(Q50335678)

5 March 2018

title

Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients (English)

1 reference

5 March 2018

author name string

R. Froissart

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:9660053

30 December 2024

I. Maire

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:9660053

30 December 2024

G. Millat

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:9660053

30 December 2024

S. Cudry

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:9660053

30 December 2024

A. M. Birot

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:9660053

30 December 2024

V. Bonnet

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:9660053

30 December 2024

O. Bouton

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:9660053

30 December 2024

D. Bozon

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:9660053

30 December 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9660053

30 December 2024

publication date

1 May 1998

1 reference

5 March 2018

May 1998

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9660053

full work available at URL

30 December 2024

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111/j.1399-0004.1998.tb02746.x

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1998.TB02746.X

https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1399-0004.1998.tb02746.x

30 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1998.TB02746.X

30 December 2024

1 reference

5 March 2018

volume

53

1 reference

5 March 2018

issue

5

1 reference

5 March 2018

page(s)

362-368

1 reference

5 March 2018

Detection of four novel mutations in the iduronate-2-sulphatase gene by single-strand conformation polymorphism analysis of genomic amplicons

cites work

1 reference

9 November 2024

https://opencitations.net/index/api/v1/citations/10.1007/BF01799358

Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA

2

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1998.TB02746.X

Sequence of the human iduronate 2-sulfatase (IDS) gene

30 December 2024

3

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1998.TB02746.X

Presence of an IDS-related locus (IDS2) in Xq28 complicates the mutational analysis of Hunter syndrome.

30 December 2024

4

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1998.TB02746.X

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

30 December 2024

5

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1998.TB02746.X

130 kb of DNA sequence reveals two new genes and a regional duplication distal to the human iduronate-2-sulfate sulfatase locus

30 December 2024

6

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1998.TB02746.X

Mutation analysis in 20 patients with Hunter disease

30 December 2024

7

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1998.TB02746.X

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

30 December 2024

8

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1998.TB02746.X

Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome

30 December 2024

9

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1998.TB02746.X

Germline and somatic mosaicism in a female carrier of Hunter disease

30 December 2024

11

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1998.TB02746.X

Hunter syndrome: gene deletions and rearrangements

30 December 2024

12

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1998.TB02746.X

IDS gene-pseudogene exchange responsible for an intragenic deletion in a Hunter patient

30 December 2024

14

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1998.TB02746.X

Inversion of the IDS gene resulting from recombination with IDS-related sequences in a common cause of the Hunter syndrome

30 December 2024

15

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1998.TB02746.X

Double-strand breaks may initiate the inversion mutation causing the Hunter syndrome.

30 December 2024

16

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1998.TB02746.X

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

30 December 2024

17

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1998.TB02746.X

Two Distinct Deletions in theIDSGene and the GeneW: A Novel Type of Mutation Associated with the Hunter Syndrome

30 December 2024

18

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1998.TB02746.X

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

30 December 2024

19

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1998.TB02746.X

Exon definition may facilitate splice site selection in RNAs with multiple exons

30 December 2024

20

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1998.TB02746.X

Invariant exon skipping in the human α-galactosidase A pre-mRNA: A g 1 to t substitution in a 5′-splice site causing Fabry disease

30 December 2024

21

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1998.TB02746.X

Characterization of iduronate sulphatase mutants affecting N-glycosylation sites and the cysteine-84 residue

30 December 2024

22

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1998.TB02746.X

Mucopolysaccharidosis type II (Hunter disease): Identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients

30 December 2024

23

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1998.TB02746.X

Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression

30 December 2024

24

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1998.TB02746.X

Processing of iduronate 2-sulphatase in human fibroblasts

30 December 2024

26

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1998.TB02746.X

IDS transfer from overexpressing cells to IDS-deficient cells

30 December 2024

27

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1998.TB02746.X

A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy

30 December 2024

28

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1998.TB02746.X

A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency

30 December 2024

29

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1998.TB02746.X

Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations

30 December 2024

30

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1998.TB02746.X

Mosaicism and sporadic haemophilia: implications for carrier determination

30 December 2024

31

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1998.TB02746.X

Identification of a point mutation and germinal mosaicism in a Duchenne muscular dystrophy family

30 December 2024

32

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1998.TB02746.X

On the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletions arise in oogenesis and most point mutations result from events in spermatogenesis

30 December 2024

33

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1998.TB02746.X

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

30 December 2024

35

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1998.TB02746.X

Detection of point mutations and a gross deletion in six Hunter Syndrome patients

30 December 2024

36

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1998.TB02746.X

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

30 December 2024

38

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1998.TB02746.X

Intermediate form of mucopolysaccharidosis type II (Hunter disease): a C1327 to T substitution in the iduronate sulfatase gene

30 December 2024

39

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1998.TB02746.X

Mutations of the iduronate-2-sulfatase (IDS) gene in patients with Hunter syndrome (mucopolysaccharidosis II)

30 December 2024

40

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1998.TB02746.X

Mutations of the iduronate-2-sulfatase gene on a T146T background in three patients with Hunter syndrome

30 December 2024

41

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1998.TB02746.X

Mucopolysaccharidosis type II: Identification of six novel mutations in Italian patients

30 December 2024

42

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1998.TB02746.X

Caveat to genotype-phenotype correlation in mucopolysaccharidosis type II: discordant clinical severity of R468W and R468Q mutations of the iduronate-2-sulfatase gene

30 December 2024

43

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1998.TB02746.X

30 December 2024

Identifiers

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9660053

30 December 2024

1 reference

5 March 2018