Clinical Genetics

Cover image for Vol. 82 Issue 2

August 2012

Volume 82, Issue 2

Pages 103–204

  1. OBITUARY

    1. Top of page
    2. OBITUARY
    3. REVIEW
    4. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    8. RESPONSE TO THE LETTER TO THE EDITOR
    9. Corrigendum
    1. Obituary: Dr. David L. Rimoin (pages 103–104)

      Judith G. Hall

      Article first published online: 10 JUL 2012 | DOI: 10.1111/j.1399-0004.2012.01920.x

  2. REVIEW

    1. Top of page
    2. OBITUARY
    3. REVIEW
    4. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    8. RESPONSE TO THE LETTER TO THE EDITOR
    9. Corrigendum
    1. You have free access to this content
  3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS

    1. Top of page
    2. OBITUARY
    3. REVIEW
    4. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    8. RESPONSE TO THE LETTER TO THE EDITOR
    9. Corrigendum
    1. Survey of genetic counselors and clinical geneticists' use and attitudes toward pharmacogenetic testing (pages 115–120)

      SB Haga, JM O'Daniel, GM Tindall, R Mills, IM Lipkus and R Agans

      Article first published online: 19 FEB 2012 | DOI: 10.1111/j.1399-0004.2012.01848.x

      Section Editor: Aad Tibben, A., email: a.tibben@lumc.nl

  4. ORIGINAL ARTICLES

    1. Top of page
    2. OBITUARY
    3. REVIEW
    4. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    8. RESPONSE TO THE LETTER TO THE EDITOR
    9. Corrigendum
    1. Ehlers–Danlos arthrochalasia type (VIIA–B) – expanding the phenotype: from prenatal life through adulthood (pages 121–130)

      M Klaassens, E Reinstein, Y Hilhorst-Hofstee, JJP Schrander, F Malfait, H Staal, LC ten Have, J Blaauw, HCJ Roggeveen, D Krakow, A De Paepe, MAM van Steensel, G Pals, JM Graham and CTRM Schrander-Stumpel

      Article first published online: 24 AUG 2011 | DOI: 10.1111/j.1399-0004.2011.01758.x

    2. Detection of chromosomal aneuploidies in fetal cells isolated from maternal blood using single-chromosome dual-probe FISH analysis (pages 131–139)

      G Calabrese, M Baldi, D Fantasia, M Teresa Sessa, M Kalantar, C Holzhauer, M Alunni-Fabbroni, G Palka and G Sitar

      Article first published online: 14 OCT 2011 | DOI: 10.1111/j.1399-0004.2011.01775.x

  5. SHORT REPORTS

    1. Top of page
    2. OBITUARY
    3. REVIEW
    4. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    8. RESPONSE TO THE LETTER TO THE EDITOR
    9. Corrigendum
    1. Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene (pages 140–146)

      R Nagy, H Wang, B Albrecht, D Wieczorek, G Gillessen- Kaesbach, E Haan, P Meinecke, A de la Chapelle and JA Westman

      Article first published online: 28 AUG 2011 | DOI: 10.1111/j.1399-0004.2011.01756.x

    2. Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot–Marie–Tooth type 2 (pages 157–164)

      C Crimella, C Baschirotto, A Arnoldi, A Tonelli, E Tenderini, G Airoldi, A Martinuzzi, A Trabacca, L Losito, M Scarlato, S Benedetti, E Scarpini, G Spinicci, N Bresolin and MT Bassi

      Article first published online: 21 JUN 2011 | DOI: 10.1111/j.1399-0004.2011.01717.x

    3. Smith–Lemli–Opitz syndrome among Arabs (pages 165–172)

      M Al-Owain, F Imtiaz, T Shuaib, A Edrees, M Al-Amoudi, N Sakati, Z Al-Hassnan, H Bamashmous, Z Rahbeeni, S Al-Ameer, E Faqeih, B Meyer, A Al-Hashem, W Garout, A Al-Odaib, M Rashed and JY Al-Aama

      Article first published online: 18 JUL 2011 | DOI: 10.1111/j.1399-0004.2011.01742.x

    4. ACVRL1 germinal mosaic with two mutant alleles in hereditary hemorrhagic telangiectasia associated with pulmonary arterial hypertension (pages 173–179)

      M Eyries, F Coulet, B Girerd, D Montani, M Humbert, P Lacombe, T Chinet, L Gouya, J Roume, MM Axford, CE Pearson and F Soubrier

      Article first published online: 13 JUL 2011 | DOI: 10.1111/j.1399-0004.2011.01727.x

    5. Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect (pages 180–186)

      J Kim, J Song, CJ Lyu, YR Kim, SH Oh, YC Choi, JH Yoo, JR Choi, H Kim and K-A Lee

      Article first published online: 30 JUN 2011 | DOI: 10.1111/j.1399-0004.2011.01732.x

    6. 3D position of pericentromeric heterochromatin within the nucleus of a patient with ICF syndrome (pages 187–192)

      C Dupont, F Guimiot, L Perrin, I Marey, D Smiljkovski, D Le Tessier, C Lebugle, C Baumann, P Bourdoncle, A-C Tabet, A Aboura, B Benzacken and J-M Dupont

      Article first published online: 3 JUN 2011 | DOI: 10.1111/j.1399-0004.2011.01697.x

    7. 5-Oxoprolinase deficiency: report of the first human OPLAH mutation (pages 193–196)

      IA Almaghlouth, JY Mohamed, M Al-Amoudi, L Al-Ahaidib, A Al-Odaib and FS Alkuraya

      Article first published online: 30 JUN 2011 | DOI: 10.1111/j.1399-0004.2011.01728.x

  6. LETTERS TO THE EDITOR

    1. Top of page
    2. OBITUARY
    3. REVIEW
    4. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    8. RESPONSE TO THE LETTER TO THE EDITOR
    9. Corrigendum
    1. Novel mutations in microsomal triglyceride transfer protein including maternal uniparental disomy in two patients with abetalipoproteinemia (pages 197–200)

      A Aminoff, E Gunnar, M Barbaro, MN Mannila, C Duponchel, M Tosi, KL Robinson, O Hernell and E Ehrenborg

      Article first published online: 29 DEC 2011 | DOI: 10.1111/j.1399-0004.2011.01828.x

  7. RESPONSE TO THE LETTER TO THE EDITOR

    1. Top of page
    2. OBITUARY
    3. REVIEW
    4. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    8. RESPONSE TO THE LETTER TO THE EDITOR
    9. Corrigendum
    1. Response to Newman et al. (page 203)

      SB Haga, JM O’Daniel, GM Tindall, R Mills, I Lipkus and R Agans

      Article first published online: 8 APR 2012 | DOI: 10.1111/j.1399-0004.2012.01874.x

  8. Corrigendum

    1. Top of page
    2. OBITUARY
    3. REVIEW
    4. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    8. RESPONSE TO THE LETTER TO THE EDITOR
    9. Corrigendum
    1. You have free access to this content
      Corrigendum (page 204)

      Article first published online: 10 JUL 2012 | DOI: 10.1111/j.1399-0004.2012.01918.x

      This article corrects:

SEARCH

SEARCH BY CITATION