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January 2009, Volume 46, Issue 1

[Author index]

Cover
  1. Review
  2. Original articles
  3. Letters to JMG
  4. Mutation reports
  5. Correction
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Issue information

[Table of contents PDF][Front matter PDF]

Review

  • Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist

    • C Lintas,
    • A M Persico
    J Med Genet 2009;46:1 1-8 Published Online First: 26 August 2008 doi:10.1136/jmg.2008.060871
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Original articles

  • Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome

    • M J Lyons,
    • J M Graham, Jr,
    • G Neri,
    • A G W Hunter,
    • R D Clark,
    • R C Rogers,
    • M Moscarda,
    • L Boccuto,
    • R Simensen,
    • J Dodd,
    • S Robertson,
    • B R DuPont,
    • M J Friez,
    • C E Schwartz,
    • R E Stevenson
    J Med Genet 2009;46:1 9-13 Published Online First: 19 September 2008 doi:10.1136/jmg.2008.060509

  • Mutation in the HPGD gene encoding NAD+ dependent 15-hydroxyprostaglandin dehydrogenase underlies isolated congenital nail clubbing (ICNC)

    • M Tariq,
    • Z Azeem,
    • G Ali,
    • M S Chishti,
    • W Ahmad
    J Med Genet 2009;46:1 14-20 Published Online First: 19 September 2008 doi:10.1136/jmg.2008.061234

  • Phenotypic variation within European carriers of the Y-chromosomal gr/gr deletion is independent of Y-chromosomal background

    • C Krausz,
    • C Giachini,
    • Y Xue,
    • M K O’Bryan,
    • J Gromoll,
    • E Rajpert-de Meyts,
    • R Oliva,
    • I Aknin-Seifer,
    • E Erdei,
    • N Jorgensen,
    • M Simoni,
    • J L Ballescà,
    • R Levy,
    • G Balercia,
    • P Piomboni,
    • E Nieschlag,
    • G Forti,
    • R McLachlan,
    • C Tyler-Smith
    J Med Genet 2009;46:1 21-31 Published Online First: 9 September 2008 doi:10.1136/jmg.2008.059915

  • Functional polymorphisms in the BRCA1 promoter influence transcription and are associated with decreased risk for breast cancer in Chinese women

    • K Y-K Chan,
    • W Liu,
    • J-R Long,
    • S-P Yip,
    • S-Y Chan,
    • X-O Shu,
    • D T-T Chua,
    • A N-Y Cheung,
    • J C-Y Ching,
    • H Cai,
    • G K-H Au,
    • M Chan,
    • W Foo,
    • H Y-S Ngan,
    • Y-T Gao,
    • E S-W Ngan,
    • M-M Garcia-Barceló,
    • Wei Zheng,
    • U-S Khoo
    J Med Genet 2009;46:1 32-39 Published Online First: 9 September 2008 doi:10.1136/jmg.2007.057174

  • Site-dependent differences in both prelamin A and adipogenic genes in subcutaneous adipose tissue of patients with type 2 familial partial lipodystrophy

    • D Araújo-Vilar,
    • G Lattanzi,
    • B González-Méndez,
    • A T Costa-Freitas,
    • D Prieto,
    • M Columbaro,
    • E Mattioli,
    • B Victoria,
    • N Martínez-Sánchez,
    • A Ramazanova,
    • M Fraga,
    • A Beiras,
    • J Forteza,
    • L Domínguez-Gerpe,
    • C Calvo,
    • J Lado-Abeal
    J Med Genet 2009;46:1 40-48 Published Online First: 19 September 2008 doi:10.1136/jmg.2008.059485

Letters to JMG

  • Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation

    • L I Elizondo,
    • K S Cho,
    • W Zhang,
    • J Yan,
    • C Huang,
    • Y Huang,
    • K Choi,
    • E A Sloan,
    • K Deguchi,
    • S Lou,
    • A Baradaran-Heravi,
    • H Takashima,
    • T Lücke,
    • F A Quiocho,
    • C F Boerkoel
    J Med Genet 2009;46:1 49-59 Published Online First: 19 September 2008 doi:10.1136/jmg.2008.060095

  • Six new coeliac disease loci replicated in an Italian population confirm association with coeliac disease

    • J Romanos,
    • D Barisani,
    • G Trynka,
    • A Zhernakova,
    • M T Bardella,
    • C Wijmenga
    J Med Genet 2009;46:1 60-63 Published Online First: 19 September 2008 doi:10.1136/jmg.2008.061457

Mutation reports

  • NARP syndrome in a patient harbouring an insertion in the MT-ATP6 gene that results in a truncated protein

    • E López-Gallardo,
    • A Solano,
    • M D Herrero-Martín,
    • Í Martínez-Romero,
    • M D Castaño-Pérez,
    • A L Andreu,
    • A Herrera,
    • M J López-Pérez,
    • E Ruiz-Pesini,
    • J Montoya
    J Med Genet 2009;46:1 64-67 doi:10.1136/jmg.2008.060616

  • Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1

    • J J Swensen,
    • J Keyser,
    • C M Coffin,
    • J A Biegel,
    • D H Viskochil,
    • M S Williams
    J Med Genet 2009;46:1 68-72 doi:10.1136/jmg.2008.060152

Correction

  • Correction

    J Med Genet 2009;46:1 72 doi:10.1136/jmg.2008.060442corr1

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