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La ricerca find articoli where soggetti phrase all words 'GENETIC DISORDER' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 55 riferimenti
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    1. Bonnin, F; Lottmann, H; Sauty, L; Garel, C; Archambaud, F; Beaudouin, V; El Ghoneimi, A; Loirat, C; Bok, BD; Aigrain, Y
      Scintigraphic screening for renal damage in siblings of children with symptomatic primary vesico-ureteric reflux

      BJU INTERNATIONAL
    2. Zborovsky, SS; Misyurin, AV; Scherbinina, SP
      The first experience with genetic tests for inherited hemochromatosis in Russia

      GEMATOLOGIYA I TRANSFUZIOLOGIYA
    3. Bello-Reuss, E; Holubec, K; Rajarman, S
      Angiogenesis in autosomal-dominant polycystic kidney disease

      KIDNEY INTERNATIONAL
    4. Hyde, LA; Crnic, LS; Pollock, A; Bickford, PC
      Motor learning in Ts65Dn mice, a model for Down syndrome

      DEVELOPMENTAL PSYCHOBIOLOGY
    5. Jardim, LB; Pereira, ML; Silveira, I; Ferro, A; Sequeiros, J; Giugliani, R
      Neurologic findings in Machado-Joseph disease - Relation with disease duration, subtypes, and (CAG)(n)

      ARCHIVES OF NEUROLOGY
    6. Gaspar, C; Lopes-Cendes, I; Hayes, S; Goto, J; Arvidsson, K; Dias, A; Silveira, I; Maciel, P; Coutinho, P; Lima, M; Zhou, YX; Soong, BW; Watanabe, M; Giunti, P; Stevanin, G; Riess, O; Sasaki, H; Hsieh, M; Nicholson, GA; Brunt, E; Higgins, JJ; Lauritzen, M; Tranebjaerg, L; Volpini, V; Wood, N; Ranum, L; Tsuji, S; Brice, A; Sequeiros, J; Rouleau, GA
      Ancestral origins of the Machado-Joseph disease mutation: A worldwide haplotype study

      AMERICAN JOURNAL OF HUMAN GENETICS
    7. Kompf, J; Tomiuk, J; Feil, G; Lahme, S; Bichler, KH
      Induratio penis plastica and genetic variation of the alpha-1-antitrypsin locus

      AKTUELLE UROLOGIE
    8. Konig, A; Happle, R
      Two cases of type 2 segmental manifestation in a family with cutaneous leiomyomatosis

      EUROPEAN JOURNAL OF DERMATOLOGY
    9. Tierney, E; Nwokoro, NA; Kelley, RI
      Behavioral phenotype of RSH/Smith Lemli-Opitz syndrome

      MENTAL RETARDATION AND DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS
    10. Morisaki, H; Higuchi, I; Abe, M; Osame, M; Morisaki, T
      First missense mutations (R388W and R425H) of AMPD1 accompanied with myopathy found in a Japanese patient

      HUMAN MUTATION
    11. Miles, JH; Hillman, RE
      Value of a clinical morphology examination in autism

      AMERICAN JOURNAL OF MEDICAL GENETICS
    12. Cannon, SC
      Spectrum of sodium channel disturbances in the nondystrophic myotonias andperiodic paralyses

      KIDNEY INTERNATIONAL
    13. DeLisi, LE; Razi, K; Stewart, J; Relja, M; Shields, G; Smith, AB; Wellman, N; Larach, VW; Loftus, J; Vita, A; Comazzi, M; Crow, TJ
      No evidence for a parent-of-origin effect detected in the pattern of inheritance of schizophrenia

      BIOLOGICAL PSYCHIATRY
    14. Bellugi, U; Adolphs, R; Cassady, C; Chiles, M
      Towards the neural basis for hypersociability in a genetic syndrome

      NEUROREPORT
    15. Bacchelli, B; Quaglino, D; Gheduzzi, D; Taparelli, F; Boraldi, F; Trolli, B; Le Saux, O; Boyd, CD; Ronchetti, IP
      Identification of heterozygote carriers in families with a recessive form of pseudoxanthoma elasticum (PXE)

