Clinical Genetics

Cover image for Vol. 82 Issue 6

December 2012

Volume 82, Issue 6

Pages 505–602

  1. ORIGINAL ARTICLES

    1. Top of page
    2. ORIGINAL ARTICLES
    3. HOTSPOTS
    4. SHORT REPORTS
    5. LETTERS TO THE EDITOR
    1. 46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism (pages 505–513)

      S Stoppa-Vaucher, T Ayabe, J Paquette, N Patey, D Francoeur, J-M Vuissoz, J Deladoëy, ME Samuels, T Ogata and CL Deal

      Article first published online: 30 JAN 2012 | DOI: 10.1111/j.1399-0004.2011.01832.x

    2. You have full text access to this OnlineOpen article
  2. HOTSPOTS

    1. Top of page
    2. ORIGINAL ARTICLES
    3. HOTSPOTS
    4. SHORT REPORTS
    5. LETTERS TO THE EDITOR
  3. SHORT REPORTS

    1. Top of page
    2. ORIGINAL ARTICLES
    3. HOTSPOTS
    4. SHORT REPORTS
    5. LETTERS TO THE EDITOR
    1. What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome? (pages 526–533)

      J Zhang, X Bao, G Cao, S Jiang, X Zhu, H Lu, L Jia, H Pan, S Fehr, M Davis, H Leonard, D Ravine and X Wu

      Article first published online: 20 JAN 2012 | DOI: 10.1111/j.1399-0004.2011.01838.x

    2. A c.3216_3217delGA mutation in AGL gene in Tunisian patients with a glycogen storage disease type III: evidence of a founder effect (pages 534–539)

      A Mili, I Ben Charfeddine, A Amara, O Mamaï, L Adala, T Ben Lazreg, J Bouguila, A Saad, K Limem and M Gribaa

      Article first published online: 23 NOV 2011 | DOI: 10.1111/j.1399-0004.2011.01806.x

    3. Cystic fibrosis mutations for p.F508del compound heterozygotes predict sweat chloride levels and pancreatic sufficiency (pages 546–551)

      R Sebro, H Levy, K Schneck, D Dimmock, BA Raby, CL Cannon, U Broeckel and NJ Risch

      Article first published online: 29 NOV 2011 | DOI: 10.1111/j.1399-0004.2011.01804.x

    4. Hepatic manifestations of tuberous sclerosis complex: a genotypic and phenotypic analysis (pages 552–557)

      ME Black, SS Hedgire, S Camposano, E Paul, M Harisinghani and EA Thiele

      Article first published online: 2 FEB 2012 | DOI: 10.1111/j.1399-0004.2012.01845.x

    5. You have free access to this content
      Pancreatic neuroendocrine tumors in patients with tuberous sclerosis complex (pages 558–563)

      AM Larson, SS Hedgire, V Deshpande, AO Stemmer-Rachamimov, MG Harisinghani, CR Ferrone, U Shah and EA Thiele

      Article first published online: 29 NOV 2011 | DOI: 10.1111/j.1399-0004.2011.01805.x

    6. Childhood adrenocortical carcinoma as a sentinel cancer for detecting families with germline TP53 mutations (pages 564–568)

      SS Choong, ZA Latiff, M Mohamed, LLW Lim, KS Chen, L Vengidasan, H Razali, EJ Abdul Rahman, H Ariffin and for Malaysian Society of Paediatric Haematology-Oncology

      Article first published online: 30 JAN 2012 | DOI: 10.1111/j.1399-0004.2012.01841.x

    7. FOXG1 mutations in Japanese patients with the congenital variant of Rett syndrome (pages 569–573)

      S Takahashi, N Matsumoto, A Okayama, N Suzuki, A Araki, K Okajima, H Tanaka and A Miyamoto

      Article first published online: 16 DEC 2011 | DOI: 10.1111/j.1399-0004.2011.01819.x

    8. Isolated cardiomyopathy caused by a DMD nonsense mutation in somatic mosaicism: genetic normalization in skeletal muscle (pages 574–578)

      J Juan-Mateu, C Paradas, M Olivé, E Verdura, E Rivas, L González-Quereda, MJ Rodríguez, M Baiget and P Gallano

      Article first published online: 13 DEC 2011 | DOI: 10.1111/j.1399-0004.2011.01814.x

    9. DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech population (pages 579–582)

      D Šafka Brožková, J Laštůvková, H Štěpánková, M Krůtová, M Trková, P Myška and P Seeman

      Article first published online: 13 DEC 2011 | DOI: 10.1111/j.1399-0004.2011.01817.x

    10. Doubling the referral rate of monogenic diabetes through a nationwide information campaign – update on glucokinase gene mutations in a Polish cohort (pages 587–590)

      M Borowiec, W Fendler, K Antosik, A Baranowska, P Gnys, A Zmyslowska, M Malecki and W Mlynarski

      Article first published online: 30 DEC 2011 | DOI: 10.1111/j.1399-0004.2011.01803.x

  4. LETTERS TO THE EDITOR

    1. Top of page
    2. ORIGINAL ARTICLES
    3. HOTSPOTS
    4. SHORT REPORTS
    5. LETTERS TO THE EDITOR
    1. Detection of BRCA1/2 mutations in breast cancer patients from Thailand and Pakistan (pages 594–598)

      J Ahmad, F Le Calvez-Kelm, S Daud, C Voegele, M Vallée, A Ahmad, N Kakar, JD McKay, V Gaborieau, M Léoné, O Sinilnikova, S Sangrajrang, SV Tavtigian and F Lesueur

      Article first published online: 8 APR 2012 | DOI: 10.1111/j.1399-0004.2012.01869.x

    2. An intronic mutation causes severe LGMD2A in a large inbred family belonging to a genetic isolate in the Alps (pages 601–602)

      M Fanin, F Benedicenti, C Fritegotto, AC Nascimbeni, E Peterle, F Stanzial, A Cristofoletti, C Castellan and C Angelini

      Article first published online: 9 APR 2012 | DOI: 10.1111/j.1399-0004.2012.01873.x

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