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La ricerca find articoli where authors phrase all words ' SOUTAR AK' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 41 riferimenti
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    1. O'Neill, FH; Patel, DD; Knight, BL; Neuwirth, CKY; Bourbon, M; Soutar, AK; Taylor, GW; Thompson, GR; Naoumova, RP
      Determinants of variable response to statin treatment in patients with refractory familial hypercholesterolemia

      ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
    2. Riddell, DR; Sun, XM; Stannard, AK; Soutar, AK; Owen, JS
      Localization of apolipoprotein E receptor 2 to caveolae in the plasma membrane

      JOURNAL OF LIPID RESEARCH
    3. Slimane, MN; Lestavel, S; Sun, XM; Maatouk, F; Soutar, AK; Ben Farhat, MH; Clavey, V; Benlian, P; Hammami, M
      Fh-Souassi: a founder frameshift mutation in exon 10 of the LDL-receptor gene, associated with a mild phenotype in Tunisian families

      ATHEROSCLEROSIS
    4. Eden, ER; Naoumova, RP; Burden, JJ; McCarthy, MI; Soutar, AK
      Use of homozygosity mapping to identify a region on chromosome 1 bearing adefective gene that causes autosomal recessive homozygous hypercholesterolemia in two unrelated families

      AMERICAN JOURNAL OF HUMAN GENETICS
    5. Ekstrom, U; Abrahamson, M; Sveger, T; Sun, XM; Soutar, AK; Nilsson-Ehle, P
      Expression of an LDL receptor allele with two different mutations (E256K and I402T)

      JOURNAL OF CLINICAL PATHOLOGY-MOLECULAR PATHOLOGY
    6. Patel, DD; Knight, BL; Soutar, AK; Gibbons, GF; Wade, DP
      The effect of peroxisome-proliferator-activated receptor-alpha on the activity of the cholesterol 7 alpha-hydroxylase gene

      BIOCHEMICAL JOURNAL
    7. Kreuter, R; Soutar, AK; Wade, DP
      Transcription factors CCAAT/enhancer-binding protein beta and nuclear factor-Y bind to discrete regulatory elements in the very low density lipoprotein receptor promoter

      JOURNAL OF LIPID RESEARCH
    8. Norman, D; Sun, XM; Bourbon, M; Knight, BL; Naoumova, RP; Soutar, AK
      Characterization of a novel cellular defect in patients with phenotypic homozygous familial hypercholesterolemia

      JOURNAL OF CLINICAL INVESTIGATION
    9. Sun, XM; Soutar, AK
      Expression in vitro of alternatively spliced variants of the messenger RNAfor human apolipoprotein E receptor-2 identified in human tissues by ribonuclease protection assays

      EUROPEAN JOURNAL OF BIOCHEMISTRY
    10. Bourbon, M; Fowler, AM; Sun, XM; Soutar, AK
      Inheritance of two different alleles of the low-density lipoprotein (LDL)-receptor gene carrying the recurrent Pro664Leu mutation in a patient with homozygous familial hypercholesterolaemia

      CLINICAL GENETICS
    11. Ekstrom, U; Abrahamson, M; Floren, CH; Tollig, H; Wettrell, G; Nilsson, E; Sun, XM; Soutar, AK; Nilsson-Ehle, P
      An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F)

      CLINICAL GENETICS
    12. Soutar, AK
      Low-density lipoprotein receptors

      LIPOPROTEINS IN HEALTH AND DISEASE
    13. PIMSTONE SN; SUN XM; DUSOUICH C; FROHLICH JJ; HAYDEN MR; SOUTAR AK
      PHENOTYPIC VARIATION IN HETEROZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA - A COMPARISON OF CHINESE PATIENTS WITH THE SAME OR SIMILAR MUTATIONS INTHE LDL RECEPTOR GENE IN CHINA OR CANADA

      Arteriosclerosis, thrombosis, and vascular biology
    14. SOUTAR AK
      UPDATE ON LOW-DENSITY-LIPOPROTEIN RECEPTOR MUTATIONS

      Current opinion in lipidology
    15. SUN XM; PATEL DD; KNIGHT BL; SOUTAR AK
      INFLUENCE OF GENOTYPE AT THE LOW-DENSITY-LIPOPROTEIN (LDL) RECEPTOR GENE LOCUS ON THE CLINICAL PHENOTYPE AND RESPONSE TO LIPID-LOWERING DRUG-THERAPY IN HETEROZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA

      Atherosclerosis
    16. SUN XM; PATEL DD; KNIGHT BL; SOUTAR AK
      COMPARISON OF THE GENETIC-DEFECT WITH LDL-RECEPTOR ACTIVITY IN CULTURED-CELLS FROM PATIENTS WITH A CLINICAL-DIAGNOSIS OF HETEROZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA

