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JMG Online mutation reports

Displaying results 1-10 of 168

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  • Mutation report:

    A homozygous nonsense mutation (c.214C->A) in the biliverdin reductase alpha gene (BLVRA) results in accumulation of biliverdin during episodes of cholestasis

    • Nikolaj S Nytofte,
    • Maria A Serrano,
    • Maria J Monte,
    • Ester Gonzalez-Sanchez,
    • Zeynep Tumer,
    • Karin Ladefoged,
    • Oscar Briz,
    • Jose J G Marin
    J. Med. Genet.  2011;48:219-225  doi:10.1136/jmg.2009.074567
  • Mutation report:

    A homozygous nonsense mutation (c.214C->A) in the biliverdin reductase alpha gene (BLVRA) results in accumulation of biliverdin during episodes of cholestasis

    • Nikolaj S Nytofte,
    • Maria A Serrano,
    • Maria J Monte,
    • Ester Gonzalez-Sanchez,
    • Zeynep Tumer,
    • Karin Ladefoged,
    • Oscar Briz,
    • Jose J G Marin
    J. Med. Genet.  2011;  doi:10.1136/jmg.2009.074567
  • Mutation report:

    DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome

    • Ingrid Slade,
    • Chiara Bacchelli,
    • Helen Davies,
    • Anne Murray,
    • Fatemeh Abbaszadeh,
    • Sandra Hanks,
    • Rita Barfoot,
    • Amos Burke,
    • Julia Chisholm,
    • Martin Hewitt,
    • Helen Jenkinson,
    • Derek King,
    • Bruce Morland,
    • Barry Pizer,
    • Katrina Prescott,
    • Anand Saggar,
    • Lucy Side,
    • Heidi Traunecker,
    • Sucheta Vaidya,
    • Paul Ward,
    • P Andrew Futreal,
    • Gordan Vujanic,
    • Andrew G Nicholson,
    • Neil Sebire,
    • Clare Turnbull,
    • John R Priest,
    • Kathryn Pritchard-Jones,
    • Richard Houlston,
    • Charles Stiller,
    • Michael R Stratton,
    • Jenny Douglas,
    • Nazneen Rahman
    J. Med. Genet.  2011;  doi:10.1136/jmg.2010.083790
  • Mutation report:

    Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy

    • R Mineri,
    • M Rimoldi,
    • A B Burlina,
    • S Koskull,
    • C Perletti,
    • B Heese,
    • U von Döbeln,
    • P Mereghetti,
    • I Di Meo,
    • F Invernizzi,
    • M Zeviani,
    • G Uziel,
    • V Tiranti
    J. Med. Genet.  2008;45:473-478  doi:10.1136/jmg.2008.058271
  • Mutation report:

    Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness

    • K Nozu,
    • T Inagaki,
    • X J Fu,
    • Y Nozu,
    • H Kaito,
    • K Kanda,
    • T Sekine,
    • T Igarashi,
    • K Nakanishi,
    • N Yoshikawa,
    • K Iijima,
    • M Matsuo
    J. Med. Genet.  2008;45:182-186  doi:10.1136/jmg.2007.052944
  • Mutation reports:

    Diversity of the basic defect of homozygous CFTR mutation genotypes in humans

    • F Stanke,
    • M Ballmann,
    • I Bronsveld,
    • T Dörk,
    • S Gallati,
    • U Laabs,
    • N Derichs,
    • M Ritzka,
    • H-G Posselt,
    • H K Harms,
    • M Griese,
    • H Blau,
    • G Mastella,
    • J Bijman,
    • H Veeze,
    • B Tümmler
    J. Med. Genet.  2008;45:47-54  doi:10.1136/jmg.2007.053561
    Open Access Article
  • Mutation reports:

    Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations

    • H A L Tuppen,
    • F Fattori,
    • R Carrozzo,
    • M Zeviani,
    • S DiMauro,
    • S Seneca,
    • J E Martindale,
    • S E Olpin,
    • E P Treacy,
    • R McFarland,
    • F M Santorelli,
    • R W Taylor
    J. Med. Genet.  2008;45:55-61  doi:10.1136/jmg.2007.051185
  • Mutation report:

    Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification

    • A De Luca,
    • I Bottillo,
    • M C Dasdia,
    • A Morella,
    • V Lanari,
    • L Bernardini,
    • L Divona,
    • S Giustini,
    • L Sinibaldi,
    • A Novelli,
    • I Torrente,
    • A Schirinzi,
    • B Dallapiccola
    J. Med. Genet.  2007;44:800-808  doi:10.1136/jmg.2007.053785
    Open Access Article
  • Online mutation report:

    The T/G–13915 variant upstream of the lactase gene (LCT) is the founder allele of lactase persistence in an urban Saudi population

    • F Imtiaz,
    • E Savilahti,
    • A Sarnesto,
    • D Trabzuni,
    • K Al-Kahtani,
    • I Kagevi,
    • M S Rashed,
    • B F Meyer,
    • I Järvelä
    J. Med. Genet.  2007;44:89  doi:10.1136/jmg.2007.051631
  • Online mutation report:

    New PPARG mutation leads to lipodystrophy and loss of protein function that is partially restored by a synthetic ligand

    • Angelika Lüdtke,
    • Janine Buettner,
    • Hartmut H-J Schmidt,
    • Howard J Worman
    J. Med. Genet.  2007;44:88  doi:10.1136/jmg.2007.050567
Next Results »

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