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Items: 1 to 20 of 102

1.

Familial Hydrocephalus and Dysgenesis of the Corpus Callosum Associated with Xp22.33 Duplication and Stenosis of the Aqueduct of Sylvius with X-Linked Recessive Inheritance Pattern.

Alhousseini A, Zeineddine S, Husseini A, Baddah H, Saker H, Mody S, Ibrahim SA, Thakur M, Hernandez-Andrade E, Bahado-Singh R.

Gynecol Obstet Invest. 2019;84(4):412-416. doi: 10.1159/000499505. Epub 2019 Apr 9.

PMID:
30965333
2.

Autosomal recessive hydrocephalus due to congenital stenosis of the aqueduct of sylvius.

Hamada H, Watanabe H, Sugimoto M, Yasuoka M, Yamada N, Kubo T.

Prenat Diagn. 1999 Nov;19(11):1067-9.

PMID:
10589063
3.

Prenatal diagnosis of hydrocephalus-stenosis of the aqueduct of Sylvius by ultrasound in the first trimester of pregnancy. Report of two cases.

Senat MV, Bernard JP, Delezoide A, Saugier-Veber P, Hillion Y, Roume J, Ville Y.

Prenat Diagn. 2001 Dec;21(13):1129-32.

PMID:
11787037
4.

[Congenital stenosis of the aqueduct of Sylvius transmitted in an autosomal recessive mode (5 cases in 2 families)].

Vanlieferinghen P, Chazal J, Francannet C, Malpuech G, Storme B.

J Genet Hum. 1987 Aug;35(4):251-8. French.

PMID:
3498797
5.

The value of early and comprehensive diagnoses in a human fetus with hydrocephalus and progressive obliteration of the aqueduct of Sylvius: Case Report.

Ortega E, Muñoz RI, Luza N, Guerra F, Guerra M, Vio K, Henzi R, Jaque J, Rodriguez S, McAllister JP, Rodriguez E.

BMC Neurol. 2016 Apr 11;16:45. doi: 10.1186/s12883-016-0566-7.

6.

Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases.

Adle-Biassette H, Saugier-Veber P, Fallet-Bianco C, Delezoide AL, Razavi F, Drouot N, Bazin A, Beaufrère AM, Bessières B, Blesson S, Bucourt M, Carles D, Devisme L, Dijoud F, Fabre B, Fernandez C, Gaillard D, Gonzales M, Jossic F, Joubert M, Laurent N, Leroy B, Loeuillet L, Loget P, Marcorelles P, Martinovic J, Perez MJ, Satge D, Sinico M, Tosi M, Benichou J, Gressens P, Frebourg T, Laquerrière A.

Acta Neuropathol. 2013 Sep;126(3):427-42. doi: 10.1007/s00401-013-1146-1. Epub 2013 Jul 3.

PMID:
23820807
7.

Familial congenital hydrocephalus and aqueduct stenosis with probably autosomal dominant inheritance and variable expression.

Verhagen WI, Bartels RH, Fransen E, van Camp G, Renier WO, Grotenhuis JA.

J Neurol Sci. 1998 Jun 11;158(1):101-5. Review.

PMID:
9667786
8.

Autosomal recessive congenital stenosis of aqueduct of Sylvius.

Barros-Nuñes P, Rivas F.

Genet Couns. 1993;4(1):19-23.

PMID:
8471217
9.

Asymmetric ventriculomegaly, interhemispheric cyst, and dysgenesis of the corpus callosum (AVID): an imaging triad.

Oh KY, Kennedy AM, Selden NR, McLean L, Sohaey R.

J Ultrasound Med. 2012 Nov;31(11):1811-20.

PMID:
23091253
10.

Prenatal exclusion of X-linked hydrocephalus-stenosis of the aqueduct of Sylvius sequence using closely linked DNA markers.

Serville F, Benit P, Saugier P, Vibert M, Royer G, Pelet A, Chery M, Munnich A, Lyonnet S.

Prenat Diagn. 1993 Jun;13(6):435-9.

PMID:
8372068
11.

X-linked recessive inheritance of dysgenesis of corpus callosum in a Chinese family.

Kang WM, Huang CC, Lin SJ.

Am J Med Genet. 1992 Nov 15;44(5):619-23.

PMID:
1481821
12.

A novel L1CAM mutation with L1 spectrum disorders.

Silan F, Ozdemir I, Lissens W.

Prenat Diagn. 2005 Jan;25(1):57-9.

PMID:
15662685
13.

L1 Syndrome.

Stumpel C, Vos YJ.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2004 Apr 28 [updated 2015 Mar 5].

14.

Congenital aqueduct stenosis: Progressive brain findings in utero to birth in the presence of severe hydrocephalus.

Kline-Fath BM, Arroyo MS, Calvo-Garcia MA, Horn PS, Thomas C.

Prenat Diagn. 2018 Aug;38(9):706-712. doi: 10.1002/pd.5317. Epub 2018 Jul 5.

PMID:
29927492
15.

L1CAM mutation in a Japanese family with X-linked hydrocephalus: a study for genetic counseling.

Takahashi S, Makita Y, Okamoto N, Miyamoto A, Oki J.

Brain Dev. 1997 Dec;19(8):559-62.

PMID:
9440802
16.

Autosomal recessive hydrocephalus due to aqueduct stenosis: report of a further family and implications for genetic counselling.

Lapunzina P, Delicado A, de Torres ML, Mor MA, Pérez-Pacheco RF, Lópes PI.

J Matern Fetal Neonatal Med. 2002 Jul;12(1):64-6.

PMID:
12422912
17.

Severe hydrocephalus in L1-deficient mice.

Rolf B, Kutsche M, Bartsch U.

Brain Res. 2001 Feb 9;891(1-2):247-52.

PMID:
11164829
18.

A family study of hydrocephalus resulting from aqueduct stenosis.

Howard FM, Till K, Carter CO.

J Med Genet. 1981 Aug;18(4):252-5.

19.

[X-chromosomal recessive hydrocephalus internus: a separate disease picture? 2 further case reports and review of the literature].

Haverkamp F, Krämer A, Fahnenstich H, Zerres K.

Klin Padiatr. 1996 May-Jun;208(3):93-6. German.

PMID:
8676603
20.

Prenatal diagnosis in a family with X-linked hydrocephalus.

Panayi M, Gokhale D, Mansour S, Elles R.

Prenat Diagn. 2005 Oct;25(10):930-3.

PMID:
16088863

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