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Items: 1 to 20 of 89

1.

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
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.

PMID:
16365218
3.

Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss.

Pollak A, Lechowicz U, Kędra A, Stawiński P, Rydzanicz M, Furmanek M, Brzozowska M, Mrówka M, Skarżyński H, Skarżyński PH, Ołdak M, Płoski R.

PLoS One. 2016 Dec 12;11(12):e0166618. doi: 10.1371/journal.pone.0166618. eCollection 2016.

4.

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
5.

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
6.

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. doi: 10.1016/j.ijporl.2017.11.001. Epub 2017 Nov 6.

PMID:
29287890
7.

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).

8.

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
9.

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.

10.

Clinics in diagnostic imaging (111): X-linked congenital mixed deafness syndrome.

Chee NW, Suhailee S, Goh J.

Singapore Med J. 2006 Sep;47(9):822-4; quiz 825.

11.

De novo large genomic deletions involving POU3F4 in incomplete partition type III inner ear anomaly in East Asian populations and implications for genetic counseling.

Choi JW, Min B, Kim A, Koo JW, Kim CS, Park WY, Chung J, Kim V, Ryu YJ, Kim SH, Chang SO, Oh SH, Choi BY.

Otol Neurotol. 2015 Jan;36(1):184-90. doi: 10.1097/MAO.0000000000000343.

PMID:
24608376
12.

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
13.

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.

PMID:
19671658
14.

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.

PMID:
16735904
15.

Phenotype and genotype analysis of a Chinese family with prelingual X-linked hereditary hearing impairment.

Han B, Cheng J, Yang SZ, Cao JY, Shen WD, Ji F, Kang DY, Zhang X, Dai P, Yuan HJ.

Chin Med J (Engl). 2009 Apr 5;122(7):830-3.

PMID:
19493398
16.

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.

17.

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

19.

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
20.

Facial nerve stimulation following cochlear implantation for X-linked stapes gusher syndrome leading to identification of a novel POU3F4 mutation.

Wester JL, Merna C, Peng KA, Lewis R, Sepahdari AR, Ishiyama G, Hosokawa K, Kumakawa K, Ishiyama A.

Int J Pediatr Otorhinolaryngol. 2016 Dec;91:121-123. doi: 10.1016/j.ijporl.2016.10.003. Epub 2016 Oct 6.

PMID:
27863625

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