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279 related items for PubMed ID: 38534090

  • 1. Autosomal recessive non-syndromic hearing loss genes in Pakistan during the previous three decades.
    Shadab M, Abbasi AA, Ejaz A, Ben-Mahmoud A, Gupta V, Kim HG, Vona B.
    J Cell Mol Med; 2024 Apr; 28(8):e18119. PubMed ID: 38534090
    [Abstract] [Full Text] [Related]

  • 2. Molecular genetic landscape of hereditary hearing loss in Pakistan.
    Naz S.
    Hum Genet; 2022 Apr; 141(3-4):633-648. PubMed ID: 34308486
    [Abstract] [Full Text] [Related]

  • 3. Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.
    Shafique S, Siddiqi S, Schraders M, Oostrik J, Ayub H, Bilal A, Ajmal M, Seco CZ, Strom TM, Mansoor A, Mazhar K, Shah ST, Hussain A, Azam M, Kremer H, Qamar R.
    PLoS One; 2014 Apr; 9(6):e100146. PubMed ID: 24949729
    [Abstract] [Full Text] [Related]

  • 4. Epidemiology, etiology, genetic variants in non- syndromic hearing loss in Iran: A systematic review and meta-analysis.
    Aliazami F, Gilani S, Farhud D, Naraghi M, Afshari M, Eslami M.
    Int J Pediatr Otorhinolaryngol; 2023 May; 168():111512. PubMed ID: 37086676
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  • 8. Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.
    Ahmed ZM, Li XC, Powell SD, Riazuddin S, Young TL, Ramzan K, Ahmad Z, Luscombe S, Dhillon K, MacLaren L, Ploplis B, Shotland LI, Ives E, Riazuddin S, Friedman TB, Morell RJ, Wilcox ER.
    BMC Med Genet; 2004 Sep 24; 5():24. PubMed ID: 15447792
    [Abstract] [Full Text] [Related]

  • 9. Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.
    Richard EM, Santos-Cortez RLP, Faridi R, Rehman AU, Lee K, Shahzad M, Acharya A, Khan AA, Imtiaz A, Chakchouk I, Takla C, Abbe I, Rafeeq M, Liaqat K, Chaudhry T, Bamshad MJ, Nickerson DA, University of Washington Center for Mendelian Genomics, Schrauwen I, Khan SN, Morell RJ, Zafar S, Ansar M, Ahmed ZM, Ahmad W, Riazuddin S, Friedman TB, Leal SM, Riazuddin S.
    Hum Mutat; 2019 Jan 24; 40(1):53-72. PubMed ID: 30303587
    [Abstract] [Full Text] [Related]

  • 10. Genetic analysis of TMPRSS3 gene in the Korean population with autosomal recessive nonsyndromic hearing loss.
    Lee J, Baek JI, Choi JY, Kim UK, Lee SH, Lee KY.
    Gene; 2013 Dec 15; 532(2):276-80. PubMed ID: 23958653
    [Abstract] [Full Text] [Related]

  • 11. A comprehensive introduction to the genetic basis of non-syndromic hearing loss in the Saudi Arabian population.
    Imtiaz F, Taibah K, Ramzan K, Bin-Khamis G, Kennedy S, Al-Mubarak B, Trabzuni D, Allam R, Al-Mostafa A, Sogaty S, Al-Shaikh AH, Bamukhayyar SS, Meyer BF, Al-Owain M.
    BMC Med Genet; 2011 Jul 04; 12():91. PubMed ID: 21726435
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  • 12. Mutations in OTOF, CLDN14 & SLC26A4 genes as major causes of hearing impairment in Dhadkai village, Jammu & Kashmir, India.
    Pandey N, Rashid T, Jalvi R, Sharma M, Rangasayee R, Andrabi KI, Anand A.
    Indian J Med Res; 2017 Oct 04; 146(4):489-497. PubMed ID: 29434063
    [Abstract] [Full Text] [Related]

  • 13. Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.
    Lee K, Khan S, Islam A, Ansar M, Andrade PB, Kim S, Santos-Cortez RL, Ahmad W, Leal SM.
    Clin Genet; 2012 Jul 04; 82(1):56-63. PubMed ID: 21534946
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  • 14. Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.
    Tropitzsch A, Schade-Mann T, Gamerdinger P, Dofek S, Schulte B, Schulze M, Battke F, Fehr S, Biskup S, Heyd A, Müller M, Löwenheim H, Vona B, Holderried M.
    Ear Hear; 2022 Jul 04; 43(3):1049-1066. PubMed ID: 34753855
    [Abstract] [Full Text] [Related]

  • 15. Global Distribution of Founder Variants Associated with Non-Syndromic Hearing Impairment.
    Aboagye ET, Adadey SM, Wonkam-Tingang E, Amenga-Etego L, Awandare GA, Wonkam A.
    Genes (Basel); 2023 Feb 03; 14(2):. PubMed ID: 36833326
    [Abstract] [Full Text] [Related]

  • 16. Delineation of Homozygous Variants Associated with Prelingual Sensorineural Hearing Loss in Pakistani Families.
    Noman M, Ishaq R, Bukhari SA, Ahmed ZM, Riazuddin S.
    Genes (Basel); 2019 Dec 10; 10(12):. PubMed ID: 31835641
    [Abstract] [Full Text] [Related]

  • 17. Hereditary deafness and phenotyping in humans.
    Bitner-Glindzicz M.
    Br Med Bull; 2002 Dec 10; 63():73-94. PubMed ID: 12324385
    [Abstract] [Full Text] [Related]

  • 18. Genotype-Phenotype Correlations in TMPRSS3 (DFNB10/DFNB8) with Emphasis on Natural History.
    Nisenbaum E, Yan D, Shearer AE, de Joya E, Thielhelm T, Russell N, Staecker H, Chen Z, Holt JR, Liu X.
    Audiol Neurootol; 2023 Dec 10; 28(6):407-419. PubMed ID: 37331337
    [Abstract] [Full Text] [Related]

  • 19. A novel pathogenic variant in the MARVELD2 gene causes autosomal recessive non-syndromic hearing loss in an Iranian family.
    Taghipour-Sheshdeh A, Nemati-Zargaran F, Zarepour N, Tahmasebi P, Saki N, Tabatabaiefar MA, Mohammadi-Asl J, Hashemzadeh-Chaleshtori M.
    Genomics; 2019 Jul 10; 111(4):840-848. PubMed ID: 29752989
    [Abstract] [Full Text] [Related]

  • 20. A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation.
    Chung J, Park SM, Chang SO, Chung T, Lee KY, Kim AR, Park JH, Kim V, Park WY, Oh SH, Kim D, Park WJ, Choi BY.
    J Mol Med (Berl); 2014 Jun 10; 92(6):651-63. PubMed ID: 24526180
    [Abstract] [Full Text] [Related]

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