      MODERN PATHOLOGY
    16. Martini, A; Mazzoli, M
      Achievements of the European working Group on Genetics of Hearing Impairment

      INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
    17. Devlin, B; Roeder, K
      Genomic control for association studies

      BIOMETRICS
    18. RODIER PM; HYMAN SL
      EARLY ENVIRONMENTAL-FACTORS IN AUTISM

      Mental retardation and developmental disabilities research reviews
    19. BRAVERMAN AC
      EXERCISE AND THE MARFAN-SYNDROME

      Medicine and science in sports and exercise
    20. KNOWLES JA; FYER AJ; VIELAND VJ; WEISSMAN MM; HODGE SE; HEIMAN GA; HAGHIGHI F; DEJESUS GM; RASSNICK H; PREUDHOMMERIVELLI X; AUSTIN T; CUNJAK J; MICK S; FINE LD; WOODLEY KA; DAS K; MAIER W; ADAMS PB; FREIMER NB; KLEIN DF; GILLIAM TC
      RESULTS OF A GENOME-WIDE GENETIC SCREEN FOR PANIC DISORDER

      American journal of medical genetics
    21. LEES GE; HELMAN RG; KASHTAN CE; MICHAEL AF; HOMCO LD; MILLICHAMP NJ; NINOMIYA Y; SADO Y; NAITO I; KIM Y
      A MODEL OF AUTOSOMAL RECESSIVE ALPORT-SYNDROME IN ENGLISH COCKER-SPANIEL DOGS

      Kidney international
    22. KARMILOFFSMITH A; TYLER LK; VOICE K; SIMS K; UDWIN O; HOWLIN P; DAVIES M
      LINGUISTIC DISSOCIATIONS IN WILLIAMS-SYNDROME - EVALUATING RECEPTIVE SYNTAX IN ONLINE AND OFF-LINE TASKS

      Neuropsychologia
    23. LIMA M; COUTINHO P; ABADE A; VASCONCELOS J; MAYER FM
      CAUSES OF DEATH IN MACHADO-JOSEPH-DISEASE - A CASE-CONTROL STUDY IN THE AZORES (PORTUGAL)

      Archives of neurology
    24. SIVASUBRAMANIAM S; FOOKS A; LEE J; STACEY G; JENNINGS A
      GENE DELIVERY INTO NEURONAL AND GLIAL-CELLS BY USING A REPLICATION-DEFICIENT ADENOVIRUS VECTOR - PROSPECTS FOR NEUROLOGICAL GENE-THERAPY

      Cytotechnology
    25. SOONG BW; CHENG CH; LIU RS; SHAN DE
      MACHADO-JOSEPH-DISEASE - CLINICAL, MOLECULAR, AND METABOLIC CHARACTERIZATION IN CHINESE KINDREDS

      Annals of neurology
    26. MICHAELIS RC; SKINNER SA; DEASON R; SKINNER C; MOORE CL; PHELAN MC
      INTERSITIAL DELETION OF 20P - NEW CANDIDATE REGION FOR HIRSCHSPRUNG-DISEASE AND AUTISM

      American journal of medical genetics
    27. RUBIN DI; PATTERSON MC; WESTMORELAND BF; KLASS DW
      ANGELMANS SYNDROME - CLINICAL AND ELECTROENCEPHALOGRAPHIC FINDINGS

      Electroencephalography and clinical neurophysiology
    28. MACIEL P; LOPESCENDES I; KISH S; SEQUEIROS J; ROULEAU GA
      MOSAICISM OF THE CAG REPEAT IN CNS TISSUE IN RELATION TO AGE AT DEATHIN SPINOCEREBELLAR ATAXIA TYPE-1 AND MACHADO-JOSEPH-DISEASE PATIENTS

      American journal of human genetics
    29. LOPESCENDES I; MACIEL P; KISH S; GASPAR C; ROBITAILLE Y; CLARK HB; KOEPPEN AH; NANCE M; SCHUT L; SILVEIRA I; COUTINHO P; SEQUEIROS J; ROULEAU GA
      SOMATIC MOSAICISM IN THE CENTRAL-NERVOUS-SYSTEM IN SPINOCEREBELLAR ATAXIA TYPE-1 AND MACHADO-JOSEPH DISEASE

