Clinical Genetics

Cover image for Clinical Genetics

July 2004

Volume 66, Issue 1

Pages 1–81

  1. Mini Review

    1. Top of page
    2. Mini Review
    3. HotSpots
    4. Original Articles
    5. Short Reports
    6. Letter to the Editor
    7. Errata
  2. HotSpots

    1. Top of page
    2. Mini Review
    3. HotSpots
    4. Original Articles
    5. Short Reports
    6. Letter to the Editor
    7. Errata
  3. Original Articles

    1. Top of page
    2. Mini Review
    3. HotSpots
    4. Original Articles
    5. Short Reports
    6. Letter to the Editor
    7. Errata
    1. Familial iridogoniodysgenesis and skeletal anomalies: a probable new autosomal recessive disorder (pages 23–29)

      LX Rodríguez-Rojas, D García-Cruz, R Mendoza-Topete, LB Barba, MT Barrios, B Patiño-García, MG López-Cardona, I Nuño-Arana, JE García-Ortiz and JM Cantú

      Article first published online: 5 MAY 2004 | DOI: 10.1111/j.0009-9163.2004.00271.x

    2. High frequency of subtelomeric rearrangements in a cohort of 92 patients with severe mental retardation and dysmorphism (pages 30–38)

      A Novelli, C Ceccarini, L Bernardini, D Zuccarello, V Caputo, MC Digilio, R Mingarelli and B Dallapiccola

      Article first published online: 5 MAY 2004 | DOI: 10.1111/j.0009-9163.2004.00270.x

  4. Short Reports

    1. Top of page
    2. Mini Review
    3. HotSpots
    4. Original Articles
    5. Short Reports
    6. Letter to the Editor
    7. Errata
    1. New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene (pages 53–57)

      K Zerres, J Senderek, S Rudnik-Schöneborn, T Eggermann, J Kunze, T Mononen, H Kääriäinen, J Kirfel, M Moser, R Buettner and C Bergmann

      Article first published online: 16 JUN 2004 | DOI: 10.1111/j.0009-9163.2004.00259.x

    2. De novo germline mutation in the serine–threonine kinase STK11/LKB1 gene associated with Peutz–Jeghers syndrome (pages 58–62)

      I Hernan, I Roig, B Martin, M J Gamundi, M Martinez-Gimeno and M Carballo

      Article first published online: 16 JUN 2004 | DOI: 10.1111/j.0009-9163.2004.00266.x

    3. Association of parental consanguinity with congenital malformations among Arab newborns in Jerusalem (pages 63–66)

      R Bromiker, M Glam-Baruch, R Gofin, C Hammerman and Y Amitai

      Article first published online: 16 JUN 2004 | DOI: 10.1111/j.0009-9163.2004.00264.x

    4. Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations (pages 67–72)

      NV Whittock, S Ellard, J Duncan, CEM De Die-Smulders, JSH Vles and PD Turnpenny

      Article first published online: 5 MAY 2004 | DOI: 10.1111/j.0009-9163.2004.00272.x

    5. Localization of a novel locus for hereditary nail dysplasia to chromosome 17q25.1-17q25.3 (pages 73–78)

      MA Rafiq, M Ansar, T Pham, M Amin-ud-din, M Anwar, S Haque, MH Chahrour, K Yan, SM Leal and W Ahmad

      Article first published online: 5 MAY 2004 | DOI: 10.1111/j.0009-9163.2004.00273.x

  5. Letter to the Editor

    1. Top of page
    2. Mini Review
    3. HotSpots
    4. Original Articles
    5. Short Reports
    6. Letter to the Editor
    7. Errata
    1. Molecular evidence that AEC syndrome and Rapp–Hodgkin syndrome are variable expression of a single genetic disorder (pages 79–80)

      DR Bertola, CA Kim, LMJ Albano, H Scheffer, R Meijer and H Van Bokhoven

      Article first published online: 16 JUN 2004 | DOI: 10.1111/j.0009-9163.2004.00278.x

  6. Errata

    1. Top of page
    2. Mini Review
    3. HotSpots
    4. Original Articles
    5. Short Reports
    6. Letter to the Editor
    7. Errata
    1. You have free access to this content
      Errata (page 81)

      Article first published online: 16 JUN 2004 | DOI: 10.1111/j.0009-9163.2004.00299.x

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