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    1. Park, RJ; Bolton, PF
      Pervasive developmental disorder and obstetric complications in children and adolescents with tuberous sclerosis

      AUTISM
    2. Mizuguchi, M; Takashima, S
      Neuropathology of tuberous sclerosis

      BRAIN & DEVELOPMENT
    3. Catania, MG; Johnson, MW; Liau, LM; Krelllen, TJ; deVellis, JS; Vinters, HV
      Hamartin expression and interaction with tuberin in tumor cell lines and primary cultures

      JOURNAL OF NEUROSCIENCE RESEARCH
    4. Wataya-Kaneda, M; Kaneda, Y; Hino, O; Adachi, H; Hirayama, Y; Seyama, K; Satou, T; Yoshikawa, K
      Cells derived from tuberous sclerosis show a prolonged S phase of the cellcycle and increased apoptosis

      ARCHIVES OF DERMATOLOGICAL RESEARCH
    5. Becker, AJ; Lobach, M; Klein, H; Normann, S; Nothen, MM; von Deimling, A; Mizuguchi, M; Elger, CE; Schramm, J; Wiestler, OD; Blumcke, I
      Mutational analysis of TSC1 and TSC2 genes in gangliogliomas

      NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
    6. Vaughan, CJ; Veugelers, M; Basson, CT
      Tumors and the heart: molecular genetic advances

      CURRENT OPINION IN CARDIOLOGY
    7. Benit, P; Bonnefont, JP; Mostefa, AK; Francannet, C; Munnich, A; Ray, PF
      Denaturing high-performance liquid chromatography (DHPLC)-based prenatal diagnosis for tuberous sclerosis

      PRENATAL DIAGNOSIS
    8. Kobayashi, T; Minowa, O; Sugitani, Y; Takai, S; Mitani, H; Kobayashi, E; Noda, T; Hino, O
      A germ-line Tsc1 mutation causes tumor development and embryonic lethalitythat are similar, but not identical to, those caused by Tsc2 mutation in mice

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    9. Catania, MG; Mischel, PS; Vinters, HV
      Hamartin and tuberin interaction with the G2/M cyclin-dependent kinase CDK1 and its regulatory cyclins A and B

      JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
    10. Murthy, V; Stemmer-Rachamimov, AO; Haddad, LA; Roy, JE; Cutone, AN; Beauchamp, RL; Smith, N; Louis, DN; Ramesh, V
      Developmental expression of the tuberous sclerosis proteins tuberin and hamartin

      ACTA NEUROPATHOLOGICA
    11. Benit, P; Kara-Mostefa, A; Berthelon, M; Sengmany, K; Munnich, A; Bonnefont, JP
      Mutation analysis of the hamartin gene using denaturing high performance liquid chromatography

      HUMAN MUTATION
    12. Knoers, NVAM; Bongers, EMHF; van Beersum, SEC; Lommen, EJP; van Bokhoven, H; Hol, FA
      Nail-patella syndrome: Identification of mutations in the LMX1B gene in Dutch families

      JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
    13. Miloloza, A; Rosner, M; Nellist, I; Halley, D; Bernaschek, G; Hengstschlager, M
      The TSC1 gene product, hamartin, negatively regulates cell proliferation

      HUMAN MOLECULAR GENETICS
    14. Mayer, K; Ballhausen, W; Leistner, W; Rott, HD
      Three novel types of splicing aberrations in the tuberous sclerosis TSC2 gene caused by mutations apart from splice consensus sequences

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
    15. Munchau, A; Valente, EM; Davis, MB; Stinton, V; Wood, NW; Quinn, NP; Bhatia, KP
      A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia

      MOVEMENT DISORDERS
    16. Magoulas, C; Fried, M
      Isolation and genomic analysis of the human Surf-6 gene: a member of the Surfeit locus

      GENE
    17. Murthy, V; Haddad, LA; Smith, N; Pinney, D; Tyszkowski, R; Brown, D; Ramesh, V
      Similarities and differences in the subcellular localization of hamartin and tuberin in the kidney

      AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY
    18. Osborne, JP; Jones, AC; Burley, MW; Jeganathan, D; Young, J; O'Callaghan, FJ; Sampson, JR; Povey, S
      Non-penetrance in tuberous sclerosis

