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Articles published in
J Med Genet
    September 2022
  1. ROMANELLI TAVARES VL, Guimaraes-Ramos SL, Zhou Y, Masotti C, et al
    New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements.
    J Med Genet. 2022;59:895-905.
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    August 2022
  2. CHEN YS, Cabrera E, Tucker BJ, Shin TJ, et al
    TMPRSS3 expression is limited in spiral ganglion neurons: implication for successful cochlear implantation.
    J Med Genet. 2022 Aug 12. pii: jmg-2022-108654. doi: 10.1136/jmg-2022-108654.
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  3. NABAIS SA MJ, Miller KA, McQuaid M, Koelling N, et al
    Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis.
    J Med Genet. 2022;59:776-780.
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    July 2022
  4. CATASUS N, Garcia B, Galvan-Femenia I, Plana A, et al
    Revisiting the UK Genetic Severity Score for NF2: a proposal for the addition of a functional genetic component.
    J Med Genet. 2022;59:678-686.
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    February 2022
  5. PINGAULT V, Zerad L, Bertani-Torres W, Bondurand N, et al
    SOX10: 20 years of phenotypic plurality and current understanding of its developmental function.
    J Med Genet. 2022;59:105-114.
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    January 2022
  6. HU K, Zatyka M, Astuti D, Beer N, et al
    WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome.
    J Med Genet. 2022;59:65-74.
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    October 2021
  7. TERANISHI Y, Miyawaki S, Hongo H, Dofuku S, et al
    Targeted deep sequencing of DNA from multiple tissue types improves the diagnostic rate and reveals a highly diverse phenotype of mosaic neurofibromatosis type 2.
    J Med Genet. 2021;58:701-711.
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    September 2021
  8. SONG P, Guan Y, Chen X, Wu C, et al
    Frameshift mutation of Timm8a1 gene in mouse leads to an abnormal mitochondrial structure in the brain, correlating with hearing and memory impairment.
    J Med Genet. 2021;58:619-627.
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    July 2021
  9. GAO X, Huang SS, Qiu SW, Su Y, et al
    Congenital sensorineural hearing loss as the initial presentation of PTPN11-associated Noonan syndrome with multiple lentigines or Noonan syndrome: clinical features and underlying mechanisms.
    J Med Genet. 2021;58:465-474.
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  10. FRANK DN, Giese APJ, Hafren L, Bootpetch TC, et al
    Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants.
    J Med Genet. 2021;58:442-452.
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    March 2021
  11. KIM BJ, Jeon HW, Jeon W, Han JH, et al
    Rising of LOXHD1 as a signature causative gene of down-sloping hearing loss in people in their teens and 20s.
    J Med Genet. 2021 Mar 22. pii: jmedgenet-2020-107594.
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  12. JI P, Chang J, Wei X, Song X, et al
    Genetic variants associated with expression of TCF19 contribute to the risk of head and neck cancer in Chinese population.
    J Med Genet. 2021 Mar 5. pii: jmedgenet-2020-107410.
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    January 2021
  13. DE LAAT P, Rodenburg RR, Roeleveld N, Koene S, et al
    Six-year prospective follow-up study in 151 carriers of the mitochondrial DNA 3243 A>G variant.
    J Med Genet. 2021;58:48-55.
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    April 2020
  14. BLANCHON S, Legendre M, Bottier M, Tamalet A, et al
    Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia.
    J Med Genet. 2020;57:237-244.
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    March 2020
  15. KNAPP KM, Sullivan R, Murray J, Gimenez G, et al
    Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome.
    J Med Genet. 2020;57:195-202.
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    February 2020
  16. LUSK L, Black E, Vengoechea J
    Segregation of two variants suggests the presence of autosomal dominant and recessive forms of WFS1-related disease within the same family: expanding the phenotypic spectrum of Wolfram Syndrome.
    J Med Genet. 2020;57:121-123.
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