These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

179 related articles for article (PubMed ID: 33983508)

  • 1. Missense variant in LOXHD1 is associated with canine nonsyndromic hearing loss.
    Hytönen MK; Niskanen JE; Arumilli M; Brookhart-Knox CA; Donner J; Lohi H
    Hum Genet; 2021 Nov; 140(11):1611-1618. PubMed ID: 33983508
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A CDH23 missense variant in Beauceron dogs with non-syndromic deafness.
    Abitbol M; Jagannathan V; Lopez M; Courtin A; Dufaure de Citres C; Gache V; Leeb T
    Anim Genet; 2023 Feb; 54(1):73-77. PubMed ID: 36308003
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Recessive LOXHD1 variants cause a prelingual down-sloping hearing loss: genotype-phenotype correlation and three additional children with novel variants.
    Yu S; Chen WX; Zhang YF; Chen C; Ni Y; Duan B; Wang H; Xu ZM
    Int J Pediatr Otorhinolaryngol; 2021 Jun; 145():110715. PubMed ID: 33892339
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Five Novel Mutations in LOXHD1 Gene Were Identified to Cause Autosomal Recessive Nonsyndromic Hearing Loss in Four Chinese Families.
    Bai X; Zhang C; Zhang F; Xiao Y; Jin Y; Wang H; Xu L
    Biomed Res Int; 2020; 2020():1685974. PubMed ID: 32149082
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese family.
    Shen N; Wang T; Li D; Liu A; Lu Y
    BMC Med Genet; 2019 Feb; 20(1):30. PubMed ID: 30760222
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical characteristics of a Japanese family with hearing loss accompanied by compound heterozygous mutations in LOXHD1.
    Minami SB; Mutai H; Namba K; Sakamoto H; Matsunaga T
    Auris Nasus Larynx; 2016 Dec; 43(6):609-13. PubMed ID: 26973026
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutations in LOXHD1 gene cause various types and severities of hearing loss.
    Mori K; Moteki H; Kobayashi Y; Azaiez H; Booth KT; Nishio SY; Sato H; Smith RJ; Usami S
    Ann Otol Rhinol Laryngol; 2015 May; 124 Suppl 1(1 0):135S-41S. PubMed ID: 25792669
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans.
    Grillet N; Schwander M; Hildebrand MS; Sczaniecka A; Kolatkar A; Velasco J; Webster JA; Kahrizi K; Najmabadi H; Kimberling WJ; Stephan D; Bahlo M; Wiltshire T; Tarantino LM; Kuhn P; Smith RJ; Müller U
    Am J Hum Genet; 2009 Sep; 85(3):328-37. PubMed ID: 19732867
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Chromosomal assignment of 20 candidate genes for canine congenital sensorineural deafness by FISH and RH mapping.
    Rak SG; Drögemüller C; Leeb T; Quignon P; André C; Scott A; Breen M; Distl O
    Cytogenet Genome Res; 2003; 101(2):130-5. PubMed ID: 14610353
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Canine deafness.
    Strain GM
    Vet Clin North Am Small Anim Pract; 2012 Nov; 42(6):1209-24. PubMed ID: 23122177
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A Missense Mutation in the
    Xu F; Shan S; Sommerlad S; Seddon JM; Brenig B
    Genes (Basel); 2021 Mar; 12(4):. PubMed ID: 33805165
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Congenital sensorineural deafness in dogs: a molecular genetic approach toward unravelling the responsible genes.
    Rak SG; Distl O
    Vet J; 2005 Mar; 169(2):188-96. PubMed ID: 15727910
    [TBL] [Abstract][Full Text] [Related]  

  • 13. PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss.
    Redfield SE; De-la-Torre P; Zamani M; Wang H; Khan H; Morris T; Shariati G; Karimi M; Kenna MA; Seo GH; Xu H; Lu W; Naz S; Galehdari H; Indzhykulian AA; Shearer AE; Vona B
    Hum Genet; 2024 Mar; 143(3):311-329. PubMed ID: 38459354
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene.
    Vona B; Lechno S; Hofrichter MA; Hopf S; Läig AK; Haaf T; Keilmann A; Zechner U; Bartsch O
    Ear Hear; 2016; 37(4):e238-46. PubMed ID: 26849169
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mutational Spectrum and Clinical Features of Patients with
    Maekawa K; Nishio SY; Abe S; Goto SI; Honkura Y; Iwasaki S; Kanda Y; Kobayashi Y; Oka SI; Okami M; Oshikawa C; Sakuma N; Sano H; Shirakura M; Uehara N; Usami SI
    Genes (Basel); 2019 Sep; 10(10):. PubMed ID: 31547530
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1, and investigation into the involvement of Fuchs corneal dystrophy.
    Wesdorp M; Schreur V; Beynon AJ; Oostrik J; van de Kamp JM; Elting MW; van den Boogaard MH; Feenstra I; Admiraal RJC; Kunst HPM; Hoyng CB; Kremer H; Yntema HG; Pennings RJE; Schraders M
    Clin Genet; 2018 Aug; 94(2):221-231. PubMed ID: 29676012
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Discovery of MYH14 as an important and unique deafness gene causing prelingually severe autosomal dominant nonsyndromic hearing loss.
    Kim BJ; Kim AR; Han JH; Lee C; Oh DY; Choi BY
    J Gene Med; 2017 Apr; 19(4):. PubMed ID: 28221712
    [TBL] [Abstract][Full Text] [Related]  

  • 18. PDZD7 and hearing loss: More than just a modifier.
    Booth KT; Azaiez H; Kahrizi K; Simpson AC; Tollefson WT; Sloan CM; Meyer NC; Babanejad M; Ardalani F; Arzhangi S; Schnieders MJ; Najmabadi H; Smith RJ
    Am J Med Genet A; 2015 Dec; 167A(12):2957-65. PubMed ID: 26416264
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Elucidation of repeat motifs R1- and R2-related TRIOBP variants in autosomal recessive nonsyndromic hearing loss DFNB28 among indigenous South African individuals.
    Kabahuma RI; Schubert WD; Labuschagne C; Yan D; Pepper MS; Liu XZ
    Mol Genet Genomic Med; 2022 Oct; 10(10):e2015. PubMed ID: 36029164
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Further contributions to the genetic aspect of congenital sensorineural deafness in Dalmatians.
    Muhle AC; Jaggy A; Stricker C; Steffen F; Dolf G; Busato A; Kornberg M; Mariscoli M; Srenk P; Gaillard C
    Vet J; 2002 May; 163(3):311-8. PubMed ID: 12090774
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.