Clinical Genetics

Cover image for Clinical Genetics

July 1997

Volume 52, Issue 1

Pages 1–70

  1. Original Article

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short Communication
    5. Short Report on DNA Marker at Candidate Locus
    6. Announcement
    1. Geographic distribution of French-Canadian low-density lipoprotein receptor gene mutations in the Province of Quebec (pages 1–6)

      Marie-Claude Vohl, Sital Moorjan, Madeleine Roy, Daniel Gaudet, Ana Lucia Torres, Ann Minnich, Claude Gagné, Gérald Tremblay, Marie Lambert, Jean Bergeron, Patrick Couture, Patrice Perron, Shirley Blaichman, Louis-Daniel Brun, Jean Davignon, Paul J. Lupien and Jean-Pierre Després

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02506.x

    2. Scintigraphic evaluation of Tc-99m-low-density lipoprotein (LDL) distribution in patients with Gaucher disease (pages 7–11)

      Mordechai Lorberboym, Shankar Vallabhajosula, Helena Lipszyc and Gregory Pastores

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02507.x

    3. Incomplete penetrance and expressivity skewing in hereditary multiple exostoses (pages 12–16)

      Laurence Legeai-Mallet, Arnold Munnich, Pierre Maroteaux and Martine Le Merrer

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02508.x

    4. Detection of dystrophin deletion carriers using FISH analysis (pages 17–22)

      S. Calvano, E. Memeo, M. R. Piemontese, S. Melchionda, L. Bisceglia, P. Gasparini and L. Zelante

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02509.x

    5. Cardio-facio-cutaneous (CFC) syndrome — a distinct entity? Report of three patients demonstrating the diagnostic difficulties in delineation of CFC syndrome (pages 37–46)

      Dagmar Wieczorek, Frank Majewski and Gabriele Giliessen-Kaesbach

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02512.x

    6. Benign familial microcytic thrombocytosis with autosomal dominant transmission (pages 47–50)

      Natan Cohen, Dorit Almoznino-Sarafian, Joshua Weissgarten, Irena Alon, Ronit Zaidenstein, Victor Dishi, Naomi Rahimi-Levene, Kalman Fried, David Modai and Ahuva Golik

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02513.x

  2. Case Report

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short Communication
    5. Short Report on DNA Marker at Candidate Locus
    6. Announcement
    1. Oto-facio-osseous-gonadal syndrome: a new form of syndromic deafness? (pages 51–55)

      Elias O. Da-Silva, Andréa R. Duarte and Thereza S. S. Lins

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02514.x

    2. A patient with Edwards syndrome caused by a rare pseudodicentric chromosome 18 of paternal origin (pages 56–60)

      Claus Højbjerg Gravholt, Merete Bugge, Helle Strømkjær, Monna Caprani, Ulrik Henriques, Michael B. Petersen and Carsten A. Brandt

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02515.x

    3. Interstitial deletion 2(p11.2p13): a rare chromosomal abnormality (pages 61–62)

      Sharon L Wenger and Elizabeth W. McPherson

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02516.x

  3. Short Communication

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short Communication
    5. Short Report on DNA Marker at Candidate Locus
    6. Announcement
    1. Essential hyperhidrosis in Turner syndrome (pages 63–64)

      M. Noppen and W. Vincken

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02517.x

    2. A T > C transition causing a Leu > Pro substitution in a conserved region of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient (pages 65–67)

      Stefano Regis, Mirella Filocamo, Marina Stroppiano, Fabio Corsolini and Rosanna Gatti

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02518.x

  4. Short Report on DNA Marker at Candidate Locus

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short Communication
    5. Short Report on DNA Marker at Candidate Locus
    6. Announcement
    1. A polymorphism in intron 6 of the CYP17 gene (pages 68–69)

      L E. Crocitto, H. S. Feigelson, M. C. Yu, L. N. Kolonel, B. E. Henderson and G. A. Coetzee

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1997.tb02519.x

  5. Announcement

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short Communication
    5. Short Report on DNA Marker at Candidate Locus
    6. Announcement

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