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La ricerca find articoli where soggetti phrase all words 'HEREDITARY MULTIPLE EXOSTOSES' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 82 riferimenti
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    1. Jaeken, J; Matthijs, G
      Congenital disorders of glycosylation

      ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS
    2. Mizuno, K; Irie, S; Sato, TA
      Overexpression of EXTL3/EXTR1 enhances NF-kappa B activity induced by TNF-alpha

      CELLULAR SIGNALLING
    3. Bernard, MA; Hall, CE; Hogu, DA; Cole, WG; Scott, A; Snuggs, MB; Clines, GA; Ludecke, HJ; Lovett, M; Van Winkle, WB; Hecht, JT
      Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes

      CELL MOTILITY AND THE CYTOSKELETON
    4. Tani, A; Tsuchimochi, S; Nakabeppu, Y; Nakajo, M
      Bone and Tl-201 scintigraphy in a case of hereditary multiple exostoses

      CLINICAL NUCLEAR MEDICINE
    5. Mathysen, D; Wuyts, W; Bossuyt, PJ; Wauters, JG; Van Hul, W
      Assignment of the mouse Extl1 gene to the distal part of chromosome 4 by in situ hybridization and radiation hybrid mapping

      CYTOGENETICS AND CELL GENETICS
    6. Seki, H; Kubota, T; Ikegawa, S; Haga, N; Fujioka, F; Ohzeki, S; Wakui, K; Yoshikawa, H; Takaoka, K; Fukushima, Y
      Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses

      AMERICAN JOURNAL OF MEDICAL GENETICS
    7. Shaffer, LG
      Reply to the letter to the editor by Wuyts et al. - "Burning down DEFECT11"

      AMERICAN JOURNAL OF MEDICAL GENETICS
    8. Robinson, D; Hasharoni, A; Oganesian, A; Sandell, LJ; Yayon, A; Nevo, Z
      Role of FGF9 and FGF receptor 3 in osteochondroma formation

      ORTHOPEDICS
    9. Selva, EM; Perrimon, N
      Role of heparan sulfate proteoglycans in cell signaling and cancer

      ADVANCES IN CANCER RESEARCH, VOL 83
    10. Francannet, C; Cohen-Tanugi, A; Le Merrer, M; Munnich, A; Bonaventure, J; Legeai-Mallet, L
      Genotype-phenotype correlation in hereditary multiple exostoses

      JOURNAL OF MEDICAL GENETICS
    11. Kitagawa, H; Egusa, N; Tamura, J; Kusche-Gullberg, M; Lindahl, U; Sugahara, K
      rib-2, a Caenorhabditis elegans homolog of the human tumor suppressor EXT genes encodes a novel alpha 1,4-N-acetylglucosaminyltransferase involved inthe biosynthetic initiation and elongation of heparan sulfate

      JOURNAL OF BIOLOGICAL CHEMISTRY
    12. Blackhall, FH; Merry, CLR; Davies, EJ; Jayson, GC
      Heparan sulfate proteoglycans and cancer

      BRITISH JOURNAL OF CANCER
    13. Xia, CY; Wang, J; Zhang, SZ; Van Hul, W; Wuyts, W; Qiu, WM; Wu, H; Zhang, G
      A novel deletion mutation of the EXT2 gene in a large Chinese pedigree with hereditary multiple exostosis

      BRITISH JOURNAL OF CANCER
    14. Senay, C; Lind, T; Muguruma, K; Tone, Y; Kitagawa, H; Sugahara, K; Lidholt, K; Lindahl, U; Kusche-Gullberg, M
      The EXT1/EXT2 tumor suppressors: catalytic activities and role in heparan sulfate biosynthesis

      EMBO REPORTS
    15. Shawen, SB; McHale, KA; Temple, HT
      Correction of ankle valgus deformity secondary to multiple hereditary osteochondral exostoses with Ilizarov

