113 related articles for article (PubMed ID: 28501645)
1. Targeted sequencing identifies novel variants involved in autosomal recessive hereditary hearing loss in Qatari families.
Alkowari MK; Vozzi D; Bhagat S; Krishnamoorthy N; Morgan A; Hayder Y; Logendra B; Najjar N; Gandin I; Gasparini P; Badii R; Girotto G; Abdulhadi K
Mutat Res; 2017 Aug; 800-802():29-36. PubMed ID: 28501645
[TBL] [Abstract][Full Text] [Related]
2. DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System.
Sommen M; Schrauwen I; Vandeweyer G; Boeckx N; Corneveaux JJ; van den Ende J; Boudewyns A; De Leenheer E; Janssens S; Claes K; Verstreken M; Strenzke N; Predöhl F; Wuyts W; Mortier G; Bitner-Glindzicz M; Moser T; Coucke P; Huentelman MJ; Van Camp G
Hum Mutat; 2016 Aug; 37(8):812-9. PubMed ID: 27068579
[TBL] [Abstract][Full Text] [Related]
3. Hereditary hearing loss: a 96 gene targeted sequencing protocol reveals novel alleles in a series of Italian and Qatari patients.
Vozzi D; Morgan A; Vuckovic D; D'Eustacchio A; Abdulhadi K; Rubinato E; Badii R; Gasparini P; Girotto G
Gene; 2014 Jun; 542(2):209-16. PubMed ID: 24657061
[TBL] [Abstract][Full Text] [Related]
4. [Pseudodominants of two recessive connexin mutations in non-syndromic sensorineural hearing loss?].
Birkenhäger R; Zimmer AJ; Maier W; Schipper J
Laryngorhinootologie; 2006 Mar; 85(3):191-6. PubMed ID: 16547895
[TBL] [Abstract][Full Text] [Related]
5.
Tingang Wonkam E; Chimusa E; Noubiap JJ; Adadey SM; F Fokouo JV; Wonkam A
Genes (Basel); 2019 Oct; 10(11):. PubMed ID: 31731535
[TBL] [Abstract][Full Text] [Related]
6. Clinical Characteristics and In Vitro Analysis of
Oka SI; Day TF; Nishio SY; Moteki H; Miyagawa M; Morita S; Izumi S; Ikezono T; Abe S; Nakayama J; Hyogo M; Okamoto N; Uehara N; Oshikawa C; Kitajiri SI; Usami SI
Genes (Basel); 2020 Mar; 11(3):. PubMed ID: 32143290
[No Abstract] [Full Text] [Related]
7. Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss.
Zardadi S; Razmara E; Asgaritarghi G; Jafarinia E; Bitarafan F; Rayat S; Almadani N; Morovvati S; Garshasbi M
Mol Genet Genomic Med; 2020 Dec; 8(12):e1550. PubMed ID: 33205915
[TBL] [Abstract][Full Text] [Related]
8. Particular distribution of the GJB2/GJB6 gene mutations in Mexican population with hearing impairment.
Loeza-Becerra F; Rivera-Vega Mdel R; Martínez-Saucedo M; Gonzalez-Huerta LM; Urueta-Cuellar H; Berrruecos-Villalobos P; Cuevas-Covarrubias S
Int J Pediatr Otorhinolaryngol; 2014 Jul; 78(7):1057-60. PubMed ID: 24774219
[TBL] [Abstract][Full Text] [Related]
9. Exome Sequencing Identifies a Novel Nonsense Mutation of MYO6 as the Cause of Deafness in a Brazilian Family.
Sampaio-Silva J; Batissoco AC; Jesus-Santos R; Abath-Neto O; Scarpelli LC; Nishimura PY; Galindo LT; Bento RF; Oiticica J; Lezirovitz K
Ann Hum Genet; 2018 Jan; 82(1):23-34. PubMed ID: 29044474
[TBL] [Abstract][Full Text] [Related]
10. [Application of next generation sequencing and Sanger sequencing in a pedigree affected with hereditary non-syndromic deafness].
Ren S; Kong X; Shi H
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Dec; 35(6):864-867. PubMed ID: 30512165
[TBL] [Abstract][Full Text] [Related]
11. A Novel Cadherin 23 Variant for Hereditary Hearing Loss Reveals Additional Support for a DFNB12 Nonsyndromic Phenotype of CDH23.
