WHICH LEADS TO MILD HYPERHOMOCYSTEINEMIA IS COMMON IN NORTHERN ITALY", Blood, 88(10), 1996, pp. 3051-3051
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
    
    A. Renieri et al., "X-LINKED ALPORT-SYNDROME - AN SSCP-BASED MUTATION SURVEY OVER ALL 51 EXONS OF THE COL4A5 GENE", American journal of human genetics, 58(6), 1996, pp. 1192-1204
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
    
    P.F. Pignatti et al., "CFTR GENE VARIANT IVS8-5T IN DISSEMINATED BRONCHIECTASIS", American journal of human genetics, 58(4), 1996, pp. 889-892
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
    
    P.F. Pignatti e M. Luisetti, "NORMAL SWEAT CHLORIDE VALUES DO NOT EXCLUDE THE DIAGNOSIS OF CYSTIC-FIBROSIS", American journal of respiratory and critical care medicine, 152(5), 1995, pp. 1736-1736
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
    
    M. Gomezlira et al., "A 48-BP INSERTION BETWEEN EXON-13 AND EXON-14 OF THE HEXB GENE CAUSESINFANTILE-ONSET SANDHOFF DISEASE", Human mutation, 6(3), 1995, pp. 260-262
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
    
    F. Zolezzi et al., "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, 6(3), 1995, pp. 268-271
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
    
    A.E. Turco et al., "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, 4(8), 1995, pp. 1331-1335
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
    
    P.F. Pignatti et al., "INCREASED INCIDENCE OF CYSTIC-FIBROSIS GENE-MUTATIONS IN ADULTS WITH DISSEMINATED BRONCHIECTASIS", Human molecular genetics, 4(4), 1995, pp. 635-639
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
    
    E. Trabetti et al., "ALLELE AND GENOTYPE FREQUENCIES OF 8 DNA POLYMORPHISMS IN THE ITALIANPOPULATION", Molecular and cellular probes, 9(3), 1995, pp. 183-188
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
    
    S. Rossetti et al., "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, 9(3), 1995, pp. 195-200
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
    
    C. Marigo et al., "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, 9(2), 1995, pp. 139-141
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
    
    M. Gomezlira et al., "A COMMON BETA-HEXOSAMINIDASE GENE MUTATION IN ADULT SANDHOFF DISEASE PATIENTS", Human genetics, 96(4), 1995, pp. 417-422
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
    
    A. Bonizzato et al., "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, 95(4), 1995, pp. 397-402
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
    
    A.E. Turco et al., "GENE LINKAGE ANALYSIS AND DNA-BASED DETECTION OF AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD) IN A NEWBORN-INFANT - CASE-REPORT", Journal of perinatal medicine, 23(3), 1995, pp. 205-212
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
    
    A.E. Turco et al., "A NOVEL MISSENSE MUTATION IN EXON-3 OF THE COL4A5 GENE ASSOCIATED WITH LATE-ONSET ALPORT SYNDROME", Clinical genetics, 48(5), 1995, pp. 261-263
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
    
    J. Cisler et al., "FIBRILLIN IN THE WEILL-MARCHESANI SYNDROME", American journal of human genetics, 57(4), 1995, pp. 1210-1210
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
    
    P.F. Pignatti et al., "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, 57(4), 1995, pp. 1295-1295
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
    
    A.E. Turco et al., "NOVEL NONSENSE MUTATIONS IN THE PKD1 GENE IN ITALIAN FAMILIES WITH AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD)", American journal of human genetics, 57(4), 1995, pp. 1330-1330
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
    
    S. Gamerone et al., "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, 57(4), 1995, pp. 1958-1958
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
    
    A.E. Turco et al., "RAPID DNA-BASED PRENATAL-DIAGNOSIS OF AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE", Archives of pediatrics & adolescent medicine, 148(10), 1994, pp. 1101-1102
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
    
    B. Peissel et al., "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, 3(4), 1994, pp. 386-390
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
    
    A. Forlino et al., "SEVERE (TYPE-III) OSTEOGENESIS IMPERFECTA DUE TO GLYCINE SUBSTITUTIONS IN THE CENTRAL DOMAIN OF THE COLLAGEN TRIPLE-HELIX", Human molecular genetics, 3(12), 1994, pp. 2201-2206
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
    
