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    1. Prip-Buus, C; Thuillier, L; Abadi, N; Prasad, C; Dilling, L; Klasing, J; Demaugre, F; Greenberg, CR; Haworth, JC; Droin, V; Kadhom, N; Gobin, S; Kamoun, P; Girard, J; Bonnefont, JP
      Molecular and enzymatic characterization of a unique carnitine palmitoyltransferase 1A mutation in the Hutterite community

      MOLECULAR GENETICS AND METABOLISM
    2. Prasad, C; Johnson, JP; Bonnefont, JP; Dilling, LA; Innes, AM; Haworth, JC; Beischel, L; Thuillier, L; Prip-Buus, C; Singal, R; Thompson, JRG; Prasad, AN; Buist, N; Greenberg, CR
      Hepatic carnitine palmitoyl transferase 1 (CPT1 A) deficiency in North American Hutterites (Canadian and American): Evidence for a founder effect andresults of a pilot study on a DNA-based newborn screening program

      MOLECULAR GENETICS AND METABOLISM
    3. Brown, CA; Lanning, RW; McKinney, KQ; Salvino, AR; Cherniske, E; Crowe, CA; Darras, BT; Gominak, S; Greenberg, CR; Grosmann, C; Heydemann, P; Mendell, JR; Pober, BR; Sasaki, T; Shapiro, F; Simpson, DA; Suchowersky, O; Spence, JE
      Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifussmuscular dystrophy

      AMERICAN JOURNAL OF MEDICAL GENETICS
    4. Innes, AM; Chudley, AE; Reed, MH; Shuckett, EP; Hildes-Ripstein, GE; Greenberg, CR
      Third case of cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome, further delineating a new malformation syndrome: First reportof an affected male and review of literature

      AMERICAN JOURNAL OF MEDICAL GENETICS
    5. Hsu, BYL; Kelly, A; Thornton, PS; Greenberg, CR; Dilling, LA; Stanley, CA
      Protein-sensitive and fasting hypoglycemia in children with the hyperinsulinism/hyperammonemia syndrome

      JOURNAL OF PEDIATRICS
    6. Bevan, S; Pal, T; Greenberg, CR; Green, H; Wixey, J; Bignell, G; Narod, SA; Foulkes, WD; Stratton, MR; Houlston, RS
      A comprehensive analysis of MNG1, TCO1, fPTC, PTEN, TSHR, and TRKA in familial nonmedullary thyroid cancer: Confirmation of linkage to TCO1

      JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
    7. Schmidt, LS; Warren, MB; Nickerson, ML; Weirich, G; Matrosova, V; Toro, JR; Turner, ML; Duray, P; Merino, M; Hewitt, S; Pavlovich, CP; Glenn, G; Greenberg, CR; Linehan, WM; Zbar, B
      Birt-Hogg-Dube syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2

      AMERICAN JOURNAL OF HUMAN GENETICS
    8. Anderson, LVB; Harrison, RM; Pogue, R; Vafiadaki, E; Pollitt, C; Davison, K; Moss, JA; Keers, S; Pyle, A; Shaw, PJ; Mahjneh, I; Argov, Z; Greenberg, CR; Wrogemann, K; Bertorini, T; Goebel, HH; Beckmann, JS; Bashir, R; Bushby, KMD
      Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)

      NEUROMUSCULAR DISORDERS
    9. Bjorklund, NK; Evans, JA; Greenberg, CR
      Folic acid supplementation: more work is needed

      CANADIAN MEDICAL ASSOCIATION JOURNAL
    10. Innes, AM; Seargeant, LE; Balachandra, K; Roe, CR; Wanders, RJA; Ruiter, JPN; Casiro, O; Grewar, DA; Greenberg, CR
      Hepatic carnitine palmitoyltransferase I deficiency presenting as maternalillness in pregnancy

      PEDIATRIC RESEARCH
    11. Illarioshkin, SN; Ivanova-Smolenskaya, IA; Greenberg, CR; Nylen, E; Sukhorukov, VS; Poleshchuk, VV; Markova, ED; Wrogemann, K
      Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B anddistal myopathy