      FOOT & ANKLE INTERNATIONAL
    16. Wuyts, W; Van Hul, W
      Molecular basis of multiple exostoses: Mutations in the EXT1 and EXT2 genes

      HUMAN MUTATION
    17. Stickens, D; Brown, D; Evans, GA
      EXT genes are differentially expressed in bone and cartilage during mouse embryogenesis

      DEVELOPMENTAL DYNAMICS
    18. Dobson-Stone, C; Cox, RD; Lonie, L; Southam, L; Fraser, M; Wise, C; Bernier, F; Hodgson, S; Porter, DE; Simpson, AHRW; Monaco, AP
      Comparison of fluorescent single-strand conformation polymorphism analysisand denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses

      EUROPEAN JOURNAL OF HUMAN GENETICS
    19. Legeai-Mallet, L; Rossi, A; Benoist-Lasselin, C; Piazza, R; Malet, JF; Delezoide, AL; Munnich, A; Bonaventure, J; Zylberberg, L
      EXT 1 gene mutation induces chondrocyte cytoskeletal abnormalities and defective collagen expression in the exostoses

      JOURNAL OF BONE AND MINERAL RESEARCH
    20. Bernard, MA; Hogue, DA; Cole, WG; Sanford, T; Snuggs, MB; Montufar-Solis, D; Duke, PJ; Carson, DD; Scott, A; Van Winkle, WB; Hecht, JT
      Cytoskeletal abnormalities in chondrocytes with EXT1 and EXT2 mutations

      JOURNAL OF BONE AND MINERAL RESEARCH
    21. Ratliff, J; Voorhies, R
      Osteochondroma of the C5 lamina with cord compression - Case report and review of the literature

      SPINE
    22. Murphey, MD; Choi, JJ; Kransdorf, MJ; Flemming, DJ; Gannon, FH
      From the archives of the AFIP - Imaging of osteochondroma: Variants and complications with radiologic-pathologic correlation

      RADIOGRAPHICS
    23. Cohen, MM
      Merging the old skeletal biology with the new. I. Intramembranous ossification, endochondral ossification, ectopic bone, secondary cartilage, and pathologic considerations

      JOURNAL OF CRANIOFACIAL GENETICS AND DEVELOPMENTAL BIOLOGY
    24. Paik, NJ; Han, TR; Lim, SJ
      Multiple peripheral nerve compressions related to malignantly transformed hereditary multiple exostoses

      MUSCLE & NERVE
    25. McCormick, C; Duncan, G; Goutsos, KT; Tufaro, F
      The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    26. Bovee, JVMG; van den Broek, LJCM; Cleton-Jansen, AM; Hogendoorn, PCW
      Up-regulation of PTHrP and Bcl-2 expression characterizes the progression of osteochondroma towards peripheral chondrosarcoma and is a late event in central chondrosarcoma

      LABORATORY INVESTIGATION
    27. Glock, Y; Nehme, I; Delisle, MB; Roux, D; Fournial, G
      Acute ischemia of a limb as a complication of multiple hereditary exostoses - Case report and literature review

      JOURNAL OF CARDIOVASCULAR SURGERY
    28. Wei, G; Bai, XM; Gabb, MMG; Bame, KJ; Koshy, TI; Spear, PG; Esko, JD
      Location of the glucuronosyltransferase domain in the heparan sulfate copolymerase EXT1 by analysis of Chinese hamster ovary cell mutants

      JOURNAL OF BIOLOGICAL CHEMISTRY
    29. Kobayashi, S; Akiyama, T; Nata, K; Abe, M; Tajima, M; Shervani, NJ; Unno, M; Matsuno, S; Sasaki, H; Takasawa, S; Okamoto, H
      Identification of a receptor for Reg (Regenerating gene) protein, a pancreatic beta-cell regeneration factor

      JOURNAL OF BIOLOGICAL CHEMISTRY
    30. Lin, X; Wei, G; Shi, ZZ; Dryer, L; Esko, JD; Wells, DE; Matzuk, MM
      Disruption of gastrulation and heparan sulfate biosynthesis in EXT1-deficient mice

