Clinical Genetics

Cover image for Vol. 83 Issue 4

April 2013

Volume 83, Issue 4

Pages 297–398

  1. REVIEW

    1. Top of page
    2. REVIEW
    3. DEVELOPMENTAL BIOLOGY: FRONTIERS FOR CLINICAL GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
  2. DEVELOPMENTAL BIOLOGY: FRONTIERS FOR CLINICAL GENETICS

    1. Top of page
    2. REVIEW
    3. DEVELOPMENTAL BIOLOGY: FRONTIERS FOR CLINICAL GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
  3. HOTSPOTS

    1. Top of page
    2. REVIEW
    3. DEVELOPMENTAL BIOLOGY: FRONTIERS FOR CLINICAL GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
  4. ORIGINAL ARTICLES

    1. Top of page
    2. REVIEW
    3. DEVELOPMENTAL BIOLOGY: FRONTIERS FOR CLINICAL GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    1. The natural history of a genetic subtype of arrhythmogenic right ventricular cardiomyopathy caused by a p.S358L mutation in TMEM43 (pages 321–331)

      KA Hodgkinson, SP Connors, N Merner, A Haywood, T-L Young, WJ McKenna, B Gallagher, F Curtis, AS Bassett and PS Parfrey

      Version of Record online: 13 AUG 2012 | DOI: 10.1111/j.1399-0004.2012.01919.x

    2. Germline RAD51C mutations in ovarian cancer susceptibility (pages 332–336)

      F Coulet, A Fajac, C Colas, M Eyries, A Dion-Minière, R Rouzier, S Uzan, J-P Lefranc, M Carbonnel, F Cornelis, A Cortez and F Soubrier

      Version of Record online: 23 JUL 2012 | DOI: 10.1111/j.1399-0004.2012.01917.x

  5. SHORT REPORTS

    1. Top of page
    2. REVIEW
    3. DEVELOPMENTAL BIOLOGY: FRONTIERS FOR CLINICAL GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    1. An unanticipated copy number variant of chromosome 15 disrupting SMAD3 reveals a three-generation family at serious risk for aortic dissection (pages 337–344)

      Y Hilhorst-Hofstee, AJHA Scholte, MEB Rijlaarsdam, A van Haeringen, LJ Kroft, M Reijnierse, CAL Ruivenkamp, MIM Versteegh, G Pals and MH Breuning

      Version of Record online: 21 AUG 2012 | DOI: 10.1111/j.1399-0004.2012.01931.x

    2. X-linked CHARGE-like Abruzzo–Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations (pages 352–358)

      E Pauws, E Peskett, C Boissin, A Hoshino, K Mengrelis, E Carta, MA Abruzzo, M Lees, GE Moore, RP Erickson and P Stanier

      Version of Record online: 7 AUG 2012 | DOI: 10.1111/j.1399-0004.2012.01930.x

    3. Impact of gynecological screening in Lynch syndrome carriers with an MSH2 mutation (pages 359–364)

      S Stuckless, J Green, L Dawson, B Barrett, MO Woods, E Dicks and PS Parfrey

      Version of Record online: 7 AUG 2012 | DOI: 10.1111/j.1399-0004.2012.01929.x

    4. Large deletions and splicing-site mutations in the STK11 gene in Peutz-Jeghers Chilean families (pages 365–369)

      P Orellana, F López-Köstner, C Heine, C Suazo, E Pinto, J Church, P Carvallo and K Alvarez

      Version of Record online: 7 AUG 2012 | DOI: 10.1111/j.1399-0004.2012.01928.x

    5. Craniofacial variations in the tricho-dento-osseous syndrome (pages 375–379)

      T Nguyen, C Phillips, S Frazier-Bower and T Wright

      Version of Record online: 25 JUN 2012 | DOI: 10.1111/j.1399-0004.2012.01907.x

  6. LETTERS TO THE EDITOR

    1. Top of page
    2. REVIEW
    3. DEVELOPMENTAL BIOLOGY: FRONTIERS FOR CLINICAL GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    1. Mutational analysis of PMP22, EGR2, LITAF and NEFL in Greek Charcot–Marie–Tooth type 1 patients (pages 388–391)

      G Koutsis, A Pandraud, G Karadima, M Panas, MM Reilly, P Floroskufi, NW Wood and H Houlden

      Version of Record online: 5 JUL 2012 | DOI: 10.1111/j.1399-0004.2012.01910.x

    2. Phenotypic heterogeneity and full penetrance in a family with dopa-responsive dystonia (pages 392–394)

      S Karkheiran, B Hubert, HN Moghaddam, H Darvish and C Paisán-Ruiz

      Version of Record online: 9 JUL 2012 | DOI: 10.1111/j.1399-0004.2012.01915.x

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