1 |
Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3.
56
6
|
Bitner-Glindzicz M...Pembrey M
|
7581392 |
1995 |
2 |
Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4.
56
6
|
de Kok YJ...Cremers FP
|
7839145 |
1995 |
3 |
A multipedigree linkage study of X-linked deafness: linkage to Xq13-q21 and evidence for genetic heterogeneity.
56
6
|
Reardon W...Malcolm S
|
1783396 |
1991 |
4 |
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss.
6
|
Alford RL...Professional Practice and Guidelines Committee
|
24651602 |
2014 |
5 |
Destabilization and mislocalization of POU3F4 by C-terminal frameshift truncation and extension mutation.
6
|
Choi BY...Park WY
|
23076972 |
2013 |
6 |
Clinical evaluation of DFN3 patients with deletions in the POU3F4 locus and detection of carrier female using MLPA.
56
|
Song MH...Kim UK
|
20412083 |
2010 |
7 |
Novel POU3F4 mutations and clinical features of DFN3 patients with cochlear implants.
56
|
Lee HK...Kim UK
|
19438930 |
2009 |
8 |
Sex-linked deafness.
56
|
Petersen MB...Willems PJ
|
18005182 |
2008 |
9 |
Molecular characterization of a novel X-linked syndrome involving developmental delay and deafness.
56
|
Hildebrand MS...Dahl HH
|
17935254 |
2007 |
10 |
Altered cochlear fibrocytes in a mouse model of DFN3 nonsyndromic deafness.
56
|
Minowa O...Noda T
|
10464101 |
1999 |
11 |
Hereditary Hearing Loss and Deafness Overview
6
|
Shearer AE...Smith RJH
|
20301607 |
1999 |
12 |
The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases: identification of a somatic mosaicism for a POU3F4 missense mutation.
6
|
de Kok YJ...Cremers FP
|
9298820 |
1997 |
13 |
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.
56
|
de Kok YJ...Cremers FP
|
8589693 |
1995 |
14 |
X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletions.
56
|
Huber I...Brunner HG
|
7981685 |
1994 |
15 |
A family with X-linked deafness showing linkage to the proximal Xq region of the X chromosome.
56
|
Robinson D...Phelps P
|
1362559 |
1992 |
16 |
Physical fine mapping of genes underlying X-linked deafness and non fra (X)-X-linked mental retardation at Xq21.
56
|
Bach I...Cremers FP
|
1511979 |
1992 |
17 |
Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3).
56
|
Bach I...Cremers FP
|
1609803 |
1992 |
18 |
X-linked deafness, stapes gushers and a distinctive defect of the inner ear.
56
|
Phelps PD...Luxom L
|
1922747 |
1991 |
19 |
Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21.
56
|
Merry DE...Nussbaum RL
|
2491012 |
1989 |
20 |
The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK.
56
|
Brunner HG...Ropers HH
|
2904400 |
1988 |
21 |
X-linked mixed deafness with stapes fixation in a Mauritian kindred: linkage to Xq probe pDP34.
56
|
Wallis C...Goldblatt J
|
3243543 |
1988 |
22 |
Choroideremia, congenital deafness and mental retardation in a family with an X chromosomal deletion.
56
|
Rosenberg T...Schwartz M
|
3438052 |
1987 |
23 |
Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation.
56
|
Nussbaum RL...Ledbetter DH
|
3476958 |
1987 |
24 |
Audiologic features of the X-linked progressive mixed deafness syndrome with perilymphatic gusher during stapes gusher.
56
|
Cremers CW
|
4039896 |
1985 |
25 |
X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery.
56
|
Cremers CW...Pinckers AJ
|
3977755 |
1985 |
26 |
Clinical features of female heterozygotes in the X-linked mixed deafness syndrome (with perilymphatic gusher during stapes surgery).
56
|
Cremers CW...Huygen PL
|
6662621 |
1983 |
27 |
Choroideremia, obesity, and congenital deafness.
