(Q34325983)

1 August 2017

Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21 (English)

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1 August 2017

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Stilianos Antonarakis

28

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1 August 2017

14

Stanislas Lyonnet

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Sarantis Gagos

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Sarantis Gagos

3

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Laurence Colleaux

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Laurence Colleaux

16

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Annick Toutain

15

object named as

Annick Toutain

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1 August 2017

18

Ingo Kennerknecht

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1 August 2017

Robert Lyle

1

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1 August 2017

Frédérique Béna

2

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1 August 2017

Corinne Gehrig

4

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1 August 2017

Gipsy Lopez

5

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1 August 2017

Albert Schinzel

6

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1 August 2017

James Lespinasse

7

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1 August 2017

Armand Bottani

8

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1 August 2017

Sophie Dahoun

9

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1 August 2017

Laurence Taine

10

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1 August 2017

Martine Doco-Fenzy

11

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1 August 2017

Pascale Cornillet-Lefèbvre

12

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1 August 2017

Anna Pelet

13

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1 August 2017

Jürgen Horst

17

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1 August 2017

Nobuaki Wakamatsu

19

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1 August 2017

Maria Descartes

20

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1 August 2017

Judy C Franklin

21

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1 August 2017

Lina Florentin-Arar

22

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1 August 2017

Sophia Kitsiou

23

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1 August 2017

Emilie Aït Yahya-Graison

24

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1 August 2017

Maher Costantine

25

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1 August 2017

Pierre-Marie Sinet

26

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1 August 2017

Jean M Delabar

27

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1 August 2017

12 November 2008

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European Journal of Human Genetics

1 August 2017

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1 August 2017

17

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1 August 2017

4

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1 August 2017

454-466

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https://scigraph.springernature.com/pub.10.1038/ejhg.2008.214

1 August 2017

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cites work

Classification of human chromosome 21 gene-expression variations in Down syndrome: impact on disease phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986205

Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986205

Trisomy for the Down syndrome 'critical region' is necessary but not sufficient for brain phenotypes of trisomic mice.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986205

CGH-Explorer: a program for analysis of array-CGH data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986205

Chromosome 21 and down syndrome: from genomics to pathophysiology

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986205

A chromosome 21 critical region does not cause specific Down syndrome phenotypes.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986205

Large-scale copy number polymorphism in the human genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986205

Gene expression from the aneuploid chromosome in a trisomy mouse model of down syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986205

Transcript level alterations reflect gene dosage effects across multiple tissues in a mouse model of down syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986205

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986205

Global up-regulation of chromosome 21 gene expression in the developing down syndrome brain

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986205

The neuropsychology of Down syndrome: evidence for hippocampal dysfunction

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986205

DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986205

BLAT—The BLAST-Like Alignment Tool

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986205

The mouse brain transcriptome by SAGE: differences in gene expression between P30 brains of the partial trisomy 16 mouse model of Down syndrome (Ts65Dn) and normals

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986205

The DNA sequence of human chromosome 21

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986205

Molecular characterisation of partial chromosome 21 aneuploidies by fluorescent PCR.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986205

Ts1Cje, a partial trisomy 16 mouse model for Down syndrome, exhibits learning and behavioral abnormalities

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986205

Construction and characterization of a human bacterial artificial chromosome library

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986205

Monosomy 21q: two cases of del(21q) and review of the literature.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986205

Down syndrome phenotypes: the consequences of chromosomal imbalance

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986205

Molecular mapping of twenty-four features of Down syndrome on chromosome 21.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986205

"Compensatory" uniparental disomy of chromosome 21 in two cases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986205

Molecular mapping of 21 features associated with partial monosomy 21: involvement of the APP-SOD1 region

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986205

A mouse model for Down syndrome exhibits learning and behaviour deficits.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986205

A case of partial monosomy 21q22.2 associated with Rieger's syndrome.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986205

Karyotype 45,XX,-21/46,XX,21q-in an infant with symptoms of G-deletion syndrome I

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986205

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986205

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986205

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986205

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986205

Congenital heart disease in Down's syndrome: two year prospective early screening study

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986205

Protocols to establish genotype-phenotype correlations in Down syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986205

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986205

A case of 21q-syndrome with normal SOD-1 activity

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986205

Partial trisomy of chromosome 21 by maternal translocation t(15;21) (q26.2; q21)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986205

Clinical diagnosis of Down's syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986205

Mapping of the Down syndrome phenotype on chromosome 21 at the molecular level.

6 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.214

Down syndrome congenital heart disease: a narrowed region and a candidate gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.214

Global disruption of the cerebellar transcriptome in a Down syndrome mouse model.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.214

Mild phenotype in two unrelated patients with a partial deletion of 21q22.2-q22.3 defined by FISH and molecular studies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.214

Two cases of partial trisomy 21 (pter-q22.1) without the major features of Down syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.214

Developmental defects in trisomy 21 and mouse models.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.214

Anomalies in Down syndrome individuals in a large population-based registry

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986205

Down syndrome with partial duplication and del (21) syndrome: study protocol and call for collaboration. Study I: Clinical assessment.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986205

Transcriptome analysis of human autosomal trisomy

28 October 2018

1 reference

12 December 2020

[Translocation 46,XX, t(15; 21) (q13; q22,1) in the mother of 2 children with partial trisomy 15 and monosomy 21]

1 reference

12 December 2020

Cytogenetic and molecular analysis of a de novo tandem duplication of chromosome 21

1 reference

12 December 2020

Physical findings in 21q22 deletion suggest critical region for 21q- phenotype in q22

1 reference

12 December 2020

High-resolution physical mapping of a 6.7-Mb YAC contig spanning a region critical for the monosomy 21 phenotype in 21q21.3-q22.1.

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2008.214

1 reference

Dimensions Publication ID

1 August 2017

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1 reference

1 August 2017

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