Clinical Genetics

Cover image for Clinical Genetics

April 1998

Volume 53, Issue 4

Pages 233–322

  1. Original Article

    1. Top of page
    2. Original Article
    3. HotSpots
    4. Original Article
    5. Short Report
    6. Letter to the Editor
    1. The fatal attraction of polyglutamine-containing proteins (pages 233–242)

      Abigail S Hackam, Cheryl L Wellington and Michael R Hayden

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1998.tb02687.x

  2. HotSpots

    1. Top of page
    2. Original Article
    3. HotSpots
    4. Original Article
    5. Short Report
    6. Letter to the Editor
    1. A novel Ashkenazi predisposing mutation (pages 243–244)

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1998.tb02688.x

  3. Original Article

    1. Top of page
    2. Original Article
    3. HotSpots
    4. Original Article
    5. Short Report
    6. Letter to the Editor
    1. Detection and incidence of cryptic Y chromosome sequences in Turner syndrome patients (pages 249–257)

      Philippos C Patsalis, Carolina Sismani, Michael I Hadjimarcou, Sophia Kitsiou-Tzeli, Aspasia Tzezou, Charalambos G Hadjiathanasiou, Voula Velissariou, Evangelia Lymberatou, Nicholas K Moschonas and Nicos Skordis

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1998.tb02691.x

    2. Sex ratio and absence of uniparental disomy in spontaneous abortions with a normal karyotype (pages 258–261)

      Martin J Smith, Michael R Creasy, Angus Clarke and Meena Upadhyaya

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1998.tb02692.x

  4. Short Report

    1. Top of page
    2. Original Article
    3. HotSpots
    4. Original Article
    5. Short Report
    6. Letter to the Editor
    1. Discordant repeat size and phenotype in Kennedy syndrome (pages 276–277)

      PJ Morrison, M. Mirakhur and VH Patterson

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1998.tb02695.x

    2. Wilms' tumor and gonadal dysgenesis in a child with the 2q37.1 deletion syndrome (pages 278–280)

      G. Viot-Szoboszlai, J. Amiel, F. Doz, M. Prieur, J. Couturier, JN Zucker, I. Henry, A. Munnich, M. Vekemans and S. Lyonnet

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1998.tb02696.x

    3. A novel mutation of the β-glucocererebrosidase gene associated with neurologic manifestations in three sibs (pages 281–285)

      Giancarlo Parenti, Mirella Filocamo, Luigi Titomanlio, M Grazia Rizzolo, Eufrasia Silvestro, Anna Perretti, Rosanna Gatti and Generoso Andria

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1998.tb02697.x

    4. Prenatal diagnosis of low level trisomy 15 mosaicism: review of the literature (pages 286–292)

      AL Zaslav, S. Fallet, S. Brown, R. Ebert, A. Fleischer, E. Valderama and JE Fox

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1998.tb02698.x

    5. Molecular and cytogenate analysis of an X/autosomal translocation: 45, X, dic(X;17)(p22.2;p13) (pages 293–297)

      Thomas Eggermann, Ulrike Mau, Ute Klein-Vogler, Heidemarie Kendziorra, Susanne Mackensen-Haen, Ludger Sieverding, Herbert Enders and Peter Kaiser

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1998.tb02699.x

    6. Complex chromosomal rearrangements associated with congenital erythrophagocytotic histiocytosis (pages 298–302)

      Susanne Edelhoff, Caspar Grond-Ginsbach, Ferdinand von Eggeling, Dieter Körholz, Ulrich Göbel and Gabriele Senger

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1998.tb02700.x

    7. Apparent normalisation of fetal renal size in autosomal dominant polycystic kidney disease (PKD1) (pages 303–307)

      Steve Jeffery, Anand K Saggar-Malik, Demetrios L Economides, Sally E Blackmore and Kay D MacDermot

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1998.tb02701.x

    8. Kabuki (Niikawa-Kuroki) syndrome associated with immunodeficiency (pages 308–312)

      Krystyna H Chrzanowska, M. Krajewska-Walasek, J. Kuś, J. Michalkdewicz, D. Maziarka, JK Wolski, L. Brecevic and K. Madaliński

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1998.tb02702.x

    9. Tetranucleotide repeat polymorphism at the CCSP gene (pages 313–314)

      Hasan Khatib

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1998.tb02703.x

    10. A novel Mbo II polymorphism in exon 15 of the human adenomatous polyposis coli gene (pages 315–316)

      Marina De Rosa, M Irene Scarano, Luigi Panariello, Francesco Salvatore and Paola Izzo

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1998.tb02704.x

  5. Letter to the Editor

    1. Top of page
    2. Original Article
    3. HotSpots
    4. Original Article
    5. Short Report
    6. Letter to the Editor
    1. Cerebral aqueductal stenosis as a presentation of deletion 6q25-qter (pages 317–318)

      Susan Koh Richard G. Boles

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1998.tb02705.x

    2. Two cases of prenatally diagnosed diaphragmatic hernia accompanied by the same undescribed chromosomal deletion (15q24 de novo) (pages 319–320)

      D. Bettelheim, M. Hengstschläger, R. Drahonsky, W. Eppel and G. Bernaschek

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1998.tb02706.x

    3. Apolipoprotein E alleles in mothers of trisomy 18 conceptuses (pages 321–322)

      Claus Hansen, Merete Bugge, Carsten A Brandt, Jens M Hertz, Lisbeth Tranebjærg, Margareta Mikkelsen and Michael B Petersen

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1998.tb02707.x

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