(Q36100353)

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Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation

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scholarly article

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Europe PubMed Central

PMC publication ID

12 August 2017

Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation (English)

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Europe PubMed Central

PMC publication ID

12 August 2017

congenital disorder

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Hudson H. Freeze

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Hudson H Freeze

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author name string

Melanie A Jones

1

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Europe PubMed Central

PMC publication ID

12 August 2017

Shruti Bhide

2

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Europe PubMed Central

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12 August 2017

Ephrem Chin

3

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Europe PubMed Central

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12 August 2017

Bobby G Ng

4

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Europe PubMed Central

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12 August 2017

Devin Rhodenizer

5

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Europe PubMed Central

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12 August 2017

Victor W Zhang

6

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Europe PubMed Central

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12 August 2017

Jessica J Sun

7

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Europe PubMed Central

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12 August 2017

Alice Tanner

8

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Europe PubMed Central

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12 August 2017

Madhuri R Hegde

10

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12 August 2017

language of work or name

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publication date

1 November 2011

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Europe PubMed Central

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12 August 2017

Genetics in Medicine

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Europe PubMed Central

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12 August 2017

13

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Europe PubMed Central

PMC publication ID

12 August 2017

11

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Europe PubMed Central

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12 August 2017

921-932

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Europe PubMed Central

PMC publication ID

12 August 2017

https://scigraph.springernature.com/pub.10.1097/gim.0b013e318226fbf2

0 references

Congenital disorders of glycosylation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398737

2 October 2017

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398737

2 October 2017

Next generation sequencing for clinical diagnostics-principles and application to targeted resequencing for hypertrophic cardiomyopathy: a paper from the 2009 William Beaumont Hospital Symposium on Molecular Pathology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398737

2 October 2017

Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398737

2 October 2017

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398737

2 October 2017

Sequencing technologies - the next generation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398737

2 October 2017

Exome sequencing identifies the cause of a mendelian disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398737

2 October 2017

Microdroplet-based PCR enrichment for large-scale targeted sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398737

2 October 2017

Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398737

2 October 2017

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398737

2 October 2017

CDG nomenclature: time for a change!

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398737

2 October 2017

Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398737

2 October 2017

RFT1 deficiency in three novel CDG patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398737

2 October 2017

Targeted capture and massively parallel sequencing of 12 human exomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398737

2 October 2017

Microarray-based multicycle-enrichment of genomic subsets for targeted next-generation sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398737

2 October 2017

Next-generation sequencing: from basic research to diagnostics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398737

2 October 2017

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398737

2 October 2017

Glycosylation diseases: quo vadis?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398737

2 October 2017

Congenital disorders of glycosylation--a challenging group of IEMs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398737

2 October 2017

Screening and diagnosis of congenital disorders of glycosylation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398737

2 October 2017

A rapid mass spectrometric strategy for the characterization of N- and O-glycan chains in the diagnosis of defects in glycan biosynthesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398737

2 October 2017

Congenital disorders of glycosylation: a rapidly expanding disease family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398737

2 October 2017

Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398737

2 October 2017

Genetic defects in the human glycome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398737

2 October 2017

Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398737

2 October 2017

Altered glycan structures: the molecular basis of congenital disorders of glycosylation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398737

2 October 2017

Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398737

2 October 2017

Identification of a frequent variant inALG6, the cause of Congenital Disorder of Glycosylation-Ic

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398737

2 October 2017

Update and perspectives on congenital disorders of glycosylation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398737

2 October 2017

MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398737

2 October 2017

Congenital disorders of glycosylation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398737

2 October 2017

Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrum of the R141H/F119L genotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398737

2 October 2017

Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398737

2 October 2017

Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398737

2 October 2017

Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398737

2 October 2017

Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398737

2 October 2017

Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398737

2 October 2017

On the frequency of protein glycosylation, as deduced from analysis of the SWISS-PROT database

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398737

2 October 2017

Carbohydrate-deficient glycoprotein syndrome type V: deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398737

2 October 2017

Biological roles of oligosaccharides: all of the theories are correct

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398737

2 October 2017

Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398737

2 October 2017

Screening for OST deficiencies in unsolved CDG-I patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398737

2 July 2018

Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398737

2 July 2018

Targeted sequencing with microfluidics.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398737

23 September 2018

On the nomenclature of congenital disorders of glycosylation (CDG).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398737

23 September 2018

Molecular and clinical description of the first US patients with congenital disorder of glycosylation Ig.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398737

23 September 2018

Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG. First International Workshop on CDGS.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398737

23 September 2018

CDG-Id in two siblings with partially different phenotypes

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318226FBF2

21 January 2018

Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318226FBF2

21 January 2018

Targeted comparative genomic hybridization array for the detection of single- and multiexon gene deletions and duplications

1 reference

https://pubmed.ncbi.nlm.nih.gov/21811164

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid determination of transferrin isoforms by immunoaffinity liquid chromatography and electrospray mass spectrometry

1 reference

https://pubmed.ncbi.nlm.nih.gov/21811164

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defective galactosylation of serum transferrin in galactosemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/21811164

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

1 reference

https://pubmed.ncbi.nlm.nih.gov/21811164

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Micro anion exchange chromatography of carbohydrate-deficient transferrin in serum in relation to alcohol consumption (Swedish Patent 8400587-5)

1 reference

https://pubmed.ncbi.nlm.nih.gov/21811164

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Carbohydrate deficient glycoprotein syndrome--like transferrin isoelectric focusing pattern in untreated fructosaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/21811164

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital disorders of glycosylation

1 reference

https://pubmed.ncbi.nlm.nih.gov/21811164

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1097/GIM.0B013E318226FBF2

1 reference

Europe PubMed Central

PMC publication ID

12 August 2017

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PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

12 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

12 August 2017

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