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Select item 81936401.

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 68258432.

Whole‐exome sequencing identifies a donor splice‐site variant in SMPX that causes rare X‐linked congenital deafness

Yuan Lv, Jia Gu, Hao Qiu, Huan Li, Zhitao Zhang, Shaowei Yin, Yan Mao, Lingyin Kong, Bo Liang, Hongkun Jiang, Caixia Liu

Mol Genet Genomic Med. 2019 Nov; 7(11): e967. Published online 2019 Sep 3. doi: 10.1002/mgg3.967

PMCID:: PMC6825843

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Select item 67756423.

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 61734554.

Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases

Constantia Aristidou, Athina Theodosiou, Mads Bak, Mana M. Mehrjouy, Efthymia Constantinou, Angelos Alexandrou, Ioannis Papaevripidou, Violetta Christophidou-Anastasiadou, Nicos Skordis, Sophia Kitsiou-Tzeli, Niels Tommerup, Carolina Sismani

PLoS One. 2018; 13(10): e0205298. Published online 2018 Oct 5. doi: 10.1371/journal.pone.0205298

PMCID:: PMC6173455

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Select item 61227425.

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

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Select item 46444276.

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

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Select item 45931987.

A 5.8 Mb interstitial deletion on chromosome Xq21.1 in a boy with intellectual disability, cleft palate, hearing impairment and combined growth hormone deficiency

M. Giordano, C. Gertosio, S. Pagani, C. Meazza, I. Fusco, E. Bozzola, M. Bozzola

BMC Med Genet. 2015; 16: 74. Published online 2015 Sep 1. doi: 10.1186/s12881-015-0220-z

PMCID:: PMC4593198

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Select item 44582968.

Association of PRPS1 Mutations with Disease Phenotypes

Rahul Mittal, Kunal Patel, Jeenu Mittal, Brandon Chan, Denise Yan, M'hamed Grati, Xue Zhong Liu

Dis Markers. 2015; 2015: 127013. Published online 2015 May 24. doi: 10.1155/2015/127013

PMCID:: PMC4458296

Article PDF–587K

Select item 44222829.

Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations

Guney Bademci, Akeem O Lasisi, Kemal O Yariz, Paola Montenegro, Ibis Menendez, Rodrigo Vinueza, Rosario Paredes, Germania Moreta, Asli Subasioglu, Susan Blanton, Suat Fitoz, Armagan Incesulu, Levent Sennaroglu, Mustafa Tekin

BMC Med Genet. 2015; 16: 9. Published online 2015 Feb 25. doi: 10.1186/s12881-015-0149-2

PMCID:: PMC4422282

Article PDF–1.2M

Select item 314327010.

Molecular and Clinical Studies of X-linked Deafness Among Pakistani Families

Ali M. Waryah, Zubair M. Ahmed, Daniel I. Choo, Robert A. Sisk, Munir A. Binder, Mohsin Shahzad, Shaheen N. Khan, Thomas B. Friedman, Sheikh Riazuddin, Saima Riazuddin

J Hum Genet. Author manuscript; available in PMC 2012 Jan 1.

Published in final edited form as: J Hum Genet. 2011 Jul; 56(7): 534–540. Published online 2011 Jun 2. doi: 10.1038/jhg.2011.55

Correction in:: volume 56 on page 752

PMCID:: PMC3143270

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Select item 301314211.

Characterization of New Otic Enhancers of the Pou3f4 Gene Reveal Distinct Signaling Pathway Regulation and Spatio-Temporal Patterns

Àlex Robert-Moreno, Silvia Naranjo, Elisa de la Calle-Mustienes, José Luis Gómez-Skarmeta, Berta Alsina

PLoS One. 2010; 5(12): e15907. Published online 2010 Dec 31. doi: 10.1371/journal.pone.0015907

PMCID:: PMC3013142

Article PDF–6.1M

Select item 293933012.

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

Silvia Naranjo, Krysta Voesenek, Elisa de la Calle-Mustienes, Alex Robert-Moreno, Haris Kokotas, Maria Grigoriadou, John Economides, Guy Van Camp, Nele Hilgert, Felipe Moreno, Berta Alsina, Michael B. Petersen, Hannie Kremer, José Luis Gómez-Skarmeta

Hum Genet. 2010; 128(4): 411–419. Published online 2010 Jul 29. doi: 10.1007/s00439-010-0864-x

PMCID:: PMC2939330

Article PDF–701K

Select item 191828213.

A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2.

A. K. Lalwani, J. R. Brister, J. Fex, K. M. Grundfast, A. T. Pikus, B. Ploplis, T. San Agustin, H. Skarka, E. R. Wilcox

Am J Hum Genet. 1994 Oct; 55(4): 685–694.

PMCID:: PMC1918282

Summary Page Browse PDF–1.2M

Select item 173446114.

Characterisation and genetic mapping of a new X linked deafness syndrome

D. Martin, F. Probst, S. Camper, E. Petty

J Med Genet. 2000 Nov; 37(11): 836–841. doi: 10.1136/jmg.37.11.836

PMCID:: PMC1734461

Summary PDF–163K

Select item 168286515.

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.