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Select item 104511581.

X-Linked Gusher Disease DFNX2 in Children, a Rare Inner Ear Dysplasia with Mixed Hearing and Vestibular Loss

Soumit Dasgupta, James Hong, Rhyanna Morris, Javed Iqbal, Amy Lennox-Bowley, Jeyasakthy Saniasiaya

Audiol Res. 2023 Aug; 13(4): 600–614. Published online 2023 Aug 4. doi: 10.3390/audiolres13040052

PMCID:: PMC10451158

Article PDF–2.0M

Select item 61227422.

Clinical and molecular characterization of POU3F4 mutations in multiple DFNX2 Chinese families

Yu Su, Xue Gao, Sha-Sha Huang, Jing-Ning Mao, Bang-Qing Huang, Jian-Dong Zhao, Dong-Yang Kang, Xin Zhang, Pu Dai

BMC Med Genet. 2018; 19: 157. Published online 2018 Sep 4. doi: 10.1186/s12881-018-0630-9

PMCID:: PMC6122742

Article PDF–1.5M

Select item 46444273.

X-linked Deafness-2 (DFNX2) Phenotype Associated with a Paracentric Inversion Upstream of POU3F4

Gregory J. Anger, Susan Crocker, Kyle McKenzie, Kerry K. Brown, Cynthia C. Morton, Karen Harrison, Jennifer J. MacKenzie

Am J Audiol. Author manuscript; available in PMC 2015 Nov 14.

Published in final edited form as: Am J Audiol. 2014 Mar; 23(1): 1–6. doi: 10.1044/1059-0889(2013/13-0018)

PMCID:: PMC4644427

Article PDF–1.1M

Select item 41781224.

Deficiency of Transcription Factor Brn4 Disrupts Cochlear Gap Junction Plaques in a Model of DFN3 Non-Syndromic Deafness

Yoshinobu Kidokoro, Keiko Karasawa, Osamu Minowa, Yoshinobu Sugitani, Tetsuo Noda, Katsuhisa Ikeda, Kazusaku Kamiya

PLoS One. 2014; 9(9): e108216. Published online 2014 Sep 26. doi: 10.1371/journal.pone.0108216

PMCID:: PMC4178122

Article PDF–14M

Select item 16828655.

Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3)

I. Bach, H. G. Brunner, P. Beighton, R. H. A. Ruvalcaba, W. Reardon, M. E. Pembrey, S. D. van der Velde-Visser, G. A. P. Bruns, C. W. R. J. Cremers, F. P. M. Cremers, H.-H. Ropers

Am J Hum Genet. 1992 Jul; 51(1): 38–44.

PMCID:: PMC1682865

Summary Page Browse PDF–1.2M

Select item 102966206.

Clinical and Molecular Aspects Associated with Defects in the Transcription Factor POU3F4: A Review

Emanuele Bernardinelli, Florian Huber, Sebastian Roesch, Silvia Dossena

Biomedicines. 2023 Jun; 11(6): 1695. Published online 2023 Jun 12. doi: 10.3390/biomedicines11061695

PMCID:: PMC10296620

Article PDF–611K

Select item 99318257.

Morphology of the Bony Labyrinth Supports the Affinities of Paradolichopithecus with the Papionina

Anne Le Maître, Franck Guy, Gildas Merceron, Dimitris S. Kostopoulos

Int J Primatol. 2023; 44(1): 209–236. Published online 2022 Sep 20. doi: 10.1007/s10764-022-00329-4

PMCID:: PMC9931825

Article PDF–3.3M

Select item 98939068.

Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia–Alania

Nika Petrova, Inna Tebieva, Vitaly Kadyshev, Zalina Getoeva, Natalia Balinova, Andrey Marakhonov, Tatyana Vasilyeva, Evgeny Ginter, Sergey Kutsev, Rena Zinchenko

PeerJ. 2023; 11: e14514. Published online 2023 Jan 30. doi: 10.7717/peerj.14514

PMCID:: PMC9893906

Article PDF–1016K

Select item 95587129.

Novel POU3F4 variants identified in patients with inner ear malformations exhibit aberrant cellular distribution and lack of SLC6A20 transcriptional upregulation

Emanuele Bernardinelli, Sebastian Roesch, Edi Simoni, Angela Marino, Gerd Rasp, Laura Astolfi, Antonio Sarikas, Silvia Dossena

Front Mol Neurosci. 2022; 15: 999833. Published online 2022 Sep 29. doi: 10.3389/fnmol.2022.999833

PMCID:: PMC9558712

Article PDF–3.3M

Select item 886231110.

