Format
Sort by
Items per page

Send to

Choose Destination

Links from Books

Items: 1 to 20 of 23

1.

[Long-term prognosis of Peters anomaly].

Reichl S, Böhringer D, Richter O, Lagrèze W, Reinhard T.

Ophthalmologe. 2017 May 8. doi: 10.1007/s00347-017-0498-7. [Epub ahead of print] German.

PMID:
28484852
2.

8q21.11 microdeletion in two patients with syndromic peters anomaly.

Happ H, Schilter KF, Weh E, Reis LM, Semina EV.

Am J Med Genet A. 2016 Sep;170(9):2471-5. doi: 10.1002/ajmg.a.37840. Epub 2016 Jul 5. Review.

3.

Whole exome sequence analysis of Peters anomaly.

Weh E, Reis LM, Happ HC, Levin AV, Wheeler PG, David KL, Carney E, Angle B, Hauser N, Semina EV.

Hum Genet. 2014 Dec;133(12):1497-511. doi: 10.1007/s00439-014-1481-x. Epub 2014 Sep 3.

4.
5.

Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations. Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele.

Schoner K, Kohlhase J, Müller AM, Schramm T, Plassmann M, Schmitz R, Neesen J, Wieacker P, Rehder H.

Prenat Diagn. 2013 Jan;33(1):75-80. doi: 10.1002/pd.4012. Epub 2012 Nov 13.

PMID:
23161355
6.

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.

7.

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
8.

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.

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.

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.

10.

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
11.

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
12.

Prenatal sonographic findings in Peters-plus syndrome.

Boog G, Le Vaillant C, Joubert M.

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

13.

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
14.

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
15.

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
16.

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
17.

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
18.

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
19.

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
20.

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

Supplemental Content

Support Center