BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

172 related articles for article (PubMed ID: 30029624)

  • 1. Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment.
    Schrauwen I; Chakchouk I; Acharya A; Liaqat K; Irfanullah ; ; Nickerson DA; Bamshad MJ; Shah K; Ahmad W; Leal SM
    BMC Med Genet; 2018 Jul; 19(1):122. PubMed ID: 30029624
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Digenic inheritance of deafness caused by 8J allele of myosin-VIIA and mutations in other Usher I genes.
    Zheng QY; Scarborough JD; Zheng Y; Yu H; Choi D; Gillespie PG
    Hum Mol Genet; 2012 Jun; 21(11):2588-98. PubMed ID: 22381527
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I.
    Jaijo T; Oshima A; Aller E; Carney C; Usami S; Millán JM; Kimberling WJ
    Mol Vis; 2012; 18():1719-26. PubMed ID: 22815625
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Heterozygous mutation of Ush1g/Sans in mice causes early-onset progressive hearing loss, which is recovered by reconstituting the strain-specific mutation in Cdh23.
    Miyasaka Y; Shitara H; Suzuki S; Yoshimoto S; Seki Y; Ohshiba Y; Okumura K; Taya C; Tokano H; Kitamura K; Takada T; Hibino H; Shiroishi T; Kominami R; Yonekawa H; Kikkawa Y
    Hum Mol Genet; 2016 May; 25(10):2045-2059. PubMed ID: 26936824
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes.
    Schultz JM; Bhatti R; Madeo AC; Turriff A; Muskett JA; Zalewski CK; King KA; Ahmed ZM; Riazuddin S; Ahmad N; Hussain Z; Qasim M; Kahn SN; Meltzer MR; Liu XZ; Munisamy M; Ghosh M; Rehm HL; Tsilou ET; Griffith AJ; Zein WM; Brewer CC; Riazuddin S; Friedman TB
    J Med Genet; 2011 Nov; 48(11):767-75. PubMed ID: 21940737
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans.
    Zheng QY; Yan D; Ouyang XM; Du LL; Yu H; Chang B; Johnson KR; Liu XZ
    Hum Mol Genet; 2005 Jan; 14(1):103-11. PubMed ID: 15537665
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Novel
    D'Esposito F; Randazzo V; Cennamo G; Centore N; Maltese PE; Malesci R; D'Andrea L; Bertelli M; Marciano E; de Crecchio G; Pioppo A; Magli A; Cordeiro MF
    Eur J Ophthalmol; 2021 Mar; 31(2):NP18-NP22. PubMed ID: 31566003
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.
    Le Quesne Stabej P; Saihan Z; Rangesh N; Steele-Stallard HB; Ambrose J; Coffey A; Emmerson J; Haralambous E; Hughes Y; Steel KP; Luxon LM; Webster AR; Bitner-Glindzicz M
    J Med Genet; 2012 Jan; 49(1):27-36. PubMed ID: 22135276
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.
    Ahmed ZM; Riazuddin S; Aye S; Ali RA; Venselaar H; Anwar S; Belyantseva PP; Qasim M; Riazuddin S; Friedman TB
    Hum Genet; 2008 Oct; 124(3):215-23. PubMed ID: 18719945
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Nonsyndromic hearing loss caused by USH1G mutations: widening the USH1G disease spectrum.
    Maria Oonk AM; van Huet RA; Leijendeckers JM; Oostrik J; Venselaar H; van Wijk E; Beynon A; Kunst HP; Hoyng CB; Kremer H; Schraders M; Pennings RJ
    Ear Hear; 2015; 36(2):205-11. PubMed ID: 25255398
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy.
    Liu YP; Bosch DG; Siemiatkowska AM; Rendtorff ND; Boonstra FN; Möller C; Tranebjærg L; Katsanis N; Cremers FP
    Ophthalmic Genet; 2017; 38(2):127-132. PubMed ID: 27029556
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study.
    Mutai H; Suzuki N; Shimizu A; Torii C; Namba K; Morimoto N; Kudoh J; Kaga K; Kosaki K; Matsunaga T
    Orphanet J Rare Dis; 2013 Oct; 8():172. PubMed ID: 24164807
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease.
    Reiners J; Nagel-Wolfrum K; Jürgens K; Märker T; Wolfrum U
    Exp Eye Res; 2006 Jul; 83(1):97-119. PubMed ID: 16545802
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Rare coding variants involving MYO7A and other genes encoding stereocilia link proteins in familial meniere disease.
    Roman-Naranjo P; Moleon MDC; Aran I; Escalera-Balsera A; Soto-Varela A; Bächinger D; Gomez-Fiñana M; Eckhard AH; Lopez-Escamez JA
    Hear Res; 2021 Sep; 409():108329. PubMed ID: 34391192
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The circling mutant Pcdh15roda is a new mouse model for hearing loss.
    Torres AA; Rzadzinska AK; Ribeiro AF; Silva DA; Guénet JL; Massironi SM; Godard AL
    Mutat Res; 2013; 751-752():29-35. PubMed ID: 24044941
    [TBL] [Abstract][Full Text] [Related]  

  • 16. De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.
    Smits JJ; Oostrik J; Beynon AJ; Kant SG; de Koning Gans PAM; Rotteveel LJC; Klein Wassink-Ruiter JS; Free RH; Maas SM; van de Kamp J; Merkus P; ; Koole W; Feenstra I; Admiraal RJC; Lanting CP; Schraders M; Yntema HG; Pennings RJE; Kremer H
    Hum Genet; 2019 Jan; 138(1):61-72. PubMed ID: 30535804
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.
    Roux AF; Faugère V; Le Guédard S; Pallares-Ruiz N; Vielle A; Chambert S; Marlin S; Hamel C; Gilbert B; Malcolm S; Claustres M;
    J Med Genet; 2006 Sep; 43(9):763-8. PubMed ID: 16679490
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.
    Doucette L; Merner ND; Cooke S; Ives E; Galutira D; Walsh V; Walsh T; MacLaren L; Cater T; Fernandez B; Green JS; Wilcox ER; Shotland LI; Li XC; Lee M; King MC; Young TL
    Eur J Hum Genet; 2009 May; 17(5):554-64. PubMed ID: 19107147
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Digenic inheritance in autosomal recessive non-syndromic hearing loss cases carrying GJB2 heterozygote mutations: assessment of GJB4, GJA1, and GJC3.
    Kooshavar D; Tabatabaiefar MA; Farrokhi E; Abolhasani M; Noori-Daloii MR; Hashemzadeh-Chaleshtori M
    Int J Pediatr Otorhinolaryngol; 2013 Feb; 77(2):189-93. PubMed ID: 23141803
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss.
    Nakashima M; Takano K; Osaka H; Aida N; Tsurusaki Y; Miyake N; Saitsu H; Matsumoto N
    J Hum Genet; 2014 Aug; 59(8):471-4. PubMed ID: 24965255
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.