rss

Register now to receive the Table of Contents and other relevant alerts by email each issue

January 2010, Volume 47, Issue 1

[Author index]

Cover
  1. Original article
  2. Letter to JMG
  3. Short report
  4. Mutation report
  5. PostScript
[Search ALL Issues]

View multiple abstracts by picking relevant boxes and click Get all checked abstracts

Issue information

[Front cover][Table of contents PDF][Editorial board PDF]

Original article

  • Admixture mapping of ankle–arm index: identification of a candidate locus associated with peripheral arterial disease

    • M L Scherer,
    • M A Nalls,
    • L Pawlikowska,
    • E Ziv,
    • G Mitchell,
    • S Huntsman,
    • D Hu,
    • K Sutton-Tyrrell,
    • E G Lakatta,
    • W-C Hsueh,
    • A B Newman,
    • A Tandon,
    • L Kim,
    • P-Y Kwok,
    • A Sung,
    • R Li,
    • B Psaty,
    • A P Reiner,
    • T Harris
    J Med Genet 2010;47:1 1-7 Published Online First: 7 July 2009 doi:10.1136/jmg.2008.064808

  • Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

    • D Doherty,
    • M A Parisi,
    • L S Finn,
    • M Gunay-Aygun,
    • M Al-Mateen,
    • D Bates,
    • C Clericuzio,
    • H Demir,
    • M Dorschner,
    • A J van Essen,
    • W A Gahl,
    • M Gentile,
    • N T Gorden,
    • A Hikida,
    • D Knutzen,
    • H Özyurek,
    • I Phelps,
    • P Rosenthal,
    • A Verloes,
    • H Weigand,
    • P F Chance,
    • W B Dobyns,
    • I A Glass
    J Med Genet 2010;47:1 8-21 Published Online First: 1 July 2009 doi:10.1136/jmg.2009.067249

  • MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

    • N Le Meur,
    • M Holder-Espinasse,
    • S Jaillard,
    • A Goldenberg,
    • S Joriot,
    • P Amati-Bonneau,
    • A Guichet,
    • M Barth,
    • A Charollais,
    • H Journel,
    • S Auvin,
    • C Boucher,
    • J-P Kerckaert,
    • V David,
    • S Manouvrier-Hanu,
    • P Saugier-Veber,
    • T Frébourg,
    • C Dubourg,
    • J Andrieux,
    • D Bonneau
    J Med Genet 2010;47:1 22-29 Published Online First: 9 July 2009 doi:10.1136/jmg.2009.069732
    Editor's Choice

  • Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome

    • H Vega,
    • A H Trainer,
    • M Gordillo,
    • M Crosier,
    • H Kayserili,
    • F Skovby,
    • M L Giovannucci Uzielli,
    • R E Schnur,
    • S Manouvrier,
    • E Blair,
    • J A Hurst,
    • F Forzano,
    • M Meins,
    • K O J Simola,
    • A Raas-Rothschild,
    • R C M Hennekam,
    • E Wang Jabs
    J Med Genet 2010;47:1 30-37 Published Online First: 1 July 2009 doi:10.1136/jmg.2009.068395

  • Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands

    • S S Cathey,
    • J G Leroy,
    • T Wood,
    • K Eaves,
    • R J Simensen,
    • M Kudo,
    • R E Stevenson,
    • M J Friez
    J Med Genet 2010;47:1 38-48 Published Online First: 16 July 2009 doi:10.1136/jmg.2009.067736

Letter to JMG

  • Novel FOXG1 mutations associated with the congenital variant of Rett syndrome

    • M A Mencarelli,
    • A Spanhol-Rosseto,
    • R Artuso,
    • D Rondinella,
    • R De Filippis,
    • N Bahi-Buisson,
    • J Nectoux,
    • R Rubinsztajn,
    • T Bienvenu,
    • A Moncla,
    • B Chabrol,
    • L Villard,
    • Z Krumina,
    • J Armstrong,
    • A Roche,
    • M Pineda,
    • E Gak,
    • F Mari,
    • F Ariani,
    • A Renieri
    J Med Genet 2010;47:1 49-53 Published Online First: 2 July 2009 doi:10.1136/jmg.2009.067884

  • Association between a polymorphism in the human programmed death-1 (PD-1) gene and cytomegalovirus infection after kidney transplantation

    • Thomas W Hoffmann,
    • Jean-Michel Halimi,
    • Mathias Büchler,
    • Florence Velge-Roussel,
    • Alain Goudeau,
    • Azmi Al-Najjar,
    • Jean-Frédéric Marliere,
    • Yvon Lebranchu,
    • Christophe Baron
    J Med Genet 2010;47:1 54-58 Published Online First: 5 July 2009 doi:10.1136/jmg.2009.068841

Short report

  • Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females

    • C Philippe,
    • D Amsallem,
    • C Francannet,
    • L Lambert,
    • A Saunier,
    • F Verneau,
    • P Jonveaux
    J Med Genet 2010;47:1 59-65 Published Online First: 29 June 2009 doi:10.1136/jmg.2009.067355

Mutation report

  • DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis

    • P Isohanni,
    • T Linnankivi,
    • J Buzkova,
    • T Lönnqvist,
    • H Pihko,
    • L Valanne,
    • P J Tienari,
    • I Elovaara,
    • T Pirttilä,
    • M Reunanen,
    • K Koivisto,
    • S Marjavaara,
    • A Suomalainen
    J Med Genet 2010;47:1 66-70 Published Online First: 9 July 2009 doi:10.1136/jmg.2009.068221

PostScript

  • Correspondence: A novel FTL insertion causing neuroferritinopathy

    • S Batey,
    • I Vuillaume,
    • D Devos,
    • A Destée,
    • A J Curtis,
    • A Lombes,
    • A Curtis,
    • J Burn,
    • P F Chinnery
    J Med Genet 2010;47:1 71-72 doi:10.1136/jmg.2008.061911

View multiple abstracts by picking relevant boxes and click Get all checked abstracts

Free sample
This recent issue is free to all users to allow everyone the opportunity to see the full scope and typical content of JMG.
View free sample issue >>

Don't forget to sign up for content alerts so you keep up to date with all the articles as they are published.

    • Latest genetics jobs

    Latest genetics jobs

    Show me all Genetics jobs >>