(Q35196747)

English

Down syndrome due to de novo Robertsonian translocation t(14q;21q): DNA polymorphism analysis suggests that the origin of the extra 21q is maternal

scientific article published on September 1, 1991

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scholarly article

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Europe PubMed Central

PubMed publication ID

7 August 2017

Down syndrome due to de novo Robertsonian translocation t(14q;21q): DNA polymorphism analysis suggests that the origin of the extra 21q is maternal (English)

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Europe PubMed Central

PubMed publication ID

7 August 2017

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M. B. Petersen

1

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1831959

5 December 2022

P. A. Adelsberger

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1831959

5 December 2022

A. A. Schinzel

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1831959

5 December 2022

F. Binkert

4

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1831959

5 December 2022

G. K. Hinkel

5

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1831959

5 December 2022

S. E. Antonarakis

6

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1831959

5 December 2022

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publication date

1 September 1991

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Europe PubMed Central

PubMed publication ID

7 August 2017

full work available at URL

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1831959/?tool=EBI

online access status

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1831959

5 December 2022

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1831959/pdf/?tool=EBI

Portable Document Format

online access status

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1831959

5 December 2022

https://europepmc.org/articles/PMC1683126

online access status

content deliverer

Europe PubMed Central

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1831959

5 December 2022

https://europepmc.org/articles/PMC1683126?pdf=render

Portable Document Format

online access status

content deliverer

Europe PubMed Central

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1831959

5 December 2022

American Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

49

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

3

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

529-536

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

Association of ribosomal genes in the fibrillar center of the nucleolus: a factor influencing translocation and nondisjunction in the human meiotic oocyte

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683126

28 July 2018

Structural basis for Robertsonian translocations in man: association of ribosomal genes in the nucleolar fibrillar center in meiotic spermatocytes and oocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683126

28 July 2018

Molecular evidence for genetic exchanges among ribosomal genes on nonhomologous chromosomes in man and apes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683126

28 July 2018

Patterns of D chromosome involvement in human (DqDq) and (DqGq) Robertsonian rearrangements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683126

28 July 2018

Homologous subfamilies of human alphoid repetitive DNA on different nucleolus organizing chromosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683126

28 July 2018

A subfamily of alphoid repetitive DNA shared by the NOR-bearing human chromosomes 14 and 22.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683126

28 July 2018

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683126

28 July 2018

Evidence for reduced recombination on the nondisjoined chromosomes 21 in Down syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683126

28 July 2018

Translocation Down syndrome in Ohio 1970-1981: epidemiologic and cytogenetic factors and mutation rate estimates

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683126

28 July 2018

Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683126

28 July 2018

Isolation and mapping of a polymorphic DNA sequence pMLJ14 on chromosome 14 [D14S13]

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683126

28 July 2018

Homologous alpha satellite sequences on human acrocentric chromosomes with selectivity for chromosomes 13, 14 and 21: implications for recombination between nonhomologues and Robertsonian translocations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683126

28 July 2018

Evolution of alpha-satellite DNA on human acrocentric chromosomes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683126

28 July 2018

Hypervariabflity of simple sequences as a general source for polymorphic DNA markers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683126

28 July 2018

A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683126

28 July 2018

Isochromosome not translocation in trisomy 21q21q

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683126

28 July 2018

Molecular genetic approach to the characterization of the "Down syndrome region" of chromosome 21.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683126

28 July 2018

Dinucleotide repeat polymorphism located at D21S120.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683126

28 July 2018

The polydeoxyadenylate tract of Alu repetitive elements is polymorphic in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683126

28 July 2018

Analysis of human chromosome 21: correlation of physical and cytogenetic maps; gene and CpG island distributions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683126

28 July 2018

Analysis of DNA polymorphisms suggests that most de novo dup(21q) chromosomes in patients with Down syndrome are isochromosomes and not translocations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683126

28 July 2018

Use of short sequence repeat DNA polymorphisms after PCR amplification to detect the parental origin of the additional chromosome 21 in Down syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683126

28 July 2018

A genetic linkage map of 27 markers on human chromosome 21

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683126

28 July 2018

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683126

28 July 2018

The origin of the extra chromosome 21 in Down syndrome. Studies of fluorescent variants and satelite association in 26 informative families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683126

28 July 2018

Incidence study of Down's syndrome in Copenhagen, 1960?1971: with chromosome investigation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683126

28 July 2018

Nucleolus-organisers in the causation of chromosomal anomalies in man

1 reference

https://pubmed.ncbi.nlm.nih.gov/1831959

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alphoid DNA polymorphisms for chromosome 21 can be distinguished from those of chromosome 13 using probes homologous to both

1 reference

https://pubmed.ncbi.nlm.nih.gov/1831959

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A molecular genetic approach to the identification of isochromosomes of chromosome 21

1 reference

https://pubmed.ncbi.nlm.nih.gov/1831959

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Parental origin of the extra chromosome in trisomy 21 as indicated by analysis of DNA polymorphisms. Down Syndrome Collaborative Group

1 reference

https://pubmed.ncbi.nlm.nih.gov/1831959

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage mapping of the highly informative DNA marker D21S156 to human chromosome 21 using a polymorphic GT dinucleotide repeat

1 reference

https://pubmed.ncbi.nlm.nih.gov/1831959

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular cytogenetic evidence to characterize breakpoint regions in Robertsonian translocations

1 reference

https://pubmed.ncbi.nlm.nih.gov/1831959

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic risk factors in human trisomy 21

1 reference

https://pubmed.ncbi.nlm.nih.gov/1831959

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two subsets of human alphoid repetitive DNA show distinct preferential localization in the pericentric regions of chromosomes 13, 18, and 21

1 reference

https://pubmed.ncbi.nlm.nih.gov/1831959

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nucleolus organizing genes on chromosome 21: recombination and nondisjunction

1 reference

https://pubmed.ncbi.nlm.nih.gov/1831959

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A genetic linkage map of 17 markers on human chromosome 21

1 reference

https://pubmed.ncbi.nlm.nih.gov/1831959

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Informativeness of human (dC-dA)n.(dG-dT)n polymorphisms

1 reference

https://pubmed.ncbi.nlm.nih.gov/1831959

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage analysis of the human HMG14 gene on chromosome 21 using a GT dinucleotide repeat as polymorphic marker

1 reference

https://pubmed.ncbi.nlm.nih.gov/1831959

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Origin of extra chromosome in trisomy 21

1 reference

https://pubmed.ncbi.nlm.nih.gov/1831959

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

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