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Items: 14

1.
Dispersed DNA variants underlie hearing loss in South Florida’s minority population
LéShon Peart, Joanna Gonzalez, Dayna Morel Swols, Duygu Duman, Turcin Saridogan, Memoona Ramzan, Mohammad Faraz Zafeer, Xue Zhong Liu, Adrien A. Eshraghi, Michael E. Hoffer, Simon I. Angeli, Guney Bademci, Susan Blanton, Carson Smith, Fred F. Telischi, Mustafa Tekin
Hum Genomics. 2023; 17: 103. Published online 2023 Nov 24. doi: 10.1186/s40246-023-00556-7
PMCID:
PMC10668374
AbstractArticlePDF–1.3M
2.
Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients
Shin-ya Nishio, Shin-ichi Usami
Sci Rep. 2022; 12: 634. Published online 2022 Jan 12. doi: 10.1038/s41598-021-04688-5
PMCID:
PMC8755823
AbstractArticlePDF–1.2M
3.
Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss
Roxane Van Heurck, Maria Teresa Carminho-Rodrigues, Emmanuelle Ranza, Caterina Stafuzza, Lina Quteineh, Corinne Gehrig, Eva Hammar, Michel Guipponi, Marc Abramowicz, Pascal Senn, Nils Guinand, Helene Cao-Van, Ariane Paoloni-Giacobino
Genes (Basel) 2021 Aug; 12(8): 1277. Published online 2021 Aug 20. doi: 10.3390/genes12081277
PMCID:
PMC8391342
AbstractArticlePDF–1.2M
4.
Prenatal cytogenomic identification and molecular refinement of compound heterozygous STRC deletion breakpoints
Lisong Shi, Yan Bai, Yara Kharbutli, Andrea M. Oza, Sami S. Amr, Lisa Edelmann, Lakshmi Mehta, Stuart A. Scott
Mol Genet Genomic Med. 2019 Aug; 7(8): e806. Published online 2019 Jun 19. doi: 10.1002/mgg3.806
PMCID:
PMC6687617
AbstractArticlePDF–591K
5.
Frequency and clinical features of hearing loss caused by STRC deletions
Yoh Yokota, Hideaki Moteki, Shin-ya Nishio, Tomomi Yamaguchi, Keiko Wakui, Yumiko Kobayashi, Kenji Ohyama, Hiromitsu Miyazaki, Rina Matsuoka, Satoko Abe, Kozo Kumakawa, Masahiro Takahashi, Hirofumi Sakaguchi, Natsumi Uehara, Takashi Ishino, Tomoki Kosho, Yoshimitsu Fukushima, Shin-ichi Usami
Sci Rep. 2019; 9: 4408. Published online 2019 Mar 13. doi: 10.1038/s41598-019-40586-7
PMCID:
PMC6416315
AbstractArticlePDF–2.0M
6.
Stereocilin gene variants associated with episodic vertigo: expansion of the DFNB16 phenotype
Carina Frykholm, Joakim Klar, Tatjana Tomanovic, Adam Ameur, Niklas Dahl
Eur J Hum Genet. 2018 Dec; 26(12): 1871–1874. Published online 2018 Sep 24. doi: 10.1038/s41431-018-0256-6
PMCID:
PMC6244415
AbstractArticlePDF–729K
7.
Detection and confirmation of deafness-causing copy number variations in the STRC gene by massively parallel sequencing and comparative genomic hybridization
Hideaki Moteki, Hela Azaiez, Christina M Sloan-Heggen, Kevin Booth, Shin-ya Nishio, Keiko Wakui, Tomomi Yamaguchi, Diana L Kolbe, Yoh-ichiro Iwasa, A Eliot Shearer, Yoshimitsu Fukushima, Richard JH Smith, Shin-ichi Usami
Ann Otol Rhinol Laryngol. Author manuscript; available in PMC 2017 Aug 1.
Published in final edited form as: Ann Otol Rhinol Laryngol. 2016 Nov; 125(11): 918–923. Published online 2016 Jul 28. doi: 10.1177/0003489416661345
PMCID:
PMC5537730
AbstractArticlePDF–417K
8.
DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics
B Vona, MAH Hofrichter, C Neuner, J Schröder, A Gehrig, JB Hennermann, F Kraus, W Shehata-Dieler, E Klopocki, I Nanda, T Haaf
Clin Genet. 2015 Jan; 87(1): 49–55. Published online 2014 Jan 21. doi: 10.1111/cge.12332
PMCID:
PMC4302246
AbstractArticlePDF–1.5M
9.
Genome-wide SNP Genotyping Identifies the Stereocilin (STRC) Gene as a Major Contributor to Pediatric Bilateral Sensorineural Hearing Impairment
Lauren J Francey, Laura K Conlin, Hanna E Kadesch, Dinah Clark, Donna Berrodin, Yi Sun, Joe Glessner, Hakon Hakonarson, Chaim Jalas, Chaim Landau, Nancy B Spinner, Margaret Kenna, Michal Sagi, Heidi L Rehm, Ian D Krantz
Am J Med Genet A. Author manuscript; available in PMC 2013 Feb 1.
Published in final edited form as: Am J Med Genet A. 2012 Feb; 158A(2): 298–308. Published online 2011 Dec 6. doi: 10.1002/ajmg.a.34391
PMCID:
PMC3264741
AbstractArticlePDF–1.8M
10.
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas
Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042
PMCID:
PMC3178059
AbstractArticlePDF–1.0M
11.
Deafness locus DFNB16 is located on chromosome 15q13-q21 within a 5-cM interval flanked by markers D15S994 and D15S132.
M Villamar, I del Castillo, N Valle, L Romero, F Moreno
Am J Hum Genet. 1999 Apr; 64(4): 1238–1241. doi: 10.1086/302321
PMCID:
PMC1377853
SummaryPDF–138K
12.
A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22.
D A Campbell, D P McHale, K A Brown, L M Moynihan, M Houseman, G Karbani, G Parry, A H Janjua, V Newton, L al-Gazali, A F Markham, N J Lench, R F Mueller
J Med Genet. 1997 Dec; 34(12): 1015–1017. doi: 10.1136/jmg.34.12.1015
PMCID:
PMC1051155
SummaryPage BrowsePDF–426K
13.
Sequence similarity between stereocilin and otoancorin points to a unified mechanism for mechanotransduction in the mammalian inner ear
Luca Jovine, Jong Park, Paul M Wassarman
BMC Cell Biol. 2002; 3: 28. Published online 2002 Nov 25. doi: 10.1186/1471-2121-3-28
PMCID:
PMC139993
AbstractArticlePDF–782K
14.
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences
Mammalian Gene Collection (MGC) Program Team
Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899
PMCID:
PMC139241
AbstractArticlePDF–118K

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