Clinical Genetics

Cover image for Clinical Genetics

August 1999

Volume 56, Issue 2

Pages 105–177

  1. Mini Review

    1. Top of page
    2. Mini Review
    3. HotSpots
    4. Original Articles
    5. Short Reports
    6. Original Articles
    7. Short Reports
    8. Letters to the Editor
    9. Original Articles
    10. Letters to the Editor
    11. Original Articles
    1. Genetic aspects of population policy (pages 105–109)

      Newton E Morton

      Article first published online: 4 NOV 2008 | DOI: 10.1034/j.1399-0004.1999.560201.x

  2. HotSpots

    1. Top of page
    2. Mini Review
    3. HotSpots
    4. Original Articles
    5. Short Reports
    6. Original Articles
    7. Short Reports
    8. Letters to the Editor
    9. Original Articles
    10. Letters to the Editor
    11. Original Articles
    1. HotSpots - Insufficient death: autoimmune lymphoproliferative syndrome (pages 110–111)

      Cheryl Wellington and Abigail S. Hackam

      Article first published online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.1999.560202.x

    2. HotSpots - Cutting it close: new insights into presenilin-1 function (pages 112–113)

      Cheryl Wellington and Abigail S. Hackam

      Article first published online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.1999.5602021.x

    3. HotSpots - An unusual ataxia (pages 113–115)

      Cheryl Wellington and Abigail S. Hackam

      Article first published online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.1999.5602022.x

  3. Original Articles

    1. Top of page
    2. Mini Review
    3. HotSpots
    4. Original Articles
    5. Short Reports
    6. Original Articles
    7. Short Reports
    8. Letters to the Editor
    9. Original Articles
    10. Letters to the Editor
    11. Original Articles
    1. Genetic landmarks through philately – Kabuki theater and Kabuki syndrome (pages 116–117)

      Aizeddin A Mhanni and Albert E Chudley

      Article first published online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.1999.560203.x

  4. Short Reports

    1. Top of page
    2. Mini Review
    3. HotSpots
    4. Original Articles
    5. Short Reports
    6. Original Articles
    7. Short Reports
    8. Letters to the Editor
    9. Original Articles
    10. Letters to the Editor
    11. Original Articles
    1. FISH analysis with locus-specific probes in sperm from two translocation carrier men (pages 129–135)

      Beyhan Durak, Yavuz Hakan Özön, Muhsin Özdemir, Sevilhan Artan, Nurettin Basaran, Seher Basaran and Cihangir Özkinay

      Article first published online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.1999.560206.x

    2. STK11/LKB1 germline mutations are not identified in most Peutz–Jeghers syndrome patients (pages 136–141)

      Cao-Yang Jiang, Susmita Esufali, Terri Berk, Steven Gallinger, Zane Cohen, Martin Tobi, Mark Redston and Bharati Bapat

      Article first published online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.1999.560207.x

    3. Possible interaction of genotypes at cystathionine β-synthase and methylenetetrahydrofolate reductase (MTHFR) in neural tube defects (pages 142–144)

      MC Speer, J Nye, D McLone, G Worley, EC Melvin, KD Viles, A Franklin, C Drake, J Mackey, TM George and NTD Collaborative Group

      Article first published online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.1999.560208.x

  5. Original Articles

    1. Top of page
    2. Mini Review
    3. HotSpots
    4. Original Articles
    5. Short Reports
    6. Original Articles
    7. Short Reports
    8. Letters to the Editor
    9. Original Articles
    10. Letters to the Editor
    11. Original Articles
    1. Short rib-polydactyly syndrome: more evidence of a continuous spectrum (pages 145–148)

      Kyriake Sarafoglou, Edmund F Funai, Nancy Fefferman, Laura Zajac, Nancy Geneiser, Michael J Paidas, Alba Greco and Robert Wallerstein

      Article first published online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.1999.560209.x