      Annals of neurology
    30. GRUPE S; DIETL G; SCHWERIN M
      POPULATION SURVEY OF CITRULLINEMIA ON GERMAN HOLSTEINS

      Livestock production science
    31. GINSBERG LE; JEWETT T; GRUB R; MCLEAN WT
      OCULODENTAL DIGITAL DYSPLASIA - NEUROIMAGING IN A KINDRED

      Neuroradiology
    32. EMERY E; REDONDO A; OUAHES O; BERTHELOT JL; BOUALI I; REY A
      RENDU-OSLER DISEASE AND NEUROSURGERY - 6 CASES AND LITERATURE-REVIEW

      Neuro-chirurgie
    33. MATSUMURA R; TAKAYANAGI T; FUJIMOTO Y; MURATA K; MANO Y; HORIKAWA H; CHUMA T
      THE RELATIONSHIP BETWEEN TRINUCLEOTIDE REPEAT LENGTH AND PHENOTYPIC VARIATION IN MACHADO-JOSEPH DISEASE

      Journal of the neurological sciences
    34. CHAN YM; CHENG J; GEDDEDAHL T; NIEMI KM; FUCHS E
      GENETIC-ANALYSIS OF A SEVERE CASE OF DOWLING-MEARA EPIDERMOLYSIS-BULLOSA SIMPLEX

      Journal of investigative dermatology
    35. BURK K; ABELE M; FETTER M; DICHGANS J; SKALEJ M; LACCONE F; DIDIERJEAN O; BRICE A; KLOCKGETHER T
      AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA TYPE-I - CLINICAL-FEATURES AND MRT IN FAMILIES WITH SCA1, SCA2 AND SCA3

      Brain
    36. LOPESCENDES I; SILVEIRA I; MACIEL P; GASPER C; RADVANY J; CHITAYAT D; BABUL R; STEWART J; DOLLIVER M; ROBITAILLE Y; ROULEAU GA; SEQUEIROS J
      LIMITS OF CLINICAL-ASSESSMENT IN THE ACCURATE DIAGNOSIS OF MACHADO-JOSEPH-DISEASE

      Archives of neurology
    37. DESTEFANO AL; CUPPLES LA; MACIEL P; GASPAR C; RADVANY J; DAWSON DM; SUDARSKY L; CORWIN L; COUTINHO P; MACLEOD P; SEQUEIROS J; ROULEAU GA; FARRER LA
      A FAMILIAL FACTOR-INDEPENDENT OF CAG REPEAT LENGTH INFLUENCES AGE AT ONSET OF MACHADO-JOSEPH DISEASE

      American journal of human genetics
    38. SUDARSKY L; COUTINHO P
      MACHADO-JOSEPH DISEASE

      Clinical neuroscience
    39. SUBRAMONY SH
      CLINICAL ASPECTS OF HEREDITARY ATAXIAS

      Journal of child neurology
    40. CARNEY JP; MCKNIGHT C; VANEPPS S; KELLEY MR
      RANDOM RAPID AMPLIFICATION OF CDNA ENDS (RRACE) ALLOWS FOR CLONING OFMULTIPLE NOVEL HUMAN CDNA FRAGMENTS CONTAINING (CAG)(N) REPEATS

      Gene
    41. LOSSOS A; BENHUR T; BENNARIAH Z; ENK C; GOMORI M; SOFFER D
      FAMILIAL SNEDDONS-SYNDROME

      Journal of neurology
    42. KINOSHITA A; HAYASHI M; ODA M; TANABE H
      CLINICOPATHOLOGICAL STUDY OF THE PERIPHERAL NERVOUS-SYSTEM IN MACHADO-JOSEPH DISEASE

      Journal of the neurological sciences
    43. HERMSDORFER J; DANEK A; WINTER T; MARQUARDT C; MAI N
      PERSISTENT MIRROR MOVEMENTS - FORCE AND TIMING OF MIRRORING ARE TASK-DEPENDENT

