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Articles published in
J Med Genet
    March 2024
  1. SMITH CEL, Laugel-Haushalter V, Hany U, Best S, et al
    Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability.
    J Med Genet. 2024 Mar 8:jmg-2023-109728. doi: 10.1136/jmg-2023-109728.
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    January 2024
  2. YAN X, Wang J, Yang W, Li L, et al
    Molecular diagnosis, clinical evaluation and phenotypic spectrum of Townes-Brocks syndrome: insights from a large Chinese hearing loss cohort.
    J Med Genet. 2024 Jan 31:jmg-2023-109579. doi: 10.1136/jmg-2023-109579.
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    September 2023
  3. GUILHEM A, Dupuis-Girod S, Espitia O, Riviere S, et al
    Seven cases of hereditary haemorrhagic telangiectasia-like hepatic vascular abnormalities associated with EPHB4 pathogenic variants.
    J Med Genet. 2023;60:905-909.
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    July 2023

  4. Correction 2: A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct.
    J Med Genet. 2023 Jul 6:jmedgenet-2017-104721.
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    June 2023
  5. DRABKIN M, Jean MM, Noy Y, Halperin D, et al
    SMARCA4 mutation causes human otosclerosis and a similar phenotype in mice.
    J Med Genet. 2023 Jun 30:jmg-2023-109264. doi: 10.1136/jmg-2023-109264.
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  6. MOHAJERI A, Vaseghi-Shanjani M, Rosenfeld JA, Yang GX, et al
    Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.
    J Med Genet. 2023 Jun 14:jmg-2022-109127. doi: 10.1136/jmg-2022-109127.
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    May 2023
  7. VELDE HM, Homans NC, Goedegebure A, Lanting CP, et al
    Analysis of Rotterdam Study cohorts confirms a previously identified RIPOR2 in-frame deletion as a prevalent genetic factor in phenotypically variable adult-onset hearing loss (DFNA21) in the Netherlands.
    J Med Genet. 2023 May 10:jmg-2023-109146. doi: 10.1136/jmg-2023-109146.
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  8. JELSIG AM, Kjeldsen A, Christensen LL, Bertelsen B, et al
    Hereditary haemorrhagic telangiectasia in Danish patients with pathogenic variants in SMAD4: a nationwide study.
    J Med Genet. 2023;60:464-468.
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    December 2022
  9. TOOZE RS, Calpena E, Twigg SRF, D'Arco F, et al
    Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1 (sprouty homolog 1) function.
    J Med Genet. 2022 Dec 21:jmg-2022-108946. doi: 10.1136/jmg-2022-108946.
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    September 2022
  10. 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
  11. 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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  12. 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
  13. 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
  14. 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
  15. 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
  16. 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
  17. 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
  18. 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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  19. 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.
    >> Share


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