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Results: 19

1.

A 781-kb deletion of 13q12.3 in a patient with Peters plus syndrome.

Haldeman-Englert CR, Naeem T, Geiger EA, Warnock A, Feret H, Ciano M, Davidson SL, Deardorff MA, Zackai EH, Shaikh TH.

Am J Med Genet A. 2009 Aug;149A(8):1842-5. doi: 10.1002/ajmg.a.32980. No abstract available.

PMID:
19610101
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Long-term visual prognosis in children after corneal transplant surgery for Peters anomaly type I.

Zaidman GW, Flanagan JK, Furey CC.

Am J Ophthalmol. 2007 Jul;144(1):104-108.

PMID:
17601429
[PubMed - indexed for MEDLINE]
3.

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
4.

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
5.

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
6.

Congenital hypothyroidism in Peters plus syndrome.

Kosaki R, Kamiishi A, Sugiyama R, Kawai M, Hasegawa T, Kosaki K.

Ophthalmic Genet. 2006 Jun;27(2):67-9.

PMID:
16754209
[PubMed - indexed for MEDLINE]
7.

Prenatal sonographic findings in Peters-plus syndrome.

Boog G, Le Vaillant C, Joubert M.

Ultrasound Obstet Gynecol. 2005 Jun;25(6):602-6.

PMID:
15912477
[PubMed - indexed for MEDLINE]
Free Article
8.

Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome.

Maclean K, Smith J, St Heaps L, Chia N, Williams R, Peters GB, Onikul E, McCrossin T, Lehmann OJ, Adès LC.

Am J Med Genet A. 2005 Feb 1;132A(4):381-5. Review.

PMID:
15654696
[PubMed - indexed for MEDLINE]
9.

Growth hormone deficiency (GHD): a new association in Peters' Plus Syndrome (PPS).

Lee KW, Lee PD.

Am J Med Genet A. 2004 Feb 1;124A(4):388-91.

PMID:
14735587
[PubMed - indexed for MEDLINE]
10.

Surgical management of glaucoma in infants and children with Peters' anomaly: long-term structural and functional outcome.

Yang LL, Lambert SR, Lynn MJ, Stulting RD.

Ophthalmology. 2004 Jan;111(1):112-7.

PMID:
14711722
[PubMed - indexed for MEDLINE]
11.

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]
12.

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]
13.

Severe presentation of Peters'-Plus syndrome.

Lacombe D, Llanas B, Chateil JF, Sarrazin E, Carles D, Battin J.

Clin Dysmorphol. 1994 Oct;3(4):358-60. No abstract available.

PMID:
7894743
[PubMed - indexed for MEDLINE]
14.

Kivlin syndrome and Peters'-Plus syndrome: are they the same disorder?

Thompson EM, Winter RM, Baraitser M.

Clin Dysmorphol. 1993 Oct;2(4):301-16.

PMID:
7508317
[PubMed - indexed for MEDLINE]
15.

The Peters'-Plus syndrome: description of 16 patients and review of the literature.

Hennekam RC, Van Schooneveld MJ, Ardinger HH, Van Den Boogaard MJ, Friedburg D, Rudnik-Schoneborn S, Seguin JH, Weatherstone KB, Wittebol-Post D, Meinecke P.

Clin Dysmorphol. 1993 Oct;2(4):283-300. Review.

PMID:
7508316
[PubMed - indexed for MEDLINE]
16.

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]
17.

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]
18.

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]
19.

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
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