(Q35693912)

English

Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).

scientific article published on 9 April 2015

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scholarly article

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5 March 2020

Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT) (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25859010%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

retinitis pigmentosa

1 reference

based on heuristic

inferred from title

mucopolysaccharidosis type IIIC

1 reference

based on heuristic

inferred from title

Lonneke Haer-Wigman

1

1 reference

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5 March 2020

Susanne Roosing

9

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5 March 2020

14

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Dror Sharon

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5 March 2020

13

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Noam Shomron

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5 March 2020

author name string

Hadas Newman

2

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5 March 2020

Rina Leibu

3

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5 March 2020

Nathalie M Bax

4

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5 March 2020

Hagit N Baris

5

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5 March 2020

Leah Rizel

6

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5 March 2020

Eyal Banin

7

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5 March 2020

Amir Massarweh

8

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5 March 2020

Dirk J Lefeber

10

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5 March 2020

Marijke N Zonneveld-Vrieling

11

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5 March 2020

Ofer Isakov

12

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5 March 2020

Anneke I Den Hollander

15

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5 March 2020

Carel B Hoyng

16

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5 March 2020

Frans P M Cremers

17

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5 March 2020

Tamar Ben-Yosef

18

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5 March 2020

language of work or name

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publication date

9 April 2015

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5 March 2020

Human Molecular Genetics

1 reference

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5 March 2020

24

1 reference

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5 March 2020

3742-3751

1 reference

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5 March 2020

13

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25859010%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4459392

27 July 2018

Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4459392

27 July 2018

A general framework for estimating the relative pathogenicity of human genetic variants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4459392

27 July 2018

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4459392

27 July 2018

Cole Disease Results from Mutations in ENPP1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4459392

27 July 2018

Overview of the mucopolysaccharidoses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4459392

27 July 2018

ISCEV standard for clinical multifocal electroretinography (mfERG) (2011 edition).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4459392

27 July 2018

Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4459392

27 July 2018

A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4459392

27 July 2018

Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4459392

27 July 2018

Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4459392

27 July 2018

Retinitis pigmentosa and allied conditions today: a paradigm of translational research

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4459392

27 July 2018

A method and server for predicting damaging missense mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4459392

27 July 2018

Molecular characterization of retinitis pigmentosa in Saudi Arabia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4459392

27 July 2018

Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4459392

27 July 2018

Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4459392

27 July 2018

Sanfilippo syndrome: a mini-review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4459392

27 July 2018

Retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4459392

27 July 2018

Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4459392

27 July 2018

Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4459392

27 July 2018

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4459392

27 July 2018

Mucopolysaccharidoses and the eye.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4459392

27 July 2018

Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4459392

27 July 2018

A simple and efficient non-organic procedure for the isolation of genomic DNA from blood

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4459392

27 July 2018

Measuring urinary glycosaminoglycans in the presence of protein: an improved screening procedure for mucopolysaccharidoses based on dimethylmethylene blue.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4459392

27 July 2018

Sanfilippo type C disease: Clinical findings in four patients with a new variant of mucopolysaccharidosis III

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4459392

27 July 2018

Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4459392

25 September 2018

MutationTaster2: mutation prediction for the deep-sequencing age.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4459392

25 September 2018

BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4459392

25 September 2018

Diagnostic exome sequencing in persons with severe intellectual disability

1 reference

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25 September 2018

A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4459392

25 September 2018

Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4459392

25 September 2018

Electroretinographic and clinicopathologic correlations of retinal dysfunction in infantile neuronal ceroid lipofuscinosis (infantile Batten disease).

1 reference

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25 September 2018

Electronegative electroretinogram in mucolipidosis IV.

1 reference

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25 September 2018

A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease C (MPS III C)

1 reference

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adult-onset dementia and retinitis pigmentosa due to mucopolysaccharidosis III-C in two sisters

1 reference

https://pubmed.ncbi.nlm.nih.gov/25859010

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Negative ERGs in mucopolysaccharidoses (MPS) Hurler–Scheie (I-H/S) and Hurler (I-H)-syndromes

1 reference

https://pubmed.ncbi.nlm.nih.gov/25859010

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/HMG/DDV118

1 reference

Europe PubMed Central

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5 March 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25859010%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25859010%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

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