      DEVELOPMENTAL BIOLOGY
    31. Bovee, JVMG; van Royen, M; Bardoel, AFJ; Rosenberg, C; Cornelisse, CJ; Cleton-Jansen, AM; Hogendoorn, PCW
      Near-haploidy and subsequent polyploidization characterize the progressionof peripheral chondrosarcoma

      AMERICAN JOURNAL OF PATHOLOGY
    32. Wu, YQ; Badano, JL; McCaskill, C; Vogel, H; Potocki, L; Shaffer, LG
      Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome

      AMERICAN JOURNAL OF HUMAN GENETICS
    33. Bovee, JVMG; Cleton-Jansen, AM; Kuipers-Dijkshoorn, NJ; van den Broek, LJCM; Taminiau, AHM; Cornelisse, CJ; Hogendoorn, PCW
      Loss of heterozygosity and DNA ploidy point to a diverging genetic mechanism in the origin of peripheral and central chondrosarcoma

      GENES CHROMOSOMES & CANCER
    34. Arai, T; Akiyama, Y; Nagasaki, H; Murase, N; Okabe, S; Ikeuchi, T; Saito, K; Iwai, T; Yuasa, Y
      EXTL3/EXTR1 alterations in colorectal cancer cell lines

      INTERNATIONAL JOURNAL OF ONCOLOGY
    35. Suzuki, A; Shao, XY; Song, XQ; Hanaoka, T; Irie, S; Kashiwada, M; Samara, G; Close, LG; Aoki, T; Fujimori, M; Ishikawa, Y; Hatori, M; Hosaka, M; Sakurada, A; Sato, M; Ohuchi, N; Satomi, S; Fukushige, S; Horii, A; Sato, T
      Identification of a 5-cM region of common allelic loss on 8p12-p21 in human breast cancer and genomic analysis of the hEXT1L/EXTR1/EXTL3 gene in thislocus

      INTERNATIONAL JOURNAL OF ONCOLOGY
    36. Mahon, MC; Driscoll, MP; Glover, WJ; Borchert, KM; Kelleher, ZT; Smith, GJ; Coleman, WB
      Suppression of tumorigenicity of rat liver epithelial tumor cell lines by a putative human 11p11.2-p12 liver tumor suppressor locus

      INTERNATIONAL JOURNAL OF ONCOLOGY
    37. Wuyts, W; Di Gennaro, G; Bianco, F; Wauters, J; Morocutti, C; Pierelli, F; Bossuyt, P; Van Hul, W; Casali, C
      Molecular and clinical examination of an Italian DEFECT 11 family

      EUROPEAN JOURNAL OF HUMAN GENETICS
    38. Olmez, N; Gunaydin, R; Gurgan, A; Elcin, F
      Coexistence of hereditary multiple exostoses and ankylosing spondylitis

      CLINICAL RHEUMATOLOGY
    39. Xu, L; Deng, HX; Xia, JH; Li, HJ; Zhou, JN; Wang, DP; Pan, Q; Long, ZG
      Identification of mutation in a candidate gene for hereditary multiple exostoses type II

      CHINESE MEDICAL JOURNAL
    40. Wuyts, W; Spieker, N; Van Roy, N; De Boulle, K; De Paepe, A; Willems, PJ; Van Hul, W; Versteeg, R; Speleman, F
      Refined physical mapping and genomic structure of the EXTL1 gene

      CYTOGENETICS AND CELL GENETICS
    41. Fiumara, E; Scarabino, T; Guglielmi, G; Bisceglia, M; D'Angelo, V
      Osteochondroma of the L-5 vertebra: a rare cause of sciatic pain - Case report

      JOURNAL OF NEUROSURGERY
    42. Kitagawa, H; Shimakawa, H; Sugahara, K
      The tumor suppressor EXT-like gene EXTL2 encodes an alpha 1, 4-N-acetylhexosaminyltransferase that transfers N-acetylgalactosamine and N-acetylglucosamine to the common glycosaminoglycan-protein linkage region - The key enzyme for the chain initiation of heparan sulfate

      JOURNAL OF BIOLOGICAL CHEMISTRY
    43. SANKARANARAYANAN K
      IONIZING-RADIATION AND GENETIC RISKS - 9 - ESTIMATES OF THE FREQUENCIES OF MENDELIAN-DISEASES AND SPONTANEOUS MUTATION-RATES IN HUMAN-POPULATIONS - A 1998 PERSPECTIVE

      Mutation research. Reviews in mutation research
    44. STICKENS D; EVANS GA
      A SUGAR FIX FOR BONE-TUMORS

      Nature genetics
    45. MCCORMICK C; LEDUC Y; MARTINDALE D; MATTISON K; ESFORD LE; DYER AP; TUFARO F
      THE PUTATIVE TUMOR-SUPPRESSOR EXT1 ALTERS THE EXPRESSION OF CELL-SURFACE HEPARAN-SULFATE

      Nature genetics
    46. ABE M; KOYAMA S
      DEVELOPMENTAL ANTERIOR DISLOCATION OF THE RADIAL HEAD CAUSED BY SOLITARY OSTEOCHONDROMA OF THE PROXIMAL ULNA

      Journal of shoulder and elbow surgery
    47. VANHUL W; WUYTS W; HENDRICKX J; SPELEMAN F; WAUTERS J; DEBOULLE K; VANROY N; BOSSUYT P; WILLEMS PJ
      IDENTIFICATION OF A 3RD EXT-LIKE GENE (EXTL3) BELONGING TO THE EXT GENE FAMILY

      Genomics
    48. MEYER CA; WHITE CS
      CARTILAGINOUS DISORDERS OF THE CHEST

      Radiographics
    49. ELQUESSAR A; CHAKIR N; ELHASSANI MR; JIDDANE M; BOUKHRISSI N
      VERTEBRAL BODY EXOSTOSIS AND SPINAL-CORD COMPRESSION

      Journal of neuroradiology
    50. BELLAICHE Y; THE I; PERRIMON N
      TOUT-VELU IS A DROSOPHILA HOMOLOG OF THE PUTATIVE TUMOR-SUPPRESSOR EXT-1 AND IS NEEDED FOR HH DIFFUSION

      Nature
    51. LIND T; TUFARO F; MCCORMICK C; LINDAHL U; LIDHOLT K
      THE PUTATIVE TUMOR SUPPRESSORS EXT1 AND EXT2 ARE GLYCOSYLTRANSFERASESREQUIRED FOR THE BIOSYNTHESIS OF HEPARAN-SULFATE

      The Journal of biological chemistry
    52. LINDOR NM; GREENE MH
      THE CONCISE HANDBOOK OF FAMILY CANCER SYNDROMES

      Journal of the National Cancer Institute
    53. OKUYAMA K; CHIBA M; OKADA K; SATO K; HOSHI N
      HUGE SOLITARY OSTEOCHONDROMA AT T11 LEVEL CAUSING MYELOPATHY - CASE-REPORT

      Spinal cord
    54. WUYTS W; VANHUL W; HENDRICKX J; SPELEMAN F; WAUTERS J; DEBOULLE K; VANROY N; VANAGTMAEL T; BOSSUYT P; WILLEMS PJ
      IDENTIFICATION AND CHARACTERIZATION OF A NOVEL MEMBER OF THE EXT GENEFAMILY, EXTL2

      European journal of human genetics
    55. TREMBATH RC; CLOUGH RL; ROSBOTHAM JL; JONES AB; CAMP RDR; FRODSHAM A; BROWNE J; BARBER R; TERWILLIGER J; LATHROP GM; BARKER JNWN
      IDENTIFICATION OF A MAJOR SUSCEPTIBILITY LOCUS ON CHROMOSOME 6P AND EVIDENCE FOR FURTHER DISEASE LOCI REVEALED BY A 2-STAGE GENOME-WIDE SEARCH IN PSORIASIS

