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    1. Persico, AM; D'Agruma, L; Maiorano, N; Totaro, A; Militerni, R; Bravaccio, C; Wassink, TH; Schneider, C; Melmed, R; Trillo, S; Montecchi, F; Palermo, M; Pascucci, T; Puglisi-Allegra, S; Reichelt, KL; Conciatori, M; Marino, R; Quattrocchi, CC; Baldi, A; Zelante, L; Gasparini, P; Keller, F
      Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder

      MOLECULAR PSYCHIATRY
    2. Crisponi, L; Deiana, M; Loi, A; Chiappe, F; Uda, M; Amati, P; Bisceglia, L; Zelante, L; Nagaraja, R; Porcu, S; Ristaldi, MS; Marzella, R; Rocchi, M; Nicolino, M; Lienhardt-Roussie, A; Nivelon, A; Verloes, A; Schlessinger, D; Gasparini, P; Bonneau, D; Cao, A; Pilia, G
      The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

      NATURE GENETICS
    3. Nicolao, P; Carella, M; Giometto, B; Tavolato, B; Cattin, R; Giovannucci-Uzielli, ML; Vacca, M; Della Regione, F; Piva, S; Bortoluzzi, S; Gasparini, P
      DHPLC analysis of the MECP2 gene in Italian Rett patients

      HUMAN MUTATION
    4. Lopez-Bigas, N; Olive, M; Rabionet, R; Ben-David, O; Martinez-Matos, JA; Bravo, O; Banchs, I; Volpini, V; Gasparini, P; Avraham, KB; Ferrer, I; Arbones, ML; Estivill, X
      Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment

      HUMAN MOLECULAR GENETICS
    5. Font, M; Feliubadalo, L; Estivill, X; Nunes, V; Golomb, E; Kreiss, Y; Pras, E; Bisceglia, L; d'Adamo, AP; Zelante, L; Gasparini, P; Bassi, MT; George, AL; Manzoni, M; Riboni, M; Ballabio, A; Borsani, G; Reig, N; Fernandez, E; Zorzano, A; Bertran, J; Palacin, M
      Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria

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

      KIDNEY INTERNATIONAL
    7. Auger, E; Gasparini, P; Virieux, J; Zollo, A
      Seismic evidence of an extended magmatic sill under Mt. Vesuvius

      SCIENCE
    8. Montosi, G; Donovan, A; Totaro, A; Garuti, C; Pignatti, E; Cassanelli, S; Trenor, CC; Gasparini, P; Andrews, NC; Pietrangelo, A
      Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene

      JOURNAL OF CLINICAL INVESTIGATION
    9. Roetto, A; Totaro, A; Piperno, A; Piga, A; Longo, F; Garozzo, G; Cali, A; De Gobbi, M; Gasparini, P; Camaschella, C
      New mutations inactivating transferrin receptor 2 in hemochromatosis type 3

      BLOOD
    10. Greco, L; Babron, MC; Corazza, GR; Percopo, S; Sica, R; Clot, F; Fulchignoni-Lataud, MC; Zavattari, P; Momigliano-Richiardi, P; Casari, G; Gasparini, P; Tosi, R; Mantovani, V; De Virgiliis, S; Iacono, G; D'Alfonso, A; Selinger-Leneman, H; Lemainque, A; Serre, JL; Clerget-Darpoux, F
      Existence of a genetic risk factor on chromosome 5q in Italian Coeliac Disease families

      ANNALS OF HUMAN GENETICS
    11. Joensuu, T; Hamalainen, R; Yuan, B; Johnson, C; Tegelberg, S; Gasparini, P; Zelante, L; Pirvola, U; Pakarinen, L; Lehesjoki, AE; de la Chapelle, A; Sankila, EM
      Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3

      AMERICAN JOURNAL OF HUMAN GENETICS
    12. Melchionda, S; Ahituv, N; Bisceglia, L; Sobe, T; Glaser, F; Rabionet, R; Arbones, ML; Notarangelo, A; Di Iorio, E; Carella, M; Zelante, L; Estivill, X; Avraham, KB; Gasparini, P
      MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss

      AMERICAN JOURNAL OF HUMAN GENETICS
    13. Roetto, A; Alberti, F; Daraio, F; Cali, A; Cazzola, M; Totaro, A; Gasparini, P; Camaschella, C
      Exclusion of ZIRTL as candidate gene of juvenile hemochromatosis and refinement of the critical interval on 1q21

