(Q34560216)

3 August 2017

0 references

A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS Locus (English)

1 reference

3 August 2017

Alessandra Zanetti

1

1 reference

3 August 2017

Rosella Tomanin

2

1 reference

3 August 2017

Angelica Rampazzo

3

1 reference

3 August 2017

Chiara Rigon

4

1 reference

3 August 2017

Nicoletta Gasparotto

5

1 reference

3 August 2017

Matteo Cassina

6

1 reference

3 August 2017

Maurizio Clementi

7

1 reference

3 August 2017

Maurizio Scarpa

8

1 reference

3 August 2017

25 July 2014

1 reference

Journal of Inherited Metabolic Disorders Reports

3 August 2017

1 reference

3 August 2017

17

1 reference

3 August 2017

13-21

1 reference

Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database.

3 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241202

The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensus

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241202

A three-step workflow procedure for the interpretation of array-based comparative genome hybridization results in patients with idiopathic mental retardation and congenital anomalies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241202

Multidisciplinary management of Hunter syndrome.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241202

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241202

Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome).

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241202

Gene duplication: a drive for phenotypic diversity and cause of human disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241202

Detection of large-scale variation in the human genome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241202

Molecular and phenotypic variation in patients with severe Hunter syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241202

Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241202

Hunter disease (mucopolysaccharidosis type II) in a karyotypically normal girl.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241202

Characterization of a deletion at Xq27-q28 associated with unbalanced inactivation of the nonmutant X chromosome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241202

Deletion of the Hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type II

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241202

Severe Hunter syndrome (mucopolysaccharidosis II) phenotype secondary to large deletion in the X chromosome encompassing IDS, FMR1, and AFF2 (FMR2).

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241202

Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241202

Clinical and molecular cytogenetic characterization of two patients with non-mutational aberrations of the FMR2 gene.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241202

Characterization of iduronate-2-sulfatase gene-pseudogene recombinations in eight patients with Mucopolysaccharidosis type II revealed by a rapid PCR-based method.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241202

A 5-megabase familial deletion removes the IDS and FMR-1 genes in a male Hunter patient.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241202

Severe phenotype in MPS II patients associated with a large deletion including contiguous genes

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25059704

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

High frequency of MAGE-A4 and MAGE-A9 expression in high-risk bladder cancer

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25059704

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25059704

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/8904_2014_317

1 reference

3 August 2017

1 reference

3 August 2017

1 reference