Home The Word Brain My Amedeo FAQ Privacy About   


2049 Chinese

The 20K Word Road to Mandarin Proficiency

By B. S. Kamps et al.


  Otorhinolaryngology

  Free Subscription


Articles published in J Med Genet

Retrieve available abstracts of 23 articles:
HTML format



Single Articles


    October 2024
  1. SMITH MJ, Perez-Becerril C, van der Meer M, Burghel GJ, et al
    Genetic findings in people with schwannomas who do not meet clinical diagnostic criteria for NF2-related schwannomatosis.
    J Med Genet. 2024;61:1011-1015.
    PubMed     Abstract available


    August 2024
  2. FORDE C, Smith MJ, Burghel GJ, Bowers N, et al
    NF2-related schwannomatosis and other schwannomatosis: an updated genetic and epidemiological study.
    J Med Genet. 2024;61:856-860.
    PubMed     Abstract available


    June 2024
  3. GOTO K, Koyanagi Y, Akiyama M, Murakami Y, et al
    Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseases.
    J Med Genet. 2024;61:613-620.
    PubMed     Abstract available


    May 2024
  4. THOMAS L, Cuisset L, Papon JF, Tamalet A, et al
    Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia.
    J Med Genet. 2024;61:595-604.
    PubMed     Abstract available


    March 2024
  5. 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.
    PubMed     Abstract available


    January 2024
  6. 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.
    PubMed     Abstract available


    September 2023
  7. 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.
    PubMed     Abstract available


    July 2023

  8. 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.
    PubMed    


    June 2023
  9. 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.
    PubMed     Abstract available


  10. 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.
    PubMed     Abstract available


    May 2023
  11. 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.
    PubMed     Abstract available


  12. 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.
    PubMed     Abstract available


    December 2022
  13. 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.
    PubMed     Abstract available


    September 2022
  14. 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.
    PubMed     Abstract available


    August 2022
  15. 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.
    PubMed     Abstract available


  16. 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.
    PubMed     Abstract available


    July 2022
  17. 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.
    PubMed     Abstract available


    February 2022
  18. 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.
    PubMed     Abstract available


    January 2022
  19. 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.
    PubMed     Abstract available


    October 2021
  20. 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.
    PubMed     Abstract available


    September 2021
  21. 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.
    PubMed     Abstract available


    July 2021
  22. 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.
    PubMed     Abstract available


  23. 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.
    PubMed     Abstract available


Thank you for your interest in scientific medicine.


AMEDEO Otorhinolaryngology is free of charge.