Clinical Genetics

Cover image for Clinical Genetics

January 1992

Volume 41, Issue 1

Pages 1–56

  1. Original Article

    1. Top of page
    2. Original Article
    3. Case Report
    1. Gaudier patients with oculomotor abnormalities do not have a unique genotype (pages 1–5)

      Ellen Sidransky, Shoji Tsujl, Barbara K. Stubblefield, Jon Gurrie, Edfflond J. FitzGibbon and Edward I. Glnns

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1992.tb03618.x

    2. An HLA study in 74 Danish haemochromatosis patients and in 21 of their families (pages 6–11)

      Nils Milman, Niels Graudal, Lillian Staub Nielsen and Kirsten Fenger

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1992.tb03619.x

    3. Birth prevalence studies of the Crouzon syndrome: comparison of direct and indirect methods (pages 12–15)

      M. Michael Cohen Jr. and Sven Krelborg

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1992.tb03620.x

    4. Mental retardation with blepharo-naso-facial abnormalities and hand malformations: a new syndrome? (pages 22–24)

      L. van Maldergem, C. Wetzburger, A. Verloes, C. Fourneau and Y. Gillerot

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1992.tb03622.x

    5. Interstitial deletion of chromosome 1 del (1) (q32 q42): case report and review of the literature (pages 25–27)

      P. Sarda, G. Lefort, S. Taviaux, C. Humeau and D. Rieu

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1992.tb03623.x

    6. Further evidence consistent with Yqh as an indicator of risk of gonadal blastoma in Y-bearing mosaic Turner syndrome (pages 28–32)

      Miguel A. de Arce, Colm Costigan, John R. Gosden, Mark Lawler and Peter Humphries

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1992.tb03624.x

    7. Fragile site Xq27.3 in a family without mental retardation (pages 33–35)

      Dennis R. Romain and Cyril J. Chapman

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1992.tb03625.x

    8. Trisomy 18 mosaicism with complete peripheral lymphocyte trisomy and normal intelligence (pages 36–38)

      David A. Graham, Monique M. Jewitt and Peter H. Fitzgerald

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1992.tb03626.x

    9. Homozygosity for the transthyretin-Met30-gene in seven individuals with familial amyloidosis with polyneuropathy detected by restriction enzyme analysis of amplified genomic DNA sequences (pages 39–41)

      Gōsta Holmgren, Sven Bergström, Ulf Drugge, Erik Lundgren, Carin Nording-Sikström, Ola Sandgren and Lars Steen

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1992.tb03627.x

    10. On the variable expression of the Brachmann-de Lange syndrome (pages 42–45)

      Christina de Oie-Smulders, Pierre Theunissen, Connie Schrander-Stumpel and Jean Pierre Frljns

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1992.tb03628.x

  2. Case Report

    1. Top of page
    2. Original Article
    3. Case Report
    1. Treatment for B-cell-type lymphoma in a girl associated with Bloom's syndrome (pages 46–50)

      Setsuo Oto, Shigeki Miyamoto, Fumiyo Kudoh, Hirosbi Horie, Naoko Kinugawa and Yuri Okimoto

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1992.tb03629.x

    2. Severe Silver-Russell syndrome and translocation (17;20) (q25;q13) (pages 51–53)

      M. L. Ramírez-Dueñas, C. Medina, R. Ocampo-Campos and H. Rivera

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1992.tb03630.x

    3. A unique de novo interstitial deletion del(17) (q21.3q23) in a phenotypically abnormal infant (pages 54–56)

      Jonathan P. Park, John B. Moeschler, Susan Z. Berg, Ranee M. Bauer and Doris H. Wurster-Hill

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1992.tb03631.x

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