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Items: 1 to 20 of 113

1.

Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations.

Di Natale P, Balzano N, Esposito S, Villani GR.

Hum Mutat. 1998;11(4):313-20.

PMID:
9554748
2.

Novel mutations in Sanfilippo A syndrome: implications for enzyme function.

Weber B, Guo XH, Wraith JE, Cooper A, Kleijer WJ, Bunge S, Hopwood JJ.

Hum Mol Genet. 1997 Sep;6(9):1573-9.

3.

Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects.

Esposito S, Balzano N, Daniele A, Villani GR, Perkins K, Weber B, Hopwood JJ, Di Natale P.

Biochim Biophys Acta. 2000 Apr 15;1501(1):1-11.

4.

Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B.

Emre S, Terzioglu M, Tokatli A, Coskun T, Ozalp I, Weber B, Hopwood JJ.

Hum Mutat. 2002 Feb;19(2):184-5.

PMID:
11793481
5.

Molecular defects in Sanfilippo syndrome type A.

Blanch L, Weber B, Guo XH, Scott HS, Hopwood JJ.

Hum Mol Genet. 1997 May;6(5):787-91.

6.

Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A).

Bunge S, Ince H, Steglich C, Kleijer WJ, Beck M, Zaremba J, van Diggelen OP, Weber B, Hopwood JJ, Gal A.

Hum Mutat. 1997;10(6):479-85.

PMID:
9401012
7.

Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes.

Weber B, Guo XH, Kleijer WJ, van de Kamp JJ, Poorthuis BJ, Hopwood JJ.

Eur J Hum Genet. 1999 Jan;7(1):34-44.

8.
9.

Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients.

Montfort M, Vilageliu L, Garcia-Giralt N, Guidi S, Coll MJ, Chabás A, Grinberg D.

Hum Mutat. 1998;12(4):274-9.

PMID:
9744479
10.

Expression and functional characterization of human mutant sulfamidase in insect cells.

Montfort M, Garrido E, Hopwood JJ, Grinberg D, Chabás A, Vilageliu L.

Mol Genet Metab. 2004 Nov;83(3):246-51.

PMID:
15542396
11.

Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation.

Chabás A, Montfort M, Martínez-Campos M, Díaz A, Coll MJ, Grinberg D, Vilageliu L.

Am J Med Genet. 2001 May 1;100(3):223-8.

PMID:
11343308
12.

Analysis of Sanfilippo A gene mutations in a large pedigree.

Di Natale P, Villani GR, Di Domenico C, Daniele A, Dionisi Vici C, Bartuli A.

Clin Genet. 2003 Apr;63(4):314-8.

PMID:
12702166
13.

Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome.

Scott HS, Blanch L, Guo XH, Freeman C, Orsborn A, Baker E, Sutherland GR, Morris CP, Hopwood JJ.

Nat Genet. 1995 Dec;11(4):465-7.

PMID:
7493035
14.

Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online.

Fedele AO, Filocamo M, Di Rocco M, Sersale G, Lübke T, di Natale P, Cosma MP, Ballabio A.

Hum Mutat. 2007 May;28(5):523.

PMID:
17397050
16.

Genotype-phenotype correspondence in Sanfilippo syndrome type B.

Zhao HG, Aronovich EL, Whitley CB.

Am J Hum Genet. 1998 Jan;62(1):53-63.

17.
19.

Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations.

Beesley CE, Young EP, Vellodi A, Winchester BG.

J Med Genet. 2000 Sep;37(9):704-7. No abstract available.

20.

The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).

Meyer A, Kossow K, Gal A, Steglich C, Mühlhausen C, Ullrich K, Braulke T, Muschol N.

Hum Mutat. 2008 May;29(5):770. doi: 10.1002/humu.20738.

PMID:
18407553
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