BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

433 related articles for article (PubMed ID: 27068579)

  • 1. DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System.
    Sommen M; Schrauwen I; Vandeweyer G; Boeckx N; Corneveaux JJ; van den Ende J; Boudewyns A; De Leenheer E; Janssens S; Claes K; Verstreken M; Strenzke N; Predöhl F; Wuyts W; Mortier G; Bitner-Glindzicz M; Moser T; Coucke P; Huentelman MJ; Van Camp G
    Hum Mutat; 2016 Aug; 37(8):812-9. PubMed ID: 27068579
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss.
    Bademci G; Diaz-Horta O; Guo S; Duman D; Van Booven D; Foster J; Cengiz FB; Blanton S; Tekin M
    Genet Test Mol Biomarkers; 2014 Sep; 18(9):658-61. PubMed ID: 25062256
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.
    Zazo Seco C; Wesdorp M; Feenstra I; Pfundt R; Hehir-Kwa JY; Lelieveld SH; Castelein S; Gilissen C; de Wijs IJ; Admiraal RJ; Pennings RJ; Kunst HP; van de Kamp JM; Tamminga S; Houweling AC; Plomp AS; Maas SM; de Koning Gans PA; Kant SG; de Geus CM; Frints SG; Vanhoutte EK; van Dooren MF; van den Boogaard MH; Scheffer H; Nelen M; Kremer H; Hoefsloot L; Schraders M; Yntema HG
    Eur J Hum Genet; 2017 Feb; 25(3):308-314. PubMed ID: 28000701
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Spectrum and frequencies of non GJB2 gene mutations in Czech patients with early non-syndromic hearing loss detected by gene panel NGS and whole-exome sequencing.
    Safka Brozkova D; Poisson Marková S; Mészárosová AU; Jenčík J; Čejnová V; Čada Z; Laštůvková J; Rašková D; Seeman P
    Clin Genet; 2020 Dec; 98(6):548-554. PubMed ID: 32860223
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Targeted sequencing identifies novel variants involved in autosomal recessive hereditary hearing loss in Qatari families.
    Alkowari MK; Vozzi D; Bhagat S; Krishnamoorthy N; Morgan A; Hayder Y; Logendra B; Najjar N; Gandin I; Gasparini P; Badii R; Girotto G; Abdulhadi K
    Mutat Res; 2017 Aug; 800-802():29-36. PubMed ID: 28501645
    [TBL] [Abstract][Full Text] [Related]  

