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Results: 16

1.

Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.

Currier SC, Lee CK, Chang BS, Bodell AL, Pai GS, Job L, Lagae LG, Al-Gazali LI, Eyaid WM, Enns G, Dobyns WB, Walsh CA.

Am J Med Genet A. 2005 Feb 15;133A(1):53-7.

PMID:
15637732
[PubMed - indexed for MEDLINE]
2.

Glyc-O-genetics of Walker-Warburg syndrome.

van Reeuwijk J, Brunner HG, van Bokhoven H.

Clin Genet. 2005 Apr;67(4):281-9. Review.

PMID:
15733261
[PubMed - indexed for MEDLINE]
3.

Walker-Warburg syndrome.

Vajsar J, Schachter H.

Orphanet J Rare Dis. 2006 Aug 3;1:29. Review.

PMID:
16887026
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Expression and localization of fukutin, POMGnT1, and POMT1 in the central nervous system: consideration for functions of fukutin.

Yamamoto T, Kato Y, Kawaguchi M, Shibata N, Kobayashi M.

Med Electron Microsc. 2004 Dec;37(4):200-7. Review.

PMID:
15614444
[PubMed - indexed for MEDLINE]
5.

[Recent progress, genetic diagnosis and its problem on congenital muscular dystrophies (Fukuyama and non-Fukuyama types)].

Toda T.

Rinsho Shinkeigaku. 1995 Dec;35(12):1419-21. Review. Japanese.

PMID:
8752416
[PubMed - indexed for MEDLINE]
6.

Broader clinical spectrum of Fukuyama-type congenital muscular dystrophy manifested by haplotype analysis.

Yoshioka M, Toda T, Kuroki S, Hamano K.

J Child Neurol. 1999 Nov;14(11):711-5. Review.

PMID:
10593547
[PubMed - indexed for MEDLINE]
7.

[Walker-Warburg syndrome: experience at the Virgen de la Arrixaca Hospital].

Fernández Martínez MD, Rodríguez Sánchez F, Martínez-Lage Sánchez JF, Rodríguez Costa T, Puche Miras A, Casas Fernández C, Almagro Navarro MJ.

An Esp Pediatr. 1992 Mar;36(3):213-7. Review. Spanish.

PMID:
1580433
[PubMed - indexed for MEDLINE]
8.

[Recent advances in congenital muscular dystrophy research].

Nonaka I.

No To Hattatsu. 2005 Mar;37(2):115-21. Review. Japanese.

PMID:
15773323
[PubMed - indexed for MEDLINE]
9.

Walker-Warburg syndrome. Report of two cases.

Vasconcelos MM, Guedes CR, Domingues RC, Vianna RN, Sotero M, Vieira MM.

Arq Neuropsiquiatr. 1999 Sep;57(3A):672-7. Review.

PMID:
10667295
[PubMed - indexed for MEDLINE]
10.

FG syndrome: linkage analysis in two families supporting a new gene localization at Xp22.3 [FGS3].

Dessay S, Moizard MP, Gilardi JL, Opitz JM, Middleton-Price H, Pembrey M, Moraine C, Briault S.

Am J Med Genet. 2002 Sep 15;112(1):6-11. Review.

PMID:
12239712
[PubMed - indexed for MEDLINE]
11.

[Walker-Warburg syndrome(WWS)].

Hayashi YK.

Ryoikibetsu Shokogun Shirizu. 2001;(35):107-8. Review. Japanese. No abstract available.

PMID:
11555882
[PubMed - indexed for MEDLINE]
12.

[Defective O-mannosyl glycosylation causes congenital muscular dystrophies].

Manya H, Endo T.

Tanpakushitsu Kakusan Koso. 2004 Nov;49(15 Suppl):2451-6. Review. Japanese. No abstract available.

PMID:
15553000
[PubMed - indexed for MEDLINE]
13.

Wolcott-Rallison syndrome: pathogenic insights into neonatal diabetes from new mutation and expression studies of EIF2AK3.

Brickwood S, Bonthron DT, Al-Gazali LI, Piper K, Hearn T, Wilson DI, Hanley NA.

J Med Genet. 2003 Sep;40(9):685-9. Review. No abstract available.

PMID:
12960215
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

[LGMD2H].

Matsumura K.

Ryoikibetsu Shokogun Shirizu. 2001;(35):96. Review. Japanese. No abstract available.

PMID:
11556001
[PubMed - indexed for MEDLINE]
15.

[Walker-Warburg syndrome].

Hayashi T, Ichiyama T, Furukawa S.

Ryoikibetsu Shokogun Shirizu. 2000;(28 Pt 3):450-3. Review. Japanese. No abstract available.

PMID:
11043292
[PubMed - indexed for MEDLINE]
16.

[Walker-Warburg syndrome].

Sugie H.

Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):804-5. Review. Japanese. No abstract available.

PMID:
11529032
[PubMed - indexed for MEDLINE]

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