Unrevealed mosaicism in the next-generation sequencing era (Q26781758)

20 June 2019

30 June 2019

14 September 2019

19 September 2019

9 October 2019

12 October 2019

Mechanisms and consequences of somatic mosaicism in humans

8 December 2020

0 references

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4819561

Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4819561

Mosaic epigenetic dysregulation of ectodermal cells in autism spectrum disorder

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4819561

Somatic mutations found in the healthy blood compartment of a 115-yr-old woman demonstrate oligoclonal hematopoiesis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4819561

Sensitive and specific detection of mosaic chromosomal abnormalities using the Parent-of-Origin-based Detection (POD) method

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4819561

Chromosomal variation in lymphoblastoid cell lines

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4819561

Revertant mosaicism in skin: natural gene therapy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4819561

Low-level constitutional mosaicism of a de novoBRCA1 gene mutation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4819561

Pallister-Killian syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4819561

Epigenetic germline mosaicism in infertile men.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4819561

Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4819561

Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4819561

Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4819561

Somatic mutations in cerebral cortical malformations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4819561

Clinical utility of chromosomal microarray analysis of DNA from buccal cells: detection of mosaicism in three patients

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4819561

Low-grade chromosomal mosaicism in human somatic and embryonic stem cell populations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4819561

The origin, mechanisms, incidence and clinical consequences of chromosomal mosaicism in humans

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4819561

Mosaic copy number variation in human neurons

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4819561

Genetics. Genome mosaicism--one human, multiple genomes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4819561

NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4819561

Intermediate phenotypes in patients with autosomal dominant hyper-IgE syndrome caused by somatic mosaicism

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4819561

Clinical impact of somatic mosaicism in cases with small supernumerary marker chromosomes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4819561

Chromosomal microarray versus karyotyping for prenatal diagnosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4819561

Next-generation sequencing of human mitochondrial reference genomes uncovers high heteroplasmy frequency

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4819561

Revertant mosaicism in heritable skin diseases: mechanisms of natural gene therapy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4819561

A new approach for detecting low-level mutations in next-generation sequence data

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4819561

Small supernumerary marker chromosomes and uniparental disomy have a story to tell

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4819561

Cell-free nucleic acids as biomarkers in cancer patients

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4819561

Somatic mosaicism in healthy human tissues

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4819561

Multiplex ligation-depending probe amplification is not suitable for detection of low-grade mosaicism

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4819561

Somatic mosaicism in the Wiskott-Aldrich syndrome: molecular and functional characterization of genotypic revertants

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4819561

Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4819561

Unexpected complexity at breakpoint junctions in phenotypically normal individuals and mechanisms involved in generating balanced translocations t(1;22)(p36;q13)

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4819561

Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4819561

Monosomy 1p36 deletion syndrome.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4819561

Retrospective birth dating of cells in humans

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4819561

Genome dynamics in aging mice

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4819561

Clonal evolution in human lymphoblast cultures

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4819561

Comparison of high resolution melting analysis, pyrosequencing, next generation sequencing and immunohistochemistry to conventional Sanger sequencing for the detection of p.V600E and non-p.V600E BRAF mutations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4819561

Detecting heteroplasmy from high-throughput sequencing of complete human mitochondrial DNA genomes

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4819561

Mutation rate of normal and malignant human lymphocytes.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4819561

Hidden mutations in Cornelia de Lange syndrome limitations of sanger sequencing in molecular diagnostics.

31 May 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00438-015-1130-7

Detailed FISH analysis of day 5 human embryos reveals the mechanisms leading to mosaic aneuploidy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00438-015-1130-7

A further case with a small supernumerary marker chromosome (sSMC) derived from chromosome 1--evidence for high variability in mosaicism in different tissues of sSMC carriers

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00438-015-1130-7

Disease-causing mitochondrial heteroplasmy segregated within induced pluripotent stem cell clones derived from a patient with MELAS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00438-015-1130-7

Identification of cryptic imbalance in phenotypically normal and abnormal translocation carriers.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00438-015-1130-7

Clinical and molecular cytogenetic characterization of four patients with unbalanced translocation der(1)t(1;22)(p36;q13).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00438-015-1130-7

Revertant mosaicism--patchwork in the skin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00438-015-1130-7

Recurrence risks for different pregnancy outcomes and meiotic segregation analysis of spermatozoa in carriers of t(1;11)(p36.22;q12.2).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00438-015-1130-7

Somatic mosaicism for chromosome X and Y aneuploidies in monozygotic twins heterozygous for sickle cell disease mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00438-015-1130-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00438-015-1130-7

aCGH detects partial tetrasomy of 12p in blood from Pallister-Killian syndrome cases without invasive skin biopsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00438-015-1130-7

L1 retrotransposition can occur early in human embryonic development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00438-015-1130-7

Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00438-015-1130-7

Deep sequencing detects very-low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00438-015-1130-7

Benefits and burdens of using a SNP array in pregnancies at increased risk for the common aneuploidies

21 January 2018

1 reference

12 December 2020

Buccal swabs but not mouthwash samples can be used to obtain pretransplant DNA fingerprints from recipients of allogeneic bone marrow transplants

1 reference

12 December 2020

Chromosomal mosaicism throughout human preimplantation development in vitro: incidence, type, and relevance to embryo outcome

1 reference

12 December 2020

Anaphase lagging mainly explains chromosomal mosaicism in human preimplantation embryos

1 reference

12 December 2020

Mosaic trisomy 9 syndrome with unusual phenotype

1 reference

12 December 2020

Trisomy 8 mosaicism syndrome. Two cases demonstrating variability in phenotype

1 reference

12 December 2020

Characterization of a complex rearrangement with interstitial deletions and inversion on human chromosome 1

1 reference

12 December 2020

Detection of low-level mosaicism by array CGH in routine diagnostic specimens

1 reference

12 December 2020

Recurrent interstitial 1p36 deletions: Evidence for germline mosaicism and complex rearrangement breakpoints

1 reference

12 December 2020

Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes

1 reference

12 December 2020

10.1007/S00438-015-1130-7

Identifiers

DOI

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/6pyg2iumefhjfdb6mbg3ytgiqm

30 July 2022

Dimensions Publication ID

1027316967

0 references

Fatcat ID

release_6pyg2iumefhjfdb6mbg3ytgiqm

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/6pyg2iumefhjfdb6mbg3ytgiqm

30 July 2022

OpenCitations bibliographic resource ID

3127184

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

https://api.fatcat.wiki/v0/release/6pyg2iumefhjfdb6mbg3ytgiqm

30 July 2022

https://api.fatcat.wiki/v0/release/6pyg2iumefhjfdb6mbg3ytgiqm

PubMed publication ID

1 reference

30 July 2022