Peters[title] AND plus[title] AND syndrome[title] AND "loattrfree full text"[sb] AND "loattrfull text"[sb] AND "humans"[MeSH Terms] - Search Results

Year	Number of Results
1991	1
2005	1
2006	1
2008	2
2009	1
2013	1
2014	2
2015	1
2016	2
2017	1
2019	1
2020	2
2021	2
2024	0

1

Peters plus syndrome mutations affect the function and stability of human beta1,3-glucosyltransferase.

Zhang A, Venkat A, Taujale R, Mull JL, Ito A, Kannan N, Haltiwanger RS. Zhang A, et al. J Biol Chem. 2021 Jul;297(1):100843. doi: 10.1016/j.jbc.2021.100843. Epub 2021 May 28. J Biol Chem. 2021. PMID: 34058199 Free PMC article.

2

Peters plus syndrome mutations disrupt a noncanonical ER quality-control mechanism.

Vasudevan D, Takeuchi H, Johar SS, Majerus E, Haltiwanger RS. Vasudevan D, et al. Curr Biol. 2015 Feb 2;25(3):286-295. doi: 10.1016/j.cub.2014.11.049. Epub 2014 Dec 24. Curr Biol. 2015. PMID: 25544610 Free PMC article.

3

Peters Plus syndrome: a recognizable clinical entity.

Demir GÜ, Lafcı NG, Doğan ÖA, Şimşek-Kiper PÖ, Utine GE. Demir GÜ, et al. Turk J Pediatr. 2020;62(1):136-140. doi: 10.24953/turkjped.2020.01.020. Turk J Pediatr. 2020. PMID: 32253880 Free article.

4

Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type 1 repeats.

Hess D, Keusch JJ, Oberstein SA, Hennekam RC, Hofsteenge J. Hess D, et al. J Biol Chem. 2008 Mar 21;283(12):7354-60. doi: 10.1074/jbc.M710251200. Epub 2008 Jan 16. J Biol Chem. 2008. PMID: 18199743 Free article.

5

Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes.

Weh E, Reis LM, Tyler RC, Bick D, Rhead WJ, Wallace S, McGregor TL, Dills SK, Chao MC, Murray JC, Semina EV. Weh E, et al. Clin Genet. 2014 Aug;86(2):142-8. doi: 10.1111/cge.12241. Epub 2013 Sep 17. Clin Genet. 2014. PMID: 23889335 Free PMC article.

6

Clinical utility gene card for: Peters plus syndrome.

Jaeken J, Lefeber DJ, Matthijs G. Jaeken J, et al. Eur J Hum Genet. 2016 Aug;24(8). doi: 10.1038/ejhg.2016.32. Epub 2016 Apr 6. Eur J Hum Genet. 2016. PMID: 27049305 Free PMC article. No abstract available.

7

Peters plus syndrome and Chorioretinal findings associated with B3GLCT gene mutation - a case report.

Wang YE, Ramirez DA, Chang TC, Berrocal A. Wang YE, et al. BMC Ophthalmol. 2020 Mar 23;20(1):118. doi: 10.1186/s12886-020-01380-6. BMC Ophthalmol. 2020. PMID: 32204707 Free PMC article.

8

Mutation analysis of B3GALTL in Peters Plus syndrome.

Reis LM, Tyler RC, Abdul-Rahman O, Trapane P, Wallerstein R, Broome D, Hoffman J, Khan A, Paradiso C, Ron N, Bergner A, Semina EV. Reis LM, et al. Am J Med Genet A. 2008 Oct 15;146A(20):2603-10. doi: 10.1002/ajmg.a.32498. Am J Med Genet A. 2008. PMID: 18798333 Free PMC article.

9

Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase.

Lesnik Oberstein SA, Kriek M, White SJ, Kalf ME, Szuhai K, den Dunnen JT, Breuning MH, Hennekam RC. Lesnik Oberstein SA, et al. Am J Hum Genet. 2006 Sep;79(3):562-6. doi: 10.1086/507567. Epub 2006 Jul 19. Am J Hum Genet. 2006. PMID: 16909395 Free PMC article.

10

High-Throughput miRFluR Platform Identifies miRNA Regulating B3GLCT That Predict Peters' Plus Syndrome Phenotype, Supporting the miRNA Proxy Hypothesis.

Thu CT, Chung JY, Dhawan D, Vaiana CA, Mahal LK. Thu CT, et al. ACS Chem Biol. 2021 Oct 15;16(10):1900-1907. doi: 10.1021/acschembio.1c00247. Epub 2021 Jun 4. ACS Chem Biol. 2021. PMID: 34085516 Free PMC article.

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