      Experimental Brain Research
    44. HOLOWNIA P; NEWMAN DJ; BRUNO C; LAGAMBA P; GERRITS M; SALEMINK G; OSSANI M; PRICE CP
      AUTOMATED DIBUCAINE NUMBER MEASUREMENT WITH DUPONT DIMENSION(R) ES AND AR ANALYZERS

      Clinical chemistry
    45. HAMVAS A; NOGEE LM; DEMELLO DE; COLE FS
      PATHOPHYSIOLOGY AND TREATMENT OF SURFACTANT PROTEIN-B DEFICIENCY

      Biology of the neonate
    46. MACIEL P; GASPAR C; DESTEFANO AL; SILVEIRA I; COUTINHO P; RADVANY J; DAWSON DM; SUDARSKY L; GUIMARAES J; LOUREIRO JEL; NEZARATI MM; CORWIN LI; LOPESCENDES I; ROOKE K; ROSENBERG R; MACLEOD P; FARRER LA; SEQUEIROS J; ROULEAU GA
      CORRELATION BETWEEN CAG REPEAT LENGTH AND CLINICAL-FEATURES IN MACHADO-JOSEPH DISEASE

      American journal of human genetics
    47. MANDE SC; MAINFROID V; KALK KH; GORAJ K; MARTIAL JA; HOL WGJ
      CRYSTAL-STRUCTURE OF RECOMBINANT HUMAN TRIOSEPHOSPHATE ISOMERASE AT 2.8 ANGSTROM RESOLUTION - TRIOSEPHOSPHATE ISOMERASE-RELATED HUMAN GENETIC-DISORDERS AND COMPARISON WITH THE TRYPANOSOMAL ENZYME

      Protein science
    48. GALABURDA AM; WANG PP; BELLUGI U; ROSSEN M
      CYTOARCHITECTONIC ANOMALIES IN A GENETICALLY BASED DISORDER - WILLIAMS-SYNDROME

      NeuroReport
    49. KREDA SM; FUJITA N; SUZUKI K
      EXPRESSION OF SPHINGOLIPID ACTIVATOR PROTEIN GENE IN BRAIN AND SYSTEMIC ORGANS OF DEVELOPING MICE

      Developmental neuroscience
    50. MATSUISHI T; SAKAI T; NAGAMITSU S; KOMORI H; IWASHITA H; KATO H
      DECREASED CEREBROSPINAL-FLUID LEVELS OF BETA-ENDORPHIN IN JAPANESE PATIENTS WITH JOSEPH DISEASE

      Annals of neurology
    51. STEFANATOS GA; MUSIKOFF H
      SPECIFIC NEUROCOGNITIVE DEFICITS IN CORNELIA-DE-LANGE-SYNDROME

      Journal of developmental and behavioral pediatrics
    52. LUMLEY MA; JORDAN M; RUBENSTEIN R; TSIPOURAS P; EVANS MI
      PSYCHOSOCIAL FUNCTIONING IN THE EHLERS-DANLOS SYNDROME

      American journal of medical genetics
    53. GOLDBERGSTERN H; DJALDETTI R; MELAMED E; GADOTH N
      MACHADO-JOSEPH (AZOREAN)-DISEASE IN A YEMENITE JEWISH FAMILY IN ISRAEL

      Neurology
    54. AZULAY JP; BLIN O; MESTRE D; SANGLA I; SERRATRICE G
      CONTRAST SENSITIVITY IMPROVEMENT WITH SULFAMETHOXAZOLE AND TRIMETHOPRIM IN A PATIENT WITH MACHADO-JOSEPH DISEASE WITHOUT SPASTICITY

      Journal of the neurological sciences
    55. BURT T; BLUMBERGS P; CURRIE B
      A DOMINANT HEREDITARY ATAXIA RESEMBLING MACHADO-JOSEPH DISEASE IN ARNHEM-LAND, AUSTRALIA

      Neurology


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/10/20 alle ore 09:27:19