Clinical Genetics

Cover image for Clinical Genetics

June 1995

Volume 47, Issue 6

Pages 281–336

  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. Letter to the Editor
    1. Screening of neurofibromatosis type 1 gene: identification of a large deletion and of an intronic variant (pages 281–284)

      Anna Grifa, Maria Rosaria Piemontese, Salvatore Melchionda, Paola Origone, Leopoldo Zelante, Domenico Coviello, Giovanni Fratta, Bruno Dallapiccola, Paolo Balestrazzi, Franco Ajmar and Paolo Gasparini

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1995.tb03965.x

    2. A recombination event in the closely linked plasminogen and apolipoprotein(a) gene loci (pages 285–289)

      Paola Magnaghi, Alberto Agazzi, Ornella Semino, Maurizio Ferrari, Tiziano Barbui, Armando D'Angelo and Roberto Taramelli

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1995.tb03966.x

    3. Genetic analysis of 20 families with autosomal dominant adult polycystic kidney disease from South West Thames Region (pages 290–294)

      S. Jeffery, A. K. Saggar-Malik, S. Morgan, J. B. Eastwood and M. Patton

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1995.tb03967.x

    4. Aplasia cutis congenita and associated disorders: an update (pages 295–301)

      Mirjam E. J. W. Evers, Peter M. Steijlen and Ben C. J. Hamel

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1995.tb03968.x

    5. Problems arising in correlating clinical and molecular data in myotonic dystrophy (pages 302–304)

      M. Giordano, M. S. De Angelis, R. Cantello, N. A. Abdirisak, R. Mutani and P. Momigliano Richiardi

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1995.tb03969.x

    6. Identification of a breast tumor with microsatellite instability in a potential carrier of the hereditary non-polyposis colon cancer trait (pages 305–310)

      Jon Thor Bergthorsson, Valgardur Egilsson, Julius Gudmundsson, Adalgeir Arason and Sigurdur Ingvarsson

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1995.tb03970.x

    7. Retinoblastoma in association with the chromosome breakage syndromes Fanconi's anaemia and Bloom's syndrome: clinical and cytogenetic findings (pages 311–317)

      Barbara Gibbons, David Scott, John L. Hungerford, Kan Luk Cheung, Christine Harrison, Simon Attard-Montalto, Miles Evans, Jillian M. Birch and Judith E. Kingston

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1995.tb03971.x

    8. Detection of α-thalassemia-1 (Southeast Asian type) and its application for prenatal diagnosis (pages 318–320)

      Pranee Winichagoon, Suthat Fucharoen, Sujin Kanokpongsakdi and Yazuyuki Fukumaki

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1995.tb03972.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. Letter to the Editor
    1. Constitutional heteromorphism of 9q13[RIGHTWARDS ARROW]q21 in a patient with chronic myelogenous leukemia (pages 321–323)

      Rawatmal B. Surana, Syed K. Rafi, Kevi L. Christopher, Thomas J. Reid and Raymond B. Weiss

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1995.tb03973.x

    2. A further report of Brachmann-de Lange syndrome in two sibs with normal parents (pages 324–327)

      Matgorzata Krajewska-Walasek, Krystyna Chrzanowska, Anna Tylki-Szymańska and Magdalena Bialecka

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1995.tb03974.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. Letter to the Editor
    1. Cystic fibrosis mutations and immotile cilia syndrome (pages 328–329)

      Sabina Liechti-Gallati and Richard Kraemer

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1995.tb03975.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. Letter to the Editor
  5. Letter to the Editor

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short Communication
    5. Short Report on DNA Marker at Candidate Locus
    6. Letter to the Editor
    1. Normal testicular histology in a mid-trimester 49,XXXXY fetus (page 331)

      J. P. F. Fryns, Ph. Moerman and A. Kleczkowska

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1995.tb03977.x

    2. Clinical follow up of a girl with “mental retardation with pterygia, shortness and distinct facial appearance” (Haspeslagh syndrome) (pages 332–334)

      C. T. R. M. Schrander-Stumpel, C. F. M. Pulles-Heintzberger and J. P. Fryns

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1995.tb03978.x

    3. Video display terminals: risk of trisomy 18? (pages 335–336)

      Elvira Rodríguez-Pinilla and M. Luísa Martínez-Frías

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1995.tb03979.x

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