143 related articles for article (PubMed ID: 17935254)
1. Molecular characterization of a novel X-linked syndrome involving developmental delay and deafness.
Hildebrand MS; de Silva MG; Tan TY; Rose E; Nishimura C; Tolmachova T; Hulett JM; White SM; Silver J; Bahlo M; Smith RJ; Dahl HH
Am J Med Genet A; 2007 Nov; 143A(21):2564-75. PubMed ID: 17935254
[TBL] [Abstract][Full Text] [Related]
2. Deletion of and novel missense mutation in POU3F4 in 2 families segregating X-linked nonsyndromic deafness.
Vore AP; Chang EH; Hoppe JE; Butler MG; Forrester S; Schneider MC; Smith LL; Burke DW; Campbell CA; Smith RJ
Arch Otolaryngol Head Neck Surg; 2005 Dec; 131(12):1057-63. PubMed ID: 16365218
[TBL] [Abstract][Full Text] [Related]
3. X-linked deafness-2 (DFNX2) phenotype associated with a paracentric inversion upstream of POU3F4.
Anger GJ; Crocker S; McKenzie K; Brown KK; Morton CC; Harrison K; MacKenzie JJ
Am J Audiol; 2014 Mar; 23(1):1-6. PubMed ID: 24096866
[TBL] [Abstract][Full Text] [Related]
4. Clinical and molecular characterization of POU3F4 mutations in multiple DFNX2 Chinese families.
Su Y; Gao X; Huang SS; Mao JN; Huang BQ; Zhao JD; Kang DY; Zhang X; Dai P
BMC Med Genet; 2018 Sep; 19(1):157. PubMed ID: 30176854
[TBL] [Abstract][Full Text] [Related]
5. Identification of a Novel Frameshift Variant of
Jang JH; Oh J; Han JH; Park HR; Kim BJ; Lee S; Kim MY; Lee S; Oh DY; Choung YH; Choi BY
Genet Test Mol Biomarkers; 2019 Jun; 23(6):423-427. PubMed ID: 31063410
[No Abstract] [Full Text] [Related]
6. Novel mutation in the homeobox domain of transcription factor POU3F4 associated with profound sensorineural hearing loss.
Schild C; Prera E; Lüblinghoff N; Arndt S; Aschendorff A; Birkenhäger R
Otol Neurotol; 2011 Jun; 32(4):690-4. PubMed ID: 21555964
[TBL] [Abstract][Full Text] [Related]
7. Clinical evaluation of DFN3 patients with deletions in the POU3F4 locus and detection of carrier female using MLPA.
Song MH; Lee HK; Choi JY; Kim S; Bok J; Kim UK
Clin Genet; 2010 Dec; 78(6):524-32. PubMed ID: 20412083
[TBL] [Abstract][Full Text] [Related]
8. A novel mutation of POU3F4 causes congenital profound sensorineural hearing loss in a large Chinese family.
Wang QJ; Li QZ; Rao SQ; Zhao YL; Yuan H; Yang WY; Han DY; Shen Y
Laryngoscope; 2006 Jun; 116(6):944-50. PubMed ID: 16735904
[TBL] [Abstract][Full Text] [Related]
9. A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.
Tranebjaerg L; Schwartz C; Eriksen H; Andreasson S; Ponjavic V; Dahl A; Stevenson RE; May M; Arena F; Barker D
J Med Genet; 1995 Apr; 32(4):257-63. PubMed ID: 7643352
[TBL] [Abstract][Full Text] [Related]
10. Clinical and molecular characterizations of novel POU3F4 mutations reveal that DFN3 is due to null function of POU3F4 protein.
Lee HK; Song MH; Kang M; Lee JT; Kong KA; Choi SJ; Lee KY; Venselaar H; Vriend G; Lee WS; Park HJ; Kwon TK; Bok J; Kim UK
Physiol Genomics; 2009 Nov; 39(3):195-201. PubMed ID: 19671658
[TBL] [Abstract][Full Text] [Related]
11. Characterisation and genetic mapping of a new X linked deafness syndrome.
Martin DM; Probst FJ; Camper SA; Petty EM
J Med Genet; 2000 Nov; 37(11):836-41. PubMed ID: 11073537
[TBL] [Abstract][Full Text] [Related]
12. Genetic identification and molecular modeling characterization of a novel POU3F4 variant in two Italian deaf brothers.
