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Items: 1 to 20 of 35

1.
SMARCA4 mutation causes human otosclerosis and a similar phenotype in mice
Max Drabkin, Matan M. Jean, Yael Noy, Daniel Halperin, Yuval Yogev, Ohad Wormser, Regina Proskorovsky-Ohayon, Vadim Dolgin, Noam Levaot, Vlad Brumfeld, Shira Ovadia, Mor Kishner, Udi Kazenell, Karen B. Avraham, Ilan Shelef, Ohad S. Birk
J Med Genet. Author manuscript; available in PMC 2024 Feb 16.
Published in final edited form as: J Med Genet. 2024 Jan 19; 61(2): 117–124. Published online 2024 Jan 19. doi: 10.1136/jmg-2023-109264
PMCID:
PMC10756932
AbstractArticlePDF–923K
2.
A novel variant in the ROR2 gene underlying brachydactyly type B: a case report
Jiaqi Shao, Yue Liu, Shuyang Zhao, Weisheng Sun, Jie Zhan, Lihua Cao
BMC Pediatr. 2022; 22: 528. Published online 2022 Sep 5. doi: 10.1186/s12887-022-03564-z
PMCID:
PMC9446770
AbstractArticlePDF–1.5M
3.
The risks of RELN polymorphisms and its expression in the development of otosclerosis
Saurabh Priyadarshi, Kirtal Hansdah, Neha Singh, Amal Bouzid, Chinmay Sundar Ray, Khirod Chandra Panda, Narayan Chandra Biswal, Ashim Desai, Jyotish Chandra Choudhury, Adel Tekari, Saber Masmoudi, Puppala Venkat Ramchander
PLoS One. 2022; 17(6): e0269558. Published online 2022 Jun 3. doi: 10.1371/journal.pone.0269558
PMCID:
PMC9165908
AbstractArticlePDF–2.8M
4.
Clinical observation and genetic analysis of a SYNS1 family caused by novel NOG gene mutation
Zhao Zhang, Yu Lu, Jing‐Yuan Cao, Li Wang, Lin‐Ke Li, Chao Wang, Xuan Ye, Yi‐Ming Ji, Lin‐Yi Tu, Yi Sun
Mol Genet Genomic Med. 2022 May; 10(5): e1933. Published online 2022 Mar 25. doi: 10.1002/mgg3.1933
PMCID:
PMC9034678
AbstractArticlePDF–2.3M
5.
Genetic heterogeneity and core clinical features of NOG-related-symphalangism spectrum disorder
Ryan J. Carlson, Alicia Quesnel, Dawson Wells, Zippora Brownstein, Dror Gilony, Suleyman Gulsuner, Kathleen A. Leppig, Karen B. Avraham, Mary-Claire King, Tom Walsh, Jay Rubinstein
Otol Neurotol. Author manuscript; available in PMC 2022 Sep 1.
Published in final edited form as: Otol Neurotol. 2021 Sep 1; 42(8): e1143–e1151. doi: 10.1097/MAO.0000000000003176
PMCID:
PMC8486042
AbstractArticlePDF–1.2M
6.
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
AbstractArticlePDF–1.1M
7.
X-Linked Stapes Gusher: CT Findings in One Patient
Gaurav Kumar, Mauricio Castillo, Craig A. Buchman
AJNR Am J Neuroradiol. 2003 Jun; 24(6): 1130–1132.
PMCID:
PMC8149040
AbstractArticlePDF–154K
8.
Genetic and clinical phenotypic analysis of familial stapes sclerosis caused by an NOG mutation
Rong Yu, Hongqun Jiang, Huihuang Liao, Wugen Luo
BMC Med Genomics. 2020; 13: 187. Published online 2020 Dec 11. doi: 10.1186/s12920-020-00843-5
PMCID:
PMC7733265
AbstractArticlePDF–1.4M
9.
Targeted Mutagenesis of the POU-Domain GeneBrn4/Pou3f4 Causes Developmental Defects in the Inner Ear
Deborah Phippard, Lihui Lu, Daniel Lee, James C. Saunders, E. Bryan Crenshaw, III
J Neurosci. 1999 Jul 15; 19(14): 5980–5989. doi: 10.1523/JNEUROSCI.19-14-05980.1999
PMCID:
PMC6783103
AbstractArticlePDF–1.7M
10.
Tarsal–carpal coalition syndrome: importance of early diagnosis
Gloria Tze Yan Lau, Gayatri Athalye-Jape, Natasha Amery
BMJ Case Rep. 2019; 12(6): e229391. Published online 2019 Jun 6. doi: 10.1136/bcr-2019-229391
PMCID:
PMC6557331
AbstractArticlePDF–1.9M
11.
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
AbstractArticlePDF–1.5M
12.
Requirement for Jagged1-Notch2 signaling in patterning the bones of the mouse and human middle ear
Camilla S. Teng, Hai-Yun Yen, Lindsey Barske, Bea Smith, Juan Llamas, Neil Segil, John Go, Pedro A. Sanchez-Lara, Robert E. Maxson, J. Gage Crump
Sci Rep. 2017; 7: 2497. Published online 2017 May 31. doi: 10.1038/s41598-017-02574-7
PMCID:
PMC5451394
AbstractArticlePDF–4.2M
13.
A New Subtype of Multiple Synostoses Syndrome Is Caused by a Mutation in GDF6 That Decreases Its Sensitivity to Noggin and Enhances Its Potency as a BMP Signal
Jian Wang, Tingting Yu, Zhigang Wang, Satoshi Ohte, Ru-en Yao, Zhaojing Zheng, Juan Geng, Haiqing Cai, Yihua Ge, Yuchan Li, Yunlan Xu, Qinghua Zhang, James F Gusella, Qihua Fu, Steven Pregizer, Vicki Rosen, Yiping Shen
J Bone Miner Res. Author manuscript; available in PMC 2017 Jan 26.
Published in final edited form as: J Bone Miner Res. 2016 Apr; 31(4): 882–889. Published online 2015 Dec 28. doi: 10.1002/jbmr.2761
PMCID:
PMC5268166
AbstractArticlePDF–762K
14.
Mutations and altered expression of SERPINF1 in patients with familial otosclerosis
Joanna L. Ziff, Michael Crompton, Harry R.F. Powell, Jeremy A. Lavy, Christopher P. Aldren, Karen P. Steel, Shakeel R. Saeed, Sally J. Dawson
Hum Mol Genet. 2016 Jun 15; 25(12): 2393–2403. Published online 2016 Apr 7. doi: 10.1093/hmg/ddw106
PMCID:
PMC5181625
AbstractArticlePDF–455K
15.
Ectopic Mineralization and Conductive Hearing Loss in Enpp1asj Mutant Mice, a New Model for Otitis Media and Tympanosclerosis
Cong Tian, Belinda S. Harris, Kenneth R. Johnson
PLoS One. 2016; 11(12): e0168159. Published online 2016 Dec 13. doi: 10.1371/journal.pone.0168159
PMCID:
PMC5154548
AbstractArticlePDF–3.6M
16.
Temporal Bone Histopathology in NOG-Symphalangism Spectrum Disorder
Alicia M. Quesnel, Joseph B. Nadol, Jr., G. Petur Nielsen, Hugh D. Curtin, Marci M. Lesperance
Otol Neurotol. Author manuscript; available in PMC 2016 Dec 1.
Published in final edited form as: Otol Neurotol. 2015 Dec; 36(10): 1651–1656. doi: 10.1097/MAO.0000000000000861
PMCID:
PMC4659774
AbstractArticlePDF–2.8M
17.
A 1.6-Mb Microdeletion in Chromosome 17q22 Leads to NOG-Related Symphalangism Spectrum Disorder without Intellectual Disability
Xiuhong Pang, Huajie Luo, Yongchuan Chai, Xiaowen Wang, Lianhua Sun, Longxia He, Penghui Chen, Hao Wu, Tao Yang
PLoS One. 2015; 10(3): e0120816. Published online 2015 Mar 27. doi: 10.1371/journal.pone.0120816
PMCID:
PMC4376726
AbstractArticlePDF–2.1M
18.
Pou3f4-Mediated Regulation of Ephrin-B2 Controls Temporal Bone Development in the Mouse
Steven Raft, Thomas M. Coate, Matthew W. Kelley, E. Bryan Crenshaw, III, Doris K. Wu
PLoS One. 2014; 9(10): e109043. Published online 2014 Oct 9. doi: 10.1371/journal.pone.0109043
PMCID:
PMC4192298
AbstractArticlePDF–3.2M
19.
CHD7 Deficiency in “Looper”, a New Mouse Model of CHARGE Syndrome, Results in Ossicle Malformation, Otosclerosis and Hearing Impairment
Jacqueline M. Ogier, Marina R. Carpinelli, Benedicta D. Arhatari, R. C. Andrew Symons, Benjamin T. Kile, Rachel A. Burt
PLoS One. 2014; 9(5): e97559. Published online 2014 May 19. doi: 10.1371/journal.pone.0097559
PMCID:
PMC4026240
AbstractArticlePDF–8.9M
20.
Mutations in the NOG gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis
S Usami, S Abe, S Nishio, Y Sakurai, H Kojima, T Tono, N Suzuki
Clin Genet. 2012 Dec; 82(6): 514–520. Published online 2012 Jan 30. doi: 10.1111/j.1399-0004.2011.01831.x
PMCID:
PMC3532604
AbstractArticlePDF–643K

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