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Articles published in J Med Genet

Retrieve available abstracts of 19 articles:
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Single Articles


    March 2021
  1. 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.
    PubMed     Abstract available


  2. 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.
    PubMed     Abstract available


    August 2020
  3. 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. 2020 Aug 20. pii: jmedgenet-2020-106925.
    PubMed     Abstract available


    July 2020
  4. 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. 2020 Jul 31. pii: jmedgenet-2020-106892.
    PubMed     Abstract available


  5. DE BRUIJN SE, Smits JJ, Liu C, Lanting CP, et al
    A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss.
    J Med Genet. 2020 Jul 6. pii: jmedgenet-2020-106863.
    PubMed     Abstract available


    June 2020
  6. SADLER KV, Bowers NL, Hartley C, Smith PT, et al
    Sporadic vestibular schwannoma: a molecular testing summary.
    J Med Genet. 2020 Jun 23. pii: jmedgenet-2020-107022.
    PubMed     Abstract available


    April 2020
  7. 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.
    PubMed     Abstract available


    March 2020
  8. 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.
    PubMed     Abstract available


    February 2020
  9. COMISKEY DF JR, He H, Liyanarachchi S, Sheikh MS, et al
    Variants in LRRC34 reveal distinct mechanisms for predisposition to papillary thyroid carcinoma.
    J Med Genet. 2020 Feb 12. pii: jmedgenet-2019-106554.
    PubMed     Abstract available


  10. NASSER H, Vera L, Elmaleh-Berges M, Steindl K, et al
    CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects.
    J Med Genet. 2020 Feb 3. pii: jmedgenet-2019-106474.
    PubMed     Abstract available


  11. 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.
    PubMed     Abstract available


    September 2019
  12. GALLEGO-MARTINEZ A, Requena T, Roman-Naranjo P, May P, et al
    Enrichment of damaging missense variants in genes related with axonal guidance signalling in sporadic Meniere's disease.
    J Med Genet. 2019 Sep 7. pii: jmedgenet-2019-106159.
    PubMed     Abstract available


    November 2018
  13. MUELLER N, Sassa T, Morales-Gonzalez S, Schneider J, et al
    De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy.
    J Med Genet. 2018 Nov 28. pii: jmedgenet-2018-105711.
    PubMed     Abstract available


    October 2018

  14. Correction: A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct.
    J Med Genet. 2018 Oct 4. pii: jmedgenet-2017-104721.
    PubMed    


    April 2018
  15. BOOTH KT, Kahrizi K, Najmabadi H, Azaiez H, et al
    Old gene, new phenotype: splice-altering variants in CEACAM16 cause recessive non-syndromic hearing impairment.
    J Med Genet. 2018 Apr 27. pii: jmedgenet-2018-105349.
    PubMed     Abstract available


    March 2018
  16. AHMED ZM, Jaworek TJ, Sarangdhar GN, Zheng L, et al
    Inframe deletion of human ESPN is associated with deafness, vestibulopathy and vision impairment.
    J Med Genet. 2018 Mar 23. pii: jmedgenet-2017-105221.
    PubMed     Abstract available


    February 2018
  17. GAO X, Yuan YY, Lin QF, Xu JC, et al
    Mutation of IFNLR1, an interferon lambda receptor 1, is associated with autosomal-dominant non-syndromic hearing loss.
    J Med Genet. 2018 Feb 16. pii: jmedgenet-2017-104954.
    PubMed     Abstract available


    June 2017
  18. BRUEL AL, Franco B, Duffourd Y, Thevenon J, et al
    Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
    J Med Genet. 2017;54:371-380.
    PubMed     Abstract available


    March 2017
  19. FU Q, Xu M, Chen X, Sheng X, et al
    CEP78 is mutated in a distinct type of Usher syndrome.
    J Med Genet. 2017;54:190-195.
    PubMed     Abstract available


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