    B. Mercier et al., "COMPLETE DETECTION OF MUTATIONS IN CYSTIC-FIBROSIS PATIENTS OF NATIVE-AMERICAN ORIGIN", Human genetics, 94(6), 1994, pp. 629-632
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
    
    M. Mottes et al., "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, 93(6), 1994, pp. 681-687
85. TURCO AE; PEISSEL B; ROSSETTI S; PIGNATTI PF; PADOVANI EM; CHIAFFONI GP
    SKELETAL MALFORMATIONS AND POLYCYSTIC KIDNEY-DISEASE
    Journal of Medical Genetics
    
    A.E. Turco et al., "SKELETAL MALFORMATIONS AND POLYCYSTIC KIDNEY-DISEASE", Journal of Medical Genetics, 31(9), 1994, pp. 741-742
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
    
    M. Gomezlira et al., "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, 31(12), 1994, pp. 965-968
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
    
    P. Gasparini et al., "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, 2(5), 1993, pp. 389-394
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
    
    M. Mottes et al., "PATERNAL MOSAICISM FOR A COL1A1 DOMINANT MUTATION (ALPHA-1 SER-415) CAUSES RECURRENT OSTEOGENESIS IMPERFECTA", Human mutation, 2(3), 1993, pp. 196-204
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
    
    M. Ramsay et al., "HAPLOTYPE ANALYSIS TO DETERMINE THE POSITION OF A MUTATION AMONG CLOSELY LINKED DNA MARKERS (VOL 2, PG 1007, 1993)", Human molecular genetics, 2(9), 1993, pp. 1523-1523
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
    
    M. Ramsay et al., "HAPLOTYPE ANALYSIS TO DETERMINE THE POSITION OF A MUTATION AMONG CLOSELY LINKED DNA MARKERS", Human molecular genetics, 2(7), 1993, pp. 1007-1014
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
    
    E. Trabetti et al., "THE PARENTAL ORIGIN OF HYDATIDIFORM MOLES AND BLIGHTED OVA - MOLECULAR PROBING WITH HYPERVARIABLE DNA POLYMORPHISMS", Molecular and cellular probes, 7(4), 1993, pp. 325-329
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
    
    G. Borgo et al., "CYSTIC-FIBROSIS - THE DELTA-F508 MUTATION DOES NOT LEAD TO AN EXCEPTIONALLY SEVERE PHENOTYPE - A COHORT STUDY", European journal of pediatrics, 152(12), 1993, pp. 1006-1011
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
    
    G. Martinelli et al., "IN-VITRO AMPLIFICATION OF HYPERVARIABLE DNA REGIONS FOR THE EVALUATION OF CHIMERISM AFTER ALLOGENEIC BMT", Bone marrow transplantation, 12(2), 1993, pp. 115-120
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
    
    M. Sessarego et al., "MOLECULAR ANALYSIS OF 6 VARIANT PHILADELPHIA-CHROMOSOME TRANSLOCATIONS IN CHRONIC MYELOID-LEUKEMIA", Cancer genetics and cytogenetics, 67(1), 1993, pp. 50-54
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
    
    A.E. Turco et al., "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, 47(8), 1993, pp. 1225-1230
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
    
    A.E. Turco et al., "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, 30(5), 1993, pp. 419-422
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
    
    C. Ferec et al., "IDENTIFICATION OF ALL CFTR GENE-MUTATIONS IN THE PUEBLOS, A SOUTHWESTNATIVE-AMERICAN INDIAN POPULATION", American journal of human genetics, 53(3), 1993, pp. 800-800
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
    
    P.F. Pignatti et al., "CYSTIC-FIBROSIS GENE-MUTATIONS FOUND IN CHRONIC OBSTRUCTIVE PULMONARY-DISEASE PATIENTS", American journal of human genetics, 53(3), 1993, pp. 1213-1213
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
    
    A. Renieri et al., "ALPORT SYNDROME IN ITALY - A MULTICENTER SCREENING FOR COL4A5 GENE-MUTATIONS", American journal of human genetics, 53(3), 1993, pp. 1219-1219