These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
158 related articles for article (PubMed ID: 18798333)
1. 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 Am J Med Genet A; 2008 Oct; 146A(20):2603-10. PubMed ID: 18798333 [TBL] [Abstract][Full Text] [Related]
2. 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 Ophthalmic Genet; 2010 Dec; 31(4):205-8. PubMed ID: 21067481 [TBL] [Abstract][Full Text] [Related]
3. 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 Gene; 2012 Oct; 507(1):68-73. PubMed ID: 22759511 [TBL] [Abstract][Full Text] [Related]
4. 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 Clin Genet; 2014 Aug; 86(2):142-8. PubMed ID: 23889335 [TBL] [Abstract][Full Text] [Related]
5. 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 Gene; 2013 Dec; 532(1):13-7. PubMed ID: 23954224 [TBL] [Abstract][Full Text] [Related]
6. 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 Am J Hum Genet; 2006 Sep; 79(3):562-6. PubMed ID: 16909395 [TBL] [Abstract][Full Text] [Related]
7. Severe Peters Plus syndrome-like phenotype with anterior eye staphyloma and hypoplastic left heart syndrome: proposal of a new syndrome. Shimizu R; Saito R; Hoshino K; Ogawa K; Negishi T; Nishimura J; Mitsui N; Osawa M; Ohashi H Congenit Anom (Kyoto); 2010 Sep; 50(3):197-9. PubMed ID: 20584037 [TBL] [Abstract][Full Text] [Related]
8. Peters plus syndrome. Kapoor S; Mukherjee SB; Arora R; Shroff D Indian J Pediatr; 2008 Jun; 75(6):635-7. PubMed ID: 18759095 [TBL] [Abstract][Full Text] [Related]
9. 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 J Biol Chem; 2008 Mar; 283(12):7354-60. PubMed ID: 18199743 [TBL] [Abstract][Full Text] [Related]
11. Peters Plus syndrome: a recognizable clinical entity. Demir GÜ; Lafcı NG; Doğan ÖA; Şimşek-Kiper PÖ; Utine GE Turk J Pediatr; 2020; 62(1):136-140. PubMed ID: 32253880 [TBL] [Abstract][Full Text] [Related]
12. An Unusual Case of Peters Plus Syndrome with Sexual Ambiguity and Absence of Mutations in the B3GALTL Gene. Siala O; Belguith N; Fakhfakh F Iran J Pediatr; 2013 Aug; 23(4):485-8. PubMed ID: 24427506 [TBL] [Abstract][Full Text] [Related]
13. Peters plus syndrome and Chorioretinal findings associated with B3GLCT gene mutation - a case report. Wang YE; Ramirez DA; Chang TC; Berrocal A BMC Ophthalmol; 2020 Mar; 20(1):118. PubMed ID: 32204707 [TBL] [Abstract][Full Text] [Related]
14. Peters'-plus syndrome is a congenital disorder of glycosylation caused by a defect in the beta1,3-glucosyltransferase that modifies thrombospondin type 1 repeats. Heinonen TY; Maki M Ann Med; 2009; 41(1):2-10. PubMed ID: 18720094 [TBL] [Abstract][Full Text] [Related]
15. 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 J Biol Chem; 2021 Jul; 297(1):100843. PubMed ID: 34058199 [TBL] [Abstract][Full Text] [Related]
16. Anterior segment anomalies of the eye, growth retardation associated with hypoplastic pituitary gland and endocrine abnormalities: Jung syndrome or a new syndrome? Al-Gazali L; Shather B; Kaplan W; Algawi K; Ali BR Am J Med Genet A; 2009 Feb; 149A(2):251-6. PubMed ID: 19161143 [TBL] [Abstract][Full Text] [Related]
17. Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL. Faletra F; Athanasakis E; Minen F; Fornasier F; Marchetti F; Gasparini P Ophthalmic Genet; 2011 Nov; 32(4):256-8. PubMed ID: 21671750 [No Abstract] [Full Text] [Related]
18. Unique Presentation of Corneal Opacity in Peters Plus Syndrome: An Unusual Form of Peters Anomaly Showing Tissue Repair in Serial Analysis. de Nie KF; Wesseling P; Eggink CA Cornea; 2016 Feb; 35(2):277-80. PubMed ID: 26684045 [TBL] [Abstract][Full Text] [Related]
19. Prenatal detection of Peters plus-like syndrome. Canda MT; Doğanay Çağlayan L; Demir AB; Demir N Turk J Obstet Gynecol; 2018 Dec; 15(4):273-276. PubMed ID: 30693145 [TBL] [Abstract][Full Text] [Related]
20. Ocular Phenotype of Peters-Plus Syndrome. Shah PR; Chauhan B; Chu CT; Kofler J; Nischal KK Cornea; 2022 Feb; 41(2):219-223. PubMed ID: 34629439 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]