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January 2004, Volume 41, Issue 1

[Author index]

Cover
  1. Hypothesis
  2. Electronic letters
  3. Original article
  4. Online mutation reports
  5. Echoes
  6. Short reports
  7. Letters to JMG
  8. Corrections
  9. Electronic pages
  10. Book Review
  11. Book Review
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Hypothesis

  • BRCA1 functions as a breast stem cell regulator

    • W D Foulkes
    J Med Genet 2004;41:1 1-5 doi:10.1136/jmg.2003.013805

Electronic letters

  • Isolated Robin sequence associated with a balanced t(2;17) chromosomal translocation

    • N Jamshidi,
    • I Macciocca,
    • P A Dargaville,
    • P Thomas,
    • N Kilpatrick,
    • R J McKinlay Gardner,
    • P G Farlie
    J Med Genet 2004;41:1 e1 doi:10.1136/jmg.2003.010157

  • Linkage mapping of systemic lupus erythematosus (SLE) in Finnish families multiply affected by SLE

    • S Koskenmies,
    • P Lahermo,
    • H Julkunen,
    • V Ollikainen,
    • J Kere,
    • E Widén
    J Med Genet 2004;41:1 e2-e5 doi:10.1136/jmg.2003.009977

  • Induction of instability of normal length trinucleotide repeats within human disease genes

    • L Fernàndez-López,
    • E Piñeiro,
    • R Marcos,
    • A Velázquez,
    • J Surrallés
    J Med Genet 2004;41:1 e3 doi:10.1136/jmg.2003.010298

  • Epigenetic abnormalities of the mannose-6-phosphate/IGF2 receptor gene are uncommon in human overgrowth syndromes

    • C Gicquel,
    • J Weiss,
    • J Amiel,
    • V Gaston,
    • Y Le Bouc,
    • C D Scott
    J Med Genet 2004;41:1 e4 doi:10.1136/jmg.2003.010488

  • Genetic correlation between plasma levels of C4BP isoforms containing β chains and susceptibility to thrombosis

    • J Esparza-Gordillo,
    • J M Soria,
    • A Buil,
    • J C Souto,
    • L Almasy,
    • J Blangero,
    • S R de Córdoba,
    • J Fontcuberta
    J Med Genet 2004;41:1 e5 doi:10.1136/jmg.2003.010611

  • Founder mutations of CYP1B1 gene in patients with congenital glaucoma from the United States and Brazil

    • D F Sena,
    • S Finzi,
    • K Rodgers,
    • E Del Bono,
    • J L Haines,
    • J L Wiggs
    J Med Genet 2004;41:1 e6 doi:10.1136/jmg.2003.010777

  • No evidence of an association between the T16189C mtDNA variant and late onset dementia

    • A M Gibson,
    • J A Edwardson,
    • D M Turnbull,
    • I G McKeith,
    • C M Morris,
    • P F Chinnery
    J Med Genet 2004;41:1 e7 doi:10.1136/jmg.2003.010983

Original article

  • The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading

    • K J Livesey,
    • V L C Wimhurst,
    • K Carter,
    • M Worwood,
    • E Cadet,
    • J Rochette,
    • A G Roberts,
    • J J Pointon,
    • A T Merryweather-Clarke,
    • M L Bassett,
    • A-M Jouanolle,
    • A Mosser,
    • V David,
    • J Poulton,
    • K J H Robson
    J Med Genet 2004;41:1 6-10 doi:10.1136/jmg.2003.008805

Online mutation reports

  • Lack of founder haplotype for the rapsyn N88K mutation: N88K is an ancient founder mutation or arises from multiple founders

    • K Ohno,
    • A G Engel
    J Med Genet 2004;41:1 e8 doi:10.1136/jmg.2003.012245

  • A novel COCH mutation, V104del, impairs folding of the LCCL domain of cochlin and causes progressive hearing loss

    • I Nagy,
    • M Horváth,
    • M Trexler,
    • G Répássy,
    • L Patthy
    J Med Genet 2004;41:1 e9 doi:10.1136/jmg.2003.012286

