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November 2004, Volume 41, Issue 11

[Author index]

Cover
  1. Electronic letters
  2. Online mutation reports
  3. Review
  4. Original articles
  5. Retraction
  6. Short report
  7. Letters to JMG
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Issue information

[Table of contents PDF]

Electronic letters

  • Relation of type 2 diabetes to individual admixture and candidate gene polymorphisms in the Hispanic American population of San Luis Valley, Colorado

    • E J Parra,
    • C J Hoggart,
    • C Bonilla,
    • S Dios,
    • J M Norris,
    • J A Marshall,
    • R F Hamman,
    • R E Ferrell,
    • P M McKeigue,
    • M D Shriver
    J Med Genet 2004;41:11 e116 doi:10.1136/jmg.2004.018887

Online mutation reports

  • PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience

    • B Keren,
    • A Hadchouel,
    • S Saba,
    • Y Sznajer,
    • D Bonneau,
    • B Leheup,
    • O Boute,
    • D Gaillard,
    • D Lacombe,
    • V Layet,
    • S Marlin,
    • G Mortier,
    • A Toutain,
    • C Beylot,
    • C Baumann,
    • A Verloes,
    • H Cavé
    J Med Genet 2004;41:11 e117 doi:10.1136/jmg.2004.021451

  • Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis

    • F Niel,
    • J Martin,
    • F Dastot-Le Moal,
    • B Costes,
    • B Boissier,
    • V Delattre,
    • M Goossens,
    • E Girodon
    J Med Genet 2004;41:11 e118 doi:10.1136/jmg.2004.022400

  • No live individual homozygous for a novel endoglin mutation was found in a consanguineous Arab family with hereditary haemorrhagic telangiectasia

    • A Karabegovic,
    • M Shinawi,
    • U Cymerman,
    • M Letarte
    J Med Genet 2004;41:11 e119 doi:10.1136/jmg.2004.022079

  • Germline CHEK2*1100delC mutations in breast cancer patients with multiple primary cancers

    • J Huang,
    • S M Domchek,
    • M S Brose,
    • T R Rebbeck,
    • K L Nathanson,
    • B L Weber
    J Med Genet 2004;41:11 e120 doi:10.1136/jmg.2004.022913

Review

  • Clinical genetic counselling for familial cancers requires reliable data on familial cancer risks and general action plans

    • K Hemminki,
    • C Eng
    J Med Genet 2004;41:11 801-807 doi:10.1136/jmg.2004.022731

Original articles

  • TLR4 and TNF-α polymorphisms are associated with an increased risk for severe sepsis following burn injury

    • R C Barber,
    • C C Aragaki,
    • F A Rivera-Chavez,
    • G F Purdue,
    • J L Hunt,
    • J W Horton
    J Med Genet 2004;41:11 808-813 doi:10.1136/jmg.2004.021600

  • Sequence family variant loss from the AZFc interval of the human Y chromosome, but not gene copy loss, is strongly associated with male infertility

    • N Machev,
    • N Saut,
    • G Longepied,
    • P Terriou,
    • A Navarro,
    • N Levy,
    • M Guichaoua,
    • C Metzler-Guillemain,
    • P Collignon,
    • A-M Frances,
    • J Belougne,
    • E Clemente,
    • J Chiaroni,
    • C Chevillard,
    • C Durand,
    • A Ducourneau,
    • N Pech,
    • K McElreavey,
    • M-G Mattei,
    • M J Mitchell
    J Med Genet 2004;41:11 814-825 doi:10.1136/jmg.2004.022111

  • FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients

    • T Rijkers,
    • G Deidda,
    • S van Koningsbruggen,
    • M van Geel,
    • R J L F Lemmers,
    • J C T van Deutekom,
    • D Figlewicz,
    • J E Hewitt,
    • G W Padberg,
    • R R Frants,
    • S M van der Maarel
    J Med Genet 2004;41:11 826-836 doi:10.1136/jmg.2004.019364

Retraction

  • Retraction statement

    J Med Genet 2004;41:11 813

Short report

  • Neurofibromatous neuropathy in neurofibromatosis 1 (NF1)

    • R E Ferner,
    • R A C Hughes,
    • S M Hall,
    • M Upadhyaya,
    • M R Johnson
    J Med Genet 2004;41:11 837-841 doi:10.1136/jmg.2004.021683

Letters to JMG

  • Missense mutations of ACTA1 cause dominant congenital myopathy with cores

    • A M Kaindl,
    • F Rüschendorf,
    • S Krause,
    • H-H Goebel,
    • K Koehler,
    • C Becker,
    • D Pongratz,
    • J Müller-Höcker,
    • P Nürnberg,
    • G Stoltenburg-Didinger,
    • H Lochmüller,
    • A Huebner
    J Med Genet 2004;41:11 842-848 doi:10.1136/jmg.2004.020271

  • A novel locus for autosomal recessive form of hypotrichosis maps to chromosome 3q26.33–q27.3

    • M Aslam,
    • M H Chahrour,
    • A Razzaq,
    • S Haque,
    • K Yan,
    • S M Leal,
    • W Ahmad
    J Med Genet 2004;41:11 849-852 doi:10.1136/jmg.2004.019729

  • Putative functional alleles of DYX1C1 are not associated with dyslexia susceptibility in a large sample of sibling pairs from the UK

    • T S Scerri,
    • S E Fisher,
    • C Francks,
    • I L MacPhie,
    • S Paracchini,
    • A J Richardson,
    • J F Stein,
    • A P Monaco
    J Med Genet 2004;41:11 853-857 doi:10.1136/jmg.2004.018341

  • A new locus for a childhood onset, slowly progressive autosomal recessive spinocerebellar ataxia maps to chromosome 11p15

    • G J Breedveld,
    • B van Wetten,
    • G D te Raa,
    • E Brusse,
    • J C van Swieten,
    • B A Oostra,
    • J A Maat-Kievit
    J Med Genet 2004;41:11 858-866 doi:10.1136/jmg.2004.019232

  • The ser9gly SNP in the dopamine D3 receptor causes a shift from cAMP related to PGE2 related signal transduction mechanisms in transfected CHO cells

    • M Hellstrand,
    • E A Danielsen,
    • V M Steen,
    • A Ekman,
    • E Eriksson,
    • C L Nilsson
    J Med Genet 2004;41:11 867-871 doi:10.1136/jmg.2004.020941

  • A gene responsible for autosomal dominant auditory neuropathy (AUNA1) maps to 13q14–21

    • T B Kim,
    • B Isaacson,
    • T A Sivakumaran,
    • A Starr,
    • B J B Keats,
    • M M Lesperance
    J Med Genet 2004;41:11 872-876 doi:10.1136/jmg.2004.020628

  • Increased recurrence risk in congenital disorders of glycosylation type Ia (CDG-Ia) due to a transmission ratio distortion

    • E Schollen,
    • S Kjaergaard,
    • T Martinsson,
    • S Vuillaumier-Barrot,
    • M Dunoe,
    • L Keldermans,
    • N Seta,
    • G Matthijs
    J Med Genet 2004;41:11 877-880 doi:10.1136/jmg.2004.022350

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