Clinical Genetics

Cover image for Vol. 84 Issue 4

October 2013

Volume 84, Issue 4

Pages 303–395

  1. REVIEWS

    1. Top of page
    2. REVIEWS
    3. DEVELOPMENTAL BIOLOGY: FRONTIERS FOR CLINICAL GENETICS
    4. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    5. HOTSPOTS
    6. ORIGINAL ARTICLES
    7. SHORT REPORTS
    8. LETTERS TO THE EDITOR
    1. The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings (pages 303–314)

      FC Connell, K Gordon, G Brice, V Keeley, S Jeffery, PS Mortimer, S Mansour and P Ostergaard

      Version of Record online: 27 JUN 2013 | DOI: 10.1111/cge.12173

  2. DEVELOPMENTAL BIOLOGY: FRONTIERS FOR CLINICAL GENETICS

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

    1. Top of page
    2. REVIEWS
    3. DEVELOPMENTAL BIOLOGY: FRONTIERS FOR CLINICAL GENETICS
    4. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    5. HOTSPOTS
    6. ORIGINAL ARTICLES
    7. SHORT REPORTS
    8. LETTERS TO THE EDITOR
    1. Perceptions of genetic counseling services in direct-to-consumer personal genomic testing (pages 335–339)

      BF Darst, L Madlensky, NJ Schork, EJ Topol and CS Bloss

      Version of Record online: 13 MAY 2013 | DOI: 10.1111/cge.12166

  4. HOTSPOTS

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

    1. Top of page
    2. REVIEWS
    3. DEVELOPMENTAL BIOLOGY: FRONTIERS FOR CLINICAL GENETICS
    4. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    5. HOTSPOTS
    6. ORIGINAL ARTICLES
    7. SHORT REPORTS
    8. LETTERS TO THE EDITOR
    1. Cardiac characterization of 16 patients with large NF1 gene deletions (pages 344–349)

      R Nguyen, TS Mir, L Kluwe, K Jett, M Kentsch, G Mueller, H Kehrer-Sawatzki, JM Friedman and V-F Mautner

      Version of Record online: 28 DEC 2012 | DOI: 10.1111/cge.12072

    2. Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration (pages 350–355)

      O Dogu, CE Krebs, H Kaleagasi, Z Demirtas, N Oksuz, RH Walker and C Paisán-Ruiz

      Version of Record online: 21 JAN 2013 | DOI: 10.1111/cge.12079

  6. SHORT REPORTS

    1. Top of page
    2. REVIEWS
    3. DEVELOPMENTAL BIOLOGY: FRONTIERS FOR CLINICAL GENETICS
    4. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    5. HOTSPOTS
    6. ORIGINAL ARTICLES
    7. SHORT REPORTS
    8. LETTERS TO THE EDITOR
    1. Identification of seven novel SMPD1 mutations causing Niemann–Pick disease types A and B (pages 356–361)

      P Irun, M Mallén, C Dominguez, V Rodriguez-Sureda, LA Alvarez-Sala, N Arslan, N Bermejo, C Guerrero, I Perez de Soto, L Villalón, P Giraldo and M Pocovi

      Version of Record online: 4 JAN 2013 | DOI: 10.1111/cge.12076

    2. Syndromic non-compaction of the left ventricle: associated chromosomal anomalies (pages 362–367)

      MC Digilio, L Bernardini, MG Gagliardi, P Versacci, A Baban, R Capolino, ML Dentici, MC Roberti, A Angioni, A Novelli, B Marino and B Dallapiccola

      Version of Record online: 28 DEC 2012 | DOI: 10.1111/cge.12069

    3. Myoclonus-dystonia and Silver–Russell syndrome resulting from maternal uniparental disomy of chromosome 7 (pages 368–372)

      MB Sheridan, A Bytyci Telegrafi, V Stinnett, CC Umeh, Z Mari, TM Dawson, J Bodurtha and DAS Batista

      Version of Record online: 20 JAN 2013 | DOI: 10.1111/cge.12075

    4. A centralized approach to out-of-province genetic testing leads to cost savings: the Alberta experience (pages 373–377)

      M Lilley, S Christian, P Blumenschein, S Chan and M Somerville

      Version of Record online: 4 JAN 2013 | DOI: 10.1111/cge.12077

    5. A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family (pages 378–381)

      G Brice, P Ostergaard, S Jeffery, K Gordon, PS Mortimer and S Mansour

      Version of Record online: 26 APR 2013 | DOI: 10.1111/cge.12158

    6. New evidence for, and challenges in, linking small CGG repeat expansion FMR1 alleles with Parkinson's disease (pages 382–385)

      DZ Loesch, F Tassone, J Lo, HR Slater, LV Hills, MQ Bui, PA Silburn and GD Mellick

      Version of Record online: 25 DEC 2012 | DOI: 10.1111/cge.12070

  7. LETTERS TO THE EDITOR

    1. Top of page
    2. REVIEWS
    3. DEVELOPMENTAL BIOLOGY: FRONTIERS FOR CLINICAL GENETICS
    4. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    5. HOTSPOTS
    6. ORIGINAL ARTICLES
    7. SHORT REPORTS
    8. LETTERS TO THE EDITOR
    1. The L444P GBA mutation is associated with early-onset Parkinson's disease in Mexican Mestizos (pages 386–387)

      M de L González-del Rincón, N Monroy Jaramillo, AI Suárez Martínez, P Yescas Gómez, MC Boll Woehrlen, M López López and ME Alonso Vilatela

      Version of Record online: 1 MAR 2013 | DOI: 10.1111/cge.12084

    2. SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations (pages 388–391)

      ND Rendtorff, I Schrijver, M Lodahl, J Rodriguez-Paris, T Johnsen, EC Hansén, LAA Nickelsen, Z Tümer, T Fagerheim, R Wetke and L Tranebjærg

      Version of Record online: 22 JAN 2013 | DOI: 10.1111/cge.12074

    3. Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype (pages 392–393)

      J Hogue, C Lee, A Jelin, MN Strecker, VA Cox and AM Slavotinek

      Version of Record online: 28 DEC 2012 | DOI: 10.1111/cge.12073

    4. Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum (pages 394–395)

      AO Caglayan, H Per, G Akgumus, H Gumus, J Baranoski, M Canpolat, M Calik, A Yikilmaz, K Bilguvar, S Kumandas and M Gunel

      Version of Record online: 20 FEB 2013 | DOI: 10.1111/cge.12088

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