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Items: 1 to 20 of 101

1.

Walker-Warburg syndrome diagnosed by findings of typical ocular abnormalities on prenatal ultrasound.

Brasseur-Daudruy M, Vivier PH, Ickowicz V, Eurin D, Verspyck E.

Pediatr Radiol. 2012 Apr;42(4):488-90. doi: 10.1007/s00247-011-2242-9. Epub 2011 Oct 15.

PMID:
22002842
2.

ISPD gene homozygous deletion identified by SNP array confirms prenatal manifestation of Walker-Warburg syndrome.

Trkova M, Krutilkova V, Smetanova D, Becvarova V, Hlavova E, Jencikova N, Hodacova J, Hnykova L, Hroncova H, Horacek J, Stejskal D.

Eur J Med Genet. 2015 Aug;58(8):372-5. doi: 10.1016/j.ejmg.2015.05.004. Epub 2015 Jun 16.

PMID:
26087224
3.

A case of Walker-Warburg syndrome.

Asano Y, Minagawa K, Okuda A, Matsui T, Ando K, Kondo-Iida E, Kobayashi O, Toda T, Nonaka I, Tanizawa T.

Brain Dev. 2000 Oct;22(7):454-7.

PMID:
11102733
4.

Prenatal diagnosis of Walker-Warburg syndrome in three sibs.

Gasser B, Lindner V, Dreyfus M, Feidt X, Leissner P, Treisser A, Stoll C.

Am J Med Genet. 1998 Mar 5;76(2):107-10.

PMID:
9511971
5.

Walker-Warburg Syndrome: A Case with multiple uncommon features.

Bedri HA, Mustafa BM, Jadallah YM.

Sudan J Paediatr. 2011;11(2):59-63.

6.

Prenatal diagnosis of retinal nonattachment in the Walker-Warburg syndrome.

Chitayat D, Toi A, Babul R, Levin A, Michaud J, Summers A, Rutka J, Blaser S, Becker LE.

Am J Med Genet. 1995 May 8;56(4):351-8.

PMID:
7604843
7.

Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature.

Nabhan MM, ElKhateeb N, Braun DA, Eun S, Saleem SN, YungGee H, Hildebrandt F, Soliman NA.

Am J Med Genet A. 2017 Oct;173(10):2697-2702. doi: 10.1002/ajmg.a.38393. Epub 2017 Aug 17.

PMID:
28815891
8.

Optical Coherence Tomography in an Infant with Walker-Warburg Syndrome.

Mano N, Mitsutsuji T, Yoshikawa Y, Miyamoto M, Watanabe H, Shimizu K, Miki M, Mimura M, Ueki M, Ikeda T.

Case Rep Ophthalmol. 2015 Jun 26;6(2):210-5. doi: 10.1159/000435771. eCollection 2015 May-Aug.

9.

The prenatal diagnosis of the Walker-Warburg syndrome.

Crowe C, Jassani M, Dickerman L.

Prenat Diagn. 1986 May-Jun;6(3):177-85.

PMID:
3523475
10.

Diagnostic criteria for Walker-Warburg syndrome.

Dobyns WB, Pagon RA, Armstrong D, Curry CJ, Greenberg F, Grix A, Holmes LB, Laxova R, Michels VV, Robinow M, et al.

Am J Med Genet. 1989 Feb;32(2):195-210.

PMID:
2494887
11.

Neurosurgical management of Walker-Warburg syndrome.

Martínez-Lage JF, García Santos JM, Poza M, Puche A, Casas C, Rodriguez Costa T.

Childs Nerv Syst. 1995 Mar;11(3):145-53.

PMID:
7773974
12.

Prenatal diagnosis of retinal detachment in Walker-Warburg syndrome.

Farrell SA, Toi A, Leadman ML, Davidson RG, Caco C.

Am J Med Genet. 1987 Nov;28(3):619-24.

PMID:
3122570
13.

Walker-Warburg syndrome: report of three affected sibs.

Rodgers BL, Vanner LV, Pai GS, Sens MA.

Am J Med Genet. 1994 Jan 15;49(2):198-201.

PMID:
8116667
14.

Prenatal sonographic diagnosis of retinal nonattachment.

Shen O, Zuckerman S, Cohen P, Rabinowitz R.

J Ultrasound Med. 2014 Jun;33(6):1095-7. doi: 10.7863/ultra.33.6.1095. No abstract available.

PMID:
24866619
15.

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.

van Reeuwijk J, Janssen M, van den Elzen C, Beltran-Valero de Bernabé D, Sabatelli P, Merlini L, Boon M, Scheffer H, Brockington M, Muntoni F, Huynen MA, Verrips A, Walsh CA, Barth PG, Brunner HG, van Bokhoven H.

J Med Genet. 2005 Dec;42(12):907-12. Epub 2005 May 13.

16.

160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome.

Czeschik JC, Hehr U, Hartmann B, Lüdecke HJ, Rosenbaum T, Schweiger B, Wieczorek D.

Eur J Med Genet. 2013 Dec;56(12):689-94. doi: 10.1016/j.ejmg.2013.09.014. Epub 2013 Oct 10.

PMID:
24120487
17.

Prenatal Diagnosis of Persistent Hyperplastic Primary Vitreous: Report of 2 Cases and Review of the Literature.

Esmer AC, Sivrikoz TS, Gulec EY, Sezer S, Kalelioglu I, Has R, Yuksel A.

J Ultrasound Med. 2016 Oct;35(10):2285-91. doi: 10.7863/ultra.15.11040. Epub 2016 Aug 31. Review.

PMID:
27582535
18.

First-trimester ultrasound diagnosis in a recurrent case of Walker-Warburg syndrome.

Blin G, Rabbé A, Ansquer Y, Meghdiche S, Floch-Tudal C, Mandelbrot L.

Ultrasound Obstet Gynecol. 2005 Sep;26(3):297-9.

19.

A case of Walker-Warburg syndrome resulting from a homozygous POMT1 mutation.

Yis U, Uyanik G, Kurul S, Dirik E, Ozer E, Gross C, Hehr U.

Eur J Paediatr Neurol. 2007 Jan;11(1):46-9. Epub 2006 Dec 11.

PMID:
17161965
20.

Noncompaction cardiomyopathy in an infant with Walker-Warburg syndrome.

Abdullah S, Hawkins C, Wilson G, Yoon G, Mertens L, Carter MT, Guerin A.

Am J Med Genet A. 2017 Nov;173(11):3082-3086. doi: 10.1002/ajmg.a.38394. Epub 2017 Oct 5.

PMID:
28980384

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