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Items: 1 to 20 of 170

1.

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
2.

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
3.

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
4.

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.

5.

Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula.

Mangas M, Nogueira C, Prata MJ, Lacerda L, Coll MJ, Soares G, Ribeiro G, Amaral O, Ferreira C, Alves C, Coutinho MF, Alves S.

Clin Genet. 2008 Mar;73(3):251-6. doi: 10.1111/j.1399-0004.2007.00951.x. Epub 2008 Jan 23.

PMID:
18218046
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.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

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

PMID:
19728970
8.

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
9.

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
10.

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
11.

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.

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.

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.

Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations.

Bunge S, Knigge A, Steglich C, Kleijer WJ, van Diggelen OP, Beck M, Gal A.

J Med Genet. 1999 Jan;36(1):28-31.

16.

Novel and recurrent tyrosine aminotransferase gene mutations in tyrosinemia type II.

Hühn R, Stoermer H, Klingele B, Bausch E, Fois A, Farnetani M, Di Rocco M, Boué J, Kirk JM, Coleman R, Scherer G.

Hum Genet. 1998 Mar;102(3):305-13.

PMID:
9544843
17.

Evidence of a founder effect for four cathepsin C gene mutations in Papillon-Lefèvre syndrome patients.

Zhang Y, Lundgren T, Renvert S, Tatakis DN, Firatli E, Uygur C, Hart PS, Gorry MC, Marks JJ, Hart TC.

J Med Genet. 2001 Feb;38(2):96-101.

18.

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
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