Clinical Genetics

Cover image for Vol. 84 Issue 1

July 2013

Volume 84, Issue 1

Pages 1–98

  1. REVIEW

    1. Top of page
    2. REVIEW
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    1. Epigenetic changes in diabetes (pages 1–10)

      ST Keating and A El-Osta

      Article first published online: 11 MAR 2013 | DOI: 10.1111/cge.12121

  2. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS

    1. Top of page
    2. REVIEW
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    1. ‘Information is information’: a public perspective on incidental findings in clinical and research genome-based testing (pages 11–18)

      S Daack-Hirsch, M Driessnack, A Hanish, VA Johnson, LL Shah, CM Simon and JK Williams

      Article first published online: 3 MAY 2013 | DOI: 10.1111/cge.12167

  3. HOTSPOTS

    1. Top of page
    2. REVIEW
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN 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. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    1. Protein expression studies of desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms (pages 20–30)

      TB Rasmussen, J Hansen, PH Nissen, J Palmfeldt, S Dalager, UB Jensen, WY Kim, L Heickendorff, H Mølgaard, HK Jensen, KE Sørensen, UT Baandrup, P Bross and J Mogensen

      Article first published online: 3 DEC 2012 | DOI: 10.1111/cge.12056

    2. Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH (pages 31–36)

      M Rio, G Royer, S Gobin, MC de Blois, C Ozilou, A Bernheim, M Nizon, A Munnich, J-P Bonnefont, S Romana, M Vekemans, C Turleau and V Malan

      Article first published online: 4 NOV 2012 | DOI: 10.1111/cge.12036

  5. SHORT REPORTS

    1. Top of page
    2. REVIEW
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    1. Parental origin of mutation and the risk of breast cancer in a prospective study of women with a BRCA1 or BRCA2 mutation (pages 43–46)

      N Senst, M Llacuachaqui, J Lubinski, H Lynch, S Armel, S Neuhausen, P Ghadirian, P Sun, SA Narod and the Hereditary Breast Cancer Study Group

      Article first published online: 7 NOV 2012 | DOI: 10.1111/cge.12037

    2. Application of chromosomal microarray in the evaluation of abnormal prenatal findings (pages 47–54)

      SA Yatsenko, S Davis, NW Hendrix, U Surti, S Emery, T Canavan, P Speer, L Hill, M Clemens and A Rajkovic

      Article first published online: 4 NOV 2012 | DOI: 10.1111/cge.12027

    3. The M694V mutation in Armenian-Americans: a 10-year retrospective study of MEFV mutation testing for familial Mediterranean fever at UCLA (pages 55–59)

      FS Ong, H Vakil, Y Xue, JZ Kuo, KH Shah, RB Lee, KE Bernstein, DL Rimoin, T Getzug, K Das, JL Deignan, JI Rotter and WW Grody

      Article first published online: 7 NOV 2012 | DOI: 10.1111/cge.12029

    4. Hereditary trichilemmal cysts: a proposal for the assessment of diagnostic clinical criteria (pages 65–69)

      S Seidenari, G Pellacani, S Nasti, A Tomasi, L Pastorino, P Ghiorzo, C Ruini, G Bianchi-Scarrà, A Pollio, VD Mandel and G Ponti

      Article first published online: 8 NOV 2012 | DOI: 10.1111/cge.12040

    5. First successful double-factor PGD for Lynch syndrome: monogenic analysis and comprehensive aneuploidy screening (pages 70–73)

      G Daina, L Ramos, A Obradors, M Rius, O Martinez-Pasarell, A Polo, J del Rey, J Obradors, J Benet and J Navarro

      Article first published online: 17 OCT 2012 | DOI: 10.1111/cge.12025

    6. Fragile X-associated tremor/ataxia syndrome (FXTAS) in grey zone carriers (pages 74–77)

      Y Liu, TI Winarni, L Zhang, F Tassone and RJ Hagerman

      Article first published online: 17 OCT 2012 | DOI: 10.1111/cge.12026

  6. LETTERS TO THE EDITOR

    1. Top of page
    2. REVIEW
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    1. OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment (pages 86–90)

      C Thauvin-Robinet, S Thomas, M Sinico, B Aral, L Burglen, N Gigot, H Dollfus, S Rossignol, M Raynaud, C Philippe, C Badens, R Touraine, C Gomes, B Franco, E Lopez, N Elkhartoufi, L Faivre, A Munnich, N Boddaert, L Van Maldergem, F Encha-Razavi, S Lyonnet, M Vekemans, E Escudier and T Attié-Bitach

      Article first published online: 4 OCT 2012 | DOI: 10.1111/cge.12013

    2. BMPR1A mutations in early-onset colorectal cancer with mismatch repair proficiency (pages 94–96)

      C Fernandez-Rozadilla, A Brea-Fernández, X Bessa, C Álvarez-Urturi, A Abulí, J Clofent, A Payá, The EPICOLON Consortium, R Jover, R Xicola, X Llor, M Andreu, A Castells, Á Carracedo, S Castellví-Bel and C Ruiz-Ponte

      Article first published online: 12 OCT 2012 | DOI: 10.1111/cge.12023

    3. Prenatal diagnostic conundrum involving a novel ATP7A duplication (pages 97–98)

      C Schoonveld, A Donsante, D del Gaudio, D Waggoner, S Das and SG Kaler

      Article first published online: 14 NOV 2012 | DOI: 10.1111/cge.12041

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