      BLOOD CELLS MOLECULES AND DISEASES
    14. Camaschella, C; Roetto, A; Cali, A; De Gobbi, M; Garozzo, G; Carella, M; Majorano, N; Totaro, A; Gasparini, P
      The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22

      NATURE GENETICS
    15. Rabionet, R; Gasparini, P; Estivill, X
      Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins

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

      HUMAN MUTATION
    17. Gasparini, P; Rabionet, R; Barbujani, G; Melchionda, S; Petersen, M; Brondum-Nielsen, K; Metspalu, A; Oitmaa, E; Pisano, M; Fortina, P; Zelante, L; Estivill, X
      High carrier frequency of the 35delG deafness mutation in European populations

      EUROPEAN JOURNAL OF HUMAN GENETICS
    18. Zelante, L; Gasparini, P; Savoia, A; Lomuto, M; Pellicano, R
      A new case of Acromegaloid Facial Appearance (AFA) syndrome with an expanded phenotype

      CLINICAL DYSMORPHOLOGY
    19. Bertoldo, F; D'Agruma, L; Furlan, F; Colapietro, F; Lorenzi, MT; Maioran, N; Iolascon, A; Zelante, L; Locascio, V; Gasparini, P
      Transforming growth factor-beta 1 gene polymorphism, bone turnover, and bone mass in Italian postmenopausal women

      JOURNAL OF BONE AND MINERAL RESEARCH
    20. Iolascon, A; Servedio, V; Carbone, R; Totaro, A; Carella, M; Perrotta, S; Wickramasinghe, SN; Delaunay, J; Heimpel, H; Gasparini, P
      Geographic distribution of CDA-II: did a founder effect operate in Southern Italy?

      HAEMATOLOGICA
    21. Gasparini, P
      Brazil in 'Yo el Supremo' (The bandeirantes, tamoraes and the cardboard carnivals)

      HISPAMERICA-REVISTA DE LITERATURA
    22. Rabionet, R; Zelante, L; Lopez-Bigas, N; D'Agruma, L; Melchionda, S; Restagno, G; Arbones, ML; Gasparini, P; Estivill, X
      Molecular basis of childhood deafness resulting from mutations in the GJB2(connexin 26) gene

      HUMAN GENETICS
    23. Zavaroni, I; Platti, PM; Monti, LD; Gasparini, P; Barilli, LA; Massironi, P; Ardigo, D; Valsecchi, G; Delsignore, R; Reaven, GM
      Plasma nitric oxide concentrations are elevated in insulin-resistant healthy subjects

      METABOLISM-CLINICAL AND EXPERIMENTAL
    24. Zavaroni, I; Gasparini, P; Barilli, AI; Massironi, P; Campanini, C; Carantoni, M; Delsignore, R; Reaven, GM
      Comparison of fasting plasma leptin concentrations in healthy subjects with high and low plasma insulin

      METABOLISM-CLINICAL AND EXPERIMENTAL
    25. Perrotta, S; Cappellini, MD; Bertoldo, F; Servedio, V; Iolascon, G; D'Agruma, L; Gasparini, P; Siciliani, MC; Iolascon, A
      Osteoporosis in beta-thalassaemia major patients: analysis of the genetic background

      BRITISH JOURNAL OF HAEMATOLOGY
    26. Robson, KJH; Merryweather-Clark, AT; Pointon, JJ; Shearman, JD; Halsall, DJ; Kelly, A; Cox, TM; Rosenberg, WM; Howell, M; Eccles, D; Patch, C; Fowler, AV; Wallace, DF; Camaschella, C; Roetto, A; Zecchina, G; De Gobbi, M; Gasparini, P; Cadet, E; Vandwalle, JL; Capron, D; Rochette, J; Borot, N; Demangel, C; Dery, R; Vinel, JP; Pascal, JP; Coppin, H; Roth, MP
      Diagnosis and management of haemochromatosis since the discovery of the HFE gene: A European experience

      BRITISH JOURNAL OF HAEMATOLOGY
    27. Grootenboer, S; Schischmanoff, PO; Laurendeau, I; Cynober, T; Tchernia, G; Dommergues, JP; Dhermy, D; Bost, M; Varet, B; Snyder, M; Ballas, SK; Ducot, B; Babron, MC; Stewart, GW; Gasparini, P; Iolascon, A; Delaunay, J
      Pleiotropic syndrome of dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema maps to 16q23-q24

