(Q55691272)

21 July 2018

title

Evaluation of genes involved in limb development, angiogenesis, and coagulation as risk factors for congenital limb deficiencies. (English)

1 reference

21 July 2018

author

Denise M. Kay

3

1 reference

21 July 2018

Aiyi Liu

7

1 reference

21 July 2018

James L. Mills

10

1 reference

21 July 2018

Paul Romitti

6

object named as

Paul A Romitti

1 reference

21 July 2018

Marilyn L Browne

1

1 reference

21 July 2018

Tonia C Carter

2

1 reference

21 July 2018

Devon Kuehn

4

1 reference

21 July 2018

Lawrence C Brody

5

1 reference

21 July 2018

Michele Caggana

8

1 reference

21 July 2018

Charlotte M Druschel

9

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21 July 2018

language of work or name

English

0 references

publication date

10 September 2012

1 reference

21 July 2018

American Journal of Medical Genetics

published in

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21 July 2018

volume

158A

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21 July 2018

issue

10

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21 July 2018

page(s)

2463-2472

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21 July 2018

ISL1 directly regulates FGF10 transcription during human cardiac outflow formation

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3448837

Folate and vitamin B12-related genes and risk for omphalocele

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3448837

The role of CYP26 enzymes in defining appropriate retinoic acid exposure during embryogenesis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3448837

Associated malformations in patients with limb reduction deficiencies

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3448837

Haploview: Visualization and analysis of SNP genotype data

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3448837

Genetic regulation of embryological limb development with relation to congenital limb deformity in humans

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3448837

LADD syndrome is caused by FGF10 mutations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3448837

Molecular models for vertebrate limb development

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3448837

Anatomic and etiological classification of congenital limb deficiencies.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3448837

SNPnexus: a web database for functional annotation of newly discovered and public domain single nucleotide polymorphisms.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3448837

Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3448837

An evaluation of congenital malformations surveillance in New York State: an application of Centers for Disease Control and Prevention (CDC) guidelines for evaluating surveillance systems

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3448837

FGF10 acts as a major ligand for FGF receptor 2 IIIb in mouse multi-organ development

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3448837

Fgf10 is essential for limb and lung formation

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3448837

Increased frequency of genetic thrombophilia in women with complications of pregnancy

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3448837

The teratogenicity of N(omega)-nitro-L-ariginine methyl ester (L-NAME), a nitric oxide synthase inhibitor, in rats.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3448837

Several common variants modulate heart rate, PR interval and QRS duration

12 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.35565

Risk of limb deficiency defects associated with NAT1, NAT2, GSTT1, GSTM1, and NOS3 genetic variants, maternal smoking, and vitamin supplement intake

21 January 2018

1 reference

12 December 2020

Limb reduction defects in endothelial nitric oxide synthase-deficient mice

1 reference

12 December 2020

Risks of human limb deficiency anomalies associated with 29 SNPs of genes involved in homocysteine metabolism, coagulation, cell-cell interactions, inflammatory response, and blood pressure regulation

1 reference

12 December 2020

A pilot study of the possible role of familial defects in anticoagulation as a cause for terminal limb reduction malformations

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.A.35565

1 reference

21 July 2018

PMC publication ID

3448837

1 reference

21 July 2018

PubMed publication ID

22965740

1 reference

21 July 2018