      Arteriosclerosis, thrombosis, and vascular biology
    17. PATEL DD; FORDER RA; SOUTAR AK; KNIGHT BL
      SYNTHESIS AND PROPERTIES OF THE VERY-LOW-DENSITY-LIPOPROTEIN RECEPTORAND A COMPARISON WITH THE LOW-DENSITY-LIPOPROTEIN RECEPTOR

      Biochemical journal
    18. SLIMANE MN; SUN XM; MAATOUG F; SOUTAR AK; HAMMAMI M
      IDENTIFICATION OF 2 MUTATIONS CAUSING FAMILIAL HYPERCHOLESTEROLEMIA IN TUNISIA

      Atherosclerosis
    19. SUN XM; PIMSTONE SN; DESOUICH C; FROHLICH J; HAYDEN MR; SOUTAR AK
      PHENOTYPIC VARIATION IN FAMILIAL HYPERCHOLESTEROLEMIA - A COMPARISON OF CHINESE PATIENTS HETEROZYGOUS FOR THE SAME OR SIMILAR MUTATIONS IN THE LOW-DENSITY LIPOPROTEIN-RECEPTOR GENE LIVING IN CHINA OR CANADA

      Atherosclerosis
    20. KREUTER R; SOUTAR AK; WADE DP
      CCAAT ENHANCER-BINDING PROTEIN-BETA BINDS TO A REGULATORY ELEMENT OF THE VERY-LOW-DENSITY LIPOPROTEIN RECEPTOR PROMOTER/

      Atherosclerosis
    21. NORMAN D; PATEL DD; SUN XM; KNIGHT BL; SOUTAR AK
      MODIFIED VERY-LOW-DENSITY LIPOPROTEIN RECEPTOR LACKING THE FIRST REPEAT IN THE LIGAND-BINDING DOMAIN BINDS BETA-VERY LOW-DENSITY-LIPOPROTEIN BUT NOT LOW-DENSITY-LIPOPROTEIN

      Atherosclerosis
    22. PEPYS MB; BOOTH DR; BOOTH SE; TAN SY; PERSEY MR; HUTCHINSON WL; TENNENT GA; HSUAN JJ; TOTTY NK; NGUYEN O; SOUTAR AK; CAMPISTOL JM; VANZYLSMIT R; HAWKINS PN
      NEW VARIANTS OF APOAI - THE FIRST DELETION MUTATIONS CAUSING HEREDITARY AMYLOIDOSIS

      Quarterly Journal of Medicine
    23. WEBB JC; PATEL DD; SHOULDERS CC; KNIGHT BL; SOUTAR AK
      GENETIC-VARIATION AT A SPLICING BRANCH POINT IN INTRON-9 OF THE LOW-DENSITY-LIPOPROTEIN (LDL)-RECEPTOR GENE - A RARE MUTATION THAT DISRUPTSMESSENGER-RNA SPLICING IN A PATIENT WITH FAMILIAL HYPERCHOLESTEROLEMIA AND A COMMON POLYMORPHISM

      Human molecular genetics
    24. SOUTAR AK
      INTRACELLULAR-TRANSPORT OF THE LOW-DENSITY-LIPOPROTEIN RECEPTOR

      Biochemical Society transactions
    25. WEBB JC; SUN XM; MCCARTHY SN; NEUWIRTH C; THOMPSON GR; KNIGHT BL; SOUTAR AK
      CHARACTERIZATION OF MUTATIONS IN THE LOW-DENSITY-LIPOPROTEIN (LDL)-RECEPTOR GENE IN PATIENTS WITH HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA,AND FREQUENCY OF THESE MUTATIONS IN FH PATIENTS IN THE UNITED-KINGDOM

      Journal of lipid research
    26. BOOTH DR; TAN SY; BOOTH SE; TENNENT GA; HUTCHINSON WL; HSUAN JJ; TOTTY NF; TRUONG O; SOUTAR AK; HAWKINS PN; BRUGUERA M; CABALLERIA J; SOLE M; CAMPISTOL JM; PEPYS MB
      HEREDITARY HEPATIC AND SYSTEMIC AMYLOIDOSIS CAUSED BY A NEW DELETION INSERTION MUTATION IN THE APOLIPOPROTEIN AL GENE/

      The Journal of clinical investigation
    27. BOOTH DR; TAN SY; BOOTH SE; HSUAN JJ; TOTTY NF; NGUYEN O; HUTTON T; VIGUSHIN DM; TENNENT GA; HUTCHINSON WL; THOMSON N; SOUTAR AK; HAWKINS PN; PEPYS MB
      A NEW APOLIPOPROTEIN AL VARIANT, TRP50ARG, CAUSES HEREDITARY AMYLOIDOSIS

      Quarterly Journal of Medicine
    28. SOUTAR AK
      FAMILIAL HYPERCHOLESTEROLEMIA - MUTATIONS IN THE GENE FOR THE LOW-DENSITY-LIPOPROTEIN RECEPTOR