      BLOOD
    28. Angius, A; Spinelli, P; Ghilotti, G; Casu, G; Sole, G; Loi, A; Totaro, A; Zelante, L; Gasparini, P; Orzalesi, N; Piratsu, M; Bonomi, L
      Myocilin Gln368stop mutation and advanced age as risk factors for late-onset primary open-angle glaucoma

      ARCHIVES OF OPHTHALMOLOGY
    29. Gasparini, P; Estivill, X; Fortina, P
      Vestibular and hearing loss in genetic and metabolic disorders

      CURRENT OPINION IN NEUROLOGY
    30. Seri, M; Melchionda, S; Dreyer, S; Marini, M; Carella, M; Cusano, R; Piemontese, MR; Caroli, F; Silengo, M; Zelante, L; Romeo, G; Ravazzolo, R; Gasparini, P; Lee, B
      Identification of LMX1B gene point mutations in Italian patients affected with Nail-Patella syndrome

      INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
    31. Merryweather-Clarke, AT; Pointon, JJ; Shearman, JD; Robson, KJH; Jouanolle, AM; Mosser, A; David, V; Le Gall, JY; Halsall, DJ; Elsey, TS; Kelly, A; Cox, TM; Clare, M; Bomford, A; Vandwalle, JL; Rochette, J; Borot, N; Coppin, H; Roth, MP; Ryan, E; Crowe, J; Totaro, A; Gasparini, P; Roetto, A; Gamaschella, C; Darke, C; Wallace, DF; Saeb-Parsy, K; Dooley, JS; Worwood, M; Walker, AP
      Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results

      NATURE GENETICS
    32. Grifa, A; Wagner, CA; D'Ambrosio, L; Melchionda, S; Bernardi, F; Lopez-Bigas, N; Rabionet, R; Arbones, M; Della Monica, M; Estivill, X; Zelante, L; Lang, F; Gasparini, P
      Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus

      NATURE GENETICS
    33. Feliubadalo, L; Font, M; Purroy, J; Rousaud, F; Estivill, X; Nunes, V; Golomb, E; Centola, M; Aksentijevich, I; Kreiss, Y; Goldman, B; Pras, M; Kastner, DL; Pras, E; Gasparini, P; Bisceglia, L; Beccia, E; Gallucci, M; de Sanctis, L; Ponzone, A; Rizzoni, GF; Zelante, L; Bassi, MT; George, AL; Manzoni, M; De Grandi, A; Riboni, M; Endsley, JK; Ballabio, A; Borsani, G; Reig, N; Fernandez, E; Estevez, R; Pineda, M; Torrents, D; Camps, M; Lloberas, J; Zorzano, A; Palacin, M
      Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (b(o,+)AT) of rBAT

      NATURE GENETICS
    34. Lopez-Bigas, N; Rabionet, R; de Cid, R; Govea, N; Gasparini, P; Zelante, L; Arbones, ML; Estivill, X
      Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome

      HUMAN MUTATION
    35. Annese, V; Latiano, A; Bovio, P; Forabosco, P; Piepoli, A; Lombardi, G; Andreoli, A; Astegiano, M; Gionchetti, P; Riegler, G; Sturniolo, GC; Clementi, M; Rappaport, E; Fortina, P; Devoto, M; Gasparini, P; Andriulli, A
      Genetic analysis in Italian families with inflammatory bowel disease supports linkage to the IBD1 locus - A GISC study

      EUROPEAN JOURNAL OF HUMAN GENETICS
    36. 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
    37. Zelante, L; Candela, MA; Savoia, A; Gasparini, P
      Confirmation of Kapur-Toriello syndrome in an Italian patient

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

      GENOMICS
    39. Castriota-Scanderbeg, A; Zelante, L; Masala, S; Gasparini, P; Lachman, RS
      Acrodysplasia, severe ossification abnormalities with short stature, and fibular hypoplasia

      AMERICAN JOURNAL OF MEDICAL GENETICS
    40. Pietrangelo, A; Montosi, G; Totaro, A; Garuti, C; Conte, D; Cassanelli, S; Fraquelli, M; Sardini, C; Vasta, F; Gasparini, P
      Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene

      NEW ENGLAND JOURNAL OF MEDICINE
    41. Zavaroni, I; Bonini, L; Gasparini, P; Barilli, AL; Zuccarelli, A; Dall'Aglio, E; Delsignore, R; Reaven, GM
      Hyperinsulinemia in a normal population as a predictor of non-insulin-dependent diabetes mellitus, hypertension, and coronary heart disease: The barilla factory revisited

      METABOLISM-CLINICAL AND EXPERIMENTAL
    42. Tiranti, V; Lamantea, E; Uziel, G; Zeviani, M; Gasparini, P; Marzella, R; Rocchi, M; Fried, M
      Leigh syndrome transmitted by uniparental disomy of chromosome 9

      JOURNAL OF MEDICAL GENETICS
    43. Beauchamp-Nicoud, A; Schischmanoff, PO; Alloisio, N; Boivin, P; Parsons, SF; Mielot, F; Tchernia, G; Legrand, A; del Giudice, EM; Gasparini, P; Iolascon, A; Wickramasinghe, SN; Delaunay, J
      Suppression of CDA II expression in a homozygote

      BRITISH JOURNAL OF HAEMATOLOGY
    44. Iolascon, A; Stewart, GW; Ajetunmobi, JF; Perrotta, S; Delaunay, J; Carella, M; Zelante, L; Gasparini, P
      Familial pseudohyperkalemia maps to the same locus as dehydrated hereditary stomatocytosis (hereditary xerocytosis)

      BLOOD
    45. Roetto, A; Totaro, A; Cazzola, M; Cicilano, M; Bosio, S; D'Ascola, G; Carella, M; Zelante, L; Kelly, AL; Cox, TM; Gasparini, P; Camaschella, C
      Juvenile hemochromatosis locus maps to chromosome 1q

      AMERICAN JOURNAL OF HUMAN GENETICS
    46. MELCHIONDA S; SERI M; CARELLA M; PIEMONTESE MR; ZHANG XX; ZELANTE L; ROMEO G; GASPARINI P
      LINKAGE ANALYSIS IN 2 LARGE ITALIAN PEDIGREES AFFECTED WITH NAIL-PATELLA SYNDROME

      European journal of human genetics
    47. TOTARO A; ROETTO A; ROMMENS JM; GRIFA A; CARELLA M; DAGRUMA L; VALENTINO MA; DAMBROSIO L; CICILANO M; CAMASCHELLA C; FRANCO B; GASPARINI P
      GENERATION OF A TRANSCRIPTION MAP OF A 1 MBASE REGION CONTAINING THE HFE GENE (6P22)

      European journal of human genetics
    48. GASPARINI P; STANZIALE P; BISCEGLIA L; PRATO G; RESTAGNO G; FORTINA P; BANCHIERI N; ARBUSTINI E; ZELANTE L
      A NEONATAL PILOT SCREENING OF CYSTIC-FIBROSIS IN ITALY BASED ON OLA-PCR TECHNIQUE

      European journal of human genetics
    49. BISCEGLIA L; DAMBROSIO L; PIEMONTESE MR; CARELLA M; AMATI P; BONNEAU D; PILIA G; GASPARINI P; ZELANTE L
      MOLECULAR-GENETICS OF EPHAROPHIMOSIS-PTOSIS-EPICANTHUS-INVERSUS-SYNDROME (BPES) - LOCUS REFINEMENT AND EXCLUSION OF CANDIDATE GENES

      European journal of human genetics
    50. TOTARO A; CARELLA M; GRIFA A; VALENTINO MA; GASPARINI P; ZELANTE L; DELGIUDICE EM; DELAUNAY J; PERROTTA S; IOLASCON A
      REFINEMENT OF CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE-II LOCUS ON CHROMOSOME-20

      European journal of human genetics
    51. DAGRUMA L; BISCEGLIA L; GASPARINI P; ZELANTE L; IOLASCON A; IOLASCON G; COLAPIETRO F; FURLAN F; BERTOLDO F
      MOLECULAR-GENETICS OF OSTEOPOROSIS IN ITALY

      European journal of human genetics
    52. ROETTO A; CICILANO M; BOSIO S; TOTARO A; CARELLA M; GRIFA A; CAMASCHELLA C; GASPARINI P
      SEARCH FOR CANDIDATE GENES OF JUVENILE HEMOCHROMATOSIS, A DISORDER DISTINCT FROM ADULT HEMOCHROMATOSIS

