276 related articles for article (PubMed ID: 24768815)
1. 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]
2. 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]
3. 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]
4. Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness.
Masmoudi S; Antonarakis SE; Schwede T; Ghorbel AM; Gratri M; Pappasavas MP; Drira M; Elgaied-Boulila A; Wattenhofer M; Rossier C; Scott HS; Ayadi H; Guipponi M
Hum Mutat; 2001 Aug; 18(2):101-8. PubMed ID: 11462234
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. Two novel mutations in ILDR1 gene cause autosomal recessive nonsyndromic hearing loss in consanguineous Iranian families.
Mehrjoo Z; Babanejad M; Kahrizi K; Najmabadi H
J Genet; 2015 Sep; 94(3):483-7. PubMed ID: 26440088
[No Abstract] [Full Text] [Related]
8. 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]
9. Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.
Kalay E; Li Y; Uzumcu A; Uyguner O; Collin RW; Caylan R; Ulubil-Emiroglu M; Kersten FF; Hafiz G; van Wijk E; Kayserili H; Rohmann E; Wagenstaller J; Hoefsloot LH; Strom TM; Nürnberg G; Baserer N; den Hollander AI; Cremers FP; Cremers CW; Becker C; Brunner HG; Nürnberg P; Karaguzel A; Basaran S; Kubisch C; Kremer H; Wollnik B
Hum Mutat; 2006 Jul; 27(7):633-9. PubMed ID: 16752389
[TBL] [Abstract][Full Text] [Related]
10. T313M PINK1 mutation in an extended highly consanguineous Saudi family with early-onset Parkinson disease.
Chishti MA; Bohlega S; Ahmed M; Loualich A; Carroll P; Sato C; St George-Hyslop P; Westaway D; Rogaeva E
Arch Neurol; 2006 Oct; 63(10):1483-5. PubMed ID: 17030667
[TBL] [Abstract][Full Text] [Related]
11. Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.
Bolz H; von Brederlow B; Ramírez A; Bryda EC; Kutsche K; Nothwang HG; Seeliger M; del C-Salcedó Cabrera M; Vila MC; Molina OP; Gal A; Kubisch C
Nat Genet; 2001 Jan; 27(1):108-12. PubMed ID: 11138009
[TBL] [Abstract][Full Text] [Related]
12. A novel missense mutation in the ESRRB gene causes DFNB35 hearing loss in a Tunisian family.
Ben Saïd M; Ayedi L; Mnejja M; Hakim B; Khalfallah A; Charfeddine I; Khifagi C; Turki K; Ayadi H; Benzina Z; Ghorbel A; Castillo ID; Masmoudi S; Aifa MH
Eur J Med Genet; 2011; 54(6):e535-41. PubMed ID: 21802533
[TBL] [Abstract][Full Text] [Related]
13. Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3.
Ahmed S; Jelani M; Alrayes N; Mohamoud HS; Almramhi MM; Anshasi W; Ahmed NA; Wang J; Nasir J; Al-Aama JY
J Neurol Sci; 2015; 353(1-2):149-54. PubMed ID: 25956234
[TBL] [Abstract][Full Text] [Related]
14. COL4A4-related nephropathy caused by a novel mutation in a large consanguineous Saudi family.
Ramzan K; Imtiaz F; Taibah K; Alnufiee S; Akhtar M; Al-Hazzaa SA; Al-Owain M
Int J Pediatr Otorhinolaryngol; 2014 Mar; 78(3):427-32. PubMed ID: 24398087
[TBL] [Abstract][Full Text] [Related]
15. A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23-q31.
Pulleyn LJ; Jackson AP; Roberts E; Carridice A; Muxworthy C; Houseman M; Al-Gazali LI; Lench NJ; Markham AF; Mueller RF
Eur J Hum Genet; 2000 Dec; 8(12):991-3. PubMed ID: 11175289
[TBL] [Abstract][Full Text] [Related]
16. Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population.
Ramzan K; Al-Owain M; Al-Numair NS; Afzal S; Al-Ageel S; Al-Amer S; Al-Baik L; Al-Otaibi GF; Hashem A; Al-Mashharawi E; Basit S; Al-Mazroea AH; Softah A; Sogaty S; Imtiaz F
Am J Med Genet B Neuropsychiatr Genet; 2020 Apr; 183(3):172-180. PubMed ID: 31854501
[TBL] [Abstract][Full Text] [Related]
17. Homozygosity mapping identifies a novel GIPC3 mutation causing congenital nonsyndromic hearing loss in a Saudi family.
Ramzan K; Al-Owain M; Allam R; Berhan A; Abuharb G; Taibah K; Imtiaz F
Gene; 2013 May; 521(1):195-9. PubMed ID: 23510777
[TBL] [Abstract][Full Text] [Related]
18. [Family history, clinical features, and molecular characterization of a patient with autosomal recessive non-syndromic hearing loss].
Düzcan F; Wollnik B; Tepeli E; Ardiç FN; Uyguner O; Bağci H
Kulak Burun Bogaz Ihtis Derg; 2003 Sep; 11(3):85-8. PubMed ID: 14699249
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34.
Mustapha M; Chouery E; Chardenoux S; Naboulsi M; Paronnaud J; Lemainque A; Mégarbané A; Loiselet J; Weil D; Lathrop M; Petit C
Eur J Hum Genet; 2002 Mar; 10(3):210-2. PubMed ID: 11973626
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]