180 related articles for article (PubMed ID: 28945813)
1. Identification of a novel frameshift mutation in the ILDR1 gene in a UAE family, mutations review and phenotype genotype correlation.
Tlili A; Fahd Al Mutery A; Mahfood M; Kamal Eddine Ahmad Mohamed W; Bajou K
PLoS One; 2017; 12(9):e0185281. PubMed ID: 28945813
[TBL] [Abstract][Full Text] [Related]
2. ILDR1: Novel mutation and a rare cause of congenital deafness in the Saudi Arabian population.
Ramzan K; Taibah K; Tahir AI; Al-Tassan N; Berhan A; Khater AM; Al-Hazzaa SA; Al-Owain M; Imtiaz F
Eur J Med Genet; 2014; 57(6):253-8. PubMed ID: 24768815
[TBL] [Abstract][Full Text] [Related]
3. Clinical Exome Sequencing Identifies a Frameshift Mutation Within the STRC Gene in a United Arab Emirates Family with Profound Nonsyndromic Hearing Loss.
Mahfood M; Kamal Eddine Ahmad Mohamed W; Al Mutery A; Tlili A
Genet Test Mol Biomarkers; 2019 Mar; 23(3):204-208. PubMed ID: 30758234
[TBL] [Abstract][Full Text] [Related]
4. Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.
Borck G; Ur Rehman A; Lee K; Pogoda HM; Kakar N; von Ameln S; Grillet N; Hildebrand MS; Ahmed ZM; Nürnberg G; Ansar M; Basit S; Javed Q; Morell RJ; Nasreen N; Shearer AE; Ahmad A; Kahrizi K; Shaikh RS; Ali RA; Khan SN; Goebel I; Meyer NC; Kimberling WJ; Webster JA; Stephan DA; Schiller MR; Bahlo M; Najmabadi H; Gillespie PG; Nürnberg P; Wollnik B; Riazuddin S; Smith RJ; Ahmad W; Müller U; Hammerschmidt M; Friedman TB; Riazuddin S; Leal SM; Ahmad J; Kubisch C
Am J Hum Genet; 2011 Feb; 88(2):127-37. PubMed ID: 21255762
[TBL] [Abstract][Full Text] [Related]
5. Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.
Chakchouk I; Grati M; Bademci G; Bensaid M; Ma Q; Chakroun A; Foster J; Yan D; Duman D; Diaz-Horta O; Ghorbel A; Mittal R; Farooq A; Tekin M; Masmoudi S; Liu XZ
Mol Genet Genomics; 2015 Aug; 290(4):1327-34. PubMed ID: 25633957
[TBL] [Abstract][Full Text] [Related]
6. Whole-exome sequencing identifies a novel homozygous frameshift mutation in the PROM1 gene as a causative mutation in two patients with sporadic retinitis pigmentosa.
Liu S; Xie L; Yue J; Ma T; Peng C; Qiu B; Yang Z; Yang J
Int J Mol Med; 2016 Jun; 37(6):1528-34. PubMed ID: 27082927
[TBL] [Abstract][Full Text] [Related]
7. Next-generation sequencing identifies three novel missense variants in ILDR1 and MYO6 genes in an Iranian family with hearing loss with review of the literature.
Talebi F; Mardasi FG; Asl JM; Sayahi M
Int J Pediatr Otorhinolaryngol; 2017 Dec; 103():103-108. PubMed ID: 29224747
[TBL] [Abstract][Full Text] [Related]
8. Whole-exome sequencing reveals a novel frameshift mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in the Indian population.
Zhou Y; Saikia BB; Jiang Z; Zhu X; Liu Y; Huang L; Kim R; Yang Y; Qu C; Hao F; Gong B; Tai Z; Niu L; Yang Z; Sundaresan P; Zhu X
J Hum Genet; 2015 Oct; 60(10):625-30. PubMed ID: 26246154
[TBL] [Abstract][Full Text] [Related]
9. Identification of a novel compound heterozygous mutation in PTPRQ in a DFNB84 family with prelingual sensorineural hearing impairment.
Sang Q; Mei H; Kuermanhan A; Feng R; Guo L; Qu R; Xu Y; Li H; Jin L; He L; Wang L
Mol Genet Genomics; 2015 Jun; 290(3):1135-9. PubMed ID: 25557914
[TBL] [Abstract][Full Text] [Related]
10. Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome.
