Clinical Genetics

Cover image for Vol. 82 Issue 3

September 2012

Volume 82, Issue 3

Pages 205–300

  1. PERSPECTIVES

    1. Top of page
    2. PERSPECTIVES
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    8. Corrigendum
  2. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS

    1. Top of page
    2. PERSPECTIVES
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    8. Corrigendum
    1. Direct to consumer genetic testing: a systematic review of position statements, policies and recommendations (pages 210–218)

      H Skirton, L Goldsmith, L Jackson and A O'Connor

      Version of Record online: 8 APR 2012 | DOI: 10.1111/j.1399-0004.2012.01863.x

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

  3. HOTSPOTS

    1. Top of page
    2. PERSPECTIVES
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    8. Corrigendum
    1. New insights into familial diarrhea syndrome (pages 221–222)

      AK Hawkins

      Version of Record online: 10 JUL 2012 | DOI: 10.1111/j.1399-0004.2012.01911.x

  4. ORIGINAL ARTICLES

    1. Top of page
    2. PERSPECTIVES
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    8. Corrigendum
    1. Systematic screening of FBN1 gene unclassified missense variants for splice abnormalities (pages 223–231)

      DO Robinson, F Lin, M Lyon, M Raponi, E Cross, HE White, H Cox, J Clayton-Smith and D Baralle

      Version of Record online: 30 SEP 2011 | DOI: 10.1111/j.1399-0004.2011.01781.x

    2. Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency (pages 232–239)

      M Fanin, A Anichini, D Cassandrini, C Fiorillo, S Scapolan, C Minetti, M Cassanello, MA Donati, G Siciliano, A D'Amico, F Lilliu, C Bruno and C Angelini

      Version of Record online: 12 OCT 2011 | DOI: 10.1111/j.1399-0004.2011.01786.x

  5. SHORT REPORTS

    1. Top of page
    2. PERSPECTIVES
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    8. Corrigendum
    1. Analysis of phenotype and genotype information for the diagnosis of Marfan syndrome (pages 240–247)

      S Sheikhzadeh, C Kade, B Keyser, M Stuhrmann, M Arslan-Kirchner, M Rybczynski, AM Bernhardt, CR Habermann, M Hillebrand, T Mir, PN Robinson, J Berger, C Detter, S Blankenberg, J Schmidtke and Y von Kodolitsch

      Version of Record online: 5 OCT 2011 | DOI: 10.1111/j.1399-0004.2011.01771.x

    2. You have full text access to this OnlineOpen article
      Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B (pages 248–255)

      C Halgren, S Kjaergaard, M Bak, C Hansen, Z El-Schich, CM Anderson, KF Henriksen, H Hjalgrim, M Kirchhoff, EK Bijlsma, M Nielsen, NS den Hollander, CAL Ruivenkamp, B Isidor, C Le Caignec, R Zannolli, M Mucciolo, A Renieri, F Mari, B-M Anderlid, J Andrieux, A Dieux, N Tommerup and I Bache

      Version of Record online: 24 AUG 2011 | DOI: 10.1111/j.1399-0004.2011.01755.x

    3. Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9) (pages 256–263)

      H Eiberg, L Hansen, L Korbo, IM Nielsen, K Svenstrup, S Bech, LH Pinborg, L Friberg, LE Hjermind, OR Olsen and JE Nielsen

      Version of Record online: 18 JUL 2011 | DOI: 10.1111/j.1399-0004.2011.01745.x

    4. A novel NDUFV1 gene mutation in complex I deficiency in consanguineous siblings with brainstem lesions and Leigh syndrome (pages 264–270)

      C Vilain, C Rens, A Aeby, D Balériaux, P Van Bogaert, G Remiche, J Smet, R Van Coster, M Abramowicz and I Pirson

      Version of Record online: 18 JUL 2011 | DOI: 10.1111/j.1399-0004.2011.01743.x

    5. High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel (pages 271–276)

      G Borck, L Rainshtein, S Hellman-Aharony, AE Volk, K Friedrich, E Taub, N Magal, M Kanaan, C Kubisch, M Shohat and L Basel-Vanagaite

      Version of Record online: 18 JUL 2011 | DOI: 10.1111/j.1399-0004.2011.01741.x

    6. High frequency of OPA1 mutations causing high ADOA prevalence in south-eastern Sicily, Italy (pages 277–282)

      GN Gallus, E Cardaioli, A Rufa, M Collura, P Da Pozzo, E Pretegiani, M Tumino, L Pavone and A Federico

      Version of Record online: 15 AUG 2011 | DOI: 10.1111/j.1399-0004.2011.01751.x

    7. De novo CDH1 mutation in a family presenting with early-onset diffuse gastric cancer (pages 283–287)

      MA Shah, E Salo-Mullen, Z Stadler, JM Ruggeri, M Mirander, Y Pristyazhnyuk and L Zhang

      Version of Record online: 2 AUG 2011 | DOI: 10.1111/j.1399-0004.2011.01744.x

    8. ‘Silent’ carriage of two familial Mediterranean fever gene mutations in large families with only a single identified patient (pages 288–291)

      D Camus, Y Shinar, S Aamar, P Langevitz, I Ben-Zvi, A Livneh and M Lidar

      Version of Record online: 14 OCT 2011 | DOI: 10.1111/j.1399-0004.2011.01785.x

  6. LETTERS TO THE EDITOR

    1. Top of page
    2. PERSPECTIVES
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    8. Corrigendum
    1. Deletion of CUL4B leads to concordant phenotype in a monozygotic twin pair (pages 292–294)

      K Ravn, SG Lindquist, K Nielsen, TL Dahm and Z Tümer

      Version of Record online: 11 JAN 2012 | DOI: 10.1111/j.1399-0004.2011.01839.x

    2. Genotype–phenotype correlation in X-linked Alport syndrome patients carrying missense mutations in the collagenous domain of COL4A5 (pages 297–299)

      D Tsiakkis, M Pieri, P Koupepidou, P Demosthenous, K Panayidou and C Deltas

      Version of Record online: 16 FEB 2012 | DOI: 10.1111/j.1399-0004.2012.01849.x

  7. Corrigendum

    1. Top of page
    2. PERSPECTIVES
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    8. Corrigendum
    1. You have free access to this content
      Corrigendum (page 300)

      Version of Record online: 12 AUG 2012 | DOI: 10.1111/j.1399-0004.2012.01889.x

      This article corrects:

      Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II

      Vol. 81, Issue 2, 185–190, Version of Record online: 24 FEB 2011

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