Clinical Genetics

Cover image for Clinical Genetics

June 1992

Volume 41, Issue 6

Pages 281–336

  1. Original Article

    1. Top of page
    2. Original Article
    3. Case Report
    4. Letter to the Editor
    5. Announcements
    1. Familial spastic paraplegia with neuropathy and poikiloderma. A new syndrome? (pages 281–284)

      G. Antiñolo, M. Nieto, S. Borrego, J. Sierra, M. Rufo and M. L. Siljeström

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1992.tb03397.x

    2. 20 p duplication as a result of parental translocation: familial case report and a contribution to the clinical delineation of the syndrome (pages 285–289)

      P. Grammatico, F. Cupilari, C. Di Rosa, M. Falcolini and G. Del Porto

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1992.tb03398.x

    3. Identical twins with an autosomal recessive form of spondylocostal dysostosis (pages 290–292)

      M. Satar, M. N. Kozanoḡlu and L. Atilla

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1992.tb03399.x

    4. A syndrome of progressive sensorineural deafness and cataract inherited as an autosomal dominant trait (pages 293–295)

      A. Guala, V. Germinetti, F. Sebastiani and M. C. Silengo

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1992.tb03400.x

    5. Hair-nail dysplasia - a new pure autosomal dominant ectodermal dysplasia (pages 296–298)

      Marta Pinhairo and Newton Freire-Maia

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1992.tb03401.x

    6. Intrachromosomal insertion of chromosome 7 (pages 299–302)

      Sandra A. Farrell and Grace Chow

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1992.tb03402.x

    7. Differentiated recurrence risk estimations in the Prader-Willi syndrome (pages 303–308)

      Ingo Kennerknecht

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1992.tb03403.x

    8. Cytogenetic and dermatoglyphic findings in a familial case of hypomelanosis of Ito (incontinentia pigmenti achromians) (pages 309–314)

      Walter Vormittag, Christian Ensinger and Manfred Raff

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1992.tb03404.x

    9. Population variation and genetics of plasma homocyst(e)ine level (pages 315–321)

      Káro Berg, M. Rans Malinow, Pater Kiarulf and Barbara Upson

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1992.tb03405.x

    10. Retinitis pigmentosa, AD type I: exclusion of linkage to D3S47 (C17) in a large South African family of British origin (pages 322–325)

      Jacquie Gresnbarg, Michelle Babaya, Raj Ramasar and Pater Beighton

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1992.tb03406.x

    11. One hundred requests for predictive testing for Huntington's disease (pages 326–330)

      Sheila A. Simpson, Jahn Basson, David Alexander, Kathryn Allan and Alan W. Johnston

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1992.tb03407.x

  2. Case Report

    1. Top of page
    2. Original Article
    3. Case Report
    4. Letter to the Editor
    5. Announcements
    1. Human β-mannosidosis: a 3-year-old boy with speech impairment and emotional instability (pages 331–334)

      Livia Poenaru, Saïd Akli, Francis Rocchiccioli, Fatrica Eydoux and Pierre Zamet

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1992.tb03408.x

  3. Letter to the Editor

    1. Top of page
    2. Original Article
    3. Case Report
    4. Letter to the Editor
    5. Announcements
    1. Chromosomal aberrations in Sotos syndrome (page 335)

      Masato Tsukahara and Tadashi Kajii

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1992.tb03409.x

  4. Announcements

    1. Top of page
    2. Original Article
    3. Case Report
    4. Letter to the Editor
    5. Announcements
    1. Announcements (page 336)

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1992.tb03410.x

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