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September 2008, Volume 45, Issue 9

[Author index]

Cover
  1. Online mutation report
  2. Review
  3. Original articles
  4. Letter to JMG
  5. Mutation report
  6. Correspondence
  7. Correction
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Issue information

[Table of contents PDF][Front matter PDF]

Online mutation report

  • Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita

    • M G Shaikh,
    • L Boyes,
    • H Kingston,
    • R Collins,
    • G T N Besley,
    • B Padmakumar,
    • O Ismayl,
    • I Hughes,
    • C M Hall,
    • C Hellerud,
    • J C Achermann,
    • P E Clayton
    J Med Genet 2008;45:9 e1 doi:10.1136/jmg.2007.055129
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Review

  • Complex and segmental uniparental disomy updated

    • D Kotzot
    J Med Genet 2008;45:9 545-556 Published Online First: 4 June 2008 doi:10.1136/jmg.2008.058016

Original articles

  • Comparison of predictive models, clinical criteria and molecular tumour screening for the identification of patients with Lynch syndrome in a population-based cohort of colorectal cancer patients

    • J Balmaña,
    • F Balaguer,
    • S Castellví-Bel,
    • E W Steyerberg,
    • M Andreu,
    • X Llor,
    • R Jover,
    • A Castells,
    • S Syngal,
    • for the Gastrointestinal Oncology Group of the Spanish Gastroenterological Association
    J Med Genet 2008;45:9 557-563 Published Online First: 25 June 2008 doi:10.1136/jmg.2008.059311

  • Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation

    • V Laugel,
    • C Dalloz,
    • E S Tobias,
    • J L Tolmie,
    • D Martin-Coignard,
    • V Drouin-Garraud,
    • V Valayannopoulos,
    • A Sarasin,
    • H Dollfus
    J Med Genet 2008;45:9 564-571 Published Online First: 15 July 2008 doi:10.1136/jmg.2007.057141

  • Prevalence and heritability of the metabolic syndrome and its individual components in a Dutch isolate: the Erasmus Rucphen Family study

    • P Henneman,
    • Y S Aulchenko,
    • R R Frants,
    • K W van Dijk,
    • B A Oostra,
    • C M van Duijn
    J Med Genet 2008;45:9 572-577 Published Online First: 11 June 2008 doi:10.1136/jmg.2008.058388

  • Bitter taste receptor gene polymorphisms are an important factor in the development of nicotine dependence in African Americans

    • J E Mangold,
    • T J Payne,
    • J Z Ma,
    • G Chen,
    • M D Li
    J Med Genet 2008;45:9 578-582 Published Online First: 4 June 2008 doi:10.1136/jmg.2008.057844

  • Dynamic CpG methylation of the KCNQ1OT1 gene during maturation of human oocytes

    • R Khoureiry,
    • S Ibala-Rhomdane,
    • L Méry,
    • T Blachère,
    • J-F Guérin,
    • J Lornage,
    • A Lefèvre
    J Med Genet 2008;45:9 583-588 doi:10.1136/jmg.2008.057943

  • Triphalangeal thumb–polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer

    • M Sun,
    • F Ma,
    • X Zeng,
    • Q Liu,
    • X-L Zhao,
    • F-X Wu,
    • G-P Wu,
    • Z-F Zhang,
    • B Gu,
    • Y-F Zhao,
    • S-H Tian,
    • B Lin,
    • X-Y Kong,
    • X-L Zhang,
    • W Yang,
    • W H-Y Lo,
    • X Zhang
    J Med Genet 2008;45:9 589-595 Published Online First: 16 April 2008 doi:10.1136/jmg.2008.057646

Letter to JMG

  • Coexistence of mutations in PINK1 and mitochondrial DNA in early onset parkinsonism

    • C Piccoli,
    • M Ripoli,
    • G Quarato,
    • R Scrima,
    • A D’Aprile,
    • D Boffoli,
    • M Margaglione,
    • C Criscuolo,
    • G De Michele,
    • A Sardanelli,
    • S Papa,
    • N Capitanio
    J Med Genet 2008;45:9 596-602 Published Online First: 4 June 2008 doi:10.1136/jmg.2008.058628

Mutation report

  • Identification of a novel TP53 germline mutation E285V in a rare case of paediatric adrenocortical carcinoma and choroid plexus carcinoma

    • A Russell-Swetek,
    • A N West,
    • J E Mintern,
    • J Jenkins,
    • C Rodriguez-Galindo,
    • R Ribeiro,
    • G P Zambetti
    J Med Genet 2008;45:9 603-606 doi:10.1136/jmg.2008.059568

Correspondence

  • GJB2 and hearing impairment: promoter defects do not explain the excess of monoallelic mutations

    • A Pollak,
    • M Mueller-Malesińska,
    • A Skórka,
    • G Kostrzewa,
    • M Ołdak,
    • L Korniszewski,
    • H Skarżyński,
    • R Ploski
    J Med Genet 2008;45:9 607-608 doi:10.1136/jmg.2008.059873

Correction

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