PubMed for id: 79809

Year	Number of Results
1993	3
2002	2
2003	2
2004	1
2005	1
2006	1
2008	1
2009	1
2010	2
2011	3
2012	1
2014	2
2015	2
2016	5
2017	5
2018	4
2019	1
2020	1
2021	4
2022	2
2023	2
2024	1

1

Clinical report and genetic analysis of rare premature infant nephronophthisis caused by biallelic TTC21B variants.

Li Y, Dai L, Xu H, Huang J, Zhang J, Mei Z, Zhang R. Li Y, et al. Mol Genet Genomic Med. 2024 Mar;12(3):e2399. doi: 10.1002/mgg3.2399. Mol Genet Genomic Med. 2024. PMID: 38439578 Free PMC article. Review.

2

Retinal dystrophy as part of TTC21B-associated ciliopathy.

Ben-Yosef T, Asia Batsir N, Ali Nasser T, Ehrenberg M. Ben-Yosef T, et al. Ophthalmic Genet. 2021 Jun;42(3):329-333. doi: 10.1080/13816810.2021.1888131. Epub 2021 Feb 18. Ophthalmic Genet. 2021. PMID: 33599192

3

A novel heterotaxy gene: Expansion of the phenotype of TTC21B-spectrum disease.

Strong A, Li D, Mentch F, Hakonarson H. Strong A, et al. Am J Med Genet A. 2021 Apr;185(4):1266-1269. doi: 10.1002/ajmg.a.62093. Epub 2021 Feb 5. Am J Med Genet A. 2021. PMID: 33547761 Free PMC article.

4

Mutations in TTC21B cause different phenotypes in two childhood cases in China.

Zhang H, Su B, Liu X, Xiao H, Ding J, Yao Y. Zhang H, et al. Nephrology (Carlton). 2018 Apr;23(4):371-376. doi: 10.1111/nep.13008. Nephrology (Carlton). 2018. PMID: 28124483

5

Contribution of the TTC21B gene to glomerular and cystic kidney diseases.

Bullich G, Vargas I, Trujillano D, Mendizábal S, Piñero-Fernández JA, Fraga G, García-Solano J, Ballarín J, Estivill X, Torra R, Ars E. Bullich G, et al. Nephrol Dial Transplant. 2017 Jan 1;32(1):151-156. doi: 10.1093/ndt/gfv453. Nephrol Dial Transplant. 2017. PMID: 26940125

6

A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS.

Huynh Cong E, Bizet AA, Boyer O, Woerner S, Gribouval O, Filhol E, Arrondel C, Thomas S, Silbermann F, Canaud G, Hachicha J, Ben Dhia N, Peraldi MN, Harzallah K, Iftene D, Daniel L, Willems M, Noel LH, Bole-Feysot C, Nitschké P, Gubler MC, Mollet G, Saunier S, Antignac C. Huynh Cong E, et al. J Am Soc Nephrol. 2014 Nov;25(11):2435-43. doi: 10.1681/ASN.2013101126. Epub 2014 May 29. J Am Soc Nephrol. 2014. PMID: 24876116 Free PMC article.

7

Lethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21B.

Viehl L, Wegner DJ, Hmiel SP, White FV, Jain S, Cole FS, Wambach JA. Viehl L, et al. Pediatr Nephrol. 2023 Feb;38(2):605-609. doi: 10.1007/s00467-022-05616-z. Epub 2022 Jun 13. Pediatr Nephrol. 2023. PMID: 35695966 Free PMC article.

8

Expanding the phenotype of CRB2 mutations - A new ciliopathy syndrome?

Jaron R, Rosenfeld N, Zahdeh F, Carmi S, Beni-Adani L, Doviner V, Picard E, Segel R, Zeligson S, Carmel L, Renbaum P, Levy-Lahad E. Jaron R, et al. Clin Genet. 2016 Dec;90(6):540-544. doi: 10.1111/cge.12764. Epub 2016 May 2. Clin Genet. 2016. PMID: 26925547

9

Biallelic mutations of TTC12 and TTC21B were identified in Chinese patients with multisystem ciliopathy syndromes.

Chen W, Wang F, Zeng W, Zhang X, Shen L, Zhang Y, Zhou X. Chen W, et al. Hum Genomics. 2022 Oct 22;16(1):48. doi: 10.1186/s40246-022-00421-z. Hum Genomics. 2022. PMID: 36273201 Free PMC article.

10

Ciliopathy-associated mutations of IFT122 impair ciliary protein trafficking but not ciliogenesis.

Takahara M, Katoh Y, Nakamura K, Hirano T, Sugawa M, Tsurumi Y, Nakayama K. Takahara M, et al. Hum Mol Genet. 2018 Feb 1;27(3):516-528. doi: 10.1093/hmg/ddx421. Hum Mol Genet. 2018. PMID: 29220510

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

35 results

Results by year