(Q38249605)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25223253%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

review article

1 reference

title

Detecting somatic mosaicism: considerations and clinical implications (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25223253%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

0 references

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25223253%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Xin Cynthia Ye

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25223253%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

author name string

A S A Cohen

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25223253%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

J Trinh

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25223253%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

language of work or name

English

0 references

publication date

7 October 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25223253%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25223253%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

volume

87

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25223253%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25223253%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

page(s)

554-562

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25223253%20AND%20SRC:MED&resulttype=core&format=json

A genomic view of mosaicism and human disease

16 February 2020

cites work

1 reference

Blood group chimerism in human multiple births is not rare

21 January 2018

1 reference

Genetics. Genome mosaicism--one human, multiple genomes

21 January 2018

1 reference

Somatic mosaicism in healthy human tissues

21 January 2018

1 reference

Somatic mosaicism and disease.

21 January 2018

1 reference

Somatic point mutations occurring early in development: a monozygotic twin study.

21 January 2018

1 reference

X-chromosome inactivation: counting, choice and initiation

21 January 2018

1 reference

The normal human female as a mosaic of X-chromosome activity: studies using the gene for C-6-PD-deficiency as a marker

21 January 2018

1 reference

Mechanisms and consequences of somatic mosaicism in humans

21 January 2018

1 reference

Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin

21 January 2018

1 reference

Two genetic hits (more or less) to cancer

21 January 2018

1 reference

Recent advances in the study of somatic mosaicism and diseases other than cancer

21 January 2018

1 reference

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

21 January 2018

1 reference

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

21 January 2018

1 reference

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

21 January 2018

1 reference

Neurofibromatosis type 2.

21 January 2018

1 reference

High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene

21 January 2018

1 reference

Somatic gene mutation and human disease other than cancer: an update

21 January 2018

1 reference

Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA

21 January 2018

1 reference

Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis.

21 January 2018

1 reference

Autosomal aneuploidy in mice: generation and developmental consequences

21 January 2018

1 reference

Aneuploidy affects proliferation and spontaneous immortalization in mammalian cells

21 January 2018

1 reference

Human aneuploidy: mechanisms and new insights into an age-old problem

21 January 2018

1 reference

Molecular basis of maternal age-related increase in oocyte aneuploidy

21 January 2018

1 reference

New insights on the origin and relevance of aneuploidy in human spermatozoa

21 January 2018

1 reference

Epigenetics and assisted reproductive technology: a call for investigation

21 January 2018

1 reference

The mechanism of double-strand DNA break repair by the nonhomologous DNA end-joining pathway

21 January 2018

1 reference

Mechanisms of chromosomal instability.

21 January 2018

1 reference

21 January 2018

1 reference

The Bloom's syndrome gene product is homologous to RecQ helicases

21 January 2018

1 reference

Back mutation can produce phenotype reversion in Bloom syndrome somatic cells

21 January 2018

1 reference

Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion

21 January 2018

1 reference

Revertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation

21 January 2018

1 reference

21 January 2018

1 reference

Two trisomy 22 live births in one hospital in 15 months: is it as rare as we thought?

21 January 2018

1 reference

To err (meiotically) is human: the genesis of human aneuploidy

21 January 2018

1 reference

Full monosomy 21: echocardiographic findings in the third molecularly confirmed case

21 January 2018

1 reference

Complete monosomy mosaic of chromosome 21: case report and review of literature

21 January 2018

1 reference

In vivo reversion to normal of inherited mutations in humans

21 January 2018

1 reference

The impact of chromosomal alteration on embryo development

21 January 2018

1 reference

Self-induced correction of the genetic defect in tyrosinemia type I

21 January 2018

1 reference

Somatic cell genetics of adenosine deaminase expression and severe combined immunodeficiency disease in humans

21 January 2018

1 reference

Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark

21 January 2018

1 reference

21 January 2018

1 reference

SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype.

21 January 2018

1 reference

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

21 January 2018

1 reference

Next-generation DNA sequencing

21 January 2018

1 reference

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

21 January 2018

1 reference

Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

21 January 2018

1 reference

Exome sequencing identifies the cause of a mendelian disorder

21 January 2018

1 reference

Mutations in EZH2 cause Weaver syndrome

21 January 2018

1 reference

Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ

21 January 2018

1 reference

Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome

21 January 2018

1 reference

Computational tools for prioritizing candidate genes: boosting disease gene discovery

21 January 2018

1 reference

Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data

21 January 2018

1 reference

Computational approaches to identify functional genetic variants in cancer genomes

21 January 2018

1 reference

Parallel sequencing used in detection of mosaic mutations: comparison with four diagnostic DNA screening techniques.

21 January 2018

1 reference

Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex

21 January 2018

1 reference

The next-generation sequencing revolution and its impact on genomics

21 January 2018

1 reference

Cellular heterogeneity in tumours

21 January 2018

1 reference

Intra-tumour heterogeneity: a looking glass for cancer?

21 January 2018

1 reference

The phenotype of persons having mosaicism for trisomy 21/Down syndrome reflects the percentage of trisomic cells present in different tissues.

21 January 2018

1 reference

Mosaic mongolism. II. Cytogenic studies.

21 January 2018

1 reference

Rethinking the prosaicism of mosaicism; is it in us?

21 January 2018

1 reference

X chromosome loss and ageing

21 January 2018

1 reference

Functional sperm testing and the role of proteomics in the evaluation of male infertility

21 January 2018

1 reference

Review: A high capacity of the human placenta for genetic and epigenetic variation: implications for assessing pregnancy outcome

21 January 2018

1 reference

Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA).

21 January 2018

1 reference

Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly

21 January 2018

1 reference

Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.12502

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25223253%20AND%20SRC:MED&resulttype=core&format=json

release_kvihfloar5hftcyxrbn46twhpi

16 February 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/kvihfloar5hftcyxrbn46twhpi

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25223253%20AND%20SRC:MED&resulttype=core&format=json