| 1 | MPS2, IDS
|
| Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome).
|
| Martin R, Beck M, Eng C, Giugliani R, Harmatz P, Mu–oz V, Muenzer J.
|
| Pediatrics 121(2):e377-86. Review. 2008
|
| 2 | MPS2, IDS
|
| Initial report from the Hunter Outcome Survey.
|
| Wraith JE, Beck M, Giugliani R, Clarke J, Martin R, Muenzer J; on behalf of the HOS Investigators.
|
| Genet Med enet Med. 2008 Jun 18. [Epub ahead of print] 2008
|
| 3 | MPS2, IDS
|
| Mucopolysaccharidosis type II: an update on mutation spectrum.
|
| Froissart R, Da Silva IM, Maire I.
|
| Acta Paediatr Suppl 96(455):71-7. Review. 2007
|
| 4 | IDS, MPS2
|
| Characterization of a novel p.S305P and a known c.1006+5G>C splice site mutation in human iduronate-2-sulfatase associated with mucopolysaccharidosis type II.
|
| Chang JH, Lee-Chen GJ, Lin SP, Chuang CK.
|
| Clin Chim Acta 384(1-2):167-70. Epub 2007 Jun 28. No abstract available.
2007
|
| 5 | MPS2, IDS
|
| Expression studies of mutations underlying Taiwanese Hunter syndrome (mucopolysaccharidosis type II).
|
| Chang JH, Lin SP, Lin SC, Tseng KL, Li CL, Chuang CK, Lee-Chen GJ.
|
| Hum Genet 116(3):160-6. Epub 2004 Dec 22. 2005
|
| 6 | MPS2, IDS
|
| Mucopolysaccharidosis type II in females: case report and review of literature.
|
| Tuschl K, Gal A, Paschke E, Kircher S, Bodamer OA.
|
| Pediatr Neurol 32(4):270-2. Review. 2005
|
| 7 | IDS, MPS2
|
| Analysis of normal and mutant iduronate-2-sulphatase conformation.
|
| Parkinson-Lawrence E, Turner C, Hopwood J, Brooks D.
|
| Biochem J 386(Pt 2):395-400.
2005
|
| 8 | IDS, MPS2
|
| An Alu-mediated rearrangement as cause of exon skipping in Hunter disease.
|
| Ricci V, Regis S, Di Duca M, Filocamo M.
|
| Hum Genet 112(4):419-25. Epub 2003 Feb 11. 2003
|
| 9 | IDS, IDSCR, MPS2
|
| Analysis of a 43.6 kb deletion in a patient with Hunter syndrome (MPSII): identification of a fusion transcript including sequences from the gene W and the IDS gene.
|
| Lagerstedt K, Carlberg BM, Karimi-Nejad R, Kleijer WJ, Bondeson ML.
|
| Hum Mutat 15(4):324-31. 2000
|
| 10 | IDS, MPS2
|
| Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome).
|
| Li P, Bellows AB, Thompson JN.
|
| J Med Genet 36 : 21-27. 1999
|
| 11 | IDS, MPS2
|
| Mucopolysaccharidosis type II: identification of six novel mutations in Italian patients.
|
| Villani GR, Balzano N, Grosso M, Salvatore F, Izzo P, Di Natale P.
|
| Hum Mutat 10(1):71-5. 1997
|
| 12 | IDS, MPS2
|
| Characterization of iduronate sulphatase mutants affecting N-glycosylation sites and the cysteine-84 residue.
|
| Millat G, Froissart R, Maire I, Bozon D.
|
| Biochem J 326 ( Pt 1):243-7.
1997
|
| 13 | IDS, MPS2
|
| Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome.
|
| Olsen TC, et al.
|
| Hum Genet 97 : 198-203. 1996
|
| 14 | IDS, MPS2
|
| Two new nonsense mutations (Q80X; Q389X) in patients with severe Hunter syndrome (mucopolysaccharidosis type II).
|
| Carrozzo R, et al.
|
| Hum Mutat 7 : 184. 1996
|
| 15 | IDS, FMR1, MPS2
|
| A 5-megabase familial deletion removes the IDS and FMR-1 genes in a male Hunter patient
|
| Birot AM, et al.
|
| Hum Mutat 7 : 266-268. 1996
|
| 16 | IDS, MPS2
|
| Mutation analysis in 20 patients with Hunter disease.
|
| Leistner Goldenfum S, et al.
|
| Hum Mutat 7 : 76-78. 1996
|
| 17 | IDS, MPS2
|
| Mucopolysaccharidosis type II (Hunter syndrome) : mutation hot spots in the iduronate-2-sulfatase gene.
|
| Rathmann M, et al.
|
| Am J Hum Genet 59 : 1202-1209. 1996
|
| 18 | IDS, MPS2
|
| Mutations of the iduronate-2-Sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome).
|
| Popowska E, et al.
|
| Hum Mutat 5 : 97-100. 1995
|
| 19 | IDS, MPS2
|
| Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation : toward mutation mapping of the iduronate-2-sulfatase gene.
|
| Jonsson JJ, et al.