Koohiyan M; Hashemzadeh-Chaleshtori M; Salehi M; Abtahi H; Noori-Daloii MR; Tabatabaiefar MA
Audiol Neurootol; 2020; 25(5):258-262. PubMed ID: 32485727
[TBL] [Abstract][Full Text] [Related]
12. Functional Characterization of the
Alkowari M; Espino-Guarch M; Daas S; Abdelrahman D; Hasan W; Krishnamoorthy N; Sathappan A; Sheehan P; Panhuys NV; The Qatar Genome Program Research Consortium ; Estivill X
Int J Mol Sci; 2022 Mar; 23(6):. PubMed ID: 35328790
[TBL] [Abstract][Full Text] [Related]
13. A novel frameshift mutation (c.405delC) in the GJB2 gene associated with autosomal recessive hearing loss in two Tunisian families.
Riahi Z; Chahed H; Jaafoura H; Zainine R; Messaoud O; Naili M; Nagara M; Hammami H; Laroussi N; Bouyacoub Y; Kefi R; Bonnet C; Besbes G; Abdelhak S
Int J Pediatr Otorhinolaryngol; 2013 Sep; 77(9):1485-8. PubMed ID: 23856379
[TBL] [Abstract][Full Text] [Related]
14. Nuclear and mitochondrial genes mutated in nonsyndromic impaired hearing.
Finsterer J; Fellinger J
Int J Pediatr Otorhinolaryngol; 2005 May; 69(5):621-47. PubMed ID: 15850684
[TBL] [Abstract][Full Text] [Related]
15. Spectrum of GJB2 (Cx26) gene mutations in Iranian Azeri patients with nonsyndromic autosomal recessive hearing loss.
Davarnia B; Babanejad M; Fattahi Z; Nikzat N; Bazazzadegan N; Pirzade A; Farajollahi R; Nishimura C; Jalalvand K; Arzhangi S; Kahrizi K; Smith RJ; Najmabadi H
Int J Pediatr Otorhinolaryngol; 2012 Feb; 76(2):268-71. PubMed ID: 22172221
[TBL] [Abstract][Full Text] [Related]
16. Targeted Mutation Analysis of the SLC26A4, MYO6, PJVK and CDH23 Genes in Iranian Patients with AR Nonsyndromic Hearing Loss.
Alimardani M; Hosseini SM; Khaniani MS; Haghi MR; Eslahi A; Farjami M; Chezgi J; Derakhshan SM; Mojarrad M
Fetal Pediatr Pathol; 2019 Apr; 38(2):93-102. PubMed ID: 30582396
[TBL] [Abstract][Full Text] [Related]
17. Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families.
Brownstein Z; Friedman LM; Shahin H; Oron-Karni V; Kol N; Abu Rayyan A; Parzefall T; Lev D; Shalev S; Frydman M; Davidov B; Shohat M; Rahile M; Lieberman S; Levy-Lahad E; Lee MK; Shomron N; King MC; Walsh T; Kanaan M; Avraham KB
Genome Biol; 2011 Sep; 12(9):R89. PubMed ID: 21917145
[TBL] [Abstract][Full Text] [Related]
18. The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.
Zazo Seco C; Wesdorp M; Feenstra I; Pfundt R; Hehir-Kwa JY; Lelieveld SH; Castelein S; Gilissen C; de Wijs IJ; Admiraal RJ; Pennings RJ; Kunst HP; van de Kamp JM; Tamminga S; Houweling AC; Plomp AS; Maas SM; de Koning Gans PA; Kant SG; de Geus CM; Frints SG; Vanhoutte EK; van Dooren MF; van den Boogaard MH; Scheffer H; Nelen M; Kremer H; Hoefsloot L; Schraders M; Yntema HG
Eur J Hum Genet; 2017 Feb; 25(3):308-314. PubMed ID: 28000701
[TBL] [Abstract][Full Text] [Related]
19. Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2.
Gravina LP; Foncuberta ME; Prieto ME; Garrido J; Barreiro C; Chertkoff L
Int J Pediatr Otorhinolaryngol; 2010 Mar; 74(3):250-4. PubMed ID: 20022641
[TBL] [Abstract][Full Text] [Related]
20. Segregation of a new mutation in SLC26A4 and p.E47X mutation in GJB2 within a consanguineous Tunisian family affected with Pendred syndrome.
Ben Said M; Dhouib H; BenZina Z; Ghorbel A; Moreno F; Masmoudi S; Ayadi H; Hmani-Aifa M
Int J Pediatr Otorhinolaryngol; 2012 Jun; 76(6):832-6. PubMed ID: 22429511
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]