(Q37598586)

English

A case of 17q21.31 microduplication and 7q31.33 microdeletion, associated with developmental delay, microcephaly, and mild dysmorphic features.

scientific article published on 04 February 2014

A case of 17q21.31 microduplication and 7q31.33 microdeletion, associated with developmental delay, microcephaly, and mild dysmorphic features

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scholarly article

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24649381%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

A case of 17q21.31 microduplication and 7q31.33 microdeletion, associated with developmental delay, microcephaly, and mild dysmorphic features (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24649381%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

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Adrian Mc Cormack

1

1 reference

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11 March 2020

4

object named as

Donald R Love

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11 March 2020

author name string

Juliet Taylor

2

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11 March 2020

Leah Te Weehi

3

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11 March 2020

Alice M George

5

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11 March 2020

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4 February 2014

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11 March 2020

Case reports in genetics

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11 March 2020

2014

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Europe PubMed Central

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11 March 2020

658570

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11 March 2020

copyright license

Creative Commons Attribution 3.0 Unported

1 January 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

1 reference

April 2022 Public Data File from Crossref

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1 reference

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Recurrent inversion events at 17q21.31 microdeletion locus are linked to the MAPT H2 haplotype

1 reference

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Evolutionary toggling of the MAPT 17q21.31 inversion region

1 reference

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1 reference

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A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features

1 reference

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Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

1 reference

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A human protein complex homologous to the Drosophila MSL complex is responsible for the majority of histone H4 acetylation at lysine 16

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23 August 2017

Microduplication and triplication of 22q11.2: a highly variable syndrome

1 reference

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Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration

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A common inversion under selection in Europeans

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Hotspots of homologous recombination in the human genome: not all homologous sequences are equal

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3932285

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alpha-Synuclein locus triplication causes Parkinson's disease

1 reference

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A polymorphic gene nested within an intron of the tau gene: implications for Alzheimer's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3932285

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Tau pathology: a marker of neurodegenerative disorders.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3932285

23 August 2017

Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3932285

23 August 2017

The human metabotropic glutamate receptor 8 (GRM8) gene: a disproportionately large gene located at 7q31.3-q32.1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3932285

23 August 2017

Dependence of intrachromosomal recombination in mammalian cells on uninterrupted homology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3932285

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1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3932285

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3932285

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Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3932285

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Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.

1 reference

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1 reference

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1 reference

https://pubmed.ncbi.nlm.nih.gov/24649381

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genomic and clinical characteristics of microduplications in chromosome 17

1 reference

https://pubmed.ncbi.nlm.nih.gov/24649381

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1155/2014/658570

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24649381%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24649381%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24649381%20AND%20SRC:MED&resulttype=core&format=json

11 March 2020

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