BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

269 related articles for article (PubMed ID: 22678063)

  • 1. Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness.
    Delmaghani S; Aghaie A; Michalski N; Bonnet C; Weil D; Petit C
    Hum Mol Genet; 2012 Sep; 21(17):3835-44. PubMed ID: 22678063
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C.
    Verpy E; Leibovici M; Zwaenepoel I; Liu XZ; Gal A; Salem N; Mansour A; Blanchard S; Kobayashi I; Keats BJ; Slim R; Petit C
    Nat Genet; 2000 Sep; 26(1):51-5. PubMed ID: 10973247
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness.
    Masmoudi S; Antonarakis SE; Schwede T; Ghorbel AM; Gratri M; Pappasavas MP; Drira M; Elgaied-Boulila A; Wattenhofer M; Rossier C; Scott HS; Ayadi H; Guipponi M
    Hum Mutat; 2001 Aug; 18(2):101-8. PubMed ID: 11462234
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous.
    Lynch ED; Lee MK; Morrow JE; Welcsh PL; León PE; King MC
    Science; 1997 Nov; 278(5341):1315-8. PubMed ID: 9360932
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness.
    Scott HS; Kudoh J; Wattenhofer M; Shibuya K; Berry A; Chrast R; Guipponi M; Wang J; Kawasaki K; Asakawa S; Minoshima S; Younus F; Mehdi SQ; Radhakrishna U; Papasavvas MP; Gehrig C; Rossier C; Korostishevsky M; Gal A; Shimizu N; Bonne-Tamir B; Antonarakis SE
    Nat Genet; 2001 Jan; 27(1):59-63. PubMed ID: 11137999
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Alport syndrome. Molecular genetic aspects.
    Hertz JM
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function.
    Kurima K; Peters LM; Yang Y; Riazuddin S; Ahmed ZM; Naz S; Arnaud D; Drury S; Mo J; Makishima T; Ghosh M; Menon PS; Deshmukh D; Oddoux C; Ostrer H; Khan S; Riazuddin S; Deininger PL; Hampton LL; Sullivan SL; Battey JF; Keats BJ; Wilcox ER; Friedman TB; Griffith AJ
    Nat Genet; 2002 Mar; 30(3):277-84. PubMed ID: 11850618
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.
    Bolz H; von Brederlow B; Ramírez A; Bryda EC; Kutsche K; Nothwang HG; Seeliger M; del C-Salcedó Cabrera M; Vila MC; Molina OP; Gal A; Kubisch C
    Nat Genet; 2001 Jan; 27(1):108-12. PubMed ID: 11138009
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutations in a plasma membrane Ca2+-ATPase gene cause deafness in deafwaddler mice.
    Street VA; McKee-Johnson JW; Fonseca RC; Tempel BL; Noben-Trauth K
    Nat Genet; 1998 Aug; 19(4):390-4. PubMed ID: 9697703
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.
    Peled A; Sarig O; Samuelov L; Bertolini M; Ziv L; Weissglas-Volkov D; Eskin-Schwartz M; Adase CA; Malchin N; Bochner R; Fainberg G; Goldberg I; Sugawara K; Baniel A; Tsuruta D; Luxenburg C; Adir N; Duverger O; Morasso M; Shalev S; Gallo RL; Shomron N; Paus R; Sprecher E
    PLoS Genet; 2016 Oct; 12(10):e1006369. PubMed ID: 27736875
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Aberrant transcript produced by a splice donor site deletion in the TECTA gene is associated with autosomal dominant deafness in a Brazilian family.
    Lezirovitz K; Batissoco AC; Lima FT; Auricchio MT; Nonose RW; dos Santos SR; Guilherme L; Oiticica J; Mingroni-Netto RC
    Gene; 2012 Dec; 511(2):280-4. PubMed ID: 22995349
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2.
    Liang Y; Wang A; Belyantseva IA; Anderson DW; Probst FJ; Barber TD; Miller W; Touchman JW; Jin L; Sullivan SL; Sellers JR; Camper SA; Lloyd RV; Kachar B; Friedman TB; Fridell RA
    Genomics; 1999 Nov; 61(3):243-58. PubMed ID: 10552926
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene.
    Weil D; Küssel P; Blanchard S; Lévy G; Levi-Acobas F; Drira M; Ayadi H; Petit C
    Nat Genet; 1997 Jun; 16(2):191-3. PubMed ID: 9171833
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mapping and characterization of a novel cochlear gene in human and in mouse: a positional candidate gene for a deafness disorder, DFNA9.
    Robertson NG; Skvorak AB; Yin Y; Weremowicz S; Johnson KR; Kovatch KA; Battey JF; Bieber FR; Morton CC
    Genomics; 1997 Dec; 46(3):345-54. PubMed ID: 9441737
    [TBL] [Abstract][Full Text] [Related]  

  • 15. DFNB40, a recessive form of sensorineural hearing loss, maps to chromosome 22q11.21-12.1.
    Delmaghani S; Aghaie A; Compain-Nouaille S; Ataie A; Lemainque A; Zeinali S; Lathrop M; Weil D; Petit C
    Eur J Hum Genet; 2003 Oct; 11(10):816-8. PubMed ID: 14512974
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness.
    Lezirovitz K; Pardono E; de Mello Auricchio MT; de Carvalho E Silva FL; Lopes JJ; Abreu-Silva RS; Romanos J; Batissoco AC; Mingroni-Netto RC
    Eur J Hum Genet; 2008 Jan; 16(1):89-96. PubMed ID: 17851452
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness.
    Delmaghani S; Aghaie A; Bouyacoub Y; El Hachmi H; Bonnet C; Riahi Z; Chardenoux S; Perfettini I; Hardelin JP; Houmeida A; Herbomel P; Petit C
    Am J Hum Genet; 2016 Jun; 98(6):1266-1270. PubMed ID: 27259055
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness.
    Yasunaga S; Grati M; Cohen-Salmon M; El-Amraoui A; Mustapha M; Salem N; El-Zir E; Loiselet J; Petit C
    Nat Genet; 1999 Apr; 21(4):363-9. PubMed ID: 10192385
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment.
    Schneider E; Märker T; Daser A; Frey-Mahn G; Beyer V; Farcas R; Schneider-Rätzke B; Kohlschmidt N; Grossmann B; Bauss K; Napiontek U; Keilmann A; Bartsch O; Zechner U; Wolfrum U; Haaf T
    Hum Mol Genet; 2009 Feb; 18(4):655-66. PubMed ID: 19028668
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing.
    Nal N; Ahmed ZM; Erkal E; Alper OM; Lüleci G; Dinç O; Waryah AM; Ain Q; Tasneem S; Husnain T; Chattaraj P; Riazuddin S; Boger E; Ghosh M; Kabra M; Riazuddin S; Morell RJ; Friedman TB
    Hum Mutat; 2007 Oct; 28(10):1014-9. PubMed ID: 17546645
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.