PubMed (OMIM) for id: 1299

Year	Number of Results
1995	2
1996	1
1998	2
1999	4
2000	2
2001	1
2005	2
2007	2
2008	2
2010	1
2013	1
2014	1
2018	1
2019	1
2021	1
2022	1
2024	0

1

Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome.

Rad A, Najafi M, Suri F, Abedini S, Loum S, Karimiani EG, Daftarian N, Murphy D, Doosti M, Moghaddasi A, Ahmadieh H, Sabbaghi H, Rajati M, Hashemi N, Vona B, Schmidts M. Rad A, et al. Orphanet J Rare Dis. 2022 Mar 3;17(1):97. doi: 10.1186/s13023-022-02244-6. Orphanet J Rare Dis. 2022. PMID: 35241111 Free PMC article.

2

Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene.

Markova T, Sparber P, Borovikov A, Nagornova T, Dadali E. Markova T, et al. Mol Genet Genomic Med. 2021 Mar;9(3):e1620. doi: 10.1002/mgg3.1620. Epub 2021 Feb 11. Mol Genet Genomic Med. 2021. PMID: 33570243 Free PMC article.

3

Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome-Expanding the phenotype.

Nixon TRW, Alexander P, Richards A, McNinch A, Bearcroft PWP, Cobben J, Snead MP. Nixon TRW, et al. Am J Med Genet A. 2019 Aug;179(8):1498-1506. doi: 10.1002/ajmg.a.61191. Epub 2019 May 14. Am J Med Genet A. 2019. PMID: 31090205

4

Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation.

Hanson-Kahn A, Li B, Cohn DH, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics; Hudgins L. Hanson-Kahn A, et al. Am J Med Genet A. 2018 Dec;176(12):2887-2891. doi: 10.1002/ajmg.a.40647. Epub 2018 Nov 18. Am J Med Genet A. 2018. PMID: 30450842 Free PMC article. Review.

5

Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene.

Faletra F, D'Adamo AP, Bruno I, Athanasakis E, Biskup S, Esposito L, Gasparini P. Faletra F, et al. Am J Med Genet A. 2014 Jan;164A(1):42-7. doi: 10.1002/ajmg.a.36165. Epub 2013 Nov 22. Am J Med Genet A. 2014. PMID: 24273071

6

COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplasia.

Goldstein O, Guyon R, Kukekova A, Kuznetsova TN, Pearce-Kelling SE, Johnson J, Aguirre GD, Acland GM. Goldstein O, et al. Mamm Genome. 2010 Aug;21(7-8):398-408. doi: 10.1007/s00335-010-9276-4. Epub 2010 Aug 5. Mamm Genome. 2010. PMID: 20686772 Free PMC article.

7

A functional polymorphism in THBS2 that affects alternative splicing and MMP binding is associated with lumbar-disc herniation.

Hirose Y, Chiba K, Karasugi T, Nakajima M, Kawaguchi Y, Mikami Y, Furuichi T, Mio F, Miyake A, Miyamoto T, Ozaki K, Takahashi A, Mizuta H, Kubo T, Kimura T, Tanaka T, Toyama Y, Ikegawa S. Hirose Y, et al. Am J Hum Genet. 2008 May;82(5):1122-9. doi: 10.1016/j.ajhg.2008.03.013. Epub 2008 May 1. Am J Hum Genet. 2008. PMID: 18455130 Free PMC article.

8

Association of the asporin D14 allele with lumbar-disc degeneration in Asians.

Song YQ, Cheung KM, Ho DW, Poon SC, Chiba K, Kawaguchi Y, Hirose Y, Alini M, Grad S, Yee AF, Leong JC, Luk KD, Yip SP, Karppinen J, Cheah KS, Sham P, Ikegawa S, Chan D. Song YQ, et al. Am J Hum Genet. 2008 Mar;82(3):744-7. doi: 10.1016/j.ajhg.2007.12.017. Epub 2008 Feb 21. Am J Hum Genet. 2008. PMID: 18304494 Free PMC article.

9

A functional polymorphism in COL11A1, which encodes the alpha 1 chain of type XI collagen, is associated with susceptibility to lumbar disc herniation.

Mio F, Chiba K, Hirose Y, Kawaguchi Y, Mikami Y, Oya T, Mori M, Kamata M, Matsumoto M, Ozaki K, Tanaka T, Takahashi A, Kubo T, Kimura T, Toyama Y, Ikegawa S. Mio F, et al. Am J Hum Genet. 2007 Dec;81(6):1271-7. doi: 10.1086/522377. Epub 2007 Oct 16. Am J Hum Genet. 2007. PMID: 17999364 Free PMC article.

10

Phenotypic and population differences in the association between CILP and lumbar disc disease.

Virtanen IM, Song YQ, Cheung KM, Ala-Kokko L, Karppinen J, Ho DW, Luk KD, Yip SP, Leong JC, Cheah KS, Sham P, Chan D. Virtanen IM, et al. J Med Genet. 2007 Apr;44(4):285-8. doi: 10.1136/jmg.2006.047076. Epub 2007 Jan 12. J Med Genet. 2007. PMID: 17220213 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

24 results

Results by year