(Q35135033)

6 August 2017

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

1 reference

single-nucleotide polymorphism

6 August 2017

1 reference

9

Hakon Hakonarson

1 reference

6 August 2017

Laura K Conlin

1

1 reference

6 August 2017

Brian D Thiel

2

1 reference

6 August 2017

Carsten G Bonnemann

3

1 reference

6 August 2017

Livija Medne

4

1 reference

6 August 2017

Linda M Ernst

5

1 reference

6 August 2017

Elaine H Zackai

6

1 reference

6 August 2017

Matthew A Deardorff

7

1 reference

6 August 2017

Ian D Krantz

8

1 reference

6 August 2017

Nancy B Spinner

10

1 reference

6 August 2017

6 January 2010

1 reference

6 August 2017

Human Molecular Genetics

1 reference

6 August 2017

19

1 reference

6 August 2017

1263-1275

1 reference

6 August 2017

7

1 reference

Genetic analysis of variation in human meiotic recombination

6 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146011

Runs of homozygosity in European populations

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146011

Complex and segmental uniparental disomy updated

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146011

Resolution of trisomic mosaicism in prenatal diagnosis: estimated performance of a 50K SNP microarray

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146011

The origin of human aneuploidy: where we have been, where we are going

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146011

Chimera and other fertilization errors

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146011

A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146011

Chromosome abnormalities and their relationship to morphology and development of human embryos

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146011

Chromosome 7 aberrations in a young girl with myelodysplasia and hepatoblastoma: an unusual association

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146011

Mechanisms of aneuploidy induction in human oogenesis and early embryogenesis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146011

Trisomy recurrence: a reconsideration based on North American data

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146011

Paternal uniparental disomy 14: introducing the "coat-hanger" sign

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146011

Mechanisms leading to uniparental disomy and their clinical consequences

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146011

Pathogenesis of chromosomal mosaicism and its effect on early human development

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146011

Frequency of meiotic trisomy depends on involved chromosome and mode of ascertainment

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146011

Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146011

Molecular studies of chromosomal mosaicism: relative frequency of chromosome gain or loss and possible role of cell selection.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146011

Mosaic uniparental disomy in Beckwith-Wiedemann syndrome.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146011

A human parthenogenetic chimaera.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146011

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146011

Tissue specificity and stability of mosaicism in Pallister-Killian +i(12p) syndrome: relevance for prenatal diagnosis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146011

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146011

Maternal uniparental disomy 7 and Silver-Russell syndrome - clinical update and comparison with other subgroups.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146011

Analytical and clinical validity of whole-genome oligonucleotide array comparative genomic hybridization for pediatric patients with mental retardation and developmental delay.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146011

An ABCC8 gene mutation and mosaic uniparental isodisomy resulting in atypical diffuse congenital hyperinsulinism.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146011

Double trisomy in spontaneous miscarriages: cytogenetic and molecular approach.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146011

A genome-wide scalable SNP genotyping assay using microarray technology

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146011

Differences in chromosome susceptibility to aneuploidy and survival to first trimester.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146011

Long contiguous stretches of homozygosity in the human genome

27 September 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

A study of 45,X/46,XX mosaicism in Turner syndrome females: a novel primer pair for the (CAG)n repeat within the androgen receptor gene

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

Constitutional trisomy 8 mosaicism due to meiosis II non-disjunction in a phenotypically normal woman with hematologic abnormalities

1 reference

12 December 2020

Molecular studies of the aetiology of trisomy 8 in spontaneous abortions and the liveborn population

1 reference

12 December 2020

Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDQ003

1 reference

6 August 2017

1 reference

6 August 2017

1 reference