Haghighi A; Tiwari A; Piri N; Nürnberg G; Saleh-Gohari N; Haghighi A; Neidhardt J; Nürnberg P; Berger W
PLoS One; 2014; 9(11):e112747. PubMed ID: 25392994
[TBL] [Abstract][Full Text] [Related]
11. Exome sequencing identifies a novel frameshift mutation of MYO6 as the cause of autosomal dominant nonsyndromic hearing loss in a Chinese family.
Cheng J; Zhou X; Lu Y; Chen J; Han B; Zhu Y; Liu L; Choy KW; Han D; Sham PC; Zhang MQ; Zhang X; Yuan H
Ann Hum Genet; 2014 Nov; 78(6):410-23. PubMed ID: 25227905
[TBL] [Abstract][Full Text] [Related]
12. Identification of novel mutations by targeted exome sequencing and the genotype-phenotype assessment of patients with achromatopsia.
Li FF; Huang XF; Chen J; Yu XD; Zheng MQ; Lu F; Jin ZB; Gan DK
J Transl Med; 2015 Oct; 13():334. PubMed ID: 26493561
[TBL] [Abstract][Full Text] [Related]
13. Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders.
Domínguez-Ruiz M; García-Martínez A; Corral-Juan M; Pérez-Álvarez ÁI; Plasencia AM; Villamar M; Moreno-Pelayo MA; Matilla-Dueñas A; Menéndez-González M; Del Castillo I
J Transl Med; 2019 Aug; 17(1):290. PubMed ID: 31455392
[TBL] [Abstract][Full Text] [Related]
14. A novel homozygous PTH1R variant identified through whole-exome sequencing further expands the clinical spectrum of primary failure of tooth eruption in a consanguineous Saudi family.
Jelani M; Kang C; Mohamoud HS; Al-Rehaili R; Almramhi MM; Serafi R; Yang H; Al-Aama JY; Naeem M; Alkhiary YM
Arch Oral Biol; 2016 Jul; 67():28-33. PubMed ID: 27019138
[TBL] [Abstract][Full Text] [Related]
15. Downsloping high-frequency hearing loss due to inner ear tricellular tight junction disruption by a novel ILDR1 mutation in the Ig-like domain.
Kim NK; Higashi T; Lee KY; Kim AR; Kitajiri S; Kim MY; Chang MY; Kim V; Oh SH; Kim D; Furuse M; Park WY; Choi BY
PLoS One; 2015; 10(2):e0116931. PubMed ID: 25668204
[TBL] [Abstract][Full Text] [Related]
16. A novel frameshift mutation in KCNQ4 in a family with autosomal recessive non-syndromic hearing loss.
Wasano K; Mutai H; Obuchi C; Masuda S; Matsunaga T
Biochem Biophys Res Commun; 2015 Aug; 463(4):582-6. PubMed ID: 26036578
[TBL] [Abstract][Full Text] [Related]
17. A novel biallelic splice site mutation of TECTA causes moderate to severe hearing impairment in an Algerian family.
Behlouli A; Bonnet C; Abdi S; Hasbellaoui M; Boudjenah F; Hardelin JP; Louha M; Makrelouf M; Ammar-Khodja F; Zenati A; Petit C
Int J Pediatr Otorhinolaryngol; 2016 Aug; 87():28-33. PubMed ID: 27368438
[TBL] [Abstract][Full Text] [Related]
18. A novel mutation of EYA4 in a large Chinese family with autosomal dominant middle-frequency sensorineural hearing loss by targeted exome sequencing.
Sun Y; Zhang Z; Cheng J; Lu Y; Yang CL; Luo YY; Yang G; Yang H; Zhu L; Zhou J; Yao HQ
J Hum Genet; 2015 Jun; 60(6):299-304. PubMed ID: 25809937
[TBL] [Abstract][Full Text] [Related]
19. A Novel Homozygous SACS Mutation Identified by Whole-Exome Sequencing in a Consanguineous Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
Zeng H; Tang JG; Yang YF; Tan ZP; Tan JQ
Cytogenet Genome Res; 2017; 152(1):16-21. PubMed ID: 28658676
[TBL] [Abstract][Full Text] [Related]
20. A novel recessive truncating mutation in MYO15A causing prelingual sensorineural hearing loss.
Li W; Guo L; Li Y; Wu Q; Li Q; Li H; Dai C
Int J Pediatr Otorhinolaryngol; 2016 Feb; 81():92-5. PubMed ID: 26810297
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