      LANCET
    19. Figueiredo, BC; Ribeiro, RC; Zambetti, G; Haddad, B; Pianovsky, MD; Pereira, RM; DeLacerda, L; Sandrini, R
      Amplification of 9q34 in childhood adrenocortical tumors: a specific feature unrelated to ethnic origin or living conditions

      BRAZILIAN JOURNAL OF MEDICAL AND BIOLOGICAL RESEARCH
    20. Bressman, SB; Sabatti, C; Raymond, D; de Leon, D; Klein, C; Kramer, PL; Brin, MF; Fahn, S; Breakefield, X; Ozelius, LJ; Risch, NJ
      The DYT1 phenotype and guidelines for diagnostic testing

      NEUROLOGY
    21. Carsillo, T; Astrinidis, A; Henske, EP
      Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    22. Mizuguchi, M; Takashima, S; Yamanouchi, H; Nakazato, Y; Mitani, H; Hino, O
      Novel cerebral lesions in the Eker rat model of tuberous sclerosis: Cortical tuber and anaplastic ganglioglioma

      JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
    23. O'Callaghan, FJK; Noakes, M; Osborne, JP
      Renal angiomyolipomata and learning difficulty in tuberous sclerosis complex

      JOURNAL OF MEDICAL GENETICS
    24. Paine, MJI; Garner, AP; Powell, D; Sibbald, J; Sales, M; Pratt, N; Smith, T; Tew, DG; Wolf, CR
      Cloning and characterization of a novel human dual flavin reductase

      JOURNAL OF BIOLOGICAL CHEMISTRY
    25. Pasumarthi, KBS; Nakajima, H; Nakajima, HO; Jing, SL; Field, LJ
      Enhanced cardiomyocyte DNA synthesis during myocardial hypertrophy in miceexpressing a modified TSC2 transgene

      CIRCULATION RESEARCH
    26. O'Callaghan, FJ; Osborne, JP
      Advances in the understanding of tuberous sclerosis

      ARCHIVES OF DISEASE IN CHILDHOOD
    27. Mizuguchi, M; Ikeda, K; Takashima, S
      Simultaneous loss of hamartin and tuberin from the cerebrum, kidney and heart with tuberous sclerosis

      ACTA NEUROPATHOLOGICA
    28. Mayer, K; Ballhausen, W; Rott, HD
      Mutation screening of the entire coding regions of the TSC1 and the TSC2 gene with the protein truncation test PTT identifies frequent splicing defects

      HUMAN MUTATION
    29. Niida, Y; Lawrence-Smith, N; Banwell, A; Hammer, E; Lewis, J; Beauchamp, RL; Sims, K; Ramesh, VL; Ozelius, L
      Analysis of both TCS1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis

      HUMAN MUTATION
    30. Benit, P; Kara-Mostefa, A; Hadj-Rabia, S; Munnich, A; Bonnefont, JP
      Protein truncation test for screening hamartin gene mutations and report of new disease-causing mutations

      HUMAN MUTATION
    31. Johnson, MW; Emelin, JK; Park, SH; Vinters, HV
      Co-localization of TSC1 and TSG2 gene products in tubers of patients with tuberous sclerosis

      BRAIN PATHOLOGY
    32. Gilley, J; Fried, M
      Extensive gene order differences within regions of conserved synteny between the Fugu and human genomes: implications for chromosomal evolution and the cloning of disease genes

      HUMAN MOLECULAR GENETICS
    33. O'Callaghan, FJK
      Tuberous sclerosis - Epidemiological research is needed to complement new findings in genetics.