      Molecular medicine today
    29. LOVAT LB; BOOTH SE; BOOTH DR; MADHOO S; HOLMGREN G; HAWKINS PN; SOUTAR AK; PEPYS MB
      APOLIPOPROTEIN E4 GENOTYPE IS NOT A RISK FACTOR FOR SYSTEMIC AA AMYLOIDOSIS OR FAMILIAL AMYLOID POLYNEUROPATHY

      AMYLOID-INTERNATIONAL JOURNAL OF EXPERIMENTAL AND CLINICAL INVESTIGATION
    30. SUN XM; PATEL DD; BHATNAGAR D; KNIGHT BL; SOUTAR AK
      CHARACTERIZATION OF A SPLICE-SITE MUTATION IN THE GENE FOR THE LDL RECEPTOR-ASSOCIATED WITH AN UNPREDICTABLY SEVERE CLINICAL PHENOTYPE IN ENGLISH PATIENTS WITH HETEROZYGOUS FH

      Arteriosclerosis, thrombosis, and vascular biology
    31. SUN XM; NEUWIRTH C; WADE DP; KNIGHT BL; SOUTAR AK
      A MUTATION (T-45C) IN THE PROMOTER REGION OF THE LOW-DENSITY-LIPOPROTEIN (LDL)-RECEPTOR GENE IS ASSOCIATED WITH A MILD CLINICAL PHENOTYPE IN A PATIENT WITH HETEROZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA (FH)

      Human molecular genetics
    32. SOUTAR AK
      HEART-DISEASE - DADDIES AND TIMEBOMBS

      Trends in genetics
    33. GUDNASON V; PATEL D; SUN XM; HUMPHRIES S; SOUTAR AK; KNIGHT BL
      EFFECT OF THE STUI POLYMORPHISM IN THE LDL RECEPTOR GENE (ALA-370 TO THR) ON LIPID-LEVELS IN HEALTHY-INDIVIDUALS

      Clinical genetics
    34. PATEL DD; SOUTAR AK; KNIGHT BL
      ABNORMAL STRUCTURE AND COOPERATIVE BINDING OF LOW-DENSITY-LIPOPROTEINRECEPTORS CONTAINING THE GLU-80-]LYS MUTATION

      Biochimica et biophysica acta, L. Lipids and lipid metabolism
    35. VIGUSHIN DM; GOUGH J; ALLAN D; ALGUACIL A; PENNER B; PETTIGREW NM; QUINONEZ G; BERNSTEIN K; BOOTH SE; BOOTH DR; SOUTAR AK; HAWKINS PN; PEPYS MB
      FAMILIAL NEPHROPATHIC SYSTEMIC AMYLOIDOSIS CAUSED BY APOLIPOPROTEIN AL VARIANT ARG26

      Quarterly Journal of Medicine
    36. STALENHOEF AFH; ARMSTRONG VW; HUMPHRIES S; SCHMITZ G; SOUTAR AK; TASKINEN MR
      THE 16TH ANNUAL-MEETING OF THE EUROPEAN-LIPOPROTEIN-CLUB

      Arteriosclerosis and thrombosis
    37. SUN XM; PATEL DD; WEBB JC; KNIGHT BL; FAN LM; CAI HJ; SOUTAR AK
      FAMILIAL HYPERCHOLESTEROLEMIA IN CHINA - IDENTIFICATION OF MUTATIONS IN THE LDL-RECEPTOR GENE THAT RESULT IN A RECEPTOR-NEGATIVE PHENOTYPE

      Arteriosclerosis and thrombosis
    38. WEBB JC; PATEL DD; JONES MD; KNIGHT BL; SOUTAR AK
      CHARACTERIZATION AND TISSUE-SPECIFIC EXPRESSION OF THE HUMAN VERY-LOW-DENSITY LIPOPROTEIN (VLDL) RECEPTOR MESSENGER-RNA

      Human molecular genetics
    39. SHOVLIN CL; SIMMONDS HA; FAIRBANKS LD; DEACOCK SJ; HUGHES JMB; LECHLER RI; WEBSTER ADB; SUN XM; WEBB JC; SOUTAR AK
      ADULT-ONSET IMMUNODEFICIENCY CAUSED BY INHERITED ADENOSINE-DEAMINASE DEFICIENCY

      The Journal of immunology
    40. PEROMBELON YFN; SOUTAR AK; KNIGHT BL
      VARIATION IN LIPOPROTEIN(A) CONCENTRATION ASSOCIATED WITH DIFFERENT APOLIPOPROTEIN(A) ALLELES

      The Journal of clinical investigation
    41. FEHER MD; WEBB JC; PATEL DD; LANT AF; MAYNE PD; KNIGHT BL; SOUTAR AK
      CHOLESTEROL-LOWERING DRUG-THERAPY IN A PATIENT WITH RECEPTOR-NEGATIVEHOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA

      Atherosclerosis


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 21/10/20 alle ore 17:32:02