  • Clinical and genetic characteristics of α cardiac actin gene mutations in hypertrophic cardiomyopathy

    • J Mogensen,
    • A Perrot,
    • P S Andersen,
    • O Havndrup,
    • I C Klausen,
    • M Christiansen,
    • P Bross,
    • H Egeblad,
    • H Bundgaard,
    • K J Osterziel,
    • G Haltern,
    • H Lapp,
    • P Reinecke,
    • N Gregersen,
    • A D Børglum
    J Med Genet 2004;41:1 e10 doi:10.1136/jmg.2003.010447

  • Novel germline mutations in the adenomatous polyposis coli gene in Polish families with familial adenomatous polyposis

    • A Plawski,
    • J Lubiński,
    • T Banasiewicz,
    • J Paszkowski,
    • D Lipinski,
    • A Strembalska,
    • G Kurzawski,
    • T Byrski,
    • S Zajaczek,
    • D Hodorowicz-Zaniewska,
    • T Gach,
    • I Brożek,
    • D Nowakowska,
    • E Czkwaniec,
    • P Krokowicz,
    • M Drews,
    • J Zeyland,
    • W Juzwa,
    • R Słomski
    J Med Genet 2004;41:1 e11 doi:10.1136/jmg.2003.010215

  • Very low penetrance in 85 Japanese families with facioscapulohumeral muscular dystrophy 1A

    • K Goto,
    • I Nishino,
    • Y K Hayashi
    J Med Genet 2004;41:1 e12 doi:10.1136/jmg.2003.008755

Echoes

  • Heart disease common in Leber’s optic neuropathy

    J Med Genet 2004;41:1 10

  • Growing up abolishes a genetic protection against asthma

    J Med Genet 2004;41:1 17

  • DQB1 alleles affect susceptibility to pulmonary TB in Europeans

    J Med Genet 2004;41:1 24

  • BRAF mutations in cholangiocarcinoma

    J Med Genet 2004;41:1 34

  • Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A: F Brancati, E M Valente, N P Davies, A Sarkozy, M G Sweeney, M LoMonaco, A Pizzuti, M G Hanna, B Dallapiccola

    J Med Genet 2004;41:1 41

  • A new PHOX2B polymorphism is associated with Hirschsprung’s disease

    J Med Genet 2004;41:1 67

Short reports

  • A novel locus for autosomal dominant non-syndromic hearing loss, DFNA31, maps to chromosome 6p21.3

    • R L Snoeckx,
    • H Kremer,
    • R J H Ensink,
    • K Flothmann,
    • A de Brouwer,
    • R J H Smith,
    • C W R J Cremers,
    • G Van Camp
    J Med Genet 2004;41:1 11-13 doi:10.1136/jmg.2003.010702

  • Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome

    • P Bénit,
    • A Slama,
    • F Cartault,
    • I Giurgea,
    • D Chretien,
    • S Lebon,
    • C Marsac,
    • A Munnich,
    • A Rötig,
    • P Rustin
    J Med Genet 2004;41:1 14-17 doi:10.1136/jmg.2003.014316

Letters to JMG

  • Screening for genomic rearrangements of the MMR genes must be included in the routine diagnosis of HNPCC

    • F Di Fiore,
    • F Charbonnier,
    • C Martin,
    • S Frerot,
    • S Olschwang,
    • Q Wang,
    • C Boisson,
    • M-P Buisine,
    • M Nilbert,
    • A Lindblom,
    • T Frebourg
    J Med Genet 2004;41:1 18-20 doi:10.1136/jmg.2003.012062

  • Common apolipoprotein E polymorphisms and risk of clinical malaria in the Gambia

    • C Aucan,
    • A J Walley,
    • A V S Hill
    J Med Genet 2004;41:1 21-24 doi:10.1136/jmg.2003.011981

  • Refining the phenotype of common mutations in Rett syndrome

    • L Colvin,
    • H Leonard,
    • N de Klerk,
    • M Davis,
    • L Weaving,
    • S Williamson,
    • J Christodoulou
    J Med Genet 2004;41:1 25-30 doi:10.1136/jmg.2003.011130