      BRITISH MEDICAL JOURNAL
    34. Hornigold, N; Devlin, J; Davies, AM; Aveyard, JS; Habuchi, T; Knowles, MA
      Mutation of the 9q34 gene TSC1 in sporadic bladder cancer

      ONCOGENE
    35. Plank, TL; Logginidou, H; Klein-Szanto, A; Henske, EP
      The expression of hamartin, the product of the TSC1 gene, in normal human tissues and in TSC1- and TSC2-linked angiomyolipomas

      MODERN PATHOLOGY
    36. Vinters, HV; Park, SH; Johnson, MW; Mischel, PS; Catania, M; Kerfoot, C
      Cortical dysplasia, genetic abnormalities and neurocutaneous syndromes

      DEVELOPMENTAL NEUROSCIENCE
    37. Keller, MP; Seifried, BA; Rabin, BA; Chance, PF
      Mapping of the kinesin-related gene ATSV to chromosome 2q37

      HUMAN GENETICS
    38. Brackley, KJ; Farndon, PA; Weaver, JB; Dow, DJ; Chapman, S; Kilby, MD
      Prenatal diagnosis of tuberous sclerosis with intracerebral signs at 14 weeks' gestation

      PRENATAL DIAGNOSIS
    39. Debiec-Rychter, M; Jesionek-Kupnicka, D; Zakrzewski, K; Liberski, PP
      Cytogenetic changes in two cases of subependymal giant-cell astrocytoma

      CANCER GENETICS AND CYTOGENETICS
    40. Milot, J; Michaud, J; Lemieux, N; Allaire, G; Gagnon, MM
      Persistent hyperplastic primary vitreous with retinal tumor in tuberous sclerosis - Report of a case including tumoral immunohistochemistry and cytogenetic analyses

      OPHTHALMOLOGY
    41. Smith, M; Sperling, D
      Novel 23-base-pair duplication mutation in TSC1 exon 15 in an infant presenting with cardiac rhabdomyomas

      AMERICAN JOURNAL OF MEDICAL GENETICS
    42. Limborska, SA
      Human molecular genetics: Medical-genetic and population studies

      MOLECULAR BIOLOGY
    43. Slominsky, A
      Molecular-genetic analysis of hereditary neurological diseases

      MOLECULAR BIOLOGY
    44. van Slegtenhorst, M; Verhoef, S; Tempelaars, A; Bakker, L; Wang, Q; Wessels, M; Bakker, R; Nellist, M; Lindhout, D; Halley, D; van den Ouweland, A
      Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosiscomplex patients: no evidence for genotype-phenotype correlation

      JOURNAL OF MEDICAL GENETICS
    45. Uysal, H; Hemming, FW
      Changes in the expression and distribution of fibronectin, laminin and tenascin by cultured fibroblasts from skin lesions of patients with tuberous sclerosis

      BRITISH JOURNAL OF DERMATOLOGY
    46. Lebre, AS; Durr, A; Jedynak, P; Ponsot, G; Vidailhet, M; Agid, Y; Brice, A
      DYT1 mutation in French families with idiopathic torsion dystonia

      BRAIN
    47. YOUNG J; POVEY S
      THE GENETIC-BASIS OF TUBEROUS SCLEROSIS

      Molecular medicine today
    48. TEH BT; BLENNOW E; GIRAUD S; SAHLEN S; HII SI; BROOKWELL R; NORDENSKJOLD HM; LARSSON C; NICOL D
      BILATERAL MULTIPLE RENAL ONCOCYTOMAS AND CYSTS ASSOCIATED WITH A CONSTITUTIONAL TRANSLOCATION (8-9)(Q24.1-Q34.3) AND A RARE CONSTITUTIONAL VHL MISSENSE SUBSTITUTION

      Genes, chromosomes & cancer
    49. 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
    50. KLEIN C; BRIN MF; DELEON D; LIMBORSKA SA; IVANOVASMOLENSKAYA IA; BRESSMAN SB; FRIEDMAN A; MARKOVA ED; RISCH NJ; BREAKEFIELD XO; OZELIUS LJ
      DE-NOVO MUTATIONS (GAG DELETION) IN THE DYT1 GENE IN 2 NON-JEWISH PATIENTS WITH EARLY-ONSET DYSTONIA

      Human molecular genetics (Print)
    51. EKONG R; WOLFER J
      ADVANCES IN FLUORESCENT IN-SITU HYBRIDIZATION

      Current opinion in biotechnology
    52. Roach, ES; Gomez, MR; Northrup, H
      Tuberous sclerosis complex consensus conference: Revised clinical diagnostic criteria

