(Q51907616)

17 April 2018

title

Deletion of 8q24 in an adult with mild dysmorphic features, developmental delay, and ketotic hypoglycemia. (English)

1 reference

17 April 2018

1 reference

1 reference

Benjamin D Solomon

1

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17 April 2018

Eileen Lange

2

1 reference

17 April 2018

Jay Shubrook

3

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17 April 2018

F John Service

4

1 reference

17 April 2018

Gail Herman

5

1 reference

17 April 2018

Rajaram J Karne

6

1 reference

17 April 2018

Phillip Gorden

7

1 reference

17 April 2018

Maximilian Muenke

8

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17 April 2018

Constantine A Stratakis

9

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17 April 2018

language of work or name

English

0 references

publication date

1 June 2010

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17 April 2018

American Journal of Medical Genetics

published in

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17 April 2018

volume

152A

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17 April 2018

issue

6

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17 April 2018

page(s)

1545-1549

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17 April 2018

Type XIV Collagen Regulates Fibrillogenesis: PREMATURE COLLAGEN FIBRIL GROWTH AND TISSUE DYSFUNCTION IN NULL MICE.

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914310

The cation efflux transporter ZnT8 (Slc30A8) is a major autoantigen in human type 1 diabetes

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914310

The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the future

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914310

Two isoforms of tissue transglutaminase mediate opposing cellular fates

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914310

Foxo transcription factors induce the atrophy-related ubiquitin ligase atrogin-1 and cause skeletal muscle atrophy

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914310

A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914310

Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914310

Identification of tissue transglutaminase as the autoantigen of celiac disease

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914310

Cloning of human basic A1, a distinct 59-kDa dystrophin-associated protein encoded on chromosome 8q23-24

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914310

Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914310

Further case of microdeletion of 8q24 with phenotype overlapping Langer-Giedion without TRPS1 deletion.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914310

Lysophosphatidylcholine induces neuropathic pain through an action of autotaxin to generate lysophosphatidic acid

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914310

Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914310

Osteoprotegerin deficiency and juvenile Paget's disease

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914310

Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914310

Induction and activation of tissue transglutaminase during programmed cell death

13 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20503333

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/AJMG.A.33395

1 reference

17 April 2018

PMC publication ID

2914310

1 reference

17 April 2018

PubMed publication ID

20503333

1 reference

17 April 2018