Clinical Genetics

Cover image for Vol. 83 Issue 1

January 2013

Volume 83, Issue 1

Pages 1–98

  1. EDITORIAL

    1. Top of page
    2. EDITORIAL
    3. PERSPECTIVES
    4. REVIEW
    5. DEVELOPMENTAL BIOLOGY: FRONTIERS FOR CLINICAL GENETICS
    6. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    7. HOTSPOTS
    8. ORIGINAL ARTICLES
    9. SHORT REPORTS
    10. LETTERS TO THE EDITOR
    1. You have free access to this content
      Special new feature in Clinical Genetics (page 1)

      Michael R. Hayden

      Article first published online: 17 DEC 2012 | DOI: 10.1111/cge.12067

  2. PERSPECTIVES

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

    1. Top of page
    2. EDITORIAL
    3. PERSPECTIVES
    4. REVIEW
    5. DEVELOPMENTAL BIOLOGY: FRONTIERS FOR CLINICAL GENETICS
    6. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    7. HOTSPOTS
    8. ORIGINAL ARTICLES
    9. SHORT REPORTS
    10. LETTERS TO THE EDITOR
    1. Genetic and cellular basis of cerebral cavernous malformations: implications for clinical management (pages 7–14)

      S Bacigaluppi, SF Retta, S Pileggi, M Fontanella, L Goitre, L Tassi, A La Camera, A Citterio, MC Patrosso, G Tredici and S Penco

      Article first published online: 8 MAY 2012 | DOI: 10.1111/j.1399-0004.2012.01892.x

  4. DEVELOPMENTAL BIOLOGY: FRONTIERS FOR CLINICAL GENETICS

    1. Top of page
    2. EDITORIAL
    3. PERSPECTIVES
    4. REVIEW
    5. DEVELOPMENTAL BIOLOGY: FRONTIERS FOR CLINICAL GENETICS
    6. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    7. HOTSPOTS
    8. ORIGINAL ARTICLES
    9. SHORT REPORTS
    10. LETTERS TO THE EDITOR
    1. The developmental genetics of Hirschsprung's disease (pages 15–22)

      K-F Bergeron, DW Silversides and N Pilon

      Article first published online: 7 NOV 2012 | DOI: 10.1111/cge.12032

  5. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS

    1. Top of page
    2. EDITORIAL
    3. PERSPECTIVES
    4. REVIEW
    5. DEVELOPMENTAL BIOLOGY: FRONTIERS FOR CLINICAL GENETICS
    6. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    7. HOTSPOTS
    8. ORIGINAL ARTICLES
    9. SHORT REPORTS
    10. LETTERS TO THE EDITOR
    1. Physicians' perspectives on the uncertainties and implications of chromosomal microarray testing of children and families (pages 23–30)

      M Reiff, K Ross, S Mulchandani, KJ Propert, RE Pyeritz, NB Spinner and BA Bernhardt

      Article first published online: 18 SEP 2012 | DOI: 10.1111/cge.12004

  6. HOTSPOTS

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

    1. Top of page
    2. EDITORIAL
    3. PERSPECTIVES
    4. REVIEW
    5. DEVELOPMENTAL BIOLOGY: FRONTIERS FOR CLINICAL GENETICS
    6. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    7. HOTSPOTS
    8. ORIGINAL ARTICLES
    9. SHORT REPORTS
    10. LETTERS TO THE EDITOR
    1. Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development (pages 35–43)

      VA Arboleda, H Lee, FJ Sánchez, EC Délot, DE Sandberg, WW Grody, SF Nelson and E Vilain

      Article first published online: 1 MAY 2012 | DOI: 10.1111/j.1399-0004.2012.01879.x

    2. A novel deletion partly removing the AVP gene causes autosomal recessive inheritance of early-onset neurohypophyseal diabetes insipidus (pages 44–52)

      JH Christensen, H Kvistgaard, J Knudsen, G Shaikh, J Tolmie, S Cooke, S Pedersen, TJ Corydon, N Gregersen and S Rittig

