BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

164 related articles for article (PubMed ID: 30740830)

  • 1. Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2.
    Macnamara EF; Koehler AE; D'Souza P; Estwick T; Lee P; Vezina G; ; Fauni H; Braddock SR; Torti E; Holt JM; Sharma P; Malicdan MCV; Tifft CJ
    Hum Mutat; 2019 May; 40(5):532-538. PubMed ID: 30740830
    [TBL] [Abstract][Full Text] [Related]  

  • 2. SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect.
    McNeill A; Iovino E; Mansard L; Vache C; Baux D; Bedoukian E; Cox H; Dean J; Goudie D; Kumar A; Newbury-Ecob R; Fallerini C; Renieri A; Lopergolo D; Mari F; Blanchet C; Willems M; Roux AF; Pippucci T; Delpire E
    Brain; 2020 Aug; 143(8):2380-2387. PubMed ID: 32658972
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Clinical characterization and further confirmation of the autosomal recessive SLC12A2 disease.
    Bilal Shamsi M; Saleh M; Almuntashri M; Alharby E; Samman M; Peake RWA; Al-Fadhli FM; Alasmari A; Faqeih EA; Almontashiri NAM
    J Hum Genet; 2021 Jul; 66(7):689-695. PubMed ID: 33500540
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairment.
    Adadey SM; Schrauwen I; Aboagye ET; Bharadwaj T; Esoh KK; Basit S; Acharya A; Nouel-Saied LM; Liaqat K; Wonkam-Tingang E; Mowla S; Awandare GA; Ahmad W; Leal SM; Wonkam A
    J Hum Genet; 2021 Dec; 66(12):1169-1175. PubMed ID: 34226616
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans.
    Mutai H; Wasano K; Momozawa Y; Kamatani Y; Miya F; Masuda S; Morimoto N; Nara K; Takahashi S; Tsunoda T; Homma K; Kubo M; Matsunaga T
    PLoS Genet; 2020 Apr; 16(4):e1008643. PubMed ID: 32294086
    [TBL] [Abstract][Full Text] [Related]  

  • 6. NKCC1: Newly Found as a Human Disease-Causing Ion Transporter.
    Koumangoye R; Bastarache L; Delpire E
    Function (Oxf); 2021; 2(1):zqaa028. PubMed ID: 33345190
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Dominant and recessive SLC12A2-syndrome.
    McNeill A; Aurora P; Rajput K; Nash R; Stals K; Robinson H; Wakeling E
    Am J Med Genet A; 2022 Mar; 188(3):996-999. PubMed ID: 34797034
    [No Abstract]   [Full Text] [Related]  

  • 8. PNPT1, MYO15A, PTPRQ, and SLC12A2-associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India.
    Vanniya S P; Chandru J; Jeffrey JM; Rabinowitz T; Brownstein Z; Krishnamoorthy M; Avraham KB; Cheng L; Shomron N; Srisailapathy CRS
    Ann Hum Genet; 2022 Jan; 86(1):1-13. PubMed ID: 34374074
    [TBL] [Abstract][Full Text] [Related]  

  • 9. NKCC1 in human diseases: is the
    Delpire E; Koumangoye R
    Am J Physiol Cell Physiol; 2023 Aug; 325(2):C385-C390. PubMed ID: 37399495
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Analysis of a cohort of children with sensory hearing loss using the SCALE systematic nomenclature.
    Sculerati N
    Laryngoscope; 2000 May; 110(5 Pt 1):787-98. PubMed ID: 10807358
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Gain-of-function missense variant in SLC12A2, encoding the bumetanide-sensitive NKCC1 cotransporter, identified in human schizophrenia.
    Merner ND; Mercado A; Khanna AR; Hodgkinson A; Bruat V; Awadalla P; Gamba G; Rouleau GA; Kahle KT
    J Psychiatr Res; 2016 Jun; 77():22-6. PubMed ID: 26955005
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Bimodal strategy for excellent audiological rehabilitation in a subject with a novel nonsense mutation of the SLC26A4 gene: A case report.
    Malesci R; Russo R; Monzillo C; Laria C; Corvino V; Auletta G; Iolascon A; Franzè A
    Int J Pediatr Otorhinolaryngol; 2020 Jul; 134():110018. PubMed ID: 32251972
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1.
    Young TL; Ives E; Lynch E; Person R; Snook S; MacLaren L; Cater T; Griffin A; Fernandez B; Lee MK; King MC
    Hum Mol Genet; 2001 Oct; 10(22):2509-14. PubMed ID: 11709538
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The Severity of Vestibular Dysfunction in Deafness as a Determinant of Comorbid Hyperactivity or Anxiety.
    Antoine MW; Vijayakumar S; McKeehan N; Jones SM; Hébert JM
    J Neurosci; 2017 May; 37(20):5144-5154. PubMed ID: 28438970
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Sensorineural hearing loss and Mondini dysplasia caused by a deletion at locus DFN3.
    Arellano B; Ramírez Camacho R; García Berrocal JR; Villamar M; del Castillo I; Moreno F
    Arch Otolaryngol Head Neck Surg; 2000 Sep; 126(9):1065-9. PubMed ID: 10979118
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Family history, clinical features, and molecular characterization of a patient with autosomal recessive non-syndromic hearing loss].
    Düzcan F; Wollnik B; Tepeli E; Ardiç FN; Uyguner O; Bağci H
    Kulak Burun Bogaz Ihtis Derg; 2003 Sep; 11(3):85-8. PubMed ID: 14699249
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Enhanced insulin secretion and improved glucose tolerance in mice with homozygous inactivation of the Na(+)K(+)2Cl(-) co-transporter 1.
    Alshahrani S; Di Fulvio M
    J Endocrinol; 2012 Oct; 215(1):59-70. PubMed ID: 22872759
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome-Expanding the phenotype.
    Nixon TRW; Alexander P; Richards A; McNinch A; Bearcroft PWP; Cobben J; Snead MP
    Am J Med Genet A; 2019 Aug; 179(8):1498-1506. PubMed ID: 31090205
    [TBL] [Abstract][Full Text] [Related]  

  • 19. SOX10 mutations mimic isolated hearing loss.
    Pingault V; Faubert E; Baral V; Gherbi S; Loundon N; Couloigner V; Denoyelle F; Noël-Pétroff N; Ducou Le Pointe H; Elmaleh-Bergès M; Bondurand N; Marlin S
    Clin Genet; 2015 Oct; 88(4):352-9. PubMed ID: 25256313
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Progressive hearing impairment with deletion in GJB2 gene despite normal newborn hearing screening].
    Prera N; Löhle E; Birkenhäger R
    Laryngorhinootologie; 2014 Apr; 93(4):244-8. PubMed ID: 24022696
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.