Clinical Genetics

Cover image for Clinical Genetics

July 2001

Volume 60, Issue 1

Pages 1–88

  1. Mini Review

    1. Top of page
    2. Mini Review
    3. HotSpots
    4. Original Articles
    5. Short Reports
    6. Letters to the Editor
    1. Flow cytometry: an ‘old’ tool for novel applications in medical genetics (pages 1–8)

      N Wedemeyer and T Pötter

      Version of Record online: 20 DEC 2001 | DOI: 10.1034/j.1399-0004.2001.600101.x

  2. HotSpots

    1. Top of page
    2. Mini Review
    3. HotSpots
    4. Original Articles
    5. Short Reports
    6. Letters to the Editor
    1. A super sensor for DNA integrity: bigger is better (pages 9–10)

      Susan E Andrew

      Version of Record online: 20 DEC 2001 | DOI: 10.1034/j.1399-0004.2001.600102.1.x

    2. Sequestering CBP: the problem with expanded polyglutamine repeats (pages 10–11)

      Susan E Andrew

      Version of Record online: 20 DEC 2001 | DOI: 10.1034/j.1399-0004.2001.600102.2.x

    3. When p63 goes awry: SAM domain mutations (pages 11–12)

      Susan E Andrew

      Version of Record online: 20 DEC 2001 | DOI: 10.1034/j.1399-0004.2001.600102.3.x

  3. Original Articles

    1. Top of page
    2. Mini Review
    3. HotSpots
    4. Original Articles
    5. Short Reports
    6. Letters to the Editor
    1. Maternal component in the familial aggregation of hypertension (pages 13–21)

      AL DeStefano, H Gavras, N Heard-Costa, M Bursztyn, A Manolis, LA Farrer, CT Baldwin, I Gavras and F Schwartz

      Version of Record online: 20 DEC 2001 | DOI: 10.1034/j.1399-0004.2001.600103.x

    2. Familial resemblance for glucose and insulin metabolism indices derived from an intravenous glucose tolerance test in Blacks and Whites of the HERITAGE Family Study (pages 22–30)

      Y Hong, SJ Weisnagel, T Rice, G Sun, SA Mandel, C Gu, T Rankinen, J Gagnon, AS Leon, JS Skinner, JH Wilmore, RN Bergman, C Bouchard and DC Rao

      Version of Record online: 20 DEC 2001 | DOI: 10.1034/j.1399-0004.2001.600104.x

    3. Alpha-1-antitrypsin PI phenotypes S and Z in Europe: an analysis of the published surveys (pages 31–41)

      I Blanco, E Fernández and EF Bustillo

      Version of Record online: 20 DEC 2001 | DOI: 10.1034/j.1399-0004.2001.600105.x

  4. Short Reports

    1. Top of page
    2. Mini Review
    3. HotSpots
    4. Original Articles
    5. Short Reports
    6. Letters to the Editor
    1. Risk of obstetric cholestasis in sisters of index patients (pages 42–45)

      M-L Eloranta, S Heinonen, T Mononen and S Saarikoski

      Version of Record online: 20 DEC 2001 | DOI: 10.1034/j.1399-0004.2001.600106.x

    2. Identification of fifteen novel mutations and genotype–phenotype relationship in Fabry disease (pages 46–51)

      GM Altarescu, LG Goldfarb, K-Y Park, C Kaneski, N Jeffries, S Litvak, JW Nagle and R Schiffmann

      Version of Record online: 20 DEC 2001 | DOI: 10.1034/j.1399-0004.2001.600107.x

    3. Both alleles of the M235T polymorphism of the angiotensinogen gene can be a risk factor for myocardial infarction (pages 52–57)

      N Fernández-Arcás, JL Dieguez-Lucena, E Muñoz-Morán, M Ruiz-Galdón, S Espinosa-Caliani, P Aranda-Lara, F Rius-Diaz, MJ Gaitán-Arroyo, E De Teresa-Galván and A Reyes-Engel

      Version of Record online: 20 DEC 2001 | DOI: 10.1034/j.1399-0004.2001.600108.x

    4. Haplotype analysis of the USH1D locus and genotype–phenotype correlations (pages 58–62)

      X-Z Liu, SH Blanton, M Bitner-Glindzicz, A Pandya, B Landa, B MacArdle, K Rajput, S Bellman, BT Webb, X Ping, RJH Smith and WE Nance

      Version of Record online: 20 DEC 2001 | DOI: 10.1034/j.1399-0004.2001.600109.x

    5. Hemochromatosis mutations C282Y and H63D in ‘cis’ phase (pages 68–72)

      LG Best, PE Harris and EL Spriggs

      Version of Record online: 20 DEC 2001 | DOI: 10.1034/j.1399-0004.2001.600111.x

  5. Letters to the Editor

    1. Top of page
    2. Mini Review
    3. HotSpots
    4. Original Articles
    5. Short Reports
    6. Letters to the Editor
    1. Tetrasomy 21 due to a de novo Robertsonian translocation t(14;21) and an additional free trisomy 21 (pages 83–85)

      T Liehr, V Beensen, H Starke, R Hauschild, E Hempell, V Fritsche, C Hoppe, G Großwendt, M Prechtel, M Ziegler, U Claussen and F Von Eggeling

      Version of Record online: 20 DEC 2001 | DOI: 10.1034/j.1399-0004.2001.600114.x

    2. Lack of mutations in the RANK gene in Spanish patients with Paget disease of bone (pages 86–88)

      M Marco-Mingot, JL San-Millán, W Wuyts, J Bachiller-Corral, W Van Hul and AA Morales-Piga

      Version of Record online: 20 DEC 2001 | DOI: 10.1034/j.1399-0004.2001.600115.x

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