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Results: 1 to 20 of 104

Similar articles for PubMed (Select 19438930)

1.

Novel POU3F4 mutations and clinical features of DFN3 patients with cochlear implants.

Lee HK, Lee SH, Lee KY, Lim EJ, Choi SY, Park RK, Kim UK.

Clin Genet. 2009 Jun;75(6):572-5. doi: 10.1111/j.1399-0004.2009.01181.x. Epub 2009 May 5. No abstract available.

PMID:
19438930
2.

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 6;39(3):195-201. doi: 10.1152/physiolgenomics.00100.2009. Epub 2009 Aug 11.

3.

Cochlear implantation in children with congenital X-linked deafness due to novel mutations in POU3F4 gene.

Stankovic KM, Hennessey AM, Herrmann B, Mankarious LA.

Ann Otol Rhinol Laryngol. 2010 Dec;119(12):815-22.

PMID:
21250553
4.

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. doi: 10.1111/j.1399-0004.2010.01426.x.

PMID:
20412083
5.

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.

PMID:
16365218
6.

Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4.

de Kok YJ, van der Maarel SM, Bitner-Glindzicz M, Huber I, Monaco AP, Malcolm S, Pembrey ME, Ropers HH, Cremers FP.

Science. 1995 Feb 3;267(5198):685-8.

PMID:
7839145
7.

Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3.

Bitner-Glindzicz M, Turnpenny P, Höglund P, Kääriäinen H, Sankila EM, van der Maarel SM, de Kok YJ, Ropers HH, Cremers FP, Pembrey M, et al.

Hum Mol Genet. 1995 Aug;4(8):1467-9. No abstract available.

PMID:
7581392
8.

[Detection of POU3F4 gene mutations in the Chinese pedigree with Y-linked hereditary hearing impairment].

Wang QJ, Han DY, Yang WY.

Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2005 May;40(5):323-6. Chinese.

PMID:
16229168
9.

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. doi: 10.1097/MAO.0b013e318210b749.

PMID:
21555964
10.
11.

A new mutation in the POU3F4 gene in a Japanese family with X-linked mixed deafness (DFN3).

Hagiwara H, Tamagawa Y, Kitamura K, Kodera K.

Laryngoscope. 1998 Oct;108(10):1544-7.

PMID:
9778298
12.

Multiple enhancers located in a 1-Mb region upstream of POU3F4 promote expression during inner ear development and may be required for hearing.

Naranjo S, Voesenek K, de la Calle-Mustienes E, Robert-Moreno A, Kokotas H, Grigoriadou M, Economides J, Van Camp G, Hilgert N, Moreno F, Alsina B, Petersen MB, Kremer H, Gómez-Skarmeta JL.

Hum Genet. 2010 Oct;128(4):411-9. doi: 10.1007/s00439-010-0864-x. Epub 2010 Jul 29.

13.

Phenotype and genotype in females with POU3F4 mutations.

Marlin S, Moizard MP, David A, Chaissang N, Raynaud M, Jonard L, Feldmann D, Loundon N, Denoyelle F, Toutain A.

Clin Genet. 2009 Dec;76(6):558-63. doi: 10.1111/j.1399-0004.2009.01215.x.

PMID:
19930154
14.

Audiological and surgical evidence for the presence of a third window effect for the conductive hearing loss in DFNX2 deafness irrespective of types of mutations.

Choi BY, An YH, Park JH, Jang JH, Chung HC, Kim AR, Lee JH, Kim CS, Oh SH, Chang SO.

Eur Arch Otorhinolaryngol. 2013 Nov;270(12):3057-62. doi: 10.1007/s00405-013-2386-3. Epub 2013 Feb 12.

PMID:
23400403
15.

A duplication/paracentric inversion associated with familial X-linked deafness (DFN3) suggests the presence of a regulatory element more than 400 kb upstream of the POU3F4 gene.

de Kok YJ, Merkx GF, van der Maarel SM, Huber I, Malcolm S, Ropers HH, Cremers FP.

Hum Mol Genet. 1995 Nov;4(11):2145-50.

PMID:
8589693
16.

Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4.

de Kok YJ, Vossenaar ER, Cremers CW, Dahl N, Laporte J, Hu LJ, Lacombe D, Fischel-Ghodsian N, Friedman RA, Parnes LS, Thorpe P, Bitner-Glindzicz M, Pander HJ, Heilbronner H, Graveline J, den Dunnen JT, Brunner HG, Ropers HH, Cremers FP.

Hum Mol Genet. 1996 Sep;5(9):1229-35.

17.

Molecular analysis of the POU3F4 gene in patients with clinical and radiographic evidence of X-linked mixed deafness with perilymphatic gusher.

Friedman RA, Bykhovskaya Y, Tu G, Talbot JM, Wilson DF, Parnes LS, Fischel-Ghodsian N.

Ann Otol Rhinol Laryngol. 1997 Apr;106(4):320-5.

PMID:
9109724
18.

Cytoplasmic mislocalization of POU3F4 due to novel mutations leads to deafness in humans and mice.

Parzefall T, Shivatzki S, Lenz DR, Rathkolb B, Ushakov K, Karfunkel D, Shapira Y, Wolf M, Mohr M, Wolf E, Sabrautzki S, de Angelis MH, Frydman M, Brownstein Z, Avraham KB.

Hum Mutat. 2013 Aug;34(8):1102-10. doi: 10.1002/humu.22339. Epub 2013 May 8.

19.

[Clinical and molecular genetic analysis of monozygotic twins displaying stapes gusher syndrome (DFN3)].

Oh N, Kupka S, Mirghomizadeh F, Arold R, Zimmermann R, Blin N, Zenner HP, Pfister M.

HNO. 2003 Aug;51(8):629-33. Epub 2003 Apr 11. German.

PMID:
12942177
20.

Destabilization and mislocalization of POU3F4 by C-terminal frameshift truncation and extension mutation.

Choi BY, Kim DH, Chung T, Chang M, Kim EH, Kim AR, Seok J, Chang SO, Bok J, Kim D, Oh SH, Park WY.

Hum Mutat. 2013 Feb;34(2):309-16. doi: 10.1002/humu.22232. Epub 2012 Oct 17.

PMID:
23076972
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