These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
145 related articles for article (PubMed ID: 33397372)
1. A splice-site variant (c.3289-1G>T) in OTOF underlies profound hearing loss in a Pakistani kindred. Ahmed A; Wang M; Khan R; Shah AA; Guo H; Malik S; Xia K; Hu Z BMC Med Genomics; 2021 Jan; 14(1):2. PubMed ID: 33397372 [TBL] [Abstract][Full Text] [Related]
2. Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families. Khan SY; Ali S; Naeem MA; Khan SN; Husnain T; Butt NH; Qazi ZA; Akram J; Riazuddin S; Ayyagari R; Hejtmancik JF; Riazuddin SA Mol Vis; 2015; 21():871-82. PubMed ID: 26321862 [TBL] [Abstract][Full Text] [Related]
3. Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families. Zhou Y; Tariq M; He S; Abdullah U; Zhang J; Baig SM BMC Med Genet; 2020 Jul; 21(1):151. PubMed ID: 32682410 [TBL] [Abstract][Full Text] [Related]
4. Novel Loss-of-Function Variants in Doll J; Kolb S; Schnapp L; Rad A; Rüschendorf F; Khan I; Adli A; Hasanzadeh A; Liedtke D; Knaup S; Hofrichter MA; Müller T; Dittrich M; Kong IK; Kim HG; Haaf T; Vona B Int J Mol Sci; 2020 Jan; 21(1):. PubMed ID: 31906439 [No Abstract] [Full Text] [Related]
5. A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani family. Siddiqi S; Ismail M; Oostrik J; Munawar S; Mansoor A; Kremer H; Qamar R; Schraders M J Hum Genet; 2014 Dec; 59(12):683-6. PubMed ID: 25296581 [TBL] [Abstract][Full Text] [Related]
6. 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(12):. PubMed ID: 31835641 [TBL] [Abstract][Full Text] [Related]
7. Splice-site mutations in the TRIC gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani families. Chishti MS; Bhatti A; Tamim S; Lee K; McDonald ML; Leal SM; Ahmad W J Hum Genet; 2008; 53(2):101-105. PubMed ID: 18084694 [TBL] [Abstract][Full Text] [Related]
8. Whole-exome sequencing identifies a donor splice-site variant in SMPX that causes rare X-linked congenital deafness. Lv Y; Gu J; Qiu H; Li H; Zhang Z; Yin S; Mao Y; Kong L; Liang B; Jiang H; Liu C Mol Genet Genomic Med; 2019 Nov; 7(11):e967. PubMed ID: 31478598 [TBL] [Abstract][Full Text] [Related]
9. Novel OTOF pathogenic variant segregating with non-syndromic hearing loss in a consanguineous family from tribal Rajouri in Jammu and Kashmir. Kuchay RAH; Mir YR; Zeng X; Hassan A; Namba K; Tekin M Int J Pediatr Otorhinolaryngol; 2020 Mar; 130():109831. PubMed ID: 31875531 [TBL] [Abstract][Full Text] [Related]
10. Identification of Hearing Loss-Associated Variants of Mahmood U; Bukhari SA; Ali M; Ahmed ZM; Riazuddin S Biomed Res Int; 2021; 2021():5584788. PubMed ID: 33997018 [TBL] [Abstract][Full Text] [Related]
11. Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families. Doll J; Vona B; Schnapp L; Rüschendorf F; Khan I; Khan S; Muhammad N; Alam Khan S; Nawaz H; Khan A; Ahmad N; Kolb SM; Kühlewein L; Labonne JDJ; Layman LC; Hofrichter MAH; Röder T; Dittrich M; Müller T; Graves TD; Kong IK; Nanda I; Kim HG; Haaf T Genes (Basel); 2020 Nov; 11(11):. PubMed ID: 33187236 [TBL] [Abstract][Full Text] [Related]
12. A Novel Akram R; Anwar H; Muzaffar H; Turchetti V; Lau T; Vona B; Makhdoom EUH; Iqbal J; Mahmood Baig S; Hussain G; Efthymiou S; Houlden H Genes (Basel); 2024 Sep; 15(9):. PubMed ID: 39336794 [No Abstract] [Full Text] [Related]
13. Exome sequencing revealed a novel splice site variant in the ALX1 gene underlying frontonasal dysplasia. Ullah A; Kalsoom UE; Umair M; John P; Ansar M; Basit S; Ahmad W Clin Genet; 2017 Mar; 91(3):494-498. PubMed ID: 27324866 [TBL] [Abstract][Full Text] [Related]
14. The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian family. Hofrichter MAH; Mojarad M; Doll J; Grimm C; Eslahi A; Hosseini NS; Rajati M; Müller T; Dittrich M; Maroofian R; Haaf T; Vona B BMC Med Genet; 2018 May; 19(1):81. PubMed ID: 29776397 [TBL] [Abstract][Full Text] [Related]
15. Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan. Choi BY; Ahmed ZM; Riazuddin S; Bhinder MA; Shahzad M; Husnain T; Riazuddin S; Griffith AJ; Friedman TB Clin Genet; 2009 Mar; 75(3):237-43. PubMed ID: 19250381 [TBL] [Abstract][Full Text] [Related]
16. 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; ; 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; 40(1):53-72. PubMed ID: 30303587 [TBL] [Abstract][Full Text] [Related]
17. Loss-of-function mutations in MYO15A and OTOF cause non-syndromic hearing loss in two Yemeni families. Asaad M; Mahfood M; Al Mutery A; Tlili A Hum Genomics; 2023 May; 17(1):42. PubMed ID: 37189200 [TBL] [Abstract][Full Text] [Related]
18. Old gene, new phenotype: splice-altering variants in Booth KT; Kahrizi K; Najmabadi H; Azaiez H; Smith RJ J Med Genet; 2018 Aug; 55(8):555-560. PubMed ID: 29703829 [TBL] [Abstract][Full Text] [Related]
19. Identification of homozygous mutations for hearing loss. Dianatpour M; Smith E; Hashemi SB; Farazifard MA; Nezafat N; Razban V; Mani A Gene; 2021 Apr; 778():145464. PubMed ID: 33524517 [TBL] [Abstract][Full Text] [Related]
20. Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction. Ebermann I; Walger M; Scholl HP; Charbel Issa P; Lüke C; Nürnberg G; Lang-Roth R; Becker C; Nürnberg P; Bolz HJ Hum Mutat; 2007 Jun; 28(6):571-7. PubMed ID: 17301963 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]