Bunge S - Search Results

1

Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome).

Bunge S, Steglich C, Beck M, Rosenkranz W, Schwinger E, Hopwood JJ, Gal A. Bunge S, et al. Hum Mol Genet. 1992 Aug;1(5):335-9. doi: 10.1093/hmg/1.5.335. Hum Mol Genet. 1992. PMID: 1303211

2

Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene.

Bunge S, Kleijer WJ, Steglich C, Beck M, Schwinger E, Gal A. Bunge S, et al. Hum Mutat. 1995;6(1):91-4. doi: 10.1002/humu.1380060119. Hum Mutat. 1995. PMID: 7550242 No abstract available.

3

Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome).

Popowska E, Rathmann M, Tylki-Szymanska A, Bunge S, Steglich C, Schwinger E, Gal A. Popowska E, et al. Among authors: bunge s. Hum Mutat. 1995;5(1):97-100. doi: 10.1002/humu.1380050114. Hum Mutat. 1995. PMID: 7728156 No abstract available.

4

Evidence for an iduronate-sulfatase pseudogene near the functional Hunter syndrome gene in Xq27.3-q28.

Rathmann M, Bunge S, Steglich C, Schwinger E, Gal A. Rathmann M, et al. Among authors: bunge s. Hum Genet. 1995 Jan;95(1):34-8. doi: 10.1007/BF00225070. Hum Genet. 1995. PMID: 7814022

5

Prenatal diagnosis and carrier detection in mucopolysaccharidosis type II by mutation analysis. A 47,XXY male heterozygous for a missense point mutation.

Bunge S, Steglich C, Lorenz P, Beck M, Xu S, Hopwood JJ, Gal A. Bunge S, et al. Prenat Diagn. 1994 Sep;14(9):777-80. doi: 10.1002/pd.1970140902. Prenat Diagn. 1994. PMID: 7845883

6

Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients.

Bunge S, Kleijer WJ, Steglich C, Beck M, Zuther C, Morris CP, Schwinger E, Hopwood JJ, Scott HS, Gal A. Bunge S, et al. Hum Mol Genet. 1994 Jun;3(6):861-6. doi: 10.1093/hmg/3.6.861. Hum Mol Genet. 1994. PMID: 7951228

7

Molecular analysis in patients with mucopolysaccharidosis type II suggests that DXS466 maps within the Hunter gene.

Steglich C, Bunge S, Hulsebos T, Beck M, Brandt NJ, Schwinger E, Hopwood JJ, Gal A. Steglich C, et al. Among authors: bunge s. Hum Genet. 1993 Sep;92(2):179-82. doi: 10.1007/BF00219688. Hum Genet. 1993. PMID: 8103756

8

Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene.

Hopwood JJ, Bunge S, Morris CP, Wilson PJ, Steglich C, Beck M, Schwinger E, Gal A. Hopwood JJ, et al. Among authors: bunge s. Hum Mutat. 1993;2(6):435-42. doi: 10.1002/humu.1380020603. Hum Mutat. 1993. PMID: 8111411 Review.

9

Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome).

Bunge S, Steglich C, Zuther C, Beck M, Morris CP, Schwinger E, Schinzel A, Hopwood JJ, Gal A. Bunge S, et al. Hum Mol Genet. 1993 Nov;2(11):1871-5. doi: 10.1093/hmg/2.11.1871. Hum Mol Genet. 1993. PMID: 8281149

10

Mucopolysaccharidosis type II (Hunter syndrome): mutation "hot spots" in the iduronate-2-sulfatase gene.

Rathmann M, Bunge S, Beck M, Kresse H, Tylki-Szymanska A, Gal A. Rathmann M, et al. Among authors: bunge s. Am J Hum Genet. 1996 Dec;59(6):1202-9. Am J Hum Genet. 1996. PMID: 8940265 Free PMC article.

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