  • 6. DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics.
    Vona B; Hofrichter MA; Neuner C; Schröder J; Gehrig A; Hennermann JB; Kraus F; Shehata-Dieler W; Klopocki E; Nanda I; Haaf T
    Clin Genet; 2015; 87(1):49-55. PubMed ID: 26011646
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Spectrum of Genes for Non-
    Shatokhina O; Galeeva N; Stepanova A; Markova T; Lalayants M; Alekseeva N; Tavarkiladze G; Markova T; Bessonova L; Petukhova M; Guseva D; Anisimova I; Polyakov A; Ryzhkova O; Bliznetz E
    Int J Mol Sci; 2022 Dec; 23(24):. PubMed ID: 36555390
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Whole-exome sequencing identifies genetic variants of hearing loss in 113 Chinese families.
    Pan J; Ma S; Teng Y; Liang D; Li Z; Wu L
    Clin Chim Acta; 2022 Jul; 532():53-60. PubMed ID: 35640668
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss.
    Atik T; Onay H; Aykut A; Bademci G; Kirazli T; Tekin M; Ozkinay F
    PLoS One; 2015; 10(11):e0142154. PubMed ID: 26561413
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients.
    Cabanillas R; Diñeiro M; Cifuentes GA; Castillo D; Pruneda PC; Álvarez R; Sánchez-Durán N; Capín R; Plasencia A; Viejo-Díaz M; García-González N; Hernando I; Llorente JL; Repáraz-Andrade A; Torreira-Banzas C; Rosell J; Govea N; Gómez-Martínez JR; Núñez-Batalla F; Garrote JA; Mazón-Gutiérrez Á; Costales M; Isidoro-García M; García-Berrocal B; Ordóñez GR; Cadiñanos J
    BMC Med Genomics; 2018 Jul; 11(1):58. PubMed ID: 29986705
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Targeted next-generation sequencing in Uyghur families with non-syndromic sensorineural hearing loss.
    Chen Y; Wang Z; Wang Z; Chen D; Chai Y; Pang X; Sun L; Wang X; Yang T; Wu H
    PLoS One; 2015; 10(5):e0127879. PubMed ID: 26011067
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families.
    Woo HM; Park HJ; Baek JI; Park MH; Kim UK; Sagong B; Koo SK
    BMC Med Genet; 2013 Jul; 14():72. PubMed ID: 23865914
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Identification of novel variants in MYO15A, OTOF, and RDX with hearing loss by next-generation sequencing.
    Bai X; Nian S; Feng L; Ruan Q; Luo X; Wu M; Yan Z
    Mol Genet Genomic Med; 2019 Aug; 7(8):e808. PubMed ID: 31250571
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Sequence variants in genes causing nonsyndromic hearing loss in a Pakistani cohort.
    Khan A; Han S; Wang R; Ansar M; Ahmad W; Zhang X
    Mol Genet Genomic Med; 2019 Sep; 7(9):e917. PubMed ID: 31389194
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Diagnostic application of targeted resequencing for familial nonsyndromic hearing loss.
    Choi BY; Park G; Gim J; Kim AR; Kim BJ; Kim HS; Park JH; Park T; Oh SH; Han KH; Park WY
    PLoS One; 2013; 8(8):e68692. PubMed ID: 23990876
    [TBL] [Abstract][Full Text] [Related]  

  • 16. AUDIOME: a tiered exome sequencing-based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss.
    Guan Q; Balciuniene J; Cao K; Fan Z; Biswas S; Wilkens A; Gallo DJ; Bedoukian E; Tarpinian J; Jayaraman P; Sarmady M; Dulik M; Santani A; Spinner N; Abou Tayoun AN; Krantz ID; Conlin LK; Luo M
    Genet Med; 2018 Dec; 20(12):1600-1608. PubMed ID: 29595809
    [TBL] [Abstract][Full Text] [Related]  

  • 17. MYO15A splicing mutations in hearing loss: A review literature and report of a novel mutation.
    Motavaf M; Soveizi M; Maleki M; Mahdieh N
    Int J Pediatr Otorhinolaryngol; 2017 May; 96():35-38. PubMed ID: 28390610
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients.
    Baux D; Vaché C; Blanchet C; Willems M; Baudoin C; Moclyn M; Faugère V; Touraine R; Isidor B; Dupin-Deguine D; Nizon M; Vincent M; Mercier S; Calais C; García-García G; Azher Z; Lambert L; Perdomo-Trujillo Y; Giuliano F; Claustres M; Koenig M; Mondain M; Roux AF
    Sci Rep; 2017 Dec; 7(1):16783. PubMed ID: 29196752
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Moderate sensorineural hearing loss is typical for DFNB16 caused by various types of mutations affecting the STRC gene.
    Čada Z; Šafka Brožková D; Balatková Z; Plevová P; Rašková D; Laštůvková J; Černý R; Bandúrová V; Koucký V; Hrubá S; Komarc M; Jenčík J; Poisson Marková S; Plzák J; Kluh J; Seeman P
    Eur Arch Otorhinolaryngol; 2019 Dec; 276(12):3353-3358. PubMed ID: 31552524
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of
    Sugiyama K; Moteki H; Kitajiri SI; Kitano T; Nishio SY; Yamaguchi T; Wakui K; Abe S; Ozaki A; Motegi R; Matsui H; Teraoka M; Kobayashi Y; Kosho T; Usami SI
    Genes (Basel); 2019 Sep; 10(9):. PubMed ID: 31527525
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 22.