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Results: 15

1.

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.

Clin Genet. 2009 Nov;76(5):490-2. doi: 10.1111/j.1399-0004.2009.01253.x. Epub 2009 Sep 30. No abstract available.

PMID:
19796186
[PubMed - indexed for MEDLINE]
2.

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 15;146A(20):2603-10. doi: 10.1002/ajmg.a.32498.

PMID:
18798333
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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 21;283(12):7354-60. doi: 10.1074/jbc.M710251200. Epub 2008 Jan 16.

PMID:
18199743
[PubMed - indexed for MEDLINE]
Free Article
4.

Identification and characterization of abeta1,3-glucosyltransferase that synthesizes the Glc-beta1,3-Fuc disaccharide on thrombospondin type 1 repeats.

Kozma K, Keusch JJ, Hegemann B, Luther KB, Klein D, Hess D, Haltiwanger RS, Hofsteenge J.

J Biol Chem. 2006 Dec 1;281(48):36742-51. Epub 2006 Oct 10.

PMID:
17032646
[PubMed - indexed for MEDLINE]
Free Article
5.

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. Epub 2006 Jul 19. Erratum in: Am J Hum Genet. 2006 Nov;79(5):985.

PMID:
16909395
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Molecular cloning and characterization of a novel human beta1,3-glucosyltransferase, which is localized at the endoplasmic reticulum and glucosylates O-linked fucosylglycan on thrombospondin type 1 repeat domain.

Sato T, Sato M, Kiyohara K, Sogabe M, Shikanai T, Kikuchi N, Togayachi A, Ishida H, Ito H, Kameyama A, Gotoh M, Narimatsu H.

Glycobiology. 2006 Dec;16(12):1194-206. Epub 2006 Aug 9.

PMID:
16899492
[PubMed - indexed for MEDLINE]
Free Article
7.

A novel human glycosyltransferase: primary structure and characterization of the gene and transcripts.

Heinonen TY, Pasternack L, Lindfors K, Breton C, Gastinel LN, Mäki M, Kainulainen H.

Biochem Biophys Res Commun. 2003 Sep 12;309(1):166-74.

PMID:
12943678
[PubMed - indexed for MEDLINE]
8.

The Peters' plus syndrome: a review.

Maillette de Buy Wenniger-Prick LJ, Hennekam RC.

Ann Genet. 2002 Apr-Jun;45(2):97-103. Review.

PMID:
12119218
[PubMed - indexed for MEDLINE]
9.

Peters'-plus: a new syndrome.

van Schooneveld MJ, Delleman JW, Beemer FA, Bleeker-Wagemakers EM.

Ophthalmic Paediatr Genet. 1984 Dec;4(3):141-5.

PMID:
6443615
[PubMed - indexed for MEDLINE]
10.

Autosomal recessive Robinow-like syndrome with anterior chamber cleavage anomalies.

Saal HM, Greenstein RM, Weinbaum PJ, Poole AE.

Am J Med Genet. 1988 Jul;30(3):709-18.

PMID:
3189394
[PubMed - indexed for MEDLINE]
11.

Peters' anomaly as a consequence of genetic and nongenetic syndromes.

Kivlin JD, Fineman RM, Crandall AS, Olson RJ.

Arch Ophthalmol. 1986 Jan;104(1):61-4.

PMID:
3079999
[PubMed - indexed for MEDLINE]
12.

A child with sclerocornea, short limbs, short stature, and distinct facial appearance.

Thompson EM, Winter RM.

Am J Med Genet. 1988 Jul;30(3):719-24. Review.

PMID:
3055984
[PubMed - indexed for MEDLINE]
13.

Autosomal recessive Peters anomaly, typical facial appearance, failure to thrive, hydrocephalus, and other anomalies: further delineation of the Krause-Kivlin syndrome.

Frydman M, Weinstock AL, Cohen HA, Savir H, Varsano I.

Am J Med Genet. 1991 Jul 1;40(1):34-40. Review.

PMID:
1887847
[PubMed - indexed for MEDLINE]
14.

Short stature, brachydactyly, and Peters' anomaly (Peters'-plus syndrome): confirmation of autosomal recessive inheritance.

de Almeida JC, Reis DF, Llerena Júnior J, Barbosa Neto J, Pontes RL, Middleton S, Telles LF.

J Med Genet. 1991 Apr;28(4):277-9.

PMID:
1856836
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Japanese girl with Krause-van Schooneveld-Kivlin syndrome: Peters anomaly with short-limb dwarfism: Peter-Plus syndrome.

Ishikiriyama S, Isobe M, Kuroda N, Yamamoto Y.

Am J Med Genet. 1992 Nov 15;44(5):701-2. No abstract available.

PMID:
1481836
[PubMed - indexed for MEDLINE]

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