      NEUROLOGY
    12. Meira, LB; Graham, JM; Greenberg, CR; Busch, DB; Doughty, ATB; Ziffer, DW; Coleman, DM; Savre-Train, I; Friedberg, EC
      Manitoba aboriginal kindred with original cerebro-oculo-facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene

      AMERICAN JOURNAL OF HUMAN GENETICS
    13. Bonne, G; Di Barletta, MR; Varnous, S; Becane, HM; Hammouda, EH; Merlini, L; Muntoni, F; Greenberg, CR; Gary, F; Urtizberea, JA; Duboc, D; Fardeau, M; Toniolo, D; Schwartz, K
      Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

      NATURE GENETICS
    14. Weiler, T; Bashir, R; Anderson, LVB; Davison, K; Moss, JA; Britton, S; Nylen, E; Keers, S; Vafiadaki, E; Greenberg, CR; Bushby, KMD; Wrogemann, K
      Identical mutation in patients with limb girdle muscular dystrophy type 2Bor Miyoshi myopathy suggests a role for modifier gene(s)

      HUMAN MOLECULAR GENETICS
    15. Zhou, G; Chen, YQ; Zhou, L; Thirunavukkarasu, K; Hecht, J; Chitayat, D; Gelb, BD; Pirinen, S; Berry, SA; Greenberg, CR; Karsenty, G; Lee, B
      CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia

      HUMAN MOLECULAR GENETICS
    16. Leslie, WD; Greenberg, CR; Abrams, DN; Hobson, D
      Clinical deficits in Huntington disease correlate with reduced striatal uptake on iodine-123 epidepride single-photon emission tomography

      EUROPEAN JOURNAL OF NUCLEAR MEDICINE
    17. Huie, ML; Kasper, JS; Arn, PH; Greenberg, CR; Hirschhorn, R
      Increased occurrence of cleft lip in glycogen storage disease type II (GSDII): Exclusion of a contiguous gene syndrome in two patients by presence ofintragenic mutations including a novel nonsense mutation Gln58Stop

      AMERICAN JOURNAL OF MEDICAL GENETICS
    18. Evans, JA; Erdile, LB; Greenberg, CR; Chudley, AE
      Agenesis of the penis: Patterns of associated malformations

      AMERICAN JOURNAL OF MEDICAL GENETICS
    19. Evans, JA; Greenberg, CR; Erdile, L
      Tracheal agenesis revisited: Analysis of associated anomalies

      AMERICAN JOURNAL OF MEDICAL GENETICS
    20. Seargeant, LE; Balachandra, K; Mallory, C; Dilling, LA; Greenberg, CR
      A simple screening test for fatty acid oxidation defects using whole-bloodpalmitate oxidation

      JOURNAL OF INHERITED METABOLIC DISEASE
    21. Greenberg, CR
      Long-term survival and normal cognitive development in infantile phosphofructokinase-1 deficiency

      CLINICAL GENETICS
    22. GOODMAN SI; STEIN DE; SCHLESINGER S; CHRISTENSEN E; SCHWARTZ M; GREENBERG CR; ELPELEG ON
      GLUTARYL-COA DEHYDROGENASE MUTATIONS IN GLUTARIC ACIDEMIA (TYPE-I) - REVIEW AND REPORT OF 30 NOVEL MUTATIONS

      Human mutation
    23. LESLIE WD; GREENBERG CR; ABRAMS D; HOBSON D
      CLINICAL DEFICITS IN HUNTINGTON-DISEASE CORRELATE WITH REDUCED STRIATAL UPTAKE ON [I-123] EPIDEPRIDE SPECT

      The Journal of nuclear medicine
    24. STANLEY CA; LIEU YK; HSU BYL; BURLINA AB; GREENBERG CR; HOPWOOD NJ; PERLMAN K; RICH BH; ZAMMARCHI E; PONCZ M
      HYPERINSULINISM AND HYPERAMMONEMIA IN INFANTS WITH REGULATORY MUTATIONS OF THE GLUTAMATE-DEHYDROGENASE GENE

      The New England journal of medicine
    25. Rothemund, H; Greenberg, CR; Dawson, AJ
      Mosaic supernumerary marker chromosome identified as a der(3) by FISH