      Human molecular genetics
    56. BESSLER W; EICH G; STUCKMANN G; ZOLLIKOFER C
      KISSING OSTEOCHONDROMATA LEADING TO SYNOSTOSES

      European radiology
    57. COLEMAN WB; ESCH GL; BORCHERT KM; MCCULLOUGH KD; REID LH; WEISSMAN BE; SMITH GJ; GRISHAM JW
      LOCALIZATION OF A PUTATIVE LIVER-TUMOR SUPPRESSOR LOCUS TO A 950-KB REGION OF HUMAN 11P11.2-P12 USING RAT-LIVER TUMOR MICROCELL HYBRID CELL-LINES

      Molecular carcinogenesis
    58. WELLS DE; HILL A; LIN X; AHN J; BROWN N; WAGNER MJ
      IDENTIFICATION OF NOVEL MUTATIONS IN THE HUMAN EXT1 TUMOR-SUPPRESSOR GENE

      Human genetics
    59. NARDMANN J; TRANEBJAERG L; HORSTHEMKE B; LUDECKE HJ
      THE TRICHORHINOPHALANGEAL SYNDROMES - FREQUENCY AND PARENTAL ORIGIN OF 8Q DELETIONS

      Human genetics
    60. LOHMANN DR; BUITING K; LUDECKE HJ; HORSTHEMKE B
      THE MURINE EXT1 GENE SHOWS A HIGH-LEVEL OF SEQUENCE SIMILARITY WITH ITS HUMAN HOMOLOG AND IS PART OF A CONSERVED LINKAGE GROUP ON CHROMOSOME-15

      Cytogenetics and cell genetics
    61. WATERS PM; VANHEEST AE; EMANS J
      ACUTE FOREARM LENGTHENINGS

      Journal of pediatric orthopedics
    62. ARMS DM; STRECKER WB; MANSKE PR; SCHOENECKER PL
      MANAGEMENT OF FOREARM DEFORMITY IN MULTIPLE HEREDITARY OSTEOCHONDROMATOSIS

      Journal of pediatric orthopedics
    63. WIRGANOWICZ PZ; WATTS HG
      SURGICAL RISK FOR ELECTIVE EXCISION OF BENIGN EXOSTOSES

      Journal of pediatric orthopedics
    64. LARRAMENDY ML; VALLE J; TARKKANEN M; KIVIOJA AH; KARAHARJU E; SALMIVALLI T; ELOMAA I; KNUUTILA S
      NO DNA COPY NUMBER CHANGES IN OSTEOCHONDROMAS - A COMPARATIVE GENOMICHYBRIDIZATION STUDY

      Cancer genetics and cytogenetics
    65. GIRSCHICK HJ; KRAUSPE R; ERGEZINGER K; HUPPERTZ HI
      HEREDITARY MULTIPLE EXOSTOSES - SURGICAL INTERVENTION FOR FUNCTIONAL JOINT IMPAIRMENT AND IMMINENT DISABILITY

      Monatsschrift fur Kinderheilkunde
    66. PIAO Z; KIM H; JEON BK; LEE WJ; PARK C
      RELATIONSHIP BETWEEN LOSS OF HETEROZYGOSITY OF TUMOR-SUPPRESSOR GENESAND HISTOLOGIC DIFFERENTIATION IN HEPATOCELLULAR-CARCINOMA

      Cancer
    67. MULCAHY GM; GOGGINS M; WILLIS D; DECKER RA; LUCE MC; PARSONS R; MARKOWITZ S; NAROD SA; HOLT JT; PAGE DL; MAUER AM; THOR A
      PATHOLOGY AND GENETIC TESTING - WORKSHOP NO.6

