Clinical Genetics

Cover image for Clinical Genetics

November 2000

Volume 58, Issue 5

Pages 341–413

  1. Mini Review

    1. Top of page
    2. Mini Review
    3. Commentary
    4. HotSpots
    5. Developmental Biology: Frontiers for Clinical Genetics
    6. Opinion
    7. Commentary
    8. Original Articles
    9. Short Reports
    10. Letters to the Editor
    11. Announcements
  2. Commentary

    1. Top of page
    2. Mini Review
    3. Commentary
    4. HotSpots
    5. Developmental Biology: Frontiers for Clinical Genetics
    6. Opinion
    7. Commentary
    8. Original Articles
    9. Short Reports
    10. Letters to the Editor
    11. Announcements
  3. HotSpots

    1. Top of page
    2. Mini Review
    3. Commentary
    4. HotSpots
    5. Developmental Biology: Frontiers for Clinical Genetics
    6. Opinion
    7. Commentary
    8. Original Articles
    9. Short Reports
    10. Letters to the Editor
    11. Announcements
    1. Huntington's disease on a GeneChip (pages 348–349)

      J Nasir

      Article first published online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.580503.1.x

    2. A glutamine-rich protein involved in Notch signalling (pages 349–350)

      J Nasir

      Article first published online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.580503.2.x

  4. Developmental Biology: Frontiers for Clinical Genetics

    1. Top of page
    2. Mini Review
    3. Commentary
    4. HotSpots
    5. Developmental Biology: Frontiers for Clinical Genetics
    6. Opinion
    7. Commentary
    8. Original Articles
    9. Short Reports
    10. Letters to the Editor
    11. Announcements
  5. Opinion

    1. Top of page
    2. Mini Review
    3. Commentary
    4. HotSpots
    5. Developmental Biology: Frontiers for Clinical Genetics
    6. Opinion
    7. Commentary
    8. Original Articles
    9. Short Reports
    10. Letters to the Editor
    11. Announcements
  6. Commentary

    1. Top of page
    2. Mini Review
    3. Commentary
    4. HotSpots
    5. Developmental Biology: Frontiers for Clinical Genetics
    6. Opinion
    7. Commentary
    8. Original Articles
    9. Short Reports
    10. Letters to the Editor
    11. Announcements
  7. Original Articles

    1. Top of page
    2. Mini Review
    3. Commentary
    4. HotSpots
    5. Developmental Biology: Frontiers for Clinical Genetics
    6. Opinion
    7. Commentary
    8. Original Articles
    9. Short Reports
    10. Letters to the Editor
    11. Announcements
    1. The common mutations in the lipoprotein lipase gene in Italy: effects on plasma lipids and angiographically assessed coronary atherosclerosis (pages 369–374)

      M Arca, F Campagna, A Montali, F Barillà, E Mangieri, G Tanzilli, F Seccareccia, PP Campa, G Ricci and G Pannitteri

      Article first published online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.580507.x

    2. A multivariate analysis of 59 candidate genes in personality traits: the temperament and character inventory (pages 375–385)

      DE Comings, R Gade-Andavolu, N Gonzalez, S Wu, D Muhleman, H Blake, MB Mann, G Dietz, G Saucier and JP MacMurray

      Article first published online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.580508.x

  8. Short Reports

    1. Top of page
    2. Mini Review
    3. Commentary
    4. HotSpots
    5. Developmental Biology: Frontiers for Clinical Genetics
    6. Opinion
    7. Commentary
    8. Original Articles
    9. Short Reports
    10. Letters to the Editor
    11. Announcements
    1. Sudden death caused by pulmonary thromboembolism in Proteus syndrome (pages 386–389)

      AM Slavotinek, SJ Vacha, KF Peters and LG Biesecker

      Article first published online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.580509.x

    2. Kyphomelic dysplasia: a rare form of semilethal skeletal dysplasia (pages 390–395)

      C Prasad, BC Cramer, C Pushpanathan, MC Crowley and EJ Ives

      Article first published online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.580510.x

    3. Mutational analysis and genotype/phenotype correlation in Turkish Charcot–Marie–Tooth Type 1 and HNPP patients (pages 396–402)

      N Bissar-Tadmouri, Y Parman, L Boutrand, F Deymeer, P Serdaroglu, A Vandenberghe and E Battaloglu

      Article first published online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.580511.x

    4. Velo-cardio-facial phenotype and deletion of 22q11.2 in Hungarian children (pages 403–405)

      É Morava, M Czakó, B Melegh and G Kosztolányi

      Article first published online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.580512.x

  9. Letters to the Editor

    1. Top of page
    2. Mini Review
    3. Commentary
    4. HotSpots
    5. Developmental Biology: Frontiers for Clinical Genetics
    6. Opinion
    7. Commentary
    8. Original Articles
    9. Short Reports
    10. Letters to the Editor
    11. Announcements
    1. Glycogen storage disease type Ia and Sanfilippo syndrome type B in a patient with a balanced translocation (pages 409–410)

      SL Wenger, SC McIntire, V Bansal, JA Barranger, J Higgins, WF Balistreri, JN Thompson and R Deka

      Article first published online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.580514.x

    2. Familial amyloid polyneuropathy in a Spanish family with a transthyretin deletion (ΔVal 122) presenting with carpal tunnel syndrome (pages 411–412)

      M Munar-Qués, MJ Saraiva, J Ordeig-Calonge, P Moreira, R Pérez-Vidal, X Puig-Pujol, J Monells-Abel and JM Badal-Alter

      Article first published online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.580515.x

  10. Announcements

    1. Top of page
    2. Mini Review
    3. Commentary
    4. HotSpots
    5. Developmental Biology: Frontiers for Clinical Genetics
    6. Opinion
    7. Commentary
    8. Original Articles
    9. Short Reports
    10. Letters to the Editor
    11. Announcements

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