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Items: 1 to 20 of 94

1.

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
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.

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
4.

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. doi: 10.1016/S1673-8527(09)60096-5.

PMID:
21193157
5.

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 25;16:9. doi: 10.1186/s12881-015-0149-2.

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. doi: 10.1097/MAO.0b013e318210b749.

PMID:
21555964
7.

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.

8.

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. doi: 10.1044/2014_AJA-13-0040.

PMID:
24687041
9.

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. doi: 10.1038/jhg.2011.55. Epub 2011 Jun 2. Erratum in: J Hum Genet. 2011 Oct;56(10):752. Binder, Munir A [corrected to Bhinder, Munir A].

10.

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 1;143A(21):2564-75.

PMID:
17935254
11.

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. doi: 10.1044/1059-0889(2013/13-0018).

12.

HRCT and MRI findings in X-linked non-syndromic deafness patients with a POU3F4 mutation.

Gong WX, Gong RZ, Zhao B.

Int J Pediatr Otorhinolaryngol. 2014 Oct;78(10):1756-62. doi: 10.1016/j.ijporl.2014.08.013. Epub 2014 Aug 17.

PMID:
25175280
13.

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
14.

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
15.

A POU3F4 Mutation Causes Nonsyndromic Hearing Loss in a Chinese X-linked Recessive Family.

Du W, Han MK, Wang DY, Han B, Zong L, Lan L, Yang J, Shen Q, Xie LY, Yu L, Guan J, Wang QJ.

Chin Med J (Engl). 2017 Jan 5;130(1):88-92. doi: 10.4103/0366-6999.196565.

16.

Pou3f4-mediated regulation of ephrin-b2 controls temporal bone development in the mouse.

Raft S, Coate TM, Kelley MW, Crenshaw EB 3rd, Wu DK.

PLoS One. 2014 Oct 9;9(10):e109043. doi: 10.1371/journal.pone.0109043. eCollection 2014.

17.
18.

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
19.

De novo mutation in X-linked hearing loss-associated POU3F4 in a sporadic case of congenital hearing loss.

Moteki H, Shearer AE, Izumi S, Kubota Y, Azaiez H, Booth KT, Sloan CM, Kolbe DL, Smith RJ, Usami S.

Ann Otol Rhinol Laryngol. 2015 May;124 Suppl 1:169S-76S. doi: 10.1177/0003489415575042. Epub 2015 Mar 19.

20.

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

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