      European journal of human genetics
    53. GASPARINI P; FORTINA P; SURREY S; RABIONET R; MELCHIONDA S; DAGRUMA L; RAPPAPORT E; GOVEA N; MILA MM; ZELANTE L; ESTIVILL X
      MUTATION 35DELG IN THE CONNEXIN-26 GENE IS THE MAJOR CAUSE OF SPORADIC AND FAMILIAL CONGENITAL DEAFNESS IN MEDITERRANEAN PATIENTS

      European journal of human genetics
    54. Lauteala, T; Mykkanen, J; Sperandeo, MP; Gasparini, P; Savontaus, ML; Simell, O; Andria, G; Sebastio, G; Aula, P
      Genetic homogeneity of lysinuric protein intolerance

      EUROPEAN JOURNAL OF HUMAN GENETICS
    55. CAPUANO P; DELUCA G; DISENA F; GASPARINI P; SCARPA R
      THE DENSITY OF THE ROCK COVERING GRAN-SASSO LABORATORIES IN CENTRAL APENNINES, ITALY BY UNDERGROUND GRAVITY MEASUREMENTS

      Journal of applied geophysics
    56. BISCEGLIA L; DAMBROSIO L; PIEMONTESE MR; CARELLA M; AMATI P; BONNEAU D; PILIA G; GASPARINI P; ZELANTE L
      CELLULAR RETINOL-BINDING PROTEIN-1 (RBP1) - A FREQUENT POLYMORPHISM, REFINED MAP POSITION AND EXCLUSION AS THE BLEPHAROPHIMOSIS-PTOSIS-EPICANTHUS-INVERSUS SYNDROME GENE

      Molecular and cellular probes
    57. ZOLLO A; GASPARINI P; VIRIEUX J; BIELLA G; BOSCHI E; CAPUANO P; DEFRANCO R; DELLAVERSANA P; DEMATTEIS R; DENATALE G; IANNACCONE G; GUERRA I; LEMEUR H; MIRABILE L
      AN IMAGE OF MT. VESUVIUS OBTAINED BY 2D SEISMIC TOMOGRAPHY

      Journal of volcanology and geothermal research
    58. TIRANTI V; DAGRUMA L; PAREYSON D; MORA M; CARRARA F; ZELANTE L; GASPARINI P; ZEVIANI M
      A NOVEL MUTATION IN THE MITOCHONDRIAL TRNA(VAL) GENE ASSOCIATED WITH A COMPLEX NEUROLOGICAL PRESENTATION

      Annals of neurology
    59. PIETRANGELO A; MONTOSI G; GARUTI C; CONTE D; FRAQUELLI M; GASPARINI P
      NO HFE, NO HLA, NO 6P-LINKED ADULT HEMOCHROMATOSIS - A NEW GENETIC IRON OVERLOAD CONDITION

      Hepatology
    60. ANNESE V; PIEPOLI A; ANDRIULLI A; NAPOLITANO G; BISCEGLIA L; ZELANTE L; GASPARINI P
      POLYMORPHISM OF MOTILIN GENE IN PATIENTS WITH CROHNS-DISEASE

      Digestive diseases and sciences
    61. ESTIVILL X; FORTINA P; SURREY S; RABIONET R; MELCHIONDA S; DAGRUMA L; MANSFIELD E; RAPPAPORT E; GOVEA N; MILA M; ZELANTE L; GASPARINI P
      CONNEXIN-26 MUTATIONS IN SPORADIC AND INHERITED SENSORINEURAL DEAFNESS

      Lancet
    62. Gasparini, P
      The Italian words ecografia and topografia

      LINGUA NOSTRA
    63. GASPARINI P; DEFAZIO A; CROCE AI; STANZIALE P; ZELANTE L
      USHER-SYNDROME TYPE-III (USH3) LINKED TO CHROMOSOME 3Q IN AN ITALIAN FAMILY

      Journal of Medical Genetics
    64. ZAVARONI I; ZUCCARELLI A; GASPARINI P; MASSIRONI P; BARILLI A; REAVEN GM
      CAN WEIGHT-GAIN IN HEALTHY, NONOBESE VOLUNTEERS BE PREDICTED BY DIFFERENCES IN BASE-LINE PLASMA-INSULIN CONCENTRATION

