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Items: 1 to 20 of 152

1.

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
2.

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
3.

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
4.

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
5.

An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene.

Gabrielli O, Coppa GV, Bruni S, Villani GR, Pontarelli G, Di Natale P.

Am J Med Genet A. 2005 Feb 15;133A(1):85-9.

PMID:
15637719
6.

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
7.

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
8.

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.

PMID:
9285796
9.
10.

Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome.

Muschol N, Pohl S, Meyer A, Gal A, Ullrich K, Braulke T.

Am J Med Genet A. 2011 Jul;155A(7):1634-9. doi: 10.1002/ajmg.a.34053. Epub 2011 Jun 10.

PMID:
21671382
11.

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
12.

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
13.

Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS Gene.

Jansen AC, Cao H, Kaplan P, Silver K, Leonard G, De Meirleir L, Lissens W, Liebaers I, Veilleux M, Andermann F, Hegele RA, Andermann E.

Arch Neurol. 2007 Nov;64(11):1629-34.

PMID:
17998446
14.

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
15.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
16.

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.

PMID:
9158154
17.

Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.

Valstar MJ, Neijs S, Bruggenwirth HT, Olmer R, Ruijter GJ, Wevers RA, van Diggelen OP, Poorthuis BJ, Halley DJ, Wijburg FA.

Ann Neurol. 2010 Dec;68(6):876-87. doi: 10.1002/ana.22092.

PMID:
21061399
18.

Genotype-phenotype correspondence in Sanfilippo syndrome type B.

Zhao HG, Aronovich EL, Whitley CB.

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

20.

Identification and characterization of mutations underlying Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA).

Lee-Chen GJ, Lin SP, Ko MH, Chuang CK, Chen CP, Lee HH, Cheng SC, Shen CH, Tseng KL, Li CL.

Clin Genet. 2002 Mar;61(3):192-7.

PMID:
12000360

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