AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis (Q28975784)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27811305%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

title

AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27811305%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

main subject

AMMECR nuclear protein 1

1 reference

GOA release 2020-03-11

author

Katherine L Lachlan

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27811305%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Rodney D. Gilbert

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27811305%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

author name string

Gaia Andreoletti

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27811305%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Ita O'Kelly

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27811305%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Sarah Ennis

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27811305%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Eleanor G Seaby

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27811305%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Jennifer M Dewing

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27811305%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

language of work or name

English

0 references

publication date

3 November 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27811305%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

26 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27811305%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

volume

54

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27811305%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

page(s)

269-277

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27811305%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27811305%20AND%20SRC:MED&resulttype=core&format=json

Exome sequencing explained: a practical guide to its clinical application

26 March 2020

cites work

1 reference

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3 June 2018

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3 June 2018

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3 June 2018

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3 June 2018

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3 June 2018

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3 June 2018

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3 June 2018

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Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes

3 June 2018

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3 June 2018

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A method and server for predicting damaging missense mutations

3 June 2018

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Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays

3 June 2018

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Detection of nonneutral substitution rates on mammalian phylogenies

3 June 2018

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The Sequence Alignment/Map format and SAMtools

3 June 2018

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A novel role for PA28gamma-proteasome in nuclear speckle organization and SR protein trafficking

3 June 2018

1 reference

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Protein degradation by the ubiquitin-proteasome pathway in normal and disease states

3 June 2018

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The nuclear ubiquitin-proteasome system

3 June 2018

1 reference

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Dent Disease with mutations in OCRL1

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5502304

STRING: known and predicted protein-protein associations, integrated and transferred across organisms

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5502304

Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR).

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5502304

FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5502304

dbSNP: the NCBI database of genetic variation

3 June 2018

1 reference

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Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5502304

Identification of mutations in the COL4A5 collagen gene in Alport syndrome

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5502304

Construction and validation of the Alberta Infant Motor Scale (AIMS)

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5502304

N-glycosylation-dependent control of functional expression of background potassium channels K2P3.1 and K2P9.1.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5502304

Array-CGH in unclear syndromic nephropathies identifies a microdeletion in Xq22.3-q23.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5502304

X-linked recessive nephritis with mental retardation, sensorineural hearing loss, and macrocephaly.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5502304

Intellectual disability, midface hypoplasia, facial hypotonia, and Alport syndrome are associated with a deletion in Xq22.3.

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27811305

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Xq22.3-q23 deletion including ACSL4 in a patient with intellectual disability

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27811305

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMEDGENET-2016-104100

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27811305%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27811305%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

1 reference