(Q35196333)

7 August 2017

title

No significant effect of monosomy for distal 21q22.3 on the Down syndrome phenotype in "mirror" duplications of chromosome 21 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1463008

29 September 2022

1 reference

1 reference

chromosome abnormality

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1463008

29 September 2022

monosomy

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1463008

29 September 2022

author name string

Théophile D

2

1 reference

7 August 2017

Stamboulieh-Abazis D

5

1 reference

7 August 2017

Rethoré MO

9

1 reference

7 August 2017

C. Pangalos

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1463008

29 September 2022

D. Théophile

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1463008

29 September 2022

P. M. Sinet

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1463008

29 September 2022

A. Marks

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1463008

29 September 2022

D. Stamboulieh-Abazis

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1463008

29 September 2022

Z. Chettouh

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1463008

29 September 2022

M. Prieur

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1463008

29 September 2022

C. Verellen

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1463008

29 September 2022

M. O. Rethoré

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1463008

29 September 2022

J. Lejeune

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1463008

29 September 2022

language of work or name

English

0 references

publication date

1 December 1992

1 reference

full work available at URL

7 August 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1463008/pdf/?tool=EBI

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1463008

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1463008/?tool=EBI

29 September 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1463008

https://europepmc.org/articles/PMC1682936

29 September 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1463008

https://europepmc.org/articles/PMC1682936?pdf=render

29 September 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1463008

American Journal of Human Genetics

29 September 2022

published in

1 reference

7 August 2017

volume

51

1 reference

7 August 2017

issue

6

1 reference

7 August 2017

page(s)

1240-1250

1 reference

Dic(21;21) in a Down's syndrome child with an unusual chromosome 9 variant in the mother.

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682936

Human cytoplasmic superoxide dismutase cDNA clone: a probe for studying the molecular biology of Down 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=1682936

A 21-21 tandem translocation with satellites on both long and short arms

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682936

Down's syndrome. The possibility of a pathogenetic segment on chromosome no. 21.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682936

Cloned DNA probes regionally mapped to human chromosome 21 and their use in determining the origin of nondisjunction

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682936

Isolation and partial characterization of the human alpha A-crystallin gene

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682936

Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682936

Cloning of the beta subunit of the leukocyte adhesion proteins: homology to an extracellular matrix receptor defines a novel supergene family

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682936

Gene encoding the beta subunit of S100 protein is on chromosome 21: implications for Down 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=1682936

Molecular and cytogenetic characterization of a de novo t(5p;21q) in a patient previously diagnosed as monosomy 21.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682936

Isolation and regional mapping of DNA sequences unique to human chromosome 21.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682936

Construction of a cDNA clone containing the entire coding region of the human liver-type phosphofructokinase

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682936

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682936

Critical role of the D21S55 region on chromosome 21 in the pathogenesis of Down 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=1682936

TG repeat polymorphism at the D21S167 locus

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682936

The consequences of chromosome imbalance

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682936

Clinical, cytogenetic, and molecular genetic characterization of two unrelated patients with different duplications of 21q.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682936

Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682936

Report of the committee on the genetic constitution of chromosome 21.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682936

Deletion of chromosome 21 and normal intelligence: molecular definition of the lesion

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682936

A map of the distal region of the long arm of human chromosome 21 constructed by radiation hybrid mapping and pulsed-field gel electrophoresis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682936

Slot blot method for the quantification of DNA sequences and mapping of chromosome rearrangements: application to chromosome 21.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682936

Dinucleotide repeat polymorphism at the human liver-type 6-phosphofructokinase (PFKL) gene

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682936

A genetic linkage map of 27 markers on human chromosome 21

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682936

Gene-dosage mapping of 30 DNA markers on chromosome 21.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682936

A contiguous Not I restriction map of band q22.3 of human chromosome 21

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682936

Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682936

A genetic linkage map of human chromosome 21: analysis of recombination as a function of sex and age

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682936

Mechanisms of ring chromosome formation in 11 cases of human ring chromosome 21

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682936

Partial trisomy 21. Further evidence that trisomy of band 21q22 is essential for Down's phenotype

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682936

'Mirror image' chromosome No. 21

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682936

Clinical diagnosis of Down's 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=1682936

RECIPROCAL TRANSLOCATION AND MOSAICISM IN A MONGOL

13 July 2018

1 reference

12 December 2020

An unusual translocation in a case of Mongolism

1 reference

12 December 2020

Linkage mapping of highly informative DNA polymorphisms within the human interferon-α receptor gene on chromosome 21

1 reference

12 December 2020

Ring chromosome 21 in healthy persons: different consequencies in females and in males

1 reference

12 December 2020

[Two subterminal heterochromatin regions in a rare form of 21-21 translocation]

1 reference

12 December 2020

Down's Syndrome with translocation-en-tandem: a report of two unrelated cases

1 reference

12 December 2020

Monosomy 21: a new case confirmed by in situ hybridization

1 reference

12 December 2020

Identification of G-group chromosomes involved in a G-G tandem-translocation by the giemsa-band technique

1 reference

12 December 2020

Down's syndrome associated with a familial (21q-; 22q+) translocation

1 reference

12 December 2020

Fluorescent chromosomes of a tandem translocation in a mongol patient

1 reference

12 December 2020

A case of G-G translocation in tandem

1 reference

12 December 2020

Partial trisomy and monosomy 21 in an infant with an unusual de novo 21/21 translocation

1 reference

12 December 2020

A chromosomal abnormality in a girl with some features of Down's syndrome (mongolism)

1 reference

12 December 2020

[Trisomy 21 by mirror duplication 46,XX,psu dic(21)ter rea (21q21q) (author's transl)]

1 reference

12 December 2020

Identifiers

PMC publication ID

1682936

1 reference

7 August 2017

1 reference