(Q34694765)

4 August 2017

title

ALK2 mutation in a patient with Down's syndrome and a congenital heart defect (English)

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4 August 2017

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Kelly A Smith

2

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Jeroen Bakkers

object named as

Jeroen Bakkers

13

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Victor Guryev

object named as

Victor Guryev

5

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Cheryl L Maslen

10

object named as

Cheryl L Maslen

1 reference

4 August 2017

9

Barbara Jm Mulder

1 reference

4 August 2017

8

Peter Ten Dijke

1 reference

4 August 2017

Irene C Joziasse

1

1 reference

4 August 2017

Sonja Chocron

3

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4 August 2017

Maarten van Dinther

4

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4 August 2017

Jasper J van de Smagt

6

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4 August 2017

Edwin Cuppen

7

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4 August 2017

Benjamin Reshey

11

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4 August 2017

Pieter A Doevendans

12

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4 August 2017

publication date

19 January 2011

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European Journal of Human Genetics

4 August 2017

published in

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4 August 2017

volume

19

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4 August 2017

issue

4

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4 August 2017

page(s)

389-393

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2010.224

4 August 2017

exact match

0 references

cites work

Dominant-negative ALK2 allele associates with congenital heart defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060330

Bone morphogenetic protein heterodimers assemble heteromeric type I receptor complexes to pattern the dorsoventral axis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060330

Down syndrome--recent progress and future prospects

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060330

Down syndrome: a cardiovascular perspective

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060330

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060330

CONCOR, an initiative towards a national registry and DNA-bank of patients with congenital heart disease in the Netherlands: rationale, design, and first results

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060330

SIFT: Predicting amino acid changes that affect protein function

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060330

Dorsoventral patterning in the zebrafish: bone morphogenetic proteins and beyond.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060330

Identification and functional characterization of distinct critically important bone morphogenetic protein-specific response elements in the Id1 promoter

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060330

Prediction of deleterious human alleles

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060330

Towards a structural basis of human non-synonymous single nucleotide polymorphisms

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060330

Expression of type VI collagen in the developing mouse heart

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060330

Genes establishing dorsoventral pattern formation in the zebrafish embryo: the ventral specifying genes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060330

Down syndrome phenotypes: the consequences of chromosomal imbalance

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060330

Characterization of type I receptors for transforming growth factor-beta and activin

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060330

The incidence of Down's syndrome over a 19-year period with special reference to maternal age.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060330

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060330

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060330

Down's syndrome: occurrence and outcome in the north of England, 1985-99.

7 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.224

Linkage disequilibrium mapping in trisomic populations: analytical approaches and an application to congenital heart defects in Down syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.224

Expression of type VI collagen in the developing mouse heart

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.224

Collagen type VI expression during cardiac development and in human fetuses with trisomy 21

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.224

CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.224

The association between congenital heart disease and Down syndrome in prenatal life

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21248739

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Atrioventricular septal defects: possible etiologic differences between complete and partial defects

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21248739

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2010.224

1 reference

4 August 2017

1 reference

4 August 2017

1 reference