  6. Short Reports

    1. Top of page
    2. Mini Review
    3. HotSpots
    4. Original Articles
    5. Short Reports
    6. Original Articles
    7. Short Reports
    8. Letters to the Editor
    9. Original Articles
    10. Letters to the Editor
    11. Original Articles
    1. Aicardi–Goutières syndrome: monogenic recessive disease, genetically heterogeneous disease, or multifactorial disease? (pages 149–153)

      Sabine Fauré, Isabelle Bordelais, Catherine Marquette, Chris Rittey, Jaime Campos-Castello, Françoise Goutières, Gérard Ponsot, Jean Weissenbach and Pierre Lebon

      Article first published online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.1999.560210.x

    2. Kabuki syndrome: description of dental findings in 8 patients (pages 154–157)

      AA Mhanni, HG Cross and AE Chudley

      Article first published online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.1999.560211.x

    3. Physical activity modulates the effect of a lipoprotein lipase mutation (D9N) on plasma lipids and lipoproteins (pages 158–163)

      Jolanda MA Boer, Jan Albert Kuivenhoven, Edith JM Feskens, Evert G Schouten, Louis M Havekes, Jacob C Seidell, John JP Kastelein and Daan Kromhout

      Article first published online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.1999.560212.x

  7. Letters to the Editor

    1. Top of page
    2. Mini Review
    3. HotSpots
    4. Original Articles
    5. Short Reports
    6. Original Articles
    7. Short Reports
    8. Letters to the Editor
    9. Original Articles
    10. Letters to the Editor
    11. Original Articles
    1. Serum total IgE levels and CD14 on chromosome 5q31 (pages 164–165)

      P-S Gao, X-Q Mao, M Baldini, MH Roberts, CN Adra, T Shirakawa, PG Holt, FD Martinez and JM Hopkin

      Article first published online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.1999.560213.x

    2. Association between CAG repeat number in the androgen receptor and male infertility in a Belgian study (pages 166–167)

      E Legius, D Vanderschueren, C Spiessens, T D'Hooghe and G Matthijs

      Article first published online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.1999.560214.x

    3. High frequency of type 1 GM1 gangliosidosis in southern Brazil (pages 168–169)

      Márcia HA Severini, CD Silva, A Sopelsa, JC Coelho and R Giugliani

      Article first published online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.1999.560215.x

  8. Original Articles

    1. Top of page
    2. Mini Review
    3. HotSpots
    4. Original Articles
    5. Short Reports
    6. Original Articles
    7. Short Reports
    8. Letters to the Editor
    9. Original Articles
    10. Letters to the Editor
    11. Original Articles
    1. Scalp-ear-nipple (Finlay–Marks) syndrome: a familial case with renal involvement (pages 170–172)

      C Picard, S Couderc, T Skojaei, R Salomon, P De Lonlay, M Le Merrer, A Munnich, S Lyonnet and J Amiel

      Article first published online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.1999.560216.x

  9. Letters to the Editor

    1. Top of page
    2. Mini Review
    3. HotSpots
    4. Original Articles
    5. Short Reports
    6. Original Articles
    7. Short Reports
    8. Letters to the Editor
    9. Original Articles
    10. Letters to the Editor
    11. Original Articles
    1. A Japanese patient homozygous for the H1085R mutation in the CFTR gene presents with a severe form of cystic fibrosis (pages 173–175)

      Kunihiko Yoshimura, Yoshihiro Wakazono, Sayoko Iizuka, Nasa Morokawa, Hiroko Tada and Yoshikatsu Eto

      Article first published online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.1999.560217.x

  10. Original Articles

    1. Top of page
    2. Mini Review
    3. HotSpots
    4. Original Articles
    5. Short Reports
    6. Original Articles
    7. Short Reports
    8. Letters to the Editor
    9. Original Articles
    10. Letters to the Editor
    11. Original Articles
    1. Correspondence (page 176)

      L De Smet and JP Fryns

      Article first published online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.1999.560218.x

    2. Correspondence (page 177)

      An Author

      Article first published online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.1999.560219.x

SEARCH

SEARCH BY CITATION