      CLINICAL GENETICS
    26. WEILER T; GREENBERG CR; ZELINSKI T; NYLEN E; COGHLAN G; CRUMLEY MJ; FUJIWARA TM; MORGAN K; WROGEMANN K
      A GENE FOR AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHY IN MANITOBA HUTTERITES MAPS TO CHROMOSOME REGION 9Q31-Q33 - EVIDENCE FOR ANOTHER LIMB-GIRDLE MUSCULAR-DYSTROPHY LOCUS

      American journal of human genetics
    27. CARBONE MA; MACKAY N; LING MF; COLE DEC; DOUGLAS C; RIGAT B; FEIGENBAUM A; CLARKE JTR; HAWORTH JC; GREENBERG CR; SEARGEANT L; ROBINSON BH
      AMERINDIAN PYRUVATE-CARBOXYLASE DEFICIENCY IS ASSOCIATED WITH 2 DISTINCT MISSENSE MUTATIONS

      American journal of human genetics
    28. CHONG SS; ALMQVIST E; TELENIUS H; LATRAY L; NICHOL K; BOURDELATPARKS B; GOLDBERG YP; HADDAD BR; RICHARDS F; SILLENCE D; GREENBERG CR; IVES E; VANDENENGH G; HUGHES MR; HAYDEN MR
      CONTRIBUTION OF DNA-SEQUENCE AND CAG SIZE TO MUTATION FREQUENCIES OF INTERMEDIATE ALLELES FOR HUNTINGTON DISEASE - EVIDENCE FROM SINGLE SPERM ANALYSES

      Human molecular genetics
    29. CHODIRKER BN; GREENBERG CR; GIDDINS NG; DAWSON AJ; EVANS JA; CHUDLEY AR
      LOW MSAFP LEVELS AND WILLIAMS-SYNDROME

      American journal of medical genetics
    30. WEILER T; GREENBERG CR; NYLEN E; MORGAN K; FUJIWARA TM; CRUMLEY MJ; ZELINSKY T; HALLIDAY W; NICKEL B; TRIGGSRAINE B; WROGEMANN K
      LIMB-GIRDLE MUSCULAR-DYSTROPHY IN MANITOBA HUTTERITES DOES NOT MAP TOANY OF THE KNOWN LGMD LOCI

      American journal of medical genetics
    31. CHRISTENSEN E; RIBES A; BUSQUETS C; PINEDA M; DURAN M; POLLTHE BT; GREENBERG CR; LEFFERS H; SCHWARTZ M
      COMPOUND HETEROZYGOSITY IN THE GLUTARYL-COA DEHYDROGENASE GENE WITH R227P MUTATION IN ONE ALLELE IS ASSOCIATED WITH NO OR VERY-LOW FREE GLUTARATE EXCRETION

      Journal of inherited metabolic disease
    32. DELBIGIO MR; GREENBERG CR; RORKE LB; SCHNUR R; MCDONALDMCGINN DM; ZACKAI EH
      NEUROPATHOLOGICAL FINDINGS IN 8 CHILDREN WITH CEREBRO-OCULO-FACIO-SKELETAL (COFS) SYNDROME

      Journal of neuropathology and experimental neurology
    33. INNES AM; SEARGEANT LE; BALACHANDRA K; ROE CR; WANDERS RJA; APPLEGARTH D; CASIRO O; GREWAR D; FRIESEN F; GREENBERG CR
      AN EXPANDING SPECTRUM OF METABOLIC DISORDERS CAN CAUSE ACUTE FATTY LIVER OF PREGNANCY (AFLP), HEMOLYSIS, ELEVATED LIVER-ENZYMES AND LOW PLATELETS SYNDROME (HELLP), AND HYPEREMESIS GRAVIDARUM

      American journal of human genetics
    34. FRANZMANN TL; GREENBERG CR; ILLARIOSHKIN SN; IVANOVASMOLENSKAYA IA; MORGAN K; WEILER T; NYLEN E; WROGEMANN K
      SEARCHING FOR MODIFIER GENE(S) IN LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE2B AND MIYOSHI-MYOPATHY

      American journal of human genetics
    35. LESLIE WD; ABRAMS DN; GREENBERG CR; HOBSON D
      COMPARISON OF IODINE-123-EPIDEPRIDE AND IODINE-123-IBZM FOR DOPAMINE D2 RECEPTOR IMAGING