      The Journal of clinical endocrinology and metabolism
    65. PIPERNO A; SAMPIETRO M; PIETRANGELO A; AROSIO C; LUPICA L; MONTOSI G; VERGANI A; FRAQUELLI M; GIRELLI D; PASQUERO P; ROETTO A; GASPARINI P; FARGION S; CONTE D; CAMASCHELLA C
      HETEROGENEITY OF HEMOCHROMATOSIS IN ITALY

      Gastroenterology
    66. ZAVARONI I; MONTI L; MASSIRONI P; ZUCCARELLI A; GASPARINI P; BARILLI A; VALSECCHI G; PHAN VC; PONTIROLI AE; PIATTI PM
      INSULIN-RESISTANCE AND INDEXES OF ENDOTHELIAL FUNCTION - THE BARILLA STUDY

      Diabetologia
    67. IOLASCON A; DELGIUDICE EM; PERROTTA S; NOBILI B; ZELANTE L; GRANATIERO M; MELCHIONDA S; DELAUNAY J; GASPARINI P
      CHROMOSOMAL LOCALIZATION OF CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE-II (CDA-II)

      British Journal of Haematology
    68. IOLASCON A; DEMATTIA D; PERROTTA S; CARELLA M; GASPARINI P; DELILIERS GL
      GENETIC-HETEROGENEITY OF CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE-II

      Blood
    69. TOTARO A; GRIFA A; CARELLA M; ROMMENS JM; VALENTINO MA; ROETTO A; ZELANTE L; GASPARINI P
      CLONING OF A NEW GENE (FB19) WITHIN HLA CLASS-I REGION

      Biochemical and biophysical research communications (Print)
    70. GRIFA A; TOTARO A; ROMMENS JM; CARELLA M; ROETTO A; BORGATO L; ZELANTE L; GASPARINI P
      GABA (GAMMA-AMINOBUTYRIC-ACID) NEUROTRANSMISSION - IDENTIFICATION ANDFINE MAPPING OF THE HUMAN GABA(B) RECEPTOR GENE

      Biochemical and biophysical research communications (Print)
    71. SANTORELLI FM; BERTINI E; PETRUZZELLA V; DICAPUA M; CALVIERI S; GASPARINI P; ZEVIANI M
      A NOVEL INSERTION MUTATION (A(169I)) IN THE CLN1 GENE IS ASSOCIATED WITH INFANTILE NEURONAL CEROID-LIPOFUSCINOSIS IN AN ITALIAN PATIENT

      Biochemical and biophysical research communications
    72. CARELLA M; STEWART G; AJETUNMOBI JF; PERROTTA S; GROOTENBOER S; TCHERNIA G; DELAUNAY J; TOTARO A; ZELANTE L; GASPARINI P; IOLASCON A
      GENOMEWIDE SEARCH FOR DEHYDRATED HEREDITARY STOMATOCYTOSIS (HEREDITARY XEROCYTOSIS) - MAPPING OF LOCUS TO CHROMOSOME-16 (16Q23-QTER)

      American journal of human genetics
    73. STEPHENS JC; REICH DE; GOLDSTEIN DB; SHIN HD; SMITH MW; CARRINGTON M; WINKLER C; HUTTLEY GA; ALLIKMETS R; SCHRIML L; GERRARD B; MALASKY M; RAMOS MD; MORLOT S; TZETIS M; ODDOUX C; DIGIOVINE FS; NASIOULAS G; CHANDLER D; ASEEV M; HANSON M; KALAYDJIEVA L; GLAVAC D; GASPARINI P; KANAVAKIS E; CLAUSTRES M; KAMBOURIS M; OSTRER H; DUFF G; BARANOV V; SIBUL H; METSPALU A; GOLDMAN D; MARTIN N; DUFFY D; SCHMIDTKE J; ESTIVILL X; OBRIEN SJ; DEAN M
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      American journal of human genetics
    74. Tiranti, V; Hoertnagel, K; Carrozzo, R; Galimberti, C; Munaro, M; Granatiero, M; Zelante, L; Gasparini, P; Marzella, R; Rocchi, M; Bayona-Bafaluy, MP; Enriquez, JA; Uziel, G; Bertini, E; Dionisi-Vici, C; Franco, B; Meitinger, T; Zeviani, M
      Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

