The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies (Q37259226)

19 August 2017

The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies (English)

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19 August 2017

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Jan O Korbel

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Eric M. Sobel

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Eric M Sobel

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Mark Bender Gerstein

31

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Mark B Gerstein

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19 August 2017

29

Dorothy Warburton

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19 August 2017

32

Michael Snyder

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19 August 2017

7

Fabian Grubert

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19 August 2017

3

Alexander Eckehart Urban

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19 August 2017

30

Sherman Weissman

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19 August 2017

27

Mordechai Shohat

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19 August 2017

Tal Tirosh-Wagner

2

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19 August 2017

Xiao-Ning Chen

4

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19 August 2017

Maya Kasowski

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19 August 2017

Li Dai

6

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19 August 2017

Chandra Erdman

8

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19 August 2017

Michael C Gao

9

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19 August 2017

Ken Lange

10

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19 August 2017

Gillian M Barlow

12

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19 August 2017

Arthur S Aylsworth

13

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19 August 2017

Nancy J Carpenter

14

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19 August 2017

Robin Dawn Clark

15

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19 August 2017

Monika Y Cohen

16

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19 August 2017

Eric Doran

17

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19 August 2017

Tzipora Falik-Zaccai

18

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19 August 2017

Susan O Lewin

19

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19 August 2017

Ira T Lott

20

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19 August 2017

Barbara C McGillivray

21

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19 August 2017

John B Moeschler

22

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19 August 2017

Mark J Pettenati

23

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19 August 2017

Siegfried M Pueschel

24

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19 August 2017

Kathleen W Rao

25

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19 August 2017

Lisa G Shaffer

26

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19 August 2017

Alexander J Van Riper

28

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19 August 2017

Julie R Korenberg

33

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19 August 2017

language of work or name

English

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publication date

13 July 2009

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Proceedings of the National Academy of Sciences of the United States of America

19 August 2017

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19 August 2017

106

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19 August 2017

12031-12036

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19 August 2017

29

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

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709665

Paired-end mapping reveals extensive structural variation in the human genome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709665

Systematic prediction and validation of breakpoints associated with copy-number variants in the human genome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709665

Gene expression variation in Down's syndrome mice allows prioritization of candidate genes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709665

Global variation in copy number in the human genome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709665

NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709665

High-resolution mapping of DNA copy alterations in human chromosome 22 using high-density tiling oligonucleotide arrays

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709665

Identification of distinct molecular phenotypes in acute megakaryoblastic leukemia by gene expression profiling.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709665

APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709665

An aneuploid mouse strain carrying human chromosome 21 with Down syndrome phenotypes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709665

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709665

Detection of large-scale variation in the human genome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709665

Large-scale copy number polymorphism in the human genome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709665

A new non-linear normalization method for reducing variability in DNA microarray experiments

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709665

The sequence of human chromosome 21 and implications for research into Down syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709665

Human genome anatomy: BACs integrating the genetic and cytogenetic maps for bridging genome and biomedicine.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709665

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709665

DSCAM: a novel member of the immunoglobulin superfamily maps in a Down syndrome region and is involved in the development of the nervous system

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709665

BAC and PAC contigs covering 3.5 Mb of the Down syndrome congenital heart disease region between D21S55 and MX1 on chromosome 21.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709665

A high-fidelity physical map of human chromosome 21q in yeast artificial chromosomes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709665

Down syndrome phenotypes: the consequences of chromosomal imbalance

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709665

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709665

Physical mapping around the Alzheimer disease locus on the proximal long arm of chromosome 21

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709665

Segmental trisomy of murine chromosome 16: a new model system for studying Down syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709665

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709665

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709665

Using fluorescence in situ hybridization (FISH) in genome mapping

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709665

DSCR1 gene expression is dependent on NFATc1 during cardiac valve formation and colocalizes with anomalous organ development in trisomy 16 mice

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709665

Segregation at three loci explains familial and population risk in Hirschsprung disease

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709665

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709665

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

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709665

The Alzheimer amyloid precursor protein maps to human chromosome 21 bands q21.105-q21.05.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709665

Down syndrome: toward a molecular definition of the phenotype.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709665

Synaptic and cognitive abnormalities in mouse models of Down syndrome: exploring genotype-phenotype relationships

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709665

Duplication of the entire 22.9 Mb human chromosome 21 syntenic region on mouse chromosome 16 causes cardiovascular and gastrointestinal abnormalities.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709665

The proto-oncogene ERG in megakaryoblastic leukemias

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709665

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709665

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709665

Human cDNA mapping using a high-resolution R-banding technique and fluorescence in situ hybridization.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2709665

Architecture and anatomy of the genomic locus encoding the human leukemia-associated transcription factor RUNX1/AML1

3 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19597142

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Increased levels of a chromosome 21-encoded tumour invasion and metastasis factor (TIAM1) mRNA in bone marrow of Down syndrome children during the acute phase of AML(M7)

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19597142

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19597142

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.0813248106

1 reference

19 August 2017

0 references

1 reference

19 August 2017

1 reference