Piecing together the problems in diagnosing low-level chromosomal mosaicism (Q34073503)

30 July 2017

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Piecing together the problems in diagnosing low-level chromosomal mosaicism (English)

1 reference

30 July 2017

Joris Robert Vermeesch

2 references

30 July 2017

ORCID Public Data File 2021

Jean-Pierre Fryns

series ordinal

object named as

Jean-Pierre Fryns

1 reference

30 July 2017

Caroline Robberecht

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30 July 2017

language of work or name

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29 July 2010

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30 July 2017

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30 July 2017

1 reference

30 July 2017

1 reference

30 July 2017

1 reference

Aneuploidy and confined chromosomal mosaicism in the developing human brain.

30 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923739

Aneuploidy in the normal and diseased brain.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923739

Visualization of interphase chromosomes in postmitotic cells of the human brain by multicolour banding (MCB).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923739

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923739

Array comparative genomic hybridization and its applications in cancer

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923739

Comparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriages

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923739

Chromosome aberrations in solid tumors

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923739

Genomic microarrays in human genetic disease and cancer

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923739

Mechanisms and consequences of somatic mosaicism in humans

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923739

Asymmetry and skin pigmentary anomalies in chromosome mosaicism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923739

The characteristic physiognomy and tissue specific karyotype distribution in the Pallister-Killian syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923739

Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister-Killian syndrome): report of 11 cases

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923739

Pallister-Killian syndrome: cytogenetic and molecular studies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923739

Exclusion of chromosomal mosaicism: tables of 90%, 95% and 99% confidence limits and comments on use

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923739

Detection of low-level mosaicism and placental mosaicism by oligonucleotide array comparative genomic hybridization.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923739

Chromosome instability is common in human cleavage-stage embryos.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923739

Low-level mosaicism of trisomy 14: phenotypic and molecular characterization.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923739

The schizophrenia brain exhibits low-level aneuploidy involving chromosome 1.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923739

Mosaic X chromosome aneuploidy can help to explain the male-to-female ratio in autism

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923739

Unexplained autism is frequently associated with low-level mosaic aneuploidy.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923739

Mosaicism in chorionic villus sampling: an analysis of incidence and chromosomes involved in 2612 consecutive cases

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923739

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923739

Small supernumerary marker chromosomes – progress towards a genotype-phenotype correlation

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923739

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

28 October 2018

1 reference

12 December 2020

Array CGH analysis in primary gastrointestinal stromal tumors: Cytogenetic profile correlates with anatomic site and tumor aggressiveness, irrespective of mutational status

1 reference

12 December 2020

Mosaic tetrasomy 12p with triplication of 12p detected by array-based comparative genomic hybridization of peripheral blood DNA

1 reference

12 December 2020

Mosaic trisomies in human spontaneous abortions

1 reference

12 December 2020

The validation of a 7-locus multiplex STR test for use in forensic casework. (I). Mixtures, ageing, degradation and species studies

1 reference

12 December 2020

Cytogenetic results from the U.S. Collaborative Study on CVS

1 reference

12 December 2020

Identifiers

DOI

10.1186/GM168

1 reference

Dimensions Publication ID

30 July 2017

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30 July 2017

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