Clinical Genetics

Cover image for Vol. 77 Issue 5

May 2010

Volume 77, Issue 5

Pages 409–509

  1. Review

    1. Top of page
    2. Review
    3. Social and Behavioural Research in Clinical Genetics
    4. Images in Genetics
    5. HotSpots
    6. Original Article
    7. Short Reports
    8. Letters to the Editor
    1. Clinical and molecular aspects of aniridia (pages 409–420)

      H Kokotas and MB Petersen

      Version of Record online: 6 JAN 2010 | DOI: 10.1111/j.1399-0004.2010.01372.x

  2. Social and Behavioural Research in Clinical Genetics

    1. Top of page
    2. Review
    3. Social and Behavioural Research in Clinical Genetics
    4. Images in Genetics
    5. HotSpots
    6. Original Article
    7. Short Reports
    8. Letters to the Editor
    1. Genetics professionals' experiences with grief and loss: implications for support and training (pages 421–429)

      G Geller, CH Rushton, C Francomano, K Kolodner and BA Bernhardt

      Version of Record online: 27 FEB 2010 | DOI: 10.1111/j.1399-0004.2010.01409.x

  3. Images in Genetics

    1. Top of page
    2. Review
    3. Social and Behavioural Research in Clinical Genetics
    4. Images in Genetics
    5. HotSpots
    6. Original Article
    7. Short Reports
    8. Letters to the Editor
    1. Pink-creamy whole blood in a 3-month-old infant with a homozygous deletion in the lipoprotein lipase gene (pages 430–433)

      HJ Avis, HJ Scheffer, JJP Kastelein, GM Dallinga-Thie and FA Wijburg

      Version of Record online: 4 JAN 2010 | DOI: 10.1111/j.1399-0004.2009.01369.x

  4. HotSpots

    1. Top of page
    2. Review
    3. Social and Behavioural Research in Clinical Genetics
    4. Images in Genetics
    5. HotSpots
    6. Original Article
    7. Short Reports
    8. Letters to the Editor
  5. Original Article

    1. Top of page
    2. Review
    3. Social and Behavioural Research in Clinical Genetics
    4. Images in Genetics
    5. HotSpots
    6. Original Article
    7. Short Reports
    8. Letters to the Editor
    1. A new classification system for primary lymphatic dysplasias based on phenotype (pages 438–452)

      F Connell, G Brice, S Jeffery, V Keeley, P Mortimer and S Mansour

      Version of Record online: 11 FEB 2010 | DOI: 10.1111/j.1399-0004.2010.01394.x

  6. Short Reports

    1. Top of page
    2. Review
    3. Social and Behavioural Research in Clinical Genetics
    4. Images in Genetics
    5. HotSpots
    6. Original Article
    7. Short Reports
    8. Letters to the Editor
    1. Novel exon nucleotide substitution at the splice junction causes a neonatal Marfan syndrome (pages 453–463)

      S-C Chao, J-S Chen, C-H Tsai, JY-M Lin, Y-J Lin and HS Sun

      Version of Record online: 4 FEB 2010 | DOI: 10.1111/j.1399-0004.2009.01337.x

    2. Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene? (pages 464–473)

      R Dorfman, T Nalpathamkalam, C Taylor, T Gonska, K Keenan, XW Yuan, M Corey, L-C Tsui, J Zielenski and P Durie

      Version of Record online: 6 JAN 2010 | DOI: 10.1111/j.1399-0004.2009.01351.x

    3. Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency (pages 474–482)

      E Quintana, L Gort, C Busquets, A Navarro-Sastre, W Lissens, S Moliner, M Lluch, MA Vilaseca, L De Meirleir, A Ribes, P Briones and PDH Working Group

      Version of Record online: 10 DEC 2009 | DOI: 10.1111/j.1399-0004.2009.01313.x

      Corrected by:

      Erratum

      Vol. 78, Issue 1, 101, Version of Record online: 7 JUN 2010

    4. Psychosocial impact of Von Hippel–Lindau disease: levels and sources of distress (pages 483–491)

      CRM Lammens, EMA Bleiker, S Verhoef, FJ Hes, MGEM Ausems, D Majoor-Krakauer, RH Sijmons, RB Van Der Luijt, AMW Van Den Ouweland, Tam Van Os, N Hoogerbrugge, EB Gómez García, CJ Dommering, CM Gundy and NK Aaronson

      Version of Record online: 21 FEB 2010 | DOI: 10.1111/j.1399-0004.2010.01333.x

    5. Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age–a sibling control study (pages 492–498)

      JJ McGill, AC Inwood, DJ Coman, ML Lipke, D De Lore, SJ Swiedler and JJ Hopwood

      Version of Record online: 23 NOV 2009 | DOI: 10.1111/j.1399-0004.2009.01324.x

  7. Letters to the Editor

    1. Top of page
    2. Review
    3. Social and Behavioural Research in Clinical Genetics
    4. Images in Genetics
    5. HotSpots
    6. Original Article
    7. Short Reports
    8. Letters to the Editor
    1. Heterozygous 5p13.3-13.2 deletion in a patient with type I Chiari malformation and bilateral Duane retraction syndrome (pages 499–502)

      F Bayrakli, K Bilguvar, D Ceyhan, AG Ercan-Sencicek, T Cankaya, S Bayrakli, I Guney, SM Mane, MW State and M Gunel

      Version of Record online: 9 APR 2010 | DOI: 10.1111/j.1399-0004.2010.01411.x

    2. Prenatal diagnosis of Duchenne muscular dystrophy by comparative genomic hybridization (pages 503–506)

      M Bovolenta, P Rimessi, B Dolcini, A Ravani, A Ferlini and F Gualandi

      Version of Record online: 10 DEC 2009 | DOI: 10.1111/j.1399-0004.2009.01340.x

    3. Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations (pages 507–509)

      JM Drijvers, DJ Lefeber, SA De Munnik, R Pfundt, N Van De Leeuw, C Marcelis, C Thiel, C Koerner, RA Wevers and E Morava

      Version of Record online: 9 APR 2010 | DOI: 10.1111/j.1399-0004.2009.01349.x

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