Germline and somatic mosaicism in a female carrier of Hunter disease (Q33678433)

28 July 2017

title

Germline and somatic mosaicism in a female carrier of Hunter disease (English)

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28 July 2017

Froissart R

1

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28 July 2017

Maire I

2

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28 July 2017

Bonnet V

3

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28 July 2017

Levade T

4

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28 July 2017

Bozon D

5

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28 July 2017

language of work or name

English

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publication date

1 February 1997

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Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

34

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28 July 2017

issue

2

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28 July 2017

page(s)

137-140

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

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050868

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050868

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050868

Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050868

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050868

Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mut

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050868

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050868

A new DNA marker tightly linked to the fragile X locus (FRAXA).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050868

Mosaicism and sporadic haemophilia: implications for carrier determination

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050868

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050868

Somatic origin of inherited haemophilia A.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050868

Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050868

New distal marker closely linked to the fragile X locus

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050868

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050868

Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050868

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050868

X-linked Hunter syndrome: the heterozygous phenotype in cell culture

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050868

α-l-Iduronidase, β-d-glucuronidase, and 2-sulfo-l-iduronate 2-sulfutase: preparation and characterization of radioactive substrates from heparin

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050868

Iduronate sulfatase analysis of hair roots for identification of Hunter syndrome heterozygotes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050868

Germline mosaicism in a female who seemed to be a carrier by sequence analysis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050868

Dinucleotide repeat polymorphism close to IDS gene in Xq27.3-q28 (DXS1113).

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050868

Determination of the organisation of coding sequences within the iduronate sulphate sulphatase (IDS) gene

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050868

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

30 October 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

New informative polymorphism at the DXS304 locus, a close distal marker for the fragile X locus

1 reference

12 December 2020

Germinal ?mosaicism? ? germline mutation or chimerism?

1 reference

12 December 2020

Somatic mosaicism for a deletion of the dystrophin gene in a carrier of Becker muscular dystrophy

1 reference

12 December 2020

Gene diagnosis and carrier detection in Hunter syndrome by the iduronate-2-sulphatase cDNA probe

1 reference

12 December 2020

Hunter syndrome: gene deletions and rearrangements

1 reference

12 December 2020

Combined enzymatic and linkage analysis for heterozygote detection in Hunter syndrome: identification of an apparent case of germinal mosaicism

1 reference

12 December 2020

Germline and somatic mosaicism in a female carrier of Duchenne muscular dystrophy

1 reference

12 December 2020

Iduronate sulfatase from human plasma

1 reference

12 December 2020

The prezygotic origin of structural mosaicisms

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12 December 2020

Mutation analysis in 20 patients with Hunter disease

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.34.2.137

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28 July 2017

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28 July 2017

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