Clinical Genetics

Cover image for Clinical Genetics

May 2001

Volume 59, Issue 5

Pages 293–374

  1. Mini Review

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

    1. Top of page
    2. Mini Review
    3. HotSpots
    4. Developmental Biology: Frontiers for Clinical Genetics
    5. Original Articles
    6. Short Reports
    7. Letters to the Editor
    8. Announcements
    1. Paranoia in plants (pages 302–303)

      J Nasir

      Version of Record online: 12 JAN 2002 | DOI: 10.1034/j.1399-0004.2001.590502.x

  3. Developmental Biology: Frontiers for Clinical Genetics

    1. Top of page
    2. Mini Review
    3. HotSpots
    4. Developmental Biology: Frontiers for Clinical Genetics
    5. Original Articles
    6. Short Reports
    7. Letters to the Editor
    8. Announcements
    1. The VACTERL association: lessons from the Sonic hedgehog pathway (pages 306–315)

      JH Kim, PCW Kim and C-C Hui

      Version of Record online: 12 JAN 2002 | DOI: 10.1034/j.1399-0004.2001.590503.x

  4. Original Articles

    1. Top of page
    2. Mini Review
    3. HotSpots
    4. Developmental Biology: Frontiers for Clinical Genetics
    5. Original Articles
    6. Short Reports
    7. Letters to the Editor
    8. Announcements
    1. The risk for congenital heart defects in offspring of individuals with congenital heart defects (pages 325–329)

      O Romano-Zelekha, R Hirsh, L Blieden, MS Green and T Shohat

      Version of Record online: 12 JAN 2002 | DOI: 10.1034/j.1399-0004.2001.590505.x

  5. Short Reports

    1. Top of page
    2. Mini Review
    3. HotSpots
    4. Developmental Biology: Frontiers for Clinical Genetics
    5. Original Articles
    6. Short Reports
    7. Letters to the Editor
    8. Announcements
    1. The DSL domain in mutant JAG1 ligand is essential for the severity of the liver defect in Alagille syndrome (pages 330–337)

      Zr Yuan, M Okaniwa, I Nagata, Y Tazawa, M Ito, H Kawarazaki, Y Inomata, S Okano, T Yoshida, N Kobayashi and T Kohsaka

      Version of Record online: 12 JAN 2002 | DOI: 10.1034/j.1399-0004.2001.590506.x

    2. Recurrent mutations in the COL1A2 gene in patients with osteogenesis imperfecta (pages 338–343)

      T Trummer, R Brenner, W Just, W Vogel and I Kennerknecht

      Version of Record online: 12 JAN 2002 | DOI: 10.1034/j.1399-0004.2001.590507.x

    3. Epidemiology of myotonic dystrophy in Italy: re-apprisal after genetic diagnosis (pages 344–349)

      G Siciliano, ML Manca, M Gennarelli, C Angelini, A Rocchi, A Iudice, M Miorin and ML Mostacciuolo

      Version of Record online: 12 JAN 2002 | DOI: 10.1034/j.1399-0004.2001.590508.x

    4. Relation of cardiac abnormalities and CTG-repeat size in myotonic dystrophy (pages 350–355)

      J Finsterer, E Gharehbaghi-Schnell, C Stöllberger, K Fheodoroff and A Seiser

      Version of Record online: 12 JAN 2002 | DOI: 10.1034/j.1399-0004.2001.590509.x

    5. Risk factors for cataract in Chinese patients with type 2 diabetes: evidence for the influence of the aldose reductase gene (pages 356–359)

      SC Lee, Y Wang, GTC Ko, RCW Ma, JAJH Critchley, CS Cockram and JCN Chan

      Version of Record online: 12 JAN 2002 | DOI: 10.1034/j.1399-0004.2001.590510.x

  6. Letters to the Editor

    1. Top of page
    2. Mini Review
    3. HotSpots
    4. Developmental Biology: Frontiers for Clinical Genetics
    5. Original Articles
    6. Short Reports
    7. Letters to the Editor
    8. Announcements
    1. Novel mutation of the Spastin gene in familial spastic paraplegia (pages 364–365)

      Astrid De Bantel, Shona McWilliams, Davgadorj Auysh, Charles Echol, Nyamkhishig Sambuughin and Kumaraswamy Sivakumar

      Version of Record online: 12 JAN 2002 | DOI: 10.1034/j.1399-0004.2001.590512.x

    2. A nonsense mutation in TRPS1 in a Japanese family with tricho-rhino-phalangeal syndrome type I (pages 366–367)

      Ikuji Hatamura, Yumiko Kanauchi, Masatoshi Takahara, Masao Fujiwara, Yasuteru Muragaki, Akira Ooshima and Toshihiko Ogino

      Version of Record online: 12 JAN 2002 | DOI: 10.1034/j.1399-0004.2001.590513.x

    3. IRS1 and GRB2 as members of the IGF signal transduction pathway are not associated with intrauterine growth retardation and Silver–Russell syndrome (pages 371–373)

      T Eggermann, P Kloos, S Mergenthaler, K Eggermann, M Dobos, MB Ranke and HA Wollmann

      Version of Record online: 12 JAN 2002 | DOI: 10.1034/j.1399-0004.2001.590515.x

  7. Announcements

    1. Top of page
    2. Mini Review
    3. HotSpots
    4. Developmental Biology: Frontiers for Clinical Genetics
    5. Original Articles
    6. Short Reports
    7. Letters to the Editor
    8. Announcements
    1. British Human Genetics Conference (page 374)

      Version of Record online: 12 JAN 2002 | DOI: 10.1034/j.1399-0004.2001.590516.x

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