(Q58121104)

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18q22.1-qter deletion and 4p16.3 microduplication in a boy with speech delay and mental retardation: case report and review of the literature

scientific article published on 19 October 2018

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30377449%20AND%20SRC:MED&resulttype=core&format=json

1 May 2020

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18q22.1-qter deletion and 4p16.3 microduplication in a boy with speech delay and mental retardation: case report and review of the literature (English)

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Europe PubMed Central

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1 May 2020

molecular medicine

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molecular biology

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inferred from title

6

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1 May 2020

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Chunjing Wang

1

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1 May 2020

Huanhuan Ren

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1 May 2020

Huaifu Dong

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1 May 2020

Meng Liang

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1 May 2020

Qi Wu

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1 May 2020

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19 October 2018

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1 May 2020

Molecular Cytogenetics

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1 May 2020

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1 May 2020

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55

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1 May 2020

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Creative Commons Attribution 4.0 International

19 October 2018

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April 2022 Public Data File from Crossref

copyright status

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https://scigraph.springernature.com/pub.10.1186/1471-2229-13-26

0 references

Consequences of chromsome18q deletions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6194714

30 November 2018

Report of a patient and further clinical and molecular characterization of interstitial 4p16.3 microduplication.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6194714

30 November 2018

DOCK7 interacts with TACC3 to regulate interkinetic nuclear migration and cortical neurogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6194714

30 November 2018

372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6194714

30 November 2018

Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6194714

30 November 2018

A novel 4p16.3 microduplication distal to WHSC1 and WHSC2 characterized by oligonucleotide array with new phenotypic features

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6194714

30 November 2018

Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6194714

30 November 2018

Cytogenetic molecular delineation of a terminal 18q deletion suggesting neo-telomere formation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6194714

30 November 2018

Duplication of the Wolf-Hirschhorn syndrome critical region causes neurodevelopmental delay

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6194714

30 November 2018

A Drosophila mutant of LETM1, a candidate gene for seizures in Wolf-Hirschhorn syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6194714

30 November 2018

Narrowing critical regions and determining penetrance for selected 18q- phenotypes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6194714

30 November 2018

The TACC proteins: TACC-ling microtubule dynamics and centrosome function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6194714

30 November 2018

Genotype–phenotype mapping of chromosome 18q deletions by high-resolution array CGH: An update of the phenotypic map

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6194714

30 November 2018

Spindle regulation in neural precursors of flies and mammals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6194714

30 November 2018

Mitochondrial morphology and distribution in mammalian cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6194714

30 November 2018

Growth hormone benefits children with 18q deletions.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6194714

30 November 2018

The LETM1/YOL027 gene family encodes a factor of the mitochondrial K+ homeostasis with a potential role in the Wolf-Hirschhorn syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6194714

30 November 2018

Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6194714

30 November 2018

The centrosomal protein TACC3 is essential for hematopoietic stem cell function and genetically interfaces with p53-regulated apoptosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6194714

30 November 2018

Congenital anomalies and anthropometry of 42 individuals with deletions of chromosome 18q.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6194714

30 November 2018

Translocations involving 4p16.3 in three families: deletion causing the Pitt-Rogers-Danks syndrome and duplication resulting in a new overgrowth syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6194714

30 November 2018

Magnetic resonance imaging demonstrates incomplete myelination in 18q- syndrome: evidence for myelin basic protein haploinsufficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6194714

30 November 2018

A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6194714

30 November 2018

Clinical manifestations of trisomy 4p syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6194714

30 November 2018

Neurologic manifestations in 18q- syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6194714

30 November 2018

Microarray analysis of unbalanced translocation in Wolf-Hirschhorn syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/30377449

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Segregation of a 4p16.3 duplication with a characteristic appearance, macrocephaly, speech delay and mild intellectual disability in a 3-generation family

1 reference

https://pubmed.ncbi.nlm.nih.gov/30377449

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

4p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: New insights into mechanisms and critical regions

1 reference

https://pubmed.ncbi.nlm.nih.gov/30377449

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/S13039-018-0404-2

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30377449%20AND%20SRC:MED&resulttype=core&format=json

1 May 2020

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30377449%20AND%20SRC:MED&resulttype=core&format=json

1 May 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30377449%20AND%20SRC:MED&resulttype=core&format=json

1 May 2020

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