Clinical Genetics

© John Wiley & Sons A/S. Published by John Wiley & Sons Ltd

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
    1. The genetics of type 2 diabetes and its clinical relevance (pages 297–306)

      A Pal and MI McCarthy

      Version of Record online: 4 DEC 2012 | DOI: 10.1111/cge.12055

  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
    1. Building a brain in the gut: development of the enteric nervous system (pages 307–316)

      AM Goldstein, RMW Hofstra and AJ Burns

      Version of Record online: 27 NOV 2012 | DOI: 10.1111/cge.12054

  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
    1. Mutations in CIB2 calcium and integrin-binding protein disrupt auditory hair cell calcium homeostasis in Usher syndrome type 1J and non-syndromic deafness DFNB48 (pages 317–318)

      A Jan

      Version of Record online: 12 MAR 2013 | DOI: 10.1111/cge.12100

    2. Aberrant TGF-β signaling underlies the pathogenesis of aortic aneurysm in Shprintzen-Goldberg syndrome (pages 318–319)

      A Jan

      Version of Record online: 12 MAR 2013 | DOI: 10.1111/cge.12102

    3. KCNT1 mutations in ADNFLE and MMPSI: a new driver in the etiology and pathophysiology of early-onset epileptic syndromes (pages 319–320)

      F Aminkeng

      Version of Record online: 24 JAN 2013 | DOI: 10.1111/cge.12082

  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. Identification of single gene deletions at 15q13.3: further evidence that CHRNA7 causes the 15q13.3 microdeletion syndrome phenotype (pages 345–351)

      N Hoppman-Chaney, K Wain, PR Seger, DW Superneau and JC Hodge

      Version of Record online: 7 AUG 2012 | DOI: 10.1111/j.1399-0004.2012.01925.x

    3. 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

    4. 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

    5. 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

    6. Identification of a novel KCNQ1 mutation in a large Saudi family with long QT syndrome: clinical consequences and preventive implications (pages 370–374)

      ZMA Shinwari, A Al-Hazzani, N Dzimiri, S Tulbah, Y Mallawi, M Al-Fayyadh and ZN Al-Hassnan

      Version of Record online: 10 JUL 2012 | DOI: 10.1111/j.1399-0004.2012.01914.x

    7. 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

    8. Chinese patients with Huntington's disease initially presenting with spinocerebellar ataxia (pages 380–383)

      Y Dong, Y-M Sun, Z-J Liu, W Ni, S-S Shi and Z-Y Wu

      Version of Record online: 26 JUL 2012 | DOI: 10.1111/j.1399-0004.2012.01927.x

    9. Clinical spectrum of MEN2A in a large family caused by the infrequent RET mutation Cys609Phe (pages 384–387)

      J Oriola, J Biarnes, C Hernandez and R Simó

      Version of Record online: 23 JUL 2012 | DOI: 10.1111/j.1399-0004.2012.01921.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

    3. Successful long-term enzyme replacement therapy in a young adult with Fabry disease (pages 395–396)

      C Kampmann, G Kalkum, M Beck and C Whybra

      Version of Record online: 13 AUG 2012 | DOI: 10.1111/j.1399-0004.2012.01916.x

    4. Monozygotic twins discordant for port wine stains support the post-zygotic mutation hypothesis (pages 397–398)

      XD Chen, XJ Hu, G Ma and XX Lin

      Version of Record online: 1 AUG 2012 | DOI: 10.1111/j.1399-0004.2012.01926.x

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