(Q35603624)

9 August 2017

A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions (English)

1 reference

9 August 2017

13

Dag E Undlien

1 reference

9 August 2017

Kaja K Selmer

1

1 reference

9 August 2017

Gregor D Gilfillan

2

1 reference

9 August 2017

Petter Strømme

3

1 reference

9 August 2017

Robert Lyle

4

1 reference

9 August 2017

Timothy Hughes

5

1 reference

9 August 2017

Hanne S Hjorthaug

6

1 reference

9 August 2017

Kristin Brandal

7

1 reference

9 August 2017

Sigve Nakken

8

1 reference

9 August 2017

Doriana Misceo

9

1 reference

9 August 2017

Thore Egeland

10

1 reference

9 August 2017

Ludvig A Munthe

11

1 reference

9 August 2017

Sigrun K Braekken

12

1 reference

9 August 2017

29 June 2011

1 reference

European Journal of Human Genetics

9 August 2017

1 reference

9 August 2017

20

1 reference

9 August 2017

1

1 reference

9 August 2017

58-63

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2011.126

9 August 2017

0 references

cites work

Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234502

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234502

Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234502

Evaluation of oligonucleotide sequence capture arrays and comparison of next-generation sequencing platforms for use in molecular diagnostics.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234502

Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234502

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234502

Target-enrichment strategies for next-generation sequencing

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234502

Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234502

Chromatin profiling by directly sequencing small quantities of immunoprecipitated DNA.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234502

Exome sequencing identifies the cause of a mendelian disorder

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234502

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234502

SNPnexus: a web database for functional annotation of newly discovered and public domain single nucleotide polymorphisms.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234502

Mapping short DNA sequencing reads and calling variants using mapping quality scores

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234502

Structural and mechanistic insight into the basis of mucopolysaccharidosis IIIB

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234502

Sanfilippo syndrome: a mini-review

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234502

PEDSTATS: descriptive statistics, graphics and quality assessment for gene mapping data

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234502

Parallel genotyping of over 10,000 SNPs using a one-primer assay on a high-density oligonucleotide array

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234502

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234502

Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234502

Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234502

Genotype-phenotype correspondence in Sanfilippo syndrome type B.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234502

The molecular basis of Sanfilippo syndrome type B

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234502

Algorithms for large-scale genotyping microarrays

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234502

25 September 2018

Identifiers

DOI

10.1038/EJHG.2011.126

1 reference

Dimensions Publication ID

9 August 2017

0 references

1 reference

9 August 2017

1 reference