      AMERICAN JOURNAL OF HUMAN GENETICS
    75. 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
    76. DELLOSTROLOGO L; CARBONARI D; GALLUCCI M; GASPARINI P; BISCEGLIA L; ZELANTE L; ROSAUD F; NUNES V; PALACIN M; RIZZONI G
      INTERFAMILIAL AND INTRAFAMILIAL CLINICAL VARIABILITY IN PATIENTS WITHCYSTINURIA TYPE-I AND IDENTIFIED MUTATION

      Journal of the American Society of Nephrology
    77. CAMASCHELLA C; ROETTO A; CICILANO M; PASQUERO P; BOSIO S; GUBETTA L; DIVITO F; GIRELLI D; TOTARO A; CARELLA M; GRIFA A; GASPARINI P
      JUVENILE AND ADULT HEMOCHROMATOSIS ARE DISTINCT GENETIC-DISORDERS

      European journal of human genetics
    78. PIEMONTESE MR; MEMEO E; CARELLA M; AMATI P; CHOMEL JC; BONNEAU D; PILIA G; CAO A; DRABKIN H; GEMMILL R; ROMMENS J; ZELANTE L; GASPARINI P; BISCEGLIA L
      A YAC CONTIG SPANNING THE BLEPHAROPHIMOSIS-PTOSIS-EPICANTHUS INVERSUSSYNDROME AND PROPIONIC ACIDEMIA LOCI

      European journal of human genetics
    79. GASPARINI P; ESTIVILL X; VOLPINI V; TOTARO A; CASTELLVIBEL S; GOVEA N; MILA M; DELLAMONICA M; VENTRUTO V; DEBENEDETTO M; STANZIALE P; ZELANTE L; MANSFIELD ES; SANDKUIJL L; SURREY S; FORTINA P
      LINKAGE OF DFNB1 TO NON-SYNDROMIC NEUROSENSORY AUTOSOMAL-RECESSIVE DEAFNESS IN MEDITERRANEAN FAMILIES

      European journal of human genetics
    80. ZELANTE L; GASPARINI P; ESTIVILL X; MELCHIONDA S; DAGRUMA L; GOVEA N; MILA M; DELLAMONICA M; LUTFI J; SHOHAT M; MANSFIELD E; DELGROSSO K; RAPPAPORT E; SURREY S; FORTINA P
      CONNEXIN26 MUTATIONS ASSOCIATED WITH THE MOST COMMON FORM OF NON-SYNDROMIC NEUROSENSORY AUTOSOMAL RECESSIVE DEAFNESS (DFNB1) IN MEDITERRANEANS

      Human molecular genetics
    81. ROETTO A; CICILANO M; GOTTARDI E; TOTARO A; CARELLA M; GASPARINI P; CAMASCHELLA C
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      Molecular and cellular probes
    82. TOTARO A; GRIFA A; CARELLA M; DAMBROSIO L; VALENTINO M; ROTH MP; BOROT N; COPPIN H; ROETTO A; CAMASCHELLA C; GASPARINI P
      HEREDITARY HEMOCHROMATOSIS - A HPAL POLYMORPHISM WITHIN THE HLA-H GENE

      Molecular and cellular probes
    83. SONCINI M; BONFARDECI C; GASPARINI P; TOSCHI V; MOTTA A; CIMMINIELLO C
      PERSISTENT ACTIVATION OF BLOOD-COAGULATION IN PATIENTS WITH ISCHEMIC STROKE

      Thrombosis and haemostasis
    84. PELLICANO R; LOMUTO M; CIAVARELLA G; DIGIORGIO G; GASPARINI P
      FIXED DRUG ERUPTIONS WITH FEPRAZONE ARE LINKED TO HLA-B22

      Journal of the American Academy of Dermatology
    85. ZELANTE L; GASPARINI P; SCANDERBEG AC; DIMITRI L; CRICONIA M; GORLIN RJ
      GOLDENHAR COMPLEX - A FURTHER CASE WITH UNCOMMON ASSOCIATED ANOMALIES

      American journal of medical genetics
    86. GENUARDI M; GASPARINI P; NERI G; ZELANTE L
      LIMB-PELVIS HYPOPLASIA APLASIA - A DISCRETE ENTITY IN THE FIBULOULNARDEVELOPMENTAL FIELD COMPLEX/