Genetic findings of Sanger and nanopore single-molecule sequencing in patients with X-linked hearing loss and incomplete partition type III

Ying Chen, Jiajun Qiu, Yingwei Wu, Huan Jia, Yi Jiang, Mengda Jiang, Zhili Wang, Hai-Bin Sheng, Lingxiang Hu, Zhihua Zhang, Zhaoyan Wang, Yun Li, Zhiwu Huang, Hao Wu

Orphanet J Rare Dis. 2022; 17: 65. Published online 2022 Feb 21. doi: 10.1186/s13023-022-02235-7

PMCID:: PMC8862311

Article PDF–1.3M

Select item 819364011.

Study of complex structural variations of X-linked deafness-2 based on single-molecule sequencing

Yi Jiang, Lihua Wu, Shasha Huang, Pidong Li, Bo Gao, Yongyi Yuan, Siwen Zhang, Guoliang Yu, Yong Gao, Hao Wu, Pu Dai

Biosci Rep. 2021 Jun 25; 41(6): BSR20203740. Published online 2021 Jun 10. doi: 10.1042/BSR20203740

PMCID:: PMC8193640

Article PDF–1.1M

Select item 814310412.

A New Pathogenic Variant in POU3F4 Causing Deafness Due to an Incomplete Partition of the Cochlea Paved the Way for Innovative Surgery

Ahmet M. Tekin, Marco Matulic, Wim Wuyts, Masoud Zoka Assadi, Griet Mertens, Vincent van Rompaey, Yongxin Li, Paul van de Heyning, Vedat Topsakal

Genes (Basel) 2021 May; 12(5): 613. Published online 2021 Apr 21. doi: 10.3390/genes12050613

PMCID:: PMC8143104

Article PDF–1.4M

Select item 734275213.

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

J.-A. Prat Matifoll, M. Wilson, R. Goetti, C. Birman, B. Bennett, E. Peadon, A. Prats-Uribe, K. Prelog

AJNR Am J Neuroradiol. 2020 Jun; 41(6): 1087–1093. doi: 10.3174/ajnr.A6541

PMCID:: PMC7342752

Article PDF–1.4M

Select item 731661614.

Pou3f4-Expressing Otic Mesenchyme Cells Promote Spiral Ganglion Neuron Survival in the Postnatal Mouse Cochlea

Paige M. Brooks, Kevin P. Rose, Meaghan L. Macrae, Katherine M. Rangoussis, Mansa Gurjar, Ronna Hertzano, Thomas M. Coate

J Comp Neurol. Author manuscript; available in PMC 2021 Aug 1.

Published in final edited form as: J Comp Neurol. 2020 Aug; 528(12): 1967–1985. Published online 2020 Feb 7. doi: 10.1002/cne.24867

PMCID:: PMC7316616

Article PDF–3.9M

Select item 677564215.

Deletion of and Novel Missense Mutation in POU3F4 in 2 Families Segregating X-Linked Nonsyndromic Deafness

Abram P. Vore, Eugene H. Chang, Jane E. Hoppe, Merlin G. Butler, Shawnia Forrester, Michael C. Schneider, Luke L. H. Smith, Daniel W. Burke, Colleen A. Campbell, Richard J. H. Smith

Arch Otolaryngol Head Neck Surg. Author manuscript; available in PMC 2019 Oct 3.

Published in final edited form as: Arch Otolaryngol Head Neck Surg. 2005 Dec; 131(12): 1057–1063. doi: 10.1001/archotol.131.12.1057

PMCID:: PMC6775642

Article PDF–1.2M

Select item 603085516.

X-Linked Sensorineural Hearing Loss: A Literature Review

Virginia Corvino, Pasqualina Apisa, Rita Malesci, Carla Laria, Gennaro Auletta, Annamaria Franzé

Curr Genomics. 2018 Aug; 19(5): 327–338. Published online 2018 Aug. doi: 10.2174/1389202919666171218163046

PMCID:: PMC6030855

Article PDF–517K

Select item 600257317.

A novel mutation in POU3F4 in a Chinese family with X-linked non-syndromic hearing loss

Bang-qing Huang, Jia-ling Zeng, Yong-yi Yuan, Pu Dai

J Otol. 2015 Jun; 10(2): 78–82. Published online 2015 Sep 30. doi: 10.1016/j.joto.2015.09.004

PMCID:: PMC6002573

Article PDF–795K

Select item 565900318.

HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report

Aram Yang, Jinsup Kim, Chang-Seok Ki, Sung Hwa Hong, Sung Yoon Cho, Dong-Kyu Jin

BMC Med Genet. 2017; 18: 121. Published online 2017 Oct 26. doi: 10.1186/s12881-017-0484-6

PMCID:: PMC5659003

Article PDF–661K

Select item 515281719.

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

Agnieszka Pollak, Urszula Lechowicz, Anna Kędra, Piotr Stawiński, Małgorzata Rydzanicz, Mariusz Furmanek, Małgorzata Brzozowska, Maciej Mrówka, Henryk Skarżyński, Piotr H. Skarżyński, Monika Ołdak, Rafał Płoski

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