|
| Am J Hum Genet 56 : 597-607. 1995
|
| 20 | IDS, IDSP1, MPS2
|
| Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome.
|
| Bondeson ML, et al.
|
| Hum Mol Genet 4 : 615-621. 1995
|
| 21 | IDS, MPS2
|
| Mucopolysaccharidosis type II (Hunter disease) : identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients.
|
| Sukegawa K, et al.
|
| Hum Mutat 6 : 136-143. 1995
|
| 22 | IDS, MPS2
|
| Mutations of the Iduronate-2-Sulfatase (IDS) gene in patients with Hunter syndrome (mucopolysaccharidosis II).
|
| Schršder W, et al.
|
| Hum Mutat 4 : 128-131. 1994
|
| 23 | MPS2
|
| Carrier detection of Hunter syndrome (MPS II) by biochemical and DNA techniques in families at risk.
|
| Schršder W, et al.
|
| J Med Genet 30 : 210-213. 1993
|
| 24 | MPS2, IDS
|
| Molecular basis of mucopolysaccharidosis type II : mutations in the iduronate-2-sulphatase gene.
|
| Hopwood JJ, et al.
|
| Hum Mutat 2 : 435-442. 1993
|
| 25 | IDS, MPS2
|
| Hunter syndrome : gene deletions and rearrangements.
|
| Froissart R, et al.
|
| Hum Mutat 2 : 138-140. 1993
|
| 26 | MPS2, IDS
|
| An 8-bp deletion in exon B of the iduronate-2-sulphate sulphatase gene in a case of Hunter disease.
|
| Goldenfum S, et al.
|
| Hum Mol Genet 2 : 1063-1065. 1993
|
| 27 | IDS, MPS2
|
| Caveat to genotype-phenotype correlation in mucopolysaccharidosis type II : discordant clinical severity of R468W and R468Q mutations of the iduronate-2-sulfatase gene.
|
| Whitley CB, et al.
|
| Hum Mutat 2 : 235-237. 1993
|
| 28 | IDS, MPS2
|
| The iduronate sulfatase gene : isolation of a 1.2-Mb YAC contig spanning the entire gene and identification of heterogeneous deletions in patients with Hunter syndrome.
|
| Palmieri G, et al.
|
| Genomics 12 : 52-57. 1992
|
| 29 | IDS, MPS2
|
| Structural gene aberrations in mucopolysaccharidosis II (Hunter).
|
| Wehnert M, et al.
|
| Hum Genet 89 : 430-432. 1992
|
| 30 | IDS, MPS2
|
| Detection of point mutations and a gross deletion in six Hunter syndrome patients.
|
| Flomen RH, et al.
|
| Genomics 13 : 543-550. 1992
|
| 31 | IDS, MPS2
|
| Molecular analysis of patients with Hunter syndrome : implication of a region prone to structural alterations within the IDS gene.
|
| SteŽn-Bondeson ML, et al.
|
| Hum Mol Genet 1 : 195-198. 1992
|
| 32 | IDS, MPS2
|
| Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression.
|
| Crotty PL, et al.
|
| Hum Mol Genet 1 : 755-757. 1992
|
| 33 | MPS2
|
| Female twin with Hunter disease due to nonrandom inactivation of the X-chromosome : a consequence of twinning.
|
| Winchester B, et al.
|
| Am J Med Genet 44 : 834-838. 1992
|
| 34 | IDS, MPS2
|
| Characterization of a deletion at Xq27-q28 associated with unbalanced inactivation of the nonmutant X chromosome.
|
| Clarke JTR, et al.
|
| Am J Hum Genet 51 : 316-322. 1992
|
| 35 | IDS, MPS2
|
| The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II - Hunter syndrome).
|
| Wraith JE, et al.
|
| Hum Genet 87 : 205-206. 1991
|
| 36 | IDS, MPS2
|
| Hunter disease (mucopolysaccharidosis type II) associated with unbalanced inactivation of the X chromosomes in a karyotypically normal girl.
|
| Clarke JTR, et al.
|
| Am J Hum Genet 49 : 289-297. 1991
|
| 37 | IDS, MPS2
|
| Molecular aberration in patients of iduronate-2-sulphate-sulphatase defect (MPS II, Hunter).
|
| Herrmann FH, et al.
|
| (HGM11) Cytogenet Cell Genet 58 : 2066. 1991
|
| 38 | IDS, MPS2
|
| Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome.
|
| Wilson PJ, et al.
|
| Hum Genet 86 : 505-508. 1991
|
| 39 | IDS, MPS2
|
| Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA.
|
| Wilson PJ, et al.
|
| Proc Natl Acad Sci U S A 87 : 8531-8535. 1990
|
| 40 | IDS, MPS2
|
| Genetics of Hunter syndrome : carrier detection, new mutations, segregation and linkage analysis.
|
| Chase DS, et al.
|
| Ann Hum Genet 50 : 349-360. 1986
|
| 41 | IDS, MPS2
|
| Hunter's disease in a girl: association with X:5 chromosomal translocation disrupting the Hunter gene.
|
| Mossman LM, et al.
|
| Arch Dis Child 58 : 911-915. 1983
|