Clinical Genetics

Cover image for Vol. 80 Issue 3

September 2011

Volume 80, Issue 3

Pages 203–303

  1. REVIEWS

    1. Top of page
    2. REVIEWS
    3. DEVELOPMENTAL BIOLOGY: FRONTIERS FOR CLINICAL GENETICS
    4. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    5. HOTSPOTS
    6. ORIGINAL ARTICLES
    7. SHORT REPORTS
    8. LETTERS TO THE EDITOR
    1. Celiac disease: moving from genetic associations to causal variants (pages 203–313)

      B Hrdlickova, H-J Westra, L Franke and C Wijmenga

      Article first published online: 13 JUN 2011 | DOI: 10.1111/j.1399-0004.2011.01707.x

    2. CGG repeat in the FMR1 gene: size matters (pages 214–225)

      R Willemsen, J Levenga and BA Oostra

      Article first published online: 30 JUN 2011 | DOI: 10.1111/j.1399-0004.2011.01723.x

  2. DEVELOPMENTAL BIOLOGY: FRONTIERS FOR CLINICAL GENETICS

    1. Top of page
    2. REVIEWS
    3. DEVELOPMENTAL BIOLOGY: FRONTIERS FOR CLINICAL GENETICS
    4. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    5. HOTSPOTS
    6. ORIGINAL ARTICLES
    7. SHORT REPORTS
    8. LETTERS TO THE EDITOR
    1. Midline axon guidance and human genetic disorders (pages 226–234)

      L Izzi and F Charron

      Article first published online: 25 JUL 2011 | DOI: 10.1111/j.1399-0004.2011.01735.x

      Section Editors: Jacques L. Michaud, email: jacques.michaud@recherche-ste-justine.qc.ca Olivier Pourquié, email: pourquie@igbmc.fr

  3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS

    1. Top of page
    2. REVIEWS
    3. DEVELOPMENTAL BIOLOGY: FRONTIERS FOR CLINICAL GENETICS
    4. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    5. HOTSPOTS
    6. ORIGINAL ARTICLES
    7. SHORT REPORTS
    8. LETTERS TO THE EDITOR
    1. You have full text access to this OnlineOpen article
      Impact of Huntington's across the entire disease spectrum: the phases and stages of disease from the patient perspective (pages 235–239)

      AK Ho, MB Hocaoglu and for the European Huntington's Disease Network Quality of Life Working Group

      Article first published online: 4 AUG 2011 | DOI: 10.1111/j.1399-0004.2011.01748.x

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

  4. HOTSPOTS

    1. Top of page
    2. REVIEWS
    3. DEVELOPMENTAL BIOLOGY: FRONTIERS FOR CLINICAL GENETICS
    4. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    5. HOTSPOTS
    6. ORIGINAL ARTICLES
    7. SHORT REPORTS
    8. LETTERS TO THE EDITOR
  5. ORIGINAL ARTICLES

    1. Top of page
    2. REVIEWS
    3. DEVELOPMENTAL BIOLOGY: FRONTIERS FOR CLINICAL GENETICS
    4. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    5. HOTSPOTS
    6. ORIGINAL ARTICLES
    7. SHORT REPORTS
    8. LETTERS TO THE EDITOR
    1. Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations (pages 243–255)

      PC Johannesma, HM van der Klift, NCT van Grieken, D Troost, H te Riele, MAJM Jacobs, TJ Postma, DAM Heideman, CMJ Tops, JT Wijnen and FH Menko

      Article first published online: 20 FEB 2011 | DOI: 10.1111/j.1399-0004.2011.01635.x

  6. SHORT REPORTS

    1. Top of page
    2. REVIEWS
    3. DEVELOPMENTAL BIOLOGY: FRONTIERS FOR CLINICAL GENETICS
    4. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    5. HOTSPOTS
    6. ORIGINAL ARTICLES
    7. SHORT REPORTS
    8. LETTERS TO THE EDITOR
    1. A novel g.-1258G>A mutation in a conserved putative regulatory element of PAX9 is associated with autosomal dominant molar hypodontia (pages 265–272)

      GA Mendoza-Fandino, JM Gee, S Ben-Dor, C Gonzalez-Quevedo, K Lee, Y Kobayashi, J Hartiala, RM Myers, SM Leal, H Allayee and PI Patel

      Article first published online: 8 SEP 2010 | DOI: 10.1111/j.1399-0004.2010.01529.x

    2. Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity (pages 273–280)

      MF Coutinho, M Encarnação, R Gomes, L da Silva Santos, S Martins, D Sirois-Gagnon, R Bargal, M Filocamo, A Raas-Rothschild, B Tappino, C Laprise, GK Cury, IV Schwartz, O Artigalás, MJ Prata and S Alves

      Article first published online: 29 SEP 2010 | DOI: 10.1111/j.1399-0004.2010.01539.x

    3. Uptake of Huntington disease predictive testing in a complete population (pages 281–286)

      PJ Morrison, S Harding-Lester and A Bradley

      Article first published online: 29 SEP 2010 | DOI: 10.1111/j.1399-0004.2010.01538.x

    4. Aberrant PKD2 splicing due to a presumed novel missense mutation in autosomal-dominant polycystic kidney disease (pages 287–292)

      Y-C Tan, J Blumenfeld, A Michaeel, S Donahue, M Balina, T Parker, D Levine and H Rennert

      Article first published online: 18 OCT 2010 | DOI: 10.1111/j.1399-0004.2010.01555.x

  7. LETTERS TO THE EDITOR

    1. Top of page
    2. REVIEWS
    3. DEVELOPMENTAL BIOLOGY: FRONTIERS FOR CLINICAL GENETICS
    4. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    5. HOTSPOTS
    6. ORIGINAL ARTICLES
    7. SHORT REPORTS
    8. LETTERS TO THE EDITOR
    1. A novel homozygous mutation of DARS2 may cause a severe LBSL variant (pages 293–296)

      N Miyake, S Yamashita, K Kurosawa, S Miyatake, Y Tsurusaki, H Doi, H Saitsu and N Matsumoto

      Article first published online: 5 AUG 2011 | DOI: 10.1111/j.1399-0004.2011.01644.x

    2. Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria (pages 297–300)

      F Tort, M del Toro, W Lissens, J Montoya, M Fernàndez-Burriel, A Font, N Buján, A Navarro-Sastre, E López-Gallardo, JA Arranz, E Riudor, P Briones and A Ribes

      Article first published online: 5 AUG 2011 | DOI: 10.1111/j.1399-0004.2011.01650.x

    3. First large rearrangement in the MUTYH gene and attenuated familial adenomatous polyposis syndrome (pages 301–303)

      E Rouleau, H Zattara, C Lefol, T Noguchi, A Briaux, B Buecher, V Bourdon, H Sobol, R Lidereau and S Olschwang

      Article first published online: 5 AUG 2011 | DOI: 10.1111/j.1399-0004.2011.01699.x

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