Giannantonio S; Agolini E; Scorpecci A; Anzivino R; Bellacchio E; Cocciadiferro D; Novelli A; Digilio MC; Marsella P
Int J Pediatr Otorhinolaryngol; 2020 Feb; 129():109790. PubMed ID: 31786483
[TBL] [Abstract][Full Text] [Related]
13. X-linked hearing loss: two gene mutation examples provide generalizable implications for clinical care.
Stanton SG; Griffin A; Stockley TL; Brown C; Young TL; Benteau T; Abdelfatah N
Am J Audiol; 2014 Jun; 23(2):190-200. PubMed ID: 24687041
[TBL] [Abstract][Full Text] [Related]
14. Molecular and clinical studies of X-linked deafness among Pakistani families.
Waryah AM; Ahmed ZM; Bhinder MA; Choo DI; Sisk RA; Shahzad M; Khan SN; Friedman TB; Riazuddin S; Riazuddin S
J Hum Genet; 2011 Jul; 56(7):534-40. PubMed ID: 21633365
[TBL] [Abstract][Full Text] [Related]
15. Functional characterization of a novel loss-of-function mutation of PRPS1 related to early-onset progressive nonsyndromic hearing loss in Koreans (DFNX1): Potential implications on future therapeutic intervention.
Kim SY; Kim AR; Kim NK; Lee C; Han JH; Kim MY; Jeon EH; Park WY; Mittal R; Yan D; Liu XZ; Choi BY
J Gene Med; 2016 Nov; 18(11-12):353-358. PubMed ID: 27886419
[TBL] [Abstract][Full Text] [Related]
16. Study of complex structural variations of X-linked deafness-2 based on single-molecule sequencing.
Jiang Y; Wu L; Huang S; Li P; Gao B; Yuan Y; Zhang S; Yu G; Gao Y; Wu H; Dai P
Biosci Rep; 2021 Jun; 41(6):. PubMed ID: 33860785
[TBL] [Abstract][Full Text] [Related]
17. Identification of a novel mutation in POU3F4 for prenatal diagnosis in a Chinese family with X-linked nonsyndromic hearing loss.
Li J; Cheng J; Lu Y; Lu Y; Chen A; Sun Y; Kang D; Zhang X; Dai P; Han D; Yuan H
J Genet Genomics; 2010 Dec; 37(12):787-93. PubMed ID: 21193157
[TBL] [Abstract][Full Text] [Related]
18. Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations.
Bademci G; Lasisi A; Yariz KO; Montenegro P; Menendez I; Vinueza R; Paredes R; Moreta G; Subasioglu A; Blanton S; Fitoz S; Incesulu A; Sennaroglu L; Tekin M
BMC Med Genet; 2015 Feb; 16():9. PubMed ID: 25928534
[TBL] [Abstract][Full Text] [Related]
19. Syndromic choroideremia: sublocalization of phenotypes associated with Martin-Probst deafness mental retardation syndrome.
Poloschek CM; Kloeckener-Gruissem B; Hansen LL; Bach M; Berger W
Invest Ophthalmol Vis Sci; 2008 Sep; 49(9):4096-104. PubMed ID: 18487380
[TBL] [Abstract][Full Text] [Related]
20. A novel pathogenic variant c.975G>A (p.Trp325*) in the POU3F4 gene in Yakut family (Eastern Siberia, Russia) with the X-linked deafness-2 (DFNX2).
Barashkov NA; Klarov LA; Teryutin FM; Solovyev AV; Pshennikova VG; Konnikova EE; Romanov GP; Tobokhov AV; Morozov IV; Bondar AA; Posukh OL; Dzhemileva LU; Tomsky MI; Khusnutdinova EK; Fedorova SA
Int J Pediatr Otorhinolaryngol; 2018 Jan; 104():94-97. PubMed ID: 29287890
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
