Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 186

1.

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
[PubMed - indexed for MEDLINE]
2.

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
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
5.

Prenatal detection of associated anomalies in fetuses diagnosed with cleft lip with or without cleft palate in utero.

Chmait R, Pretorius D, Moore T, Hull A, James G, Nelson T, Jones M.

Ultrasound Obstet Gynecol. 2006 Feb;27(2):173-6.

PMID:
16247756
[PubMed - indexed for MEDLINE]
Free Article
6.

Walker-Warburg syndrome with cleft lip and cleft palate in two sibs.

Burton BK, Dillard RG, Weaver RG.

Am J Med Genet. 1987 Jul;27(3):537-41.

PMID:
3631127
[PubMed - indexed for MEDLINE]
7.

Peters'-Plus syndrome with agenesis of the corpus callosum: report of a case and confirmation of autosomal recessive inheritance.

Camera G, Centa A, Pozzolo S, Camera A.

Clin Dysmorphol. 1993 Oct;2(4):317-21.

PMID:
8305962
[PubMed - indexed for MEDLINE]
8.

Prenatal neurologic anomalies: sonographic diagnosis and treatment.

De Catte L, De Keersmaeker B, Claus F.

Paediatr Drugs. 2012 Jun 1;14(3):143-55. doi: 10.2165/11597030-000000000-00000. Review.

PMID:
22242843
[PubMed - indexed for MEDLINE]
9.

Natural history of 70 fetuses with a prenatally diagnosed orofacial cleft.

Bergé SJ, Plath H, von Lindern JJ, Appel T, Niederhagen B, Van de Vondel PT, Hansmann M.

Fetal Diagn Ther. 2002 Jul-Aug;17(4):247-51.

PMID:
12065955
[PubMed - indexed for MEDLINE]
10.

[Management of cleft lip and/or palate diagnosed in utero].

Fischer N, Perrotin F, Tranquart F, Robert M, Lansac J, Body G.

J Gynecol Obstet Biol Reprod (Paris). 1999 Sep;28(5):446-55. French.

PMID:
10566164
[PubMed - indexed for MEDLINE]
Free Article
11.

Fetal cleft lip and palate: sonographic diagnosis, chromosomal abnormalities, associated anomalies and postnatal outcome in 70 fetuses.

Bergé SJ, Plath H, Van de Vondel PT, Appel T, Niederhagen B, Von Lindern JJ, Reich RH, Hansmann M.

Ultrasound Obstet Gynecol. 2001 Nov;18(5):422-31.

PMID:
11844159
[PubMed - indexed for MEDLINE]
Free Article
12.

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
[PubMed - indexed for MEDLINE]
13.

Heterogeneity in fetal akinesia deformation sequence (FADS): autopsy confirmation in three 20-21-week fetuses.

Yfantis H, Nonaka D, Castellani R, Harman C, Sun CC.

Prenat Diagn. 2002 Jan;22(1):42-7.

PMID:
11810649
[PubMed - indexed for MEDLINE]
14.

Transvaginal sonographic detection of adducted thumbs, hydrocephalus, and agenesis of the corpus callosum at 22 postmenstrual weeks: the masa spectrum or L1 spectrum. A case report and review of the literature.

Timor-Tritsch IE, Monteagudo A, Haratz-Rubinstein N, Levine RU.

Prenat Diagn. 1996 Jun;16(6):543-8. Review.

PMID:
8809896
[PubMed - indexed for MEDLINE]
15.

Antenatal detection of cleft lip with or without cleft palate: incidence of associated chromosomal and structural anomalies.

Gillham JC, Anand S, Bullen PJ.

Ultrasound Obstet Gynecol. 2009 Oct;34(4):410-5. doi: 10.1002/uog.6447.

PMID:
19790102
[PubMed - indexed for MEDLINE]
Free Article
16.

[Fetal ventriculomegaly: diagnosis using magnetic resonance imaging and its prognosis].

Liu CX, Chen J, Yin SW.

Zhonghua Fu Chan Ke Za Zhi. 2010 Jan;45(1):22-5. Chinese.

PMID:
20367921
[PubMed - indexed for MEDLINE]
17.

The Dandy-Walker malformation prenatal sonographic diagnosis and its clinical significance.

Nyberg DA, Cyr DR, Mack LA, Fitzsimmons J, Hickok D, Mahony BS.

J Ultrasound Med. 1988 Feb;7(2):65-71.

PMID:
3279226
[PubMed - indexed for MEDLINE]
Free Article
18.

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]
19.

Accuracy of prenatal three-dimensional ultrasound in the diagnosis of cleft hard palate when cleft lip is present.

Bäumler M, Faure JM, Bigorre M, Bäumler-Patris C, Boulot P, Demattei C, Captier G.

Ultrasound Obstet Gynecol. 2011 Oct;38(4):440-4. doi: 10.1002/uog.8933. Epub 2011 Aug 25.

PMID:
21936003
[PubMed - indexed for MEDLINE]
Free Article
20.

Fetal cleft lip with and without cleft palate: comparison between MR imaging and US for prenatal diagnosis.

Wang G, Shan R, Zhao L, Zhu X, Zhang X.

Eur J Radiol. 2011 Sep;79(3):437-42. doi: 10.1016/j.ejrad.2010.03.026. Epub 2010 Apr 24.

PMID:
20418035
[PubMed - indexed for MEDLINE]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk