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Results: 1 to 20 of 142

Similar articles for PubMed (Select 20584037)

1.

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. doi: 10.1111/j.1741-4520.2010.00282.x. Epub 2010 Jun 24.

PMID:
20584037
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. doi: 10.3109/13816810.2010.512355.

PMID:
21067481
3.

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
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. doi: 10.1111/cge.12241. Epub 2013 Sep 17.

PMID:
23889335
5.

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 1;507(1):68-73. doi: 10.1016/j.gene.2012.06.052. Epub 2012 Jul 1.

PMID:
22759511
6.

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 10;532(1):13-7. doi: 10.1016/j.gene.2013.07.058. Epub 2013 Aug 14.

PMID:
23954224
7.
8.

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.

9.

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. doi: 10.3109/13816810.2011.587082. Epub 2011 Jun 14. No abstract available.

PMID:
21671750
10.

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
11.

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.

12.

Peters'-Plus syndrome: report on an unusual case.

Camera G, Pozzolo S, Carta M, Righi E.

Pathologica. 1994 Dec;86(6):673-5.

PMID:
7617402
13.

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.

14.
15.

Amniotic bands as a cause of congenital anterior staphyloma.

Schramm C, Rohrbach JM, Reinert S, Mau-Holzmann UA, Aisenbrey S, Bartz-Schmidt KU, Besch D.

Graefes Arch Clin Exp Ophthalmol. 2013 Mar;251(3):959-65. doi: 10.1007/s00417-012-2197-z. Epub 2012 Nov 13.

PMID:
23150045
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. doi: 10.1002/ajmg.a.32626.

PMID:
19161143
17.

[Intensive intracorneal keloid formation in a case of Peters plus syndrome and in Peters anomaly with maximum manifestation].

Eberwein P, Reinhard T, Agostini H, Poloschek CM, Guthoff R, Auw-Haedrich C.

Ophthalmologe. 2010 Feb;107(2):178-81. doi: 10.1007/s00347-009-2014-1. German.

PMID:
19756642
18.

A girl with Peters plus syndrome associated with myelomeningocele and chronic renal failure.

Motoyama O, Arai H, Harada R, Hasegawa K, Iitaka K.

Clin Exp Nephrol. 2010 Aug;14(4):381-4. doi: 10.1007/s10157-010-0283-2. Epub 2010 Apr 28.

PMID:
20424881
19.

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
20.

Peters' anomaly. The spectrum of associated ocular and systemic malformations.

Heon E, Barsoum-Homsy M, Cevrette L, Jacob JL, Milot J, Polemeno R, Musarella MA.

Ophthalmic Paediatr Genet. 1992 Jun;13(2):137-43.

PMID:
1495764
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