      JOURNAL OF CHILD NEUROLOGY
    53. KLEIN C; PRAMSTALLER PP; CASTELLAN CC; BREAKEFIELD XO; KRAMER PL; OZELIUS LJ
      CLINICAL AND GENETIC EVALUATION OF A FAMILY WITH A MIXED DYSTONIA PHENOTYPE FROM SOUTH TYROL

      Annals of neurology
    54. GUERREIRO MM; ANDERMANN F; ANDERMANN E; PALMINI A; HWANG P; HOFFMAN HJ; OTSUBO H; BASTOS A; DUBEAU F; SNIPES GJ; OLIVIER A; RASMUSSEN T
      SURGICAL-TREATMENT SF EPILEPSY IN TUBEROUS SCLEROSIS - STRATEGIES ANDRESULTS IN 18 PATIENTS

      Neurology
    55. EWALT DH; SHEFFIELD E; SPARAGANA SP; DELGADO MR; ROACH ES
      RENAL LESION GROWTH IN CHILDREN WITH TUBEROUS SCLEROSIS COMPLEX

      The Journal of urology
    56. ALI JBM; SEPP T; WARD S; GREEN AJ; YATES JRW
      MUTATIONS IN THE TSC1 GENE ACCOUNT FOR A MINORITY OF PATIENTS WITH TUBEROUS SCLEROSIS

      Journal of Medical Genetics
    57. PLANK TL; YEUNG RS; HENSKE EP
      HAMARTIN, THE PRODUCT OF THE TUBEROUS SCLEROSIS-1 (TSC1) GENE, INTERACTS WITH TUBERIN AND APPEARS TO BE LOCALIZED TO CYTOPLASMIC VESICLES

      Cancer research
    58. DELGADO R; BOJORGE BD; ALBORESSAAVEDRA J
      ATYPICAL ANGIOMYOLIPOMA OF THE KIDNEY - A DISTINCT MORPHOLOGIC VARIANT THAT IS EASILY CONFUSED WITH A VARIETY OF MALIGNANT NEOPLASMS

      Cancer
    59. ALSALEEM T; WESSNER LL; SCHEITHAUER BW; PATTERSON K; ROACH ES; DREYER SJ; FUJIKAWA K; BJORNSSON J; BERNSTEIN J; HENSKE EP
      MALIGNANT-TUMORS OF THE KIDNEY, BRAIN, AND SOFT-TISSUES IN CHILDREN AND YOUNG-ADULTS WITH THE TUBEROUS SCLEROSIS COMPLEX

      Cancer
    60. Valente, EM; Warner, TT; Jarman, PR; Mathen, D; Fletcher, NA; Marsden, CD; Bhatia, KP; Wood, NW
      The role of DYT1 in primary torsion dystonia in Europe

      BRAIN
    61. YOUNG JM; BURLEY MW; JEREMIAH SJ; JEGANATHAN D; EKONG R; OSBORNE JP; POVEY S
      A MUTATION SCREEN OF THE TSC1 GENE REVEALS 26 PROTEIN TRUNCATING MUTATIONS AND 1 SPLICE-SITE MUTATION IN A PANEL OF 79 TUBEROUS SCLEROSIS PATIENTS

      Annals of Human Genetics
    62. Kwiatkowska, J; Jozwiak, S; Hall, F; Henske, EP; Haines, JL; McNamara, P; Braiser, J; Wigowska-Sowinska, J; Kasprzyk-Obara, J; Short, MP; Kwiatkowski, DJ
      Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance

      ANNALS OF HUMAN GENETICS
    63. BOWEN J; BEASLEY SW
      RARE PULMONARY MANIFESTATIONS OF TUBEROUS SCLEROSIS IN CHILDREN

      Pediatric pulmonology
    64. YATES JRW; VANBAKEL I; SEPP T; PAYNE SJ; WEBB DW; NEVIN NC; GREEN AJ
      FEMALE GERMLINE MOSAICISM IN TUBEROUS SCLEROSIS CONFIRMED BY MOLECULAR-GENETIC ANALYSIS

      Human molecular genetics
    65. HORNIGOLD N; VANSLEGTENHORST M; NAHMIAS J; EKONG R; ROUSSEAUX S; HERMANS C; HALLEY D; POVEY S; WOLFE J
      A 1.7-MEGABASE SEQUENCE-READY COSMID CONTIG COVERING THE TSC1 CANDIDATE REGION IN 9Q34