56
|
Ayazi S
|
7258279 |
1981 |
28 |
X-linked deafness in a South African kindred.
56
|
Thorpe P...Beighton P
|
4821674 |
1974 |
29 |
Sex-linked congenital deafness.
56
|
McRae KN...Lewis M
|
5822288 |
1969 |
30 |
Cerebrospinal fluid otorrhea and the congenitally fixed stapes.
56
|
Olson NR...Lehman RH
|
5642491 |
1968 |
31 |
Sex-linked recessive congenital deafness and the excess of males in profound childhood deafness.
56
|
Fraser GR
|
5865628 |
1965 |
32 |
Pou3f4-expressing otic mesenchyme cells promote spiral ganglion neuron survival in the postnatal mouse cochlea.
61
|
Brooks PM...Coate TM
|
31994726 |
2020 |
33 |
A Case Series of X-Linked Deafness-2 with Sensorineural Hearing Loss, Stapes Fixation, and Perilymphatic Gusher: MR Imaging and Clinical Features of Hypothalamic Malformations.
61
|
Prat Matifoll JA...Prelog K
|
32409310 |
2020 |
34 |
Genetic identification and molecular modeling characterization of a novel POU3F4 variant in two Italian deaf brothers.
61
|
Giannantonio S...Marsella P
|
31786483 |
2020 |
35 |
Identification of a Novel Frameshift Variant of POU3F4 and Genetic Counseling of Korean Incomplete Partition Type III Subjects Based on Detailed Genotypes.
61
|
Jang JH...Choi BY
|
31063410 |
2019 |
36 |
Clinical and molecular characterization of POU3F4 mutations in multiple DFNX2 Chinese families.
61
|
Su Y...Dai P
|
30176854 |
2018 |
37 |
X-Linked Sensorineural Hearing Loss: A Literature Review.
61
|
Corvino V...Franze A
|
30065609 |
2018 |
38 |
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).
61
|
Barashkov NA...Fedorova SA
|
29287890 |
2018 |
39 |
Facial nerve stimulation following cochlear implantation for X-linked stapes gusher syndrome leading to identification of a novel POU3F4 mutation.
61
|
Wester JL...Ishiyama A
|
27863625 |
2016 |
40 |
Clinical observations and molecular variables of patients with hearing loss and incomplete partition type III.
61
|
Choi BY...Park JH
|
26600195 |
2016 |
41 |
Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss.
61
|
Pollak A...Ploski R
|
27941975 |
2016 |
42 |
De novo large genomic deletions involving POU3F4 in incomplete partition type III inner ear anomaly in East Asian populations and implications for genetic counseling.
61
|
Choi JW...Choi BY
|
24608376 |
2015 |
43 |
X-linked hearing loss: two gene mutation examples provide generalizable implications for clinical care.
61
|
Stanton SG...Abdelfatah N
|
24687041 |
2014 |
44 |
X-linked deafness-2 (DFNX2) phenotype associated with a paracentric inversion upstream of POU3F4.
61
|
Anger GJ...MacKenzie JJ
|
24096866 |
2014 |
45 |
Pou3f4-mediated regulation of ephrin-b2 controls temporal bone development in the mouse.
61
|
Raft S...Wu DK
|
25299585 |
2014 |
46 |
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.
61
|
Choi BY...Chang SO
|
23400403 |
2013 |
47 |
Cytoplasmic mislocalization of POU3F4 due to novel mutations leads to deafness in humans and mice.
61
|
Parzefall T...Avraham KB
|
23606368 |
2013 |
48 |
Otic mesenchyme cells regulate spiral ganglion axon fasciculation through a Pou3f4/EphA4 signaling pathway.
61
|
Coate TM...Kelley MW
|
22243746 |
2012 |
49 |
Identification of a novel mutation in POU3F4 for prenatal diagnosis in a Chinese family with X-linked nonsyndromic hearing loss.
61
|
Li J...Yuan H
|
21193157 |
2010 |