Clinical Genetics

Cover image for Clinical Genetics

July 1999

Volume 56, Issue 1

Pages 1–104

  1. Original Article

    1. Top of page
    2. Original Article
    3. Short Report
    4. Letter to the Editor
    5. Original Article
    6. Letter to the Editor
    1. Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations (pages 1–9)

      Michael R Eccles and Lisa A Schimmenti

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.1999.560101.x

    2. HotSpots (pages 10–13)

      ME Suzanne Lewis

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.1999.560102.x

    3. Molecular mechanisms controlling lung morphogenesis (pages 14–27)

      Anne-Karina T Perl and Jeffrey A Whitsett

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.1999.560103.x

    4. Family physicians’ perspectives on genetics and the human genome project (pages 28–34)

      Michael D. Fetters, David J. Doukas and K. Luan Dinh Phan

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.1999.560104.x

    5. Tricho-dento-osseous syndrome and amelogenesis imperfecta with taurodontism are genetically distinct conditions (pages 35–40)

      JA Price, JT Wright, SJ Walker, PJM Crawford, MJ Aldred and TC Hart

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.1999.550105.x

    6. Cohen syndrome: evaluation of its cardiac, endocrine and radiological features (pages 41–49)

      Satu Kivitie-Kallio, Marianne Eronen, Marita Lipsanen-Nyman, Eino Marttinen and Reijo Norio

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.1999.560106.x

    7. Epidemiology of dystrophinopathies in North-West Tuscany: a molecular genetics-based revisitation (pages 51–58)

      G Siciliano, A Tessa, M Renna, ML Manca, M Mancuso and L Murri

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.1999.560107.x

    8. High frequency of tissue-specific mosaicism in Turner syndrome patients (pages 59–65)

      Sergey A Nazarenko, Vladimir A Timoshevsky and Natalia N Sukhanova

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.1999.560108.x

    9. Homozygosity for a novel DTDST mutation in a child with a ‘broad bone-platyspondylic’ variant of diastrophic dysplasia (pages 71–76)

      André Mégarbané, Fady A. Haddad, Soha Haddad-Zebouni, Mitri Achram, Georg Eich, Martine Le Merrer and Andrea Superti-Furga

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.1999.560110.x

    10. Germline mosaicism in X-linked myotubular myopathy (pages 77–81)

      Bernhard G Häne, R Curtis Rogers and Charles E Schwartz

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.1999.560111.x

  2. Short Report

    1. Top of page
    2. Original Article
    3. Short Report
    4. Letter to the Editor
    5. Original Article
    6. Letter to the Editor
    1. A locus for autosomal recessive achromatopsia on human chromosome 8q (pages 82–85)

      Aubrey Milunsky, Xin-Li Huang, Jeff Milunsky, Anita DeStefano and Clinton T Baldwin

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.1999.560112.x

    2. A de novo complex chromosomal rearrangement with nine breakpoints characterised by FISH in a boy with mild mental retardation, developmental delay, short stature and microcephaly (pages 86–92)

      Christine A Joyce, 0 José Carlos Cabral de Almeida, 1 2 Antonio Abílio Santa Rose, 1 Patricia Correia, 1 Lúcia Moraes, 1 Elenice Bastos and 2 Juan Llerena Jr 1

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.1999.560113.x

  3. Letter to the Editor

    1. Top of page
    2. Original Article
    3. Short Report
    4. Letter to the Editor
    5. Original Article
    6. Letter to the Editor
  4. Original Article

    1. Top of page
    2. Original Article
    3. Short Report
    4. Letter to the Editor
    5. Original Article
    6. Letter to the Editor
    1. Distal arthrogryposis type IIB: probable autosomal recessive inheritance (pages 95–97)

      MR Rivera, CA Avila and S Kofman-Alfaro

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.1999.560115.x

    2. Screening for FMR1 mutations among the mentally retarded: prevalence of the fragile X syndrome in Spain (pages 98–99)

      José M. Millán, Francisco Martínez, Ana Cadroy, Jesús Gandía, Mercedes Casquero, Magdalena Beneyto, Lourdes Badía and Félix Prieto

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.1999.560116.x

    3. Homozygosity for two mild glucocerebrosidase mutations of probable Iberian origin (pages 100–102)

      Olga Amaral, Lucia Lacerda, Ana Marcão, Eugénia Pinto, Gabriel Tamagnini and MC Sá Miranda

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.1999.560117.x

  5. Letter to the Editor

    1. Top of page
    2. Original Article
    3. Short Report
    4. Letter to the Editor
    5. Original Article
    6. Letter to the Editor
    1. Triple aneuploidy in spontaneous abortions (pages 103–104)

      Kavita S Reddy

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.1999.560118.x

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