(Q36123421)

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Fetal genetic risk of isolated cleft lip only versus isolated cleft lip and palate: a subphenotype analysis using two population-based studies of orofacial clefts in Scandinavia

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Europe PubMed Central

PMC publication ID

12 August 2017

Fetal genetic risk of isolated cleft lip only versus isolated cleft lip and palate: a subphenotype analysis using two population-based studies of orofacial clefts in Scandinavia (English)

1 reference

Europe PubMed Central

PMC publication ID

12 August 2017

1 reference

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Abee Lowman Boyles

object named as

Abee Lowman Boyles

8

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Sandra Daack-Hirsch

object named as

Sandra Daack-Hirsch

9

0 references

object named as

Allen James Wilcox

5

0 references

Kaare Christensen

object named as

Kaare Christensen

7

0 references

Astanand Jugessur

1

object named as

Astanand Jugessur

1 reference

Europe PubMed Central

PMC publication ID

12 August 2017

author name string

Min Shi

2

1 reference

Europe PubMed Central

PMC publication ID

12 August 2017

Håkon Kristian Gjessing

3

1 reference

Europe PubMed Central

PMC publication ID

12 August 2017

Rolv Terje Lie

4

1 reference

Europe PubMed Central

PMC publication ID

12 August 2017

Clarice Ring Weinberg

6

1 reference

Europe PubMed Central

PMC publication ID

12 August 2017

Truc Trung Nguyen

10

1 reference

Europe PubMed Central

PMC publication ID

12 August 2017

Lene Christiansen

11

1 reference

Europe PubMed Central

PMC publication ID

12 August 2017

Andrew Carl Lidral

12

1 reference

Europe PubMed Central

PMC publication ID

12 August 2017

Jeffrey Clark Murray

13

1 reference

Europe PubMed Central

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12 August 2017

language of work or name

1 reference

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publication date

7 December 2010

1 reference

Europe PubMed Central

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12 August 2017

number of pages

8

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Birth Defects Research Part A: Clinical and Molecular Teratology

1 reference

Europe PubMed Central

PMC publication ID

12 August 2017

91

1 reference

Europe PubMed Central

PMC publication ID

12 August 2017

2

1 reference

Europe PubMed Central

PMC publication ID

12 August 2017

85-92

1 reference

Europe PubMed Central

PMC publication ID

12 August 2017

Rare variants create synthetic genome-wide associations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407039

2 October 2017

A powerful approach to sub-phenotype analysis in population-based genetic association studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407039

2 October 2017

FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407039

2 October 2017

A cohort study of recurrence patterns among more than 54,000 relatives of oral cleft cases in Denmark: support for the multifactorial threshold model of inheritance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407039

2 October 2017

Targeted capture and massively parallel sequencing of 12 human exomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407039

2 October 2017

A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407039

2 October 2017

The genetics of isolated orofacial clefts: from genotypes to subphenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407039

2 October 2017

Genome scan, fine-mapping, and candidate gene analysis of non-syndromic cleft lip with or without cleft palate reveals phenotype-specific differences in linkage and association results

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407039

2 October 2017

Genetic determinants of facial clefting: analysis of 357 candidate genes using two national cleft studies from Scandinavia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407039

2 October 2017

Using case-parent triads to estimate relative risks associated with a candidate haplotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407039

2 October 2017

Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407039

2 October 2017

Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407039

2 October 2017

Identification of microdeletions in candidate genes for cleft lip and/or palate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407039

2 October 2017

Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407039

2 October 2017

Systematic assessment of copy number variant detection via genome-wide SNP genotyping

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407039

2 October 2017

Genes mirror geography within Europe

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407039

2 October 2017

Mapping and sequencing of structural variation from eight human genomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407039

2 October 2017

Genetic variants in IRF6 and the risk of facial clefts: single-marker and haplotype-based analyses in a population-based case-control study of facial clefts in Norway

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407039

2 October 2017

Familial risk of oral clefts by morphological type and severity: population based cohort study of first degree relatives

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407039

2 October 2017

FGF signalling and SUMO modification: new players in the aetiology of cleft lip and/or palate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407039

2 October 2017

Identification of risk-related haplotypes with the use of multiple SNPs from nuclear families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407039

2 October 2017

Subclinical features in non-syndromic cleft lip with or without cleft palate (CL/P): review of the evidence that subepithelial orbicularis oris muscle defects are part of an expanded phenotype for CL/P.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407039

2 October 2017

Impaired FGF signaling contributes to cleft lip and palate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407039

2 October 2017

No gene is an island: the flip-flop phenomenon

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407039

2 October 2017

Folic acid supplements and risk of facial clefts: national population based case-control study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407039

2 October 2017

The structure and regulation of vinculin.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407039

2 October 2017

FGF signalling in craniofacial