Clinical Genetics

Cover image for Clinical Genetics

September 2000

Volume 58, Issue 3

Pages 157–239

  1. Mini Review

    1. Top of page
    2. Mini Review
    3. HotSpots
    4. Original Articles
    5. Short Reports
    6. Letters to the Editor
    7. Announcements
  2. HotSpots

    1. Top of page
    2. Mini Review
    3. HotSpots
    4. Original Articles
    5. Short Reports
    6. Letters to the Editor
    7. Announcements
  3. Original Articles

    1. Top of page
    2. Mini Review
    3. HotSpots
    4. Original Articles
    5. Short Reports
    6. Letters to the Editor
    7. Announcements
    1. How men view genetic testing for prostate cancer risk: findings from focus groups (pages 169–176)

      DJ Doukas, MD Fetters, JC Coyne and LB McCullough

      Article first published online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.580303.x

    2. Polymorphisms of human SP-A, SP-B, and SP-D genes: association of SP-B Thr131Ile with ARDS (pages 181–191)

      Z Lin, C Pearson, V Chinchilli, SM Pietschmann, J Luo, U Pison and J Floros

      Article first published online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.580305.x

    3. Analysis of sex chromosome aneuploidy in 41 patients with Turner syndrome: a study of ‘hidden’ mosaicism (pages 201–208)

      R Fernández-García, S García-Doval, S Costoya and E Pásaro

      Article first published online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.580307.x

  4. Short Reports

    1. Top of page
    2. Mini Review
    3. HotSpots
    4. Original Articles
    5. Short Reports
    6. Letters to the Editor
    7. Announcements
    1. Analysis of genomic instability using multiple assays in a patient with Rothmund–Thomson syndrome (pages 209–215)

      SG Grant, SL Wenger, JJ Latimer, D Thull and LW Burke

      Article first published online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.580308.x

    2. Familial Prader-Willi syndrome: case report and a literature review (pages 216–223)

      ME McEntagart, T Webb, C Hardy and MD King

      Article first published online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.580309.x

    3. A novel mutation (296 del G) of the SOX9 gene in a patient with campomelic syndrome and sex reversal (pages 224–227)

      S Ninomiya, Y Yokoyama, M Teraoka, R Mori, C Inoue, S Yamashita, H Tamai, M Funato and Y Seino

      Article first published online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.580310.x

    4. Identification of four novel mutations in five unrelated Korean families with Fabry disease (pages 228–233)

      J-K Lee, G-H Kim, J-S Kim, K-K Kim, M-C Lee and H-W Yoo

      Article first published online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.580311.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
    7. Announcements
    1. Angiotensin II type 1 receptor gene polymorphism is associated with the severity but not prevalence of coronary artery disease (pages 237–238)

      R Surber, HH Sigusch, MH Lehmann, D Reinhardt, A Hoffmann and HR Figulla

      Article first published online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.580313.x

  6. Announcements

    1. Top of page
    2. Mini Review
    3. HotSpots
    4. Original Articles
    5. Short Reports
    6. Letters to the Editor
    7. Announcements

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