  • A case control and family based association study of the neuregulin1 gene and schizophrenia

    • X Zhao,
    • Y Shi,
    • J Tang,
    • R Tang,
    • L Yu,
    • N Gu,
    • G Feng,
    • S Zhu,
    • H Liu,
    • Y Xing,
    • S Zhao,
    • H Sang,
    • Y Guan,
    • D St Clair,
    • L He
    J Med Genet 2004;41:1 31-34 doi:10.1136/jmg.2003.014977

  • Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2

    • M Venturin,
    • P Guarnieri,
    • F Natacci,
    • M Stabile,
    • R Tenconi,
    • M Clementi,
    • C Hernandez,
    • P Thompson,
    • M Upadhyaya,
    • L Larizza,
    • P Riva
    J Med Genet 2004;41:1 35-41 doi:10.1136/jmg.2003.014761

  • A locus on 15q15-15qter influences dyslexia: further support from a transmission/disequilibrium study in an Italian speaking population

    • C Marino,
    • R Giorda,
    • L Vanzin,
    • M Nobile,
    • M L Lorusso,
    • C Baschirotto,
    • L Riva,
    • M Molteni,
    • M Battaglia
    J Med Genet 2004;41:1 42-46 doi:10.1136/jmg.2003.010603

  • Congo red, doxycycline, and HSP70 overexpression reduce aggregate formation and cell death in cell models of oculopharyngeal muscular dystrophy

    • Y P Bao,
    • S Sarkar,
    • E Uyama,
    • D C Rubinsztein
    J Med Genet 2004;41:1 47-51 doi:10.1136/jmg.2003.014548

  • Missense mutations in the β strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia

    • G C Jackson,
    • F S Barker,
    • E Jakkula,
    • M Czarny-Ratajczak,
    • O Mäkitie,
    • W G Cole,
    • M J Wright,
    • S F Smithson,
    • M Suri,
    • P Rogala,
    • G R Mortier,
    • C Baldock,
    • A Wallace,
    • R Elles,
    • L Ala-Kokko,
    • M D Briggs
    J Med Genet 2004;41:1 52-59 doi:10.1136/jmg.2003.011429

  • Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly

    • R Richardson,
    • D Donnai,
    • F Meire,
    • M J Dixon
    J Med Genet 2004;41:1 60-67 doi:10.1136/jmg.2003.012005

  • TBX22 mutations are a frequent cause of cleft palate

    • A C B Marçano,
    • K Doudney,
    • C Braybrook,
    • R Squires,
    • M A Patton,
    • M M Lees,
    • A Richieri-Costa,
    • A C Lidral,
    • J C Murray,
    • G E Moore,
    • P Stanier
    J Med Genet 2004;41:1 68-74 doi:10.1136/jmg.2003.010868

  • Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type

    • G Nishimura,
    • E Nakashima,
    • A Mabuchi,
    • K Shimamoto,
    • T Shimamoto,
    • Y Shimao,
    • T Nagai,
    • T Yamaguchi,
    • R Kosaki,
    • H Ohashi,
    • Y Makita,
    • S Ikegawa
    J Med Genet 2004;41:1 75-79 doi:10.1136/jmg.2003.013722

Corrections

  • CORRECTION

    J Med Genet 2004;41:1 20 doi:10.1136/jmg.2003.011791corr1

  • CORRECTION

    J Med Genet 2004;41:1 46 doi:10.1136/jmg.2003.008672corr1

  • CORRECTION

    J Med Genet 2004;41:1 51 doi:10.1136/jmg.2003.008276corr1

  • CORRECTION

    J Med Genet 2004;41:1 74 doi:10.1136/jmg.2003.009837corr1

Electronic pages

Book Review

  • Cancer cytogenetics: methods and protocols

    • L Willatt
    J Med Genet 2004;41:1 80 doi:10.1136/jmg.2003.013367

Book Review

  • Cleft lip and palate. From origin to treatment

    • J Murray
    J Med Genet 2004;41:1 80 doi:10.1136/jmg.2003.013359

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