      American journal of medical genetics
    87. RIZZONI G; DELLOSTROLOGO L; GASPARINI P; ZELANTE L; BISCEGLIA L; NUNES V; PALACIN M
      RECENT DATA ON CYSTINURIA

      Annales de pediatrie
    88. PELLICANO R; LOMUTO M; CALABRESE P; DESIMONE C; GASPARINI P
      MOLECULAR STUDY IN FAMILIES WITH FIXED DRUG ERUPTIONS

      Journal of investigative dermatology
    89. DECLERCQ P; PEETERS M; CHEYNS K; DEPOORTERE I; GASPARINI P; RUTGEERTS P; PEETERS TL
      DNA POLYMORPHISM IN THE HUMAN MOTILIN GENE IN INFLAMMATORY BOWEL-DISEASE

      Gastroenterology
    90. CALVANO S; MEMEO E; PIEMONTESE MR; MELCHIONDA S; BISCEGLIA L; GASPARINI P; ZELANTE L
      DETECTION OF DYSTROPHIN DELETION CARRIERS USING FISH ANALYSIS

      Clinical genetics
    91. ZELANTE L; DALLAPICCOLA B; CALVANO S; MEMEO E; GASPARINI P; SIMI P; ROSSI S; FINELLI P; ROCCHI M; ARCHIDIACONO N
      2 MOSAIC-YY MALES CARRYING ASYMMETRIC Y-CHROMOSOMES

      Clinical genetics
    92. GIRELLI D; CORROCHER R; BISCEGLIA L; OLIVIERI O; ZELANTE L; PANOZZO G; GASPARINI P
      HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME CAUSED BY A 29-BASE PAIR DELETION IN THE IRON-RESPONSIVE ELEMENT OF FERRITIN L-SUBUNIT GENE

      Blood
    93. IOLASCON A; DELGIUDICE EM; PERROTTA S; CARBONE R; DELAUNAY J; GRANATIERO M; MELCHIONDA S; ZELANTE L; GASPARINI P
      LOCALIZATION OF CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE-II (CDAII) GENE ON THE LONG ARM OF CHROMOSOME-20

      Blood
    94. GIRELLI D; LEVI S; PASTI M; BEAUMONT C; OLIVIERI O; PERRONE F; GASPARINI P; CORROCHER R; AROSIO P
      PATHOPHYSIOLOGICAL MECHANISMS INVOLVED IN THE HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME - MOLECULAR AND FUNCTIONAL-CHARACTERIZATION OFTHE ISOFERRITINS PRODUCED BY CULTURED-CELLS AND BIOCHEMICAL-ANALYSIS OF THE LENS

      Blood
    95. CAMASCHELLA C; ROETTO A; CICILANO M; BOSIO S; GUBETTA L; GIRELLI D; TOTARO A; CARELLA M; GRIFA A; GASPARINI P
      JUVENILE HEMOCHROMATOSIS IS A DISEASE UNRELATED TO HEMOCHROMATOSIS AND UNLINKED TO 6P

      Blood
    96. IOLASCON A; DELGIUDICE EM; PERROTTA S; GRANATIERO M; ZELANTE L; GASPARINI P
      EXCLUSION OF 3 CANDIDATE GENES AS DETERMINANTS OF CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE-II (CDA-II)

      Blood
    97. 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
    98. GASPARINI P; CALVANO S; MEMEO E; BISCEGLIA L; ZELANTE L
      ASSIGNMENT OF FERRITIN L GENE (FTL) TO HUMAN-CHROMOSOME BAND 19Q13.3 BY IN-SITU HYBRIDIZATION

      Annales de genetique
    99. ROETTO A; SBAIZ L; BOSIO S; PIPERNO A; FARGION S; CARELLA M; TOTARO A; GRIFA A; GASPARINI P; CAMASCHELLA C
      A RECOMBINATION EVENT CLOSE TO HFE GENE IN HEREDITARY HEMOCHROMATOSIS

      Annales de genetique
    100. GASPARINI P; DELGIUDICE EM; DELAUNAY J; TOTARO A; GRANATIERO M; MELCHIONDA S; ZELANTE L; IOLASCON A
      LOCALIZATION OF THE CONGENITAL DYSERYTHROPOIETIC ANEMIA-II LOCUS TO CHROMOSOME 20Q11.2 BY GENOMEWIDE SEARCH

      American journal of human genetics


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Documento generato il 20/01/21 alle ore 15:28:50