Similar articles for PMID: 21353196

Year	Number of Results
1988	1
1993	1
1996	1
1997	1
2000	1
2002	2
2004	2
2005	1
2006	1
2008	1
2009	1
2010	2
2011	9
2012	15
2013	9
2014	9
2015	6
2016	18
2017	9
2018	12
2019	5
2020	9
2021	10
2022	8
2023	4
2024	0

1

Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta.

Becker J, Semler O, Gilissen C, Li Y, Bolz HJ, Giunta C, Bergmann C, Rohrbach M, Koerber F, Zimmermann K, de Vries P, Wirth B, Schoenau E, Wollnik B, Veltman JA, Hoischen A, Netzer C. Becker J, et al. Am J Hum Genet. 2011 Mar 11;88(3):362-71. doi: 10.1016/j.ajhg.2011.01.015. Epub 2011 Feb 25. Am J Hum Genet. 2011. PMID: 21353196 Free PMC article.

2

Novel Mutations in SERPINF1 Result in Rare Osteogenesis Imperfecta Type VI.

Wang JY, Liu Y, Song LJ, Lv F, Xu XJ, San A, Wang J, Yang HM, Yang ZY, Jiang Y, Wang O, Xia WB, Xing XP, Li M. Wang JY, et al. Calcif Tissue Int. 2017 Jan;100(1):55-66. doi: 10.1007/s00223-016-0201-z. Epub 2016 Oct 28. Calcif Tissue Int. 2017. PMID: 27796462

3

A novel IFITM5 mutation in severe atypical osteogenesis imperfecta type VI impairs osteoblast production of pigment epithelium-derived factor.

Farber CR, Reich A, Barnes AM, Becerra P, Rauch F, Cabral WA, Bae A, Quinlan A, Glorieux FH, Clemens TL, Marini JC. Farber CR, et al. J Bone Miner Res. 2014 Jun;29(6):1402-11. doi: 10.1002/jbmr.2173. J Bone Miner Res. 2014. PMID: 24519609 Free PMC article.

4

Mutations in SERPINF1 cause osteogenesis imperfecta type VI.

Homan EP, Rauch F, Grafe I, Lietman C, Doll JA, Dawson B, Bertin T, Napierala D, Morello R, Gibbs R, White L, Miki R, Cohn DH, Crawford S, Travers R, Glorieux FH, Lee B. Homan EP, et al. J Bone Miner Res. 2011 Dec;26(12):2798-803. doi: 10.1002/jbmr.487. J Bone Miner Res. 2011. PMID: 21826736 Free PMC article.

5

Novel mutations of the SERPINF1 and FKBP10 genes in Chinese families with autosomal recessive osteogenesis imperfecta.

Zhang H, Xu Y, Yue H, Wang C, Gu J, He J, Fu W, Hu W, Zhang Z. Zhang H, et al. Int J Mol Med. 2018 Jun;41(6):3662-3670. doi: 10.3892/ijmm.2018.3542. Epub 2018 Mar 7. Int J Mol Med. 2018. PMID: 29512769

6

A co-occurrence of osteogenesis imperfecta type VI and cystinosis.

Tucker T, Nelson T, Sirrs S, Roughley P, Glorieux FH, Moffatt P, Schlade-Bartusiak K, Brown L, Rauch F. Tucker T, et al. Am J Med Genet A. 2012 Jun;158A(6):1422-6. doi: 10.1002/ajmg.a.35319. Epub 2012 Apr 23. Am J Med Genet A. 2012. PMID: 22528245

7

Biallelic variants in four genes underlying recessive osteogenesis imperfecta.

Hayat A, Hussain S, Bilal M, Kausar M, Almuzzaini B, Abbas S, Tanveer A, Khan A, Siddiqi S, Foo JN, Ahmad F, Khan F, Khan B, Anees M, Mäkitie O, Alfadhel M, Ahmad W, Umair M. Hayat A, et al. Eur J Med Genet. 2020 Aug;63(8):103954. doi: 10.1016/j.ejmg.2020.103954. Epub 2020 May 13. Eur J Med Genet. 2020. PMID: 32413570

8

Extremely low level of serum pigment epithelium-derived factor is a special biomarker of Chinese osteogenesis imperfecta patients with SERPINF1 mutations.

Wang JY, Li LJ, Zhang Q, Liu Y, Lv F, Xu XJ, Song YW, Wang O, Jiang Y, Xia WB, Xing XP, Li M. Wang JY, et al. Clin Chim Acta. 2018 Mar;478:216-221. doi: 10.1016/j.cca.2017.10.032. Epub 2017 Nov 6. Clin Chim Acta. 2018. PMID: 29104038

9

Lack of expression of SERPINF1, the gene coding for pigment epithelium-derived factor, causes progressively deforming osteogenesis imperfecta with normal type I collagen.

Venturi G, Gandini A, Monti E, Dalle Carbonare L, Corradi M, Vincenzi M, Valenti MT, Valli M, Pelilli E, Boner A, Mottes M, Antoniazzi F. Venturi G, et al. J Bone Miner Res. 2012 Mar;27(3):723-8. doi: 10.1002/jbmr.1480. J Bone Miner Res. 2012. PMID: 22113968 Free article.

10

Mutations in patients with osteogenesis imperfecta from consanguineous Indian families.

Stephen J, Girisha KM, Dalal A, Shukla A, Shah H, Srivastava P, Kornak U, Phadke SR. Stephen J, et al. Eur J Med Genet. 2015 Jan;58(1):21-7. doi: 10.1016/j.ejmg.2014.10.001. Epub 2014 Oct 24. Eur J Med Genet. 2015. PMID: 25450603

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