(Q89108999)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29904178%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

title

The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29904178%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

1 reference

social networking service

1 reference

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29904178%20AND%20SRC:MED&resulttype=core&format=json

Conny M A van Ravenswaaij-Arts

31 March 2020

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29904178%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

author name string

Aafke Engwerda

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29904178%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Barbara Frentz

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29904178%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

A Lya den Ouden

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29904178%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Boudien C T Flapper

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29904178%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Erica H Gerkes

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29904178%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Mirjam Plantinga

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29904178%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Trijnie Dijkhuizen

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29904178%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

publication date

8 June 2018

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29904178%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

31 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29904178%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

volume

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29904178%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

issue

10

1 reference

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31 March 2020

page(s)

1478-1489

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29904178%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

31 March 2020

copyright license

start time

8 June 2018

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

New insights into the phenotypes of 6q deletions

1 reference

https://api.crossref.org/works/10.1038%2FS41431-018-0172-9

7 January 2021

European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities.

1 reference

https://api.crossref.org/works/10.1038%2FS41431-018-0172-9

7 January 2021

Social networking sites: a novel portal for communication

1 reference

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7 January 2021

The MOLGENIS toolkit: rapid prototyping of biosoftware at the push of a button

1 reference

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7 January 2021

Characterising and predicting haploinsufficiency in the human genome.

1 reference

https://api.crossref.org/works/10.1038%2FS41431-018-0172-9

7 January 2021

Analysis of protein-coding genetic variation in 60,706 humans

1 reference

https://api.crossref.org/works/10.1038%2FS41431-018-0172-9

7 January 2021

A 6q14.1-q15 microdeletion in a male patient with severe autistic disorder, lack of oral language, and dysmorphic features with concomitant presence of a maternally inherited Xp22.31 copy number gain

1 reference

https://api.crossref.org/works/10.1038%2FS41431-018-0172-9

7 January 2021

Genome-wide mapping of copy number variations in patients with both anorectal malformations and central nervous system abnormalities

1 reference

https://api.crossref.org/works/10.1038%2FS41431-018-0172-9

7 January 2021

Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14.

1 reference

https://api.crossref.org/works/10.1038%2FS41431-018-0172-9

7 January 2021

Mechanism and Genotype-Phenotype Correlation of Two Proximal 6q Deletions Characterized Using mBAND, FISH, Array CGH, and DNA Sequencing

1 reference

https://api.crossref.org/works/10.1038%2FS41431-018-0172-9

7 January 2021

Molecular breakpoint mapping of 6q11-q14 interstitial deletions in seven patients

1 reference

https://api.crossref.org/works/10.1038%2FS41431-018-0172-9

7 January 2021

A de novo proximal 6q deletion confirmed by array comparative genomic hybridization

1 reference

https://api.crossref.org/works/10.1038%2FS41431-018-0172-9

7 January 2021

Interstitial Deletions at 6q14.1-q15 Associated with Obesity, Developmental Delay and a Distinct Clinical Phenotype

1 reference

https://api.crossref.org/works/10.1038%2FS41431-018-0172-9

7 January 2021

Description of a child with a 6q14.1-q16.1 interstitial deletion: A very rare entity with airway manifestations

1 reference

https://api.crossref.org/works/10.1038%2FS41431-018-0172-9

7 January 2021

Characterization of an interstitial deletion 6q13-q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms.

1 reference

https://api.crossref.org/works/10.1038%2FS41431-018-0172-9

7 January 2021

A maternal de novo non-reciprocal translocation results in a 6q13-q16 deletion in one offspring and a 6q13-q16 duplication in another.

1 reference

https://api.crossref.org/works/10.1038%2FS41431-018-0172-9

7 January 2021

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

1 reference

https://api.crossref.org/works/10.1038%2FS41431-018-0172-9

7 January 2021

De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature.

1 reference

https://api.crossref.org/works/10.1038%2FS41431-018-0172-9

7 January 2021

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy

1 reference

https://api.crossref.org/works/10.1038%2FS41431-018-0172-9

7 January 2021

De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features

1 reference

https://api.crossref.org/works/10.1038%2FS41431-018-0172-9

7 January 2021

Diagnostic exome sequencing in persons with severe intellectual disability

1 reference

https://api.crossref.org/works/10.1038%2FS41431-018-0172-9

7 January 2021

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

1 reference

https://api.crossref.org/works/10.1038%2FS41431-018-0172-9

7 January 2021

Akirin2 is essential for the formation of the cerebral cortex

1 reference

https://api.crossref.org/works/10.1038%2FS41431-018-0172-9

7 January 2021

EphA/ephrin-A signaling is critically involved in region-specific apoptosis during early brain development

1 reference

https://api.crossref.org/works/10.1038%2FS41431-018-0172-9

7 January 2021

A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1.

1 reference

https://api.crossref.org/works/10.1038%2FS41431-018-0172-9

7 January 2021

De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder

1 reference

https://api.crossref.org/works/10.1038%2FS41431-018-0172-9

7 January 2021

Excess of rare, inherited truncating mutations in autism

1 reference

https://api.crossref.org/works/10.1038%2FS41431-018-0172-9

7 January 2021

De novo genic mutations among a Chinese autism spectrum disorder cohort.

1 reference

https://api.crossref.org/works/10.1038%2FS41431-018-0172-9

7 January 2021

Molecular cloning of a serotonin receptor from human brain (5HT1E): a fifth 5HT1-like subtype

1 reference

https://api.crossref.org/works/10.1038%2FS41431-018-0172-9

7 January 2021

HTR1B and HTR2C in autism spectrum disorders in Brazilian families

1 reference

https://api.crossref.org/works/10.1038%2FS41431-018-0172-9

7 January 2021

Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome

1 reference

https://api.crossref.org/works/10.1038%2FS41431-018-0172-9

7 January 2021

Novel and functional variants within the TBX18 gene promoter in ventricular septal defects

1 reference

https://api.crossref.org/works/10.1038%2FS41431-018-0172-9

7 January 2021

Interstitial deletions at 6q14.1q15 associated with developmental delay and a marfanoid phenotype

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29904178

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1038/S41431-018-0172-9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29904178%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29904178%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

PubMed publication ID

29904178

1 reference