Clinical Genetics

Cover image for Clinical Genetics

February 1996

Volume 49, Issue 2

Pages 57–109

  1. Original Article

    1. Top of page
    2. Original Article
    3. Short Communication
    4. Announcement
    1. Preimplantation genetic testing for Huntington disease and certain other dominantly inherited disorders (pages 57–58)

      Joseph D. Schulman, Susan H. Black, Alan Handyside and Walter E. Nance

      Article first published online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb04327.x

    2. Neurofibromatosis/Noonan phenotype: a variable feature of type 1 neurofibromatosis (pages 59–64)

      A. Colley, D. Donnai and D. G. R. Evans

      Article first published online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb04328.x

    3. Neuropsychological aspects of Marfan syndrome (pages 65–69)

      E. Lannoo, A. De Paepe, B. Leroy and E. Thiery

      Article first published online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb04329.x

    4. Phocomelia, ectrodactyly, skull defect and urinary system anomaly: Schinzel-phocomelia syndrome? (pages 70–73)

      N. Evliyaoglu, A. K. Temoçin, D. U. Altmtas, N. Duman, N. Satar and D. Siileymanova

      Article first published online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb04330.x

    5. Association analyses of NsiI RFLP of human insulin receptor gene in hypertensives (pages 74–78)

      Andrew P. Schrader, Robert Y. L. Zee and Brian J. Morris

      Article first published online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb04331.x

    6. Identification of two apolipoprotein variants, A-I Karatsu (Tyr 100 [RIGHTWARDS ARROW] His) and A-I Kurume (His 162 [RIGHTWARDS ARROW] Gin) (pages 79–84)

      Kengo Moriyama, Jun Sasaki, Akira Matsunaga, Yoichi Takada, Masaaki Kagimoto and Kikuo Arakawa

      Article first published online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb04332.x

    7. Two novel missense mutations in the LDL receptor gene causing familial hypercholesterolemia (pages 85–87)

      Kaja E. Gundersen, Kari Solberg, Olaug K. Rødningen, Serena Tonstad, Leiv Ose, Kare Berg and Trond P. Leren

      Article first published online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb04333.x

    8. An Iranian-Armenian LDLR frameshift mutation causing familial hypercholesterolemia (pages 88–90)

      H. K. Jensen, L. G. Jensen, P. S. Hansen, O. Faergeman and N. Gregersen

      Article first published online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb04334.x

    9. Trisomy 18 mosaicism associated with secondary amenorrhea: ratios of mosaicism in different samples and complications (pages 91–94)

      S. Uehara, Y. Obara, T. Obara, T. Funato, N. Yaegashi, T. Fukaya and A. Yajima

      Article first published online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb04335.x

    10. Determination of cystic fibrosis carrier frequency for Zuni native Americans of New Mexico (pages 95–97)

      D. Kessler, C. Moehlenkamp and G. Kaplan

      Article first published online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb04336.x

    11. Microcephaly, seizures, genital hypoplasia, and abnormalities of the hands and feet in a 4-year-old boy with possible Wiedemann syndrome (pages 98–102)

      Dagmar Wieczorek, Gabriele Gillessen-Kaesbach, Sven Plewa and Eberhard Passarge

      Article first published online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb04337.x

    12. Mild CF in a ΔF508/R347H compound heterozygote woman: does the manifestation of this genotype differ in the two sexes? (pages 103–105)

      György Kosztolányi, Naseem Malik and Marcus Rutishauser

      Article first published online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb04338.x

  2. Short Communication

    1. Top of page
    2. Original Article
    3. Short Communication
    4. Announcement
    1. Screening for coeliac disease as a possible maternal risk factor for neural tube defect (pages 106–108)

      W. Dickey, F. Stewart, J. Nelson, G. McBreen, S. A. McMillan and K. G. Porter

      Article first published online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb04339.x

  3. Announcement

    1. Top of page
    2. Original Article
    3. Short Communication
    4. Announcement
    1. Announcement (page 109)

      Article first published online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1996.tb04340.x

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