Clinical Genetics

Cover image for Clinical Genetics

April 1996

Volume 49, Issue 4

Pages 167–222

  1. Invited Review

    1. Top of page
    2. Invited Review
    3. Original Article
    4. Case Report
    1. How often has Lp(a) evolved? (pages 167–174)

      Richard M. Lawn

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb03281.x

  2. Original Article

    1. Top of page
    2. Invited Review
    3. Original Article
    4. Case Report
    1. A G-1-to-A acceptor splice site LDLR mutant allele leads to reduced relative transcript levels in patients with heterozygous familial hypercholesterolemia (pages 175–179)

      H. K. Jensen, L. G. Jensen, P. S. Hansen, L. Bolund, D. Færgeman and N. Gregersen

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb03282.x

    2. Two novel mutations in the LDL receptor gene: common causes of familial hypercholesterolemia in a Spanish population (pages 180–185)

      A. Cenarro, H. K. Jensen, F. Civeira, E. Casao, J. Ferrando, J. González-Bonillo, M. Pocovi and N. Gregersen

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb03283.x

    3. RYR mutation G1021A (Gly341Arg) is not frequent in Danish and Swedish families with malignant hyperthermia susceptibility (pages 186–188)

      T. Fagerlund, H. Øding, D. Bendixen, G. Islander, E. Ranklev-Twetman and K. Berg

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb03284.x

    4. A comparative study of X-inactivation in Rett syndrome probands and control subjects (pages 189–195)

      T. Webb and E. Watkiss

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb03285.x

    5. Maternal origin of transferrin receptor positive cells in venous blood of pregnant women (pages 196–199)

      Anna Slunga-Tallberg, Wa'el El-Rifai, Mauri Keinänen, Kari Ylinen, Tapio Kurki, Katherine Klinger, Olavi Ylikorkala, Marcelo L. Larramendy and Sakari Knuutila

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb03286.x

    6. Psychological and social impact of carrier screening for cystic fibrosis among pregnant women — a pilot study (pages 200–205)

      Hans Clausen, Niels Jacob Brandt, Marianne Schwartz and Flemming Skovby

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb03287.x

  3. Case Report

    1. Top of page
    2. Invited Review
    3. Original Article
    4. Case Report
    1. De novo 46,XX, dir dup (11)(q13.3[RIGHTWARDS ARROW]q14.2) in a patient with mental retardation, congenital cardiopathy and thrombopenia (pages 206–210)

      E. Legius, I. Wlodarska, L. Selleri, G. A. Evans, R. Wu, G. Smet and J. P. Fryns

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb03288.x

    2. Dandy-Walker malformation and polydactyly: a possible expression of hydrolethalus syndrome (pages 211–215)

      Eva Morava, K. Adamovich and A. E. Czeizel

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb03289.x

    3. Multiple congenital malformations in an infant prenatally diagnosed with mosaicism for dup(1q) and del(Xq) (pages 216–219)

      Steven R. Wells, Jeffrey A. Kuller, Kathleen W. Rao and Arthur S. Aylsworth

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb03290.x

    4. A case report: corpus callosum dysgenesis, microcephaly, infantile spasm, cleft lip-palate, exophthalmos and psychomotor retardation (pages 220–222)

      S. Tütüncüoglu, F. Özkinay, F. Genel, N. Uran and T. Özgür

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1996.tb03291.x

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