PubMed for id: 145173

Year	Number of Results
1993	1
2002	1
2003	2
2004	3
2005	1
2006	4
2007	1
2008	2
2009	2
2010	2
2011	2
2012	1
2013	3
2014	2
2015	3
2016	1
2017	2
2018	1
2020	2
2021	6
2022	2
2024	0

1

Peters plus syndrome mutations affect the function and stability of human β1,3-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 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.

3

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.

4

First functional analysis of a novel splicing mutation in the B3GALTL gene by an ex vivo approach in Tunisian patients with typical Peters plus syndrome.

Ben Mahmoud A, Siala O, Mansour RB, Driss F, Baklouti-Gargouri S, Mkaouar-Rebai E, Belguith N, Fakhfakh F. Ben Mahmoud A, et al. Gene. 2013 Dec 10;532(1):13-7. doi: 10.1016/j.gene.2013.07.058. Epub 2013 Aug 14. Gene. 2013. PMID: 23954224

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

Two Tunisian patients with Peters plus syndrome harbouring a novel splice site mutation in the B3GALTL gene that modulates the mRNA secondary structure.

Siala O, Belguith N, Kammoun H, Kammoun B, Hmida N, Chabchoub I, Hchicha M, Fakhfakh F. Siala O, et al. Gene. 2012 Oct 1;507(1):68-73. doi: 10.1016/j.gene.2012.06.052. Epub 2012 Jul 1. Gene. 2012. PMID: 22759511

7

Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL.

Faletra F, Athanasakis E, Minen F, Fornasier F, Marchetti F, Gasparini P. Faletra F, et al. Ophthalmic Genet. 2011 Nov;32(4):256-8. doi: 10.3109/13816810.2011.587082. Epub 2011 Jun 14. Ophthalmic Genet. 2011. PMID: 21671750 No abstract available.

8

A novel nonsense B3GALTL mutation confirms Peters plus syndrome in a patient with multiple malformations and Peters anomaly.

Aliferis K, Marsal C, Pelletier V, Doray B, Weiss MM, Tops CM, Speeg-Schatz C, Lesnik SA, Dollfus H. Aliferis K, et al. Ophthalmic Genet. 2010 Dec;31(4):205-8. doi: 10.3109/13816810.2010.512355. Ophthalmic Genet. 2010. PMID: 21067481

9

Peters Plus Syndrome.

Lesnik Oberstein SAJ, Ruivenkamp CAL, Hennekam RC. Lesnik Oberstein SAJ, et al. 2007 Oct 8 [updated 2017 Aug 24]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2007 Oct 8 [updated 2017 Aug 24]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301637 Free Books & Documents. Review.

10

Novel B3GALTL mutation in Peters-plus Syndrome.

Dassie-Ajdid J, Causse A, Poidvin A, Granier M, Kaplan J, Burglen L, Doummar D, Teisseire P, Vigouroux A, Malecaze F, Calvas P, Chassaing N. Dassie-Ajdid J, et al. Clin Genet. 2009 Nov;76(5):490-2. doi: 10.1111/j.1399-0004.2009.01253.x. Epub 2009 Sep 30. Clin Genet. 2009. PMID: 19796186 No abstract available.

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