BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

125 related articles for article (PubMed ID: 31645979)

  • 1. Rapid screening of copy number variations in
    Ito T; Kawashima Y; Fujikawa T; Honda K; Makabe A; Kitamura K; Tsutsumi T
    Hum Genome Var; 2019; 6():41. PubMed ID: 31645979
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization.
    Moteki H; Azaiez H; Sloan-Heggen CM; Booth K; Nishio SY; Wakui K; Yamaguchi T; Kolbe DL; Iwasa YI; Shearer AE; Fukushima Y; Smith RJ; Usami SI
    Ann Otol Rhinol Laryngol; 2016 Nov; 125(11):918-923. PubMed ID: 27469136
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Prevalence and Characteristics of STRC Gene Mutations (DFNB16): A Systematic Review and Meta-Analysis.
    Han S; Zhang D; Guo Y; Fu Z; Guan G
    Front Genet; 2021; 12():707845. PubMed ID: 34621290
    [No Abstract]   [Full Text] [Related]  

  • 4. Leveraging Unique Chromosomal Microarray Probes to Accurately Detect Copy Number at the Highly Homologous 15q15.3 Deafness-Infertility Syndrome Locus.
    Sack LM; Mertens L; Murphy E; Hutchinson L; Giersch ABS; Mason-Suares H
    Clin Chem; 2023 Jun; 69(6):583-594. PubMed ID: 37022747
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Frequency and clinical features of hearing loss caused by STRC deletions.
    Yokota Y; Moteki H; Nishio SY; Yamaguchi T; Wakui K; Kobayashi Y; Ohyama K; Miyazaki H; Matsuoka R; Abe S; Kumakawa K; Takahashi M; Sakaguchi H; Uehara N; Ishino T; Kosho T; Fukushima Y; Usami SI
    Sci Rep; 2019 Mar; 9(1):4408. PubMed ID: 30867468
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients.
    Nishio SY; Usami SI
    Sci Rep; 2022 Jan; 12(1):634. PubMed ID: 35022556
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The Next Generation of Population-Based DFNB16 Carrier Screening and Diagnosis: STRC Copy-Number Variant Analysis from Genome Sequencing Data.
    Xiang J; Peng J; Sun X; Lin Z; Li D; Ye H; Wang S; Bai Y; Wang X; Du P; Gao Y; Sun J; Pan S; Peng Z
    Clin Chem; 2023 Jul; 69(7):763-770. PubMed ID: 37207672
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Allele-Specific Droplet Digital PCR Combined with a Next-Generation Sequencing-Based Algorithm for Diagnostic Copy Number Analysis in Genes with High Homology: Proof of Concept Using Stereocilin.
    Amr SS; Murphy E; Duffy E; Niazi R; Balciuniene J; Luo M; Rehm HL; Abou Tayoun AN
    Clin Chem; 2018 Apr; 64(4):705-714. PubMed ID: 29339441
    [TBL] [Abstract][Full Text] [Related]  

  • 9. STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population.
    Marková SP; Brožková DŠ; Laššuthová P; Mészárosová A; Krůtová M; Neupauerová J; Rašková D; Trková M; Staněk D; Seeman P
    Genet Test Mol Biomarkers; 2018 Feb; 22(2):127-134. PubMed ID: 29425068
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment.
    Francey LJ; Conlin LK; Kadesch HE; Clark D; Berrodin D; Sun Y; Glessner J; Hakonarson H; Jalas C; Landau C; Spinner NB; Kenna M; Sagi M; Rehm HL; Krantz ID
    Am J Med Genet A; 2012 Feb; 158A(2):298-308. PubMed ID: 22147502
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Significant Mendelian genetic contribution to pediatric mild-to-moderate hearing loss and its comprehensive diagnostic approach.
    Kim BJ; Oh DY; Han JH; Oh J; Kim MY; Park HR; Seok J; Cho SD; Lee SY; Kim Y; Carandang M; Kwon IS; Lee S; Jang JH; Choung YH; Lee S; Lee H; Hwang SM; Choi BY
    Genet Med; 2020 Jun; 22(6):1119-1128. PubMed ID: 32203226
    [TBL] [Abstract][Full Text] [Related]  

  • 12. STRC Deletion is a Frequent Cause of Slight to Moderate Congenital Hearing Impairment in the Czech Republic.
    Plevova P; Paprskarova M; Tvrda P; Turska P; Slavkovsky R; Mrazkova E
    Otol Neurotol; 2017 Dec; 38(10):e393-e400. PubMed ID: 28984810
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical features of hearing loss caused by STRC gene deletions/mutations in Russian population.
    Markova TG; Alekseeva NN; Mironovich OL; Galeeva NM; Lalayants MR; Bliznetz EA; Chibisova SS; Polyakov AV; Tavartkiladze GA
    Int J Pediatr Otorhinolaryngol; 2020 Nov; 138():110247. PubMed ID: 32705992
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Evaluation of copy number variants for genetic hearing loss: a review of current approaches and recent findings.
    Abbasi W; French CE; Rockowitz S; Kenna MA; Eliot Shearer A
    Hum Genet; 2022 Apr; 141(3-4):387-400. PubMed ID: 34811589
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents.
    Knijnenburg J; Oberstein SA; Frei K; Lucas T; Gijsbers AC; Ruivenkamp CA; Tanke HJ; Szuhai K
    J Med Genet; 2009 Jun; 46(6):412-7. PubMed ID: 19246478
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Utility of droplet digital PCR and NGS-based CNV clinical assays in hearing loss diagnostics: current status and future prospects.
    Rentas S; Abou Tayoun A
    Expert Rev Mol Diagn; 2021 Feb; 21(2):213-221. PubMed ID: 33554673
    [No Abstract]   [Full Text] [Related]  

  • 17. Absolute quantification reveals the stable transmission of a high copy number variant linked to autoinflammatory disease.
    Olsson M; Kierczak M; Karlsson Å; Jabłońska J; Leegwater P; Koltookian M; Abadie J; De Citres CD; Thomas A; Hedhammar Å; Tintle L; Lindblad-Toh K; Meadows JR
    BMC Genomics; 2016 Apr; 17():299. PubMed ID: 27107962
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Novel Pathogenic Variants in the Gene Encoding Stereocilin (
    Domínguez-Ruiz M; Ruiz-Palmero L; Buonfiglio PI; García-Vaquero I; Gómez-Rosas E; Goñi M; Villamar M; Morín M; Moreno-Pelayo MA; Elgoyhen AB; Del Castillo FJ; Dalamón V; Del Castillo I
    Biomedicines; 2023 Oct; 11(11):. PubMed ID: 38001944
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Phenotypic Characterization of DFNB16-associated Hearing Loss.
    Back D; Shehata-Dieler W; Vona B; Hofrichter MAH; Schroeder J; Haaf T; Rahne T; Hagen R; Schraven SP
    Otol Neurotol; 2019 Jan; 40(1):e48-e55. PubMed ID: 30531641
    [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 7.