      Cancer
    68. LARRAMENDY ML; TARKKANEN M; VALLE J; KIVIOJA AH; ERVASTI H; KARAHARJU E; SALMIVALLI T; ELOMAA I; KNUUTILA S
      GAINS, LOSSES, AND AMPLIFICATIONS OF DNA-SEQUENCES EVALUATED BY COMPARATIVE GENOMIC HYBRIDIZATION IN CHONDROSARCOMAS

      The American journal of pathology
    69. MURPHEY MD; ANDREWS CI; FLEMMING DJ; TEMPLE HT; SMITH WS; SMIRNIOTOPOULOS JG
      FROM THE ARCHIVES OF THE AFIP - PRIMARY TUMORS OF THE SPINE - RADIOLOGIC-PATHOLOGICAL CORRELATION

      Radiographics
    70. BLANTON SH; HOGUE D; WAGNER M; WELLS D; YOUNG ID; HECHT JT
      HEREDITARY MULTIPLE EXOSTOSES - CONFIRMATION OF LINKAGE TO CHROMOSOME-8 AND CHROMOSOME-11

      American journal of medical genetics
    71. ROBBINS SE; LAITT RD; LEWIS T
      HEREDITARY SPINAL OSTEOCHONDROMAS IN DIAPHYSEAL ACLASIA

      Neuroradiology
    72. LABRAM EK; MOHAN J
      DIAPHYSEAL ACLASIS WITH SPINAL-CORD COMPRESSION - REPORT OF 2 CASES AND REVIEW OF THE LITERATURE

      Journal of neurosurgery
    73. NEMTSOVA MV; YATSENKO AN; KULESHOV NP; NOVIKOV PV; MEERSON EM; ZALETAEV DV
      A MOLECULAR-GENETIC DESCRIPTION OF THE RE GION OF DELETIONS IN CHROMOSOME 8Q24.1 IN LANGER-GIEDION SYNDROME AND TRIHO-RHINO-PHALANGEAL SYNDROME TYPE-I

      Genetika
    74. ESCHELMAN DJ; GARDINER GA; DEELY DM
      OSTEOCHONDROMA - AN UNUSUAL CAUSE OF VASCULAR-DISEASE IN YOUNG-ADULTS

      Journal of vascular and interventional radiology
    75. KRUZELOCK RP; HANSEN MF
      MOLECULAR-GENETICS AND CYTOGENETICS OF SARCOMAS

      Hematology/oncology clinics of North America
    76. JACKSON A; HUGHES D; FORBES WS; STEWART G; CUMMINGS WJK; REID H
      A CASE OF OSTEOCHONDROMA OF THE CERVICAL-SPINE

      Skeletal radiology
    77. CARLIOZ H
      EXOSTOSES, MULTIPLE HEREDITARY

      La Semaine des hopitaux de Paris
    78. PAHOR A; KRAJNC I; HOJSFABJAN T
      MULTIPLE HEREDITARY EXOSTOSES - CASE-REPO RT AND LITERATURE-REVIEW

      Die medizinische Welt
    79. OBRIEN MF; BRIDWELL KH; LENKE LG; SCHOENECKER PL
      INTRACANALICULAR OSTEOCHONDROMA PRODUCING SPINAL-CORD COMPRESSION IN HEREDITARY MULTIPLE EXOSTOSES

      Journal of spinal disorders
    80. PETERSON HA
      DEFORMITIES AND PROBLEMS OF THE FOREARM IN CHILDREN WITH MULTIPLE HEREDITARY OSTEOCHONDROMATA

      Journal of pediatric orthopedics
    81. RODGERS WB; HALL JE
      ONE-BONE FOREARM AS A SALVAGE PROCEDURE FOR RECALCITRANT FOREARM DEFORMITY IN HEREDITARY MULTIPLE EXOSTOSES

      Journal of pediatric orthopedics
    82. GEORGE B; LOT G; VELUT S; GELBERT F; MOURIER KL
      TUMORS OF THE FORAMEN MAGNUM

      Neuro-chirurgie


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Documento generato il 06/08/20 alle ore 04:19:13