      Genomics
    66. ALMASY L; BRESSMAN S; DELEON D; RISCH N
      ETHNIC VARIATION IN THE CLINICAL EXPRESSION OF IDIOPATHIC TORSION DYSTONIA

      Movement disorders
    67. MICHALET X; EKONG R; FOUGEROUSSE F; ROUSSEAUX S; SCHURRA C; HORNIGOLD N; VANSLEGTENHORST M; WOLFE J; POVEY S; BECKMANN JS; BENSIMON A
      DYNAMIC MOLECULAR COMBING - STRETCHING THE WHOLE HUMAN GENOME FOR HIGH-RESOLUTION STUDIES

      Science
    68. BRESSMAN SB; DELEON D; RAYMOND D; GREENE PE; BRIN MF; FAHN S; OZELIUS LJ; BREAKEFIELD XO; KRAMER PL; RISCH NJ
      SECONDARY DYSTONIA AND THE DYTI GENE

      Neurology
    69. GILLEY J; ARMES N; FRIED M
      FUGU GENOME IS NOT A GOOD MAMMALIAN MODEL

      Nature
    70. WOLFE J; JEREMIAH S; YOUNG J; BURLEY MW; STEWART H; MCCULLEY M; GRANT C; NAZ K; POVEY S
      MAPPING ESTS TO THE TSC1 CANDIDATE INTERVAL BY USE OF THE SCIENCE-96 TRANSCRIPT MAP

      Annals of Human Genetics
    71. MENCHINE M; EMELIN JK; MISCHEL PS; HAAG TA; NORMAN MG; PEPKOWITZ SH; WELSH CT; TOWNSEND JT; VINTERS HV
      TISSUE AND CELL-TYPE-SPECIFIC EXPRESSION OF THE TUBEROUS SCLEROSIS GENE, TSC2, IN HUMAN TISSUES

      Modern pathology
    72. BRESSMAN SB; WARNER TT; ALMASY L; UITTI RJ; GREEN PE; HEIMAN GA; RAYMOND D; FORD B; DELEON D; FAHN S; KRAMER PL; RISCH NJ; MARAGANORE DM; NYGAARD TG; HARDING AE
      EXCLUSION OF THE DYT1 LOCUS IN FAMILIAL TORTICOLLIS

      Annals of neurology
    73. CURATOLO P
      NEUROLOGICAL MANIFESTATIONS OF TUBEROUS SCLEROSIS COMPLEX

      Child's nervous system
    74. SEPP T; YATES JRW; GREEN AJ
      LOSS OF HETEROZYGOSITY IN TUBEROUS SCLEROSIS HAMARTOMAS

      Journal of Medical Genetics
    75. WEBB DW; CLARKE A; FRYER A; OSBORNE JP
      THE CUTANEOUS FEATURES OF TUBEROUS SCLEROSIS - A POPULATION STUDY

      British journal of dermatology
    76. BJORNSSON J; SHORT MP; KWIATKOWSKI DJ; HENSKE EP
      TUBEROUS SCLEROSIS-ASSOCIATED RENAL-CELL CARCINOMA - CLINICAL, PATHOLOGICAL, AND GENETIC FEATURES

      The American journal of pathology
    77. HENSKE EP; SCHEITHAUER BW; SHORT MP; WOLLMANN R; NAHMIAS J; HORNIGOLD N; VANSLEGTENHORST M; WELSH CT; KWIATKOWSKI DJ
      ALLELIC LOSS IS FREQUENT IN TUBEROUS SCLEROSIS KIDNEY LESIONS BUT RARE IN BRAIN-LESIONS

      American journal of human genetics
    78. LILLINGTON DM; MACCALLUM PK; LISTER TA; GIBBONS B
      TRANSLOCATION T(6-9)(P23-Q34) IN ACUTE MYELOID-LEUKEMIA WITHOUT MYELODYSPLASIA OR BASOPHILIA - 2 CASES AND A REVIEW OF THE LITERATURE

      Leukemia


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Documento generato il 23/01/21 alle ore 06:56:16