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Page 1
Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients.
Nishio SY, Usami SI. Nishio SY, et al. Sci Rep. 2022 Jan 12;12(1):634. doi: 10.1038/s41598-021-04688-5. Sci Rep. 2022. PMID: 35022556 Free PMC article.
The STRC gene, located on chromosome 15q15.3, is one of the genetic causes of autosomal recessive mild-to-moderate sensorineural hearing loss. ...In addition, 77.1% of cases with STRC homozygous deletions carried a two copy loss of the entire CKMT1B-STRC-CATS …
The STRC gene, located on chromosome 15q15.3, is one of the genetic causes of autosomal recessive mild-to-moderate sensorineur …
Genetic testing for hearing loss in the United States should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3.
Hoppman N, Aypar U, Brodersen P, Brown N, Wilson J, Babovic-Vuksanovic D. Hoppman N, et al. Mol Cytogenet. 2013 May 6;6(1):19. doi: 10.1186/1755-8166-6-19. Mol Cytogenet. 2013. PMID: 23648117 Free PMC article.
Sensorineural hearing loss and male infertility (Deafness-Infertility Syndrome; DIS) is a contiguous gene deletion syndrome resulting from homozygous deletion of the CATSPER2 and STRC genes on chromosome 15q15.3. ...RESULTS: We recently indentified a p …
Sensorineural hearing loss and male infertility (Deafness-Infertility Syndrome; DIS) is a contiguous gene deletion syndrome re …
Craniosynostosis in a patient with a de novo 15q15-q22 deletion.
Hiraki Y, Moriuchi M, Okamoto N, Ishikawa N, Sugimoto Y, Eguchi K, Sakai H, Saitsu H, Mizuguchi T, Harada N, Matsumoto N. Hiraki Y, et al. Am J Med Genet A. 2008 Jun 1;146A(11):1462-5. doi: 10.1002/ajmg.a.32339. Am J Med Genet A. 2008. PMID: 18449934
Interstitial deletions involving the chromosomal band 15q15 are very rare. A total of five cases were previously reported. ...Interestingly, the entire FBN1 gene was deleted in this patient....
Interstitial deletions involving the chromosomal band 15q15 are very rare. A total of five cases were previously reported. ... …
Leveraging Unique Chromosomal Microarray Probes to Accurately Detect Copy Number at the Highly Homologous 15q15.3 Deafness-Infertility Syndrome Locus.
Sack LM, Mertens L, Murphy E, Hutchinson L, Giersch ABS, Mason-Suares H. Sack LM, et al. Clin Chem. 2023 Jun 1;69(6):583-594. doi: 10.1093/clinchem/hvad032. Clin Chem. 2023. PMID: 37022747
BACKGROUND: Biallelic deletions at 15q15.3, including STRC and CATSPER2, cause autosomal recessive deafness-infertility syndrome (DIS), while biallelic deletions of STRC alone cause nonsyndromic hearing loss. ...RESULTS: Assessment of 15q15.3 CNVs by C …
BACKGROUND: Biallelic deletions at 15q15.3, including STRC and CATSPER2, cause autosomal recessive deafness-infertility syndro …
Craniosynostosis and congenital heart anomalies associated with a maternal deletion of 15q15-22.1.
Shur N, Cowan J, Wheeler PG. Shur N, et al. Am J Med Genet A. 2003 Aug 1;120A(4):542-6. doi: 10.1002/ajmg.a.20093. Am J Med Genet A. 2003. PMID: 12884436
We report an infant with multiple congenital anomalies, including craniosynostosis, tetralogy of Fallot variant, and limb anomalies associated with a maternal deletion of 15q15-22.1. Only two other patients have been reported with a similar deletion, but the …
We report an infant with multiple congenital anomalies, including craniosynostosis, tetralogy of Fallot variant, and limb anomalies associat …
High-resolution deletion mapping of 15q13.2-q21.1 in transitional cell carcinoma of the bladder.
Natrajan R, Louhelainen J, Williams S, Laye J, Knowles MA. Natrajan R, et al. Cancer Res. 2003 Nov 15;63(22):7657-62. Cancer Res. 2003. PMID: 14633686
Deletions found in several types of human tumor, including carcinomas of the colorectum, breast, and lung, suggest the presence of a potential tumor suppressor gene(s) on chromosome 15. ...LOH was found for at least one marker in the region 15q14-15q15.3 in 2
Deletions found in several types of human tumor, including carcinomas of the colorectum, breast, and lung, suggest the presence of a
CATSPER-Related Male Infertility – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.
Hildebrand MS, Avenarius MR, Smith RJH. Hildebrand MS, et al. 2009 Dec 3 [updated 2017 Mar 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2009 Dec 3 [updated 2017 Mar 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301780 Free Books & Documents. Review.
The diagnosis of DIS is established in both males and females by the identification of biallelic contiguous-gene deletions at chromosome 15q15.3 that includes both CATSPER2 and STRC. MANAGEMENT: Treatment of manifestations: For infertile males with DIS or CAT …
The diagnosis of DIS is established in both males and females by the identification of biallelic contiguous-gene deletions at …
Sensorineural deafness and male infertility: a contiguous gene deletion syndrome.
Zhang Y, Malekpour M, Al-Madani N, Kahrizi K, Zanganeh M, Lohr NJ, Mohseni M, Mojahedi F, Daneshi A, Najmabadi H, Smith RJ. Zhang Y, et al. J Med Genet. 2007 Apr;44(4):233-40. doi: 10.1136/jmg.2006.045765. Epub 2006 Nov 10. J Med Genet. 2007. PMID: 17098888 Free PMC article.
BACKGROUND: Syndromic hearing loss that results from contiguous gene deletions is uncommon. Deafness-infertility syndrome (DIS) is caused by large contiguous gene deletions at 15q15.3. ...CONCLUSION: We have identified three families segregating …
BACKGROUND: Syndromic hearing loss that results from contiguous gene deletions is uncommon. Deafness-infertility syndrome (DIS …
Prenatal cytogenomic identification and molecular refinement of compound heterozygous STRC deletion breakpoints.
Shi L, Bai Y, Kharbutli Y, Oza AM, Amr SS, Edelmann L, Mehta L, Scott SA. Shi L, et al. Mol Genet Genomic Med. 2019 Aug;7(8):e806. doi: 10.1002/mgg3.806. Epub 2019 Jun 19. Mol Genet Genomic Med. 2019. PMID: 31218851 Free PMC article.
Here, we report the prenatal detection of a compound heterozygous deletion at chromosome 15q15.3 by clinical chromosomal microarray (CMA) testing that included the CATSPER2 male infertility gene. However, given the low resolution of CMA at this homologous loc …
Here, we report the prenatal detection of a compound heterozygous deletion at chromosome 15q15.3 by clinical chromosomal micro …
Sensorineural deafness and male infertility: a contiguous gene deletion syndrome.
Zhang Y, Malekpour M, Al-Madani N, Kahrizi K, Zanganeh M, Mohseni M, Mojahedi F, Daneshi A, Najmabadi H, Smith RJ. Zhang Y, et al. BMJ Case Rep. 2009;2009:bcr08.2008.0645. doi: 10.1136/bcr.08.2008.0645. Epub 2009 Jan 23. BMJ Case Rep. 2009. PMID: 21686705 Free PMC article.
Syndromic hearing loss that results from contiguous gene deletions is uncommon.Three families with a novel syndrome characterised by deafness and infertility are described. ...We have identified three families segregating an autosomal recessive contiguous gene
Syndromic hearing loss that results from contiguous gene deletions is uncommon.Three families with a novel syndrome characteri …
40 results