Clinical Genetics

Cover image for Vol. 77 Issue 3

March 2010

Volume 77, Issue 3

Pages 201–304

  1. Review

    1. Top of page
    2. Review
    3. Perspectives
    4. Images in Genetics
    5. HotSpots
    6. Original Articles
    7. Short Reports
    8. Letters to the Editor
    9. Erratum
    1. Gene copy number variation and common human disease (pages 201–213)

      M Fanciulli, E Petretto and TJ Aitman

      Article first published online: 10 DEC 2009 | DOI: 10.1111/j.1399-0004.2009.01342.x

  2. Perspectives

    1. Top of page
    2. Review
    3. Perspectives
    4. Images in Genetics
    5. HotSpots
    6. Original Articles
    7. Short Reports
    8. Letters to the Editor
    9. Erratum
  3. Images in Genetics

    1. Top of page
    2. Review
    3. Perspectives
    4. Images in Genetics
    5. HotSpots
    6. Original Articles
    7. Short Reports
    8. Letters to the Editor
    9. Erratum
  4. HotSpots

    1. Top of page
    2. Review
    3. Perspectives
    4. Images in Genetics
    5. HotSpots
    6. Original Articles
    7. Short Reports
    8. Letters to the Editor
    9. Erratum
  5. Original Articles

    1. Top of page
    2. Review
    3. Perspectives
    4. Images in Genetics
    5. HotSpots
    6. Original Articles
    7. Short Reports
    8. Letters to the Editor
    9. Erratum
    1. Death in CHARGE syndrome after the neonatal period (pages 232–240)

      JEH Bergman, KD Blake, MK Bakker, GJ Du Marchie Sarvaas, RH Free and CMA Van Ravenswaaij-Arts

      Article first published online: 23 FEB 2010 | DOI: 10.1111/j.1399-0004.2009.01334.x

    2. Implementation of ironXS: a study of the acceptability and feasibility of genetic screening for hereditary hemochromatosis in high schools (pages 241–248)

      MB Delatycki, M Wolthuizen, V Collins, E Varley, J Craven, KJ Allen, MA Aitken, L Bond, PJ Lockhart, GR Wilson, I Macciocca and SA Metcalfe

      Article first published online: 23 NOV 2009 | DOI: 10.1111/j.1399-0004.2009.01308.x

  6. Short Reports

    1. Top of page
    2. Review
    3. Perspectives
    4. Images in Genetics
    5. HotSpots
    6. Original Articles
    7. Short Reports
    8. Letters to the Editor
    9. Erratum
    1. Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency (pages 249–257)

      V Leuzzi, Ca Carducci, Cl Carducci, S Pozzessere, A Burlina, R Cerone, D Concolino, MA Donati, L Fiori, C Meli, A Ponzone, F Porta, P Strisciuglio, I Antonozzi and N Blau

      Article first published online: 3 JAN 2010 | DOI: 10.1111/j.1399-0004.2009.01306.x

    2. Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I (pages 258–265)

      S Saal, L Faivre, Bernard Aral, N Gigot, A Toutain, L Van Maldergem, A Destree, I Maystadt, J-P Cosyns, P-S Jouk, B Loeys, D Chauveau, E Bieth, V Layet, M Mathieu, J Lespinasse, A Teebi, B Franco, E Gautier, C Binquet, A Masurel-Paulet, C Mousson, J-B Gouyon, F Huet and C Thauvin-Robinet

      Article first published online: 8 OCT 2009 | DOI: 10.1111/j.1399-0004.2009.01290.x

    3. Stüve–Wiedemann syndrome: long-term follow-up and genetic heterogeneity (pages 266–272)

      C Jung, N Dagoneau, G Baujat, M Le Merrer, A David, M Di Rocco, B Hamel, A Mégarbané, A Superti-Furga, S Unger, A Munnich and V Cormier-Daire

      Article first published online: 23 FEB 2010 | DOI: 10.1111/j.1399-0004.2009.01314.x

    4. Does family history predict the age at onset of new breast cancers in BRCA1 and BRCA2 mutation-positive families? (pages 273–279)

      S Panchal, L Bordeleau, A Poll, M Llacuachaqui, O Shachar, P Ainsworth, S Armel, A Eisen, P Sun and SA Narod

      Article first published online: 10 DEC 2009 | DOI: 10.1111/j.1399-0004.2009.01328.x

    5. Multiple spinal ganglioneuromas in a patient harboring a pathogenic NF1 mutation (pages 293–297)

      C Bacci, R Sestini, F Ammannati, E Bianchini, T Palladino, M Carella, S Melchionda, L Zelante and L Papi

      Article first published online: 23 OCT 2009 | DOI: 10.1111/j.1399-0004.2009.01292.x

  7. Letters to the Editor

    1. Top of page
    2. Review
    3. Perspectives
    4. Images in Genetics
    5. HotSpots
    6. Original Articles
    7. Short Reports
    8. Letters to the Editor
    9. Erratum
    1. Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome (pages 298–301)

      C Palka, R Giuliani, F Brancati, A Mohn, A Di Muzio, O Calabrese, A Huebner, D De Grandis, F Chiarelli, A Ferlini and L Stuppia

      Article first published online: 23 FEB 2010 | DOI: 10.1111/j.1399-0004.2009.01348.x

    2. You have full text access to this OnlineOpen article
      The p.P56S mutation in the VAPB gene is not due to a single founder: the first European case (pages 302–303)

      AD Funke, M Esser, A Krüttgen, J Weis, M Mitne-Neto, M Lazar, AL Nishimura, AD Sperfeld, P Trillenberg, J Senderek, M Krasnianski, M Zatz, S Zierz and M Deschauer

      Article first published online: 23 FEB 2010 | DOI: 10.1111/j.1399-0004.2009.01319.x

  8. Erratum

    1. Top of page
    2. Review
    3. Perspectives
    4. Images in Genetics
    5. HotSpots
    6. Original Articles
    7. Short Reports
    8. Letters to the Editor
    9. Erratum
    1. You have free access to this content
      Erratum (page 304)

      Article first published online: 23 FEB 2010 | DOI: 10.1111/j.1399-0004.2009.01326.x

      This article corrects:

      Validation of MCADD newborn screening

      Vol. 76, Issue 2, 179–187, Article first published online: 24 SEP 2009

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