      The Journal of nuclear medicine
    36. LEMIRE EG; MOROZ S; POLLOCK B; POSTUMA R; GREENBERG CR
      ACUTE-PANCREATITIS IN A PATIENT WITH GLUTARIC ACIDEMIA TYPE-I

      The Journal of pediatrics
    37. SERFAS KD; BOSE D; PATEL L; WROGEMANN K; PHILLIPS MS; MACLENNAN DH; GREENBERG CR
      COMPARISON OF THE SEGREGATION OF THE RYR1 C1840T MUTATION WITH SEGREGATION OF THE CAFFEINE HALOTHANE CONTRACTURE TEST-RESULTS FOR MALIGNANTHYPERTHERMIA SUSCEPTIBILITY IN A LARGE MANITOBA MENNONITE FAMILY

      Anesthesiology
    38. WEILER T; GREENBERG CR; NYLEN E; HALLIDAY W; MORGAN K; EGGERTSON D; WROGEMANN K
      LIMB-GIRDLE MUSCULAR-DYSTROPHY AND MIYOSHI MYOPATHY IN AN ABORIGINAL CANADIAN KINDRED MAP TO LGMD2B AND SEGREGATE WITH THE SAME HAPLOTYPE

      American journal of human genetics
    39. BELSHAM DD; PEREIRA F; GREENBERG CR; LIAO SS; WROGEMANN K
      LEU-676-PRO MUTATION OF THE ANDROGEN RECEPTOR CAUSES COMPLETE ANDROGEN INSENSITIVITY SYNDROME IN A LARGE HUTTERITE KINDRED

      Human mutation
    40. GREENBERG CR; REIMER D; SINGAL R; TRIGGSRAINE B; CHUDLEY AE; DILLING LA; PHILIPPS S; HAWORTH JC; SEARGEANT LE; GOODMAN SI
      A G-TO-T TRANSVERSION AT THE -POSITION OF INTRON-1 IN THE GLUTARYL COA DEHYDROGENASE GENE IS ASSOCIATED WITH THE ISLAND LAKE VARIANT OF GLUTARIC ACIDEMIA TYPE-I(5)

      Human molecular genetics
    41. SOMMER SS; KNOLL A; GREENBERG CR; KETTERLING RP
      GERMLINE MOSAICISM IN A FEMALE WHO SEEMED TO BE A CARRIER BY SEQUENCE-ANALYSIS

      Human molecular genetics
    42. COPLEY TT; WIGGINS S; DUFRASNE S; BLOCH M; ADAM S; MCKELLIN W; HAYDEN MR; IVES E; WELCH JP; FULLER A; MILLER S; ANDERMANN E; ROY M; MCLEOD P; HUNTER A; MESCHINO W; WHELAN D; EISENBERG D; SOLTAN H; KANE J; GREENBERG CR; KNIGHT J; THOMPSON LP; SHOKEIR MHK; BAMFORTH S; GROVER S; SUCHOWERSKY O; KLIMEK M
      ARE WE ALL OF ONE MIND - CLINICIAN AND PATIENTS OPINIONS REGARDING THE DEVELOPMENT OF A SERVICE PROTOCOL FOR PREDICTIVE TESTING FOR HUNTINGTON-DISEASE

      American journal of medical genetics
    43. MARLES SL; CHODIRKER BN; GREENBERG CR; CHUDLEY AE
      EVIDENCE FOR RITSCHER-SCHINZEL SYNDROME IN CANADIAN NATIVE INDIANS

      American journal of medical genetics
    44. GREENBERG CR; HAWORTH JC; SEARGEANT LE; DILLING LA; LAITINEN A; HIETALA M; AULA P
      2 NEW MUTATIONS IN THE ASPARTYLGLUCOSAMINIDASE (AGA) GENE CAUSING ASPARTYLGLUCOSAMINURIA (AGU)

      Pediatric research
    45. GREENBERG CR; BOOTH FA; DEGROOT GW; REGGIN JD
      INTRACRANIAL HEMORRHAGE AND GLUTARIC ACIDEMIA TYPE-I (GAI) - A NEW ASSOCIATION

      Pediatric research
    46. WROGEMANN K; WEILER T; NYLEN EG; HALLIDAY W; GREENBERG CR
      ANOTHER LOCUS FOR LIMB-GIRDLE MUSCULAR-DYSTROPHY

      American journal of human genetics
    47. CHODIRKER BN; GREENBERG CR; GIDDINS NG; DAWSON AJ; EVANS JA; CHUDLEY AE
      LOW MSAFP LEVELS AND WILLIAMS-SYNDROME

      American journal of human genetics
    48. HAWORTH JC; SINGAL R; GOODMAN SI; GREENBERG CR
      TAQI POLYMORPHISM IN INTRON-2 OF THE GCDH GENE

      Human molecular genetics
    49. GREENBERG CR; DUNCAN AMV; GREGORY CA; SINGAL R; GOODMAN SI
      ASSIGNMENT OF HUMAN GLUTARYL-COA DEHYDROGENASE GENE (GCDH) TO THE SHORT ARM OF CHROMOSOME-19 (19P13.2) BY IN-SITU HYBRIDIZATION AND SOMATIC-CELL HYBRID ANALYSIS

      Genomics
    50. GORSKI SM; ADAMS KJ; BIRCH PH; CHODIRKER BN; GREENBERG CR; GOODFELLOW PJ
      LINKAGE ANALYSIS OF X-LINKED CLEFT-PALATE AND ANKYLOGLOSSIA IN MANITOBA MENNONITE AND BRITISH-COLUMBIA NATIVE KINDREDS

      Human genetics
    51. MEARS AJ; DUNCAN AMV; BUDARF ML; EMANUEL BS; SELLINGER B; SIEGELBARTELT J; GREENBERG CR; MCDERMID HE
      MOLECULAR CHARACTERIZATION OF THE MARKER CHROMOSOME ASSOCIATED WITH CAT EYE SYNDROME

      American journal of human genetics
    52. WEKSBERG R; TESHIMA I; WILLIAMS BRG; GREENBERG CR; PUESCHEL SM; CHERNOS JE; FOWLOW SB; HOYME E; ANDERSON IJ; WHITEMAN DAH; FISHER N; SQUIRE J
      MOLECULAR CHARACTERIZATION OF CYTOGENETIC ALTERATIONS ASSOCIATED WITHTHE BECKWITH-WIEDEMANN SYNDROME (BWS) PHENOTYPE REFINES THE LOCALIZATION AND SUGGESTS THE GENE FOR BWS IS IMPRINTED

      Human molecular genetics
    53. GREENBERG CR; TAYLOR CLD; HAWORTH JC; SEARGEANT LE; PHILIPPS S; TRIGGSRAINE B; CHODIRKER BN
      A HOMOALLELIC GLY(317)-]ASP MUTATION IN ALPL CAUSES THE PERINATAL (LETHAL) FORM OF HYPOPHOSPHATASIA IN CANADIAN MENNONITES

      Genomics
    54. GREENBERG CR; GREENBERG D
      DOWN IN THE MORGUE

      CMAJ. Canadian Medical Association journal
    55. MARLES SL; MCALPINE PJ; ZELINSKI T; PHILLIPS S; MAEDA N; GREENBERG CR
      IDENTIFICATION OF AN UNCOMMON HAPTOGLOBIN TYPE USING DNA AND PROTEIN-ANALYSIS

      Human genetics
    56. BAPAT B; MITRI A; GREENBERG CR
      IMPROVED PREDICTIVE CARRIER TESTING FOR FAMILIAL ADENOMATOUS POLYPOSIS USING DNA FROM A SINGLE ARCHIVAL SPECIMEN AND POLYMORPHIC MARKERS WITH MULTIPLE ALLELES

      Human pathology
    57. HILDES E; JACOBS HK; CAMERON A; SESHIA SS; BOOTH F; EVANS JA; WROGEMANN K; GREENBERG CR
      IMPACT OF GENETIC-COUNSELING AFTER NEONATAL SCREENING FOR DUCHENNE MUSCULAR-DYSTROPHY

      Journal of Medical Genetics


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Documento generato il 09/12/19 alle ore 03:57:14