(Q40256605)

English

Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165.

scientific article published on 22 August 2012

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23430531%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

0 references

Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165 (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23430531%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

congenital disorder

0 references

1 reference

based on heuristic

inferred from title

congenital disorder

1 reference

based on heuristic

inferred from title

congenital disorder of glycosylation

1 reference

based on heuristic

inferred from title

Domenico Garozzo

4

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23430531%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

author name string

R Zeevaert

1

1 reference

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24 February 2020

F de Zegher

2

1 reference

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24 February 2020

L Sturiale

3

1 reference

Europe PubMed Central

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24 February 2020

M Smet

5

1 reference

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24 February 2020

M Moens

6

1 reference

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24 February 2020

G Matthijs

7

1 reference

Europe PubMed Central

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24 February 2020

J Jaeken

8

1 reference

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24 February 2020

publication date

22 August 2012

1 reference

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24 February 2020

Journal of Inherited Metabolic Disorders Reports

1 reference

Europe PubMed Central

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24 February 2020

8

1 reference

Europe PubMed Central

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24 February 2020

145-152

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23430531%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

TMEM165 deficiency causes a congenital disorder of glycosylation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565624

22 September 2017

Diseases of glycosylation beyond classical 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=3565624

22 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565624

22 September 2017

Faulty initiation of proteoglycan synthesis causes cardiac and joint defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565624

22 September 2017

Congenital disorders of glycosylation (CDG): it's (nearly) all in it!

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565624

22 September 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=3565624

22 September 2017

Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565624

22 September 2017

Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565624

22 September 2017

Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565624

22 September 2017

COG defects, birth and rise!

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565624

22 September 2017

Familial tumoral calcinosis and the role of O-glycosylation in the maintenance of phosphate homeostasis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565624

22 September 2017

Multiplexed glycoproteomic analysis of glycosylation disorders by sequential yolk immunoglobulins immunoseparation and MALDI-TOF MS.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565624

22 September 2017

The skeletal manifestations of the 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=3565624

22 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565624

22 September 2017

Deficiencies in subunits of the Conserved Oligomeric Golgi (COG) complex define a novel group 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=3565624

22 September 2017

Defective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin fibroblasts of an Ehlers-Danlos syndrome patient carrying the novel Arg270Cys substitution in galactosyltransferase I (beta4GalT-7)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565624

22 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565624

22 September 2017

Analysis of acidic oligosaccharides and glycopeptides by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565624

22 September 2017

Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565624

17 June 2018

Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565624

20 August 2018

Nosology and classification of genetic skeletal disorders: 2010 revision.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565624

20 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565624

20 August 2018

Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565624

20 August 2018

Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565624

20 August 2018

Chondroitin beta-1,4-N-acetylgalactosaminyltransferase-1 missense mutations are associated with neuropathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/23430531

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel mutation in FGFR-3 disrupts a putative N-glycosylation site and results in hypochondroplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/23430531

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Carbohydrate-deficient glycoprotein syndrome type I: a new cause of dysostosis multiplex

1 reference

https://pubmed.ncbi.nlm.nih.gov/23430531

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia

1 reference

https://pubmed.ncbi.nlm.nih.gov/23430531

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/8904_2012_172

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23430531%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23430531%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23430531%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

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