Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG. (Q38043952)

27 August 2017

title

Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG. (English)

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27 August 2017

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Gert Matthijs

1

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27 August 2017

Daisy Rymen

2

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27 August 2017

María Beatriz Bistué Millón

3

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27 August 2017

Erika Souche

4

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27 August 2017

Valérie Race

5

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27 August 2017

publication date

15 September 2012

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27 August 2017

published in

Glycoconjugate Journal

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27 August 2017

volume

30

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27 August 2017

issue

1

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27 August 2017

page(s)

67-76

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Sequencing technologies - the next generation

27 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Performance comparison of exome DNA sequencing technologies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Diseases of glycosylation beyond classical congenital disorders of glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Exome sequencing: dual role as a discovery and diagnostic tool

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Revisiting Mendelian disorders through exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Massively parallel sequencing and rare disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Human genome sequencing in health and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Exome sequencing as a tool for Mendelian disease gene discovery

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Disease gene identification strategies for exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Screening for OST deficiencies in unsolved CDG-I patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Human RFT1 deficiency leads to a disorder of N-linked glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Golgi function and dysfunction in the first COG4-deficient CDG type II patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

TMEM165 deficiency causes a congenital disorder of glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Exome sequencing makes medical genomics a reality

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Research network: EUROGLYCANET: a European network focused on congenital disorders of glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Identification of a human homolog of the Drosophila rotated abdomen gene (POMT1) encoding a putative protein O-mannosyl-transferase, and assignment to human chromosome 9q34.1

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10719-012-9445-7

Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development

21 January 2018

1 reference

12 December 2020

Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406

1 reference

12 December 2020

The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter

1 reference

12 December 2020

Next-generation sequencing entering the clinical arena

1 reference

12 December 2020

10.1007/S10719-012-9445-7

Identifiers

DOI

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Dimensions Publication ID

27 August 2017

1008700035

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