      Article first published online: 17 JAN 2012 | DOI: 10.1111/j.1399-0004.2011.01833.x

  8. SHORT REPORTS

    1. Top of page
    2. EDITORIAL
    3. PERSPECTIVES
    4. REVIEW
    5. DEVELOPMENTAL BIOLOGY: FRONTIERS FOR CLINICAL GENETICS
    6. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    7. HOTSPOTS
    8. ORIGINAL ARTICLES
    9. SHORT REPORTS
    10. LETTERS TO THE EDITOR
    1. Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants? (pages 53–65)

      M Shoukier, N Klein, B Auber, J Wickert, J Schröder, B Zoll, P Burfeind, I Bartels, EA Alsat, M Lingen, P Grzmil, S Schulze, J Keyser, D Weise, M Borchers, E Hobbiebrunken, M Röbl, J Gärtner, K Brockmann and B Zirn

      Article first published online: 21 FEB 2012 | DOI: 10.1111/j.1399-0004.2012.01850.x

    2. High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus–Merzbacher disease (pages 66–72)

      B Bilir, Z Yapici, C Yalcinkaya, I Baris, CMB Carvalho, M Bartnik, B Ozes, M Eraksoy, JR Lupski and E Battaloglu

      Article first published online: 20 FEB 2012 | DOI: 10.1111/j.1399-0004.2012.01846.x

    3. Somatic mosaicism in a mother of two children with Pitt–Hopkins syndrome (pages 73–77)

      CVM Steinbusch, KEP van Roozendaal, D Tserpelis, EEJ Smeets, TJ Kranenburg-de Koning, KH de Waal, C Zweier, A Rauch, RCM Hennekam, MJ Blok and CTRM Schrander-Stumpel

      Article first published online: 15 MAR 2012 | DOI: 10.1111/j.1399-0004.2012.01857.x

    4. Double heterozygous mutations of MITF and PAX3 result in Waardenburg syndrome with increased penetrance in pigmentary defects (pages 78–82)

      T Yang, X Li, Q Huang, L Li, Y Chai, L Sun, X Wang, Y Zhu, Z Wang, Z Huang, Y Li and H Wu

      Article first published online: 5 MAR 2012 | DOI: 10.1111/j.1399-0004.2012.01853.x

    5. MODY type 2 P59S GCK mutant: founder effect in South of Italy (pages 83–87)

      M Delvecchio, O Ludovico, E Bellacchio, R Stallone, T Palladino, S Mastroianno, L Zelante, M Sacco, V Trischitta and M Carella

      Article first published online: 26 MAR 2012 | DOI: 10.1111/j.1399-0004.2012.01856.x

    6. Age-specific incidence rates for breast cancer in carriers of BRCA1 mutations from Norway (pages 88–91)

      P Møller, L Mæhle, A Vabø, N Clark, P Sun and SA Narod

      Article first published online: 1 MAR 2012 | DOI: 10.1111/j.1399-0004.2012.01855.x

  9. LETTERS TO THE EDITOR

    1. Top of page
    2. EDITORIAL
    3. PERSPECTIVES
    4. REVIEW
    5. DEVELOPMENTAL BIOLOGY: FRONTIERS FOR CLINICAL GENETICS
    6. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    7. HOTSPOTS
    8. ORIGINAL ARTICLES
    9. SHORT REPORTS
    10. LETTERS TO THE EDITOR
    1. Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome) (pages 92–95)

      JL Hoffer, H Fryssira, AE Konstantinidou, H−H Ropers and A Tzschach

      Article first published online: 9 APR 2012 | DOI: 10.1111/j.1399-0004.2012.01880.x

    2. Atypical presentation and a novel mutation in ALMS1: implications for clinical and molecular diagnostic strategies for Alström syndrome (pages 96–98)

      S Taşdemir, A Güzel-Ozantürk, JD Marshall, GB Collin, RK Özgül, N Narin, M Dündar and JK Naggert

      Article first published online: 25 APR 2012 | DOI: 10.1111/j.1399-0004.2012.01883.x

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