PMC Links for GEO Profiles (Select 109125108) - PMC

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Items: 14

Select item 106683741.

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

Abstract Article PDF–1.3M

Select item 87558232.

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

Abstract Article PDF–1.2M

Select item 83913423.

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

Abstract Article PDF–1.2M

Select item 66876174.

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

Abstract Article PDF–591K

Select item 64163155.

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

Abstract Article PDF–2.0M

Select item 62444156.

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

Abstract Article PDF–729K

Select item 55377307.

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

Abstract Article PDF–417K

Select item 43022468.

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

Abstract Article PDF–1.5M

Select item 32647419.

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

Abstract Article PDF–1.8M

Select item 317805910.

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

Abstract Article PDF–1.0M

Select item 137785311.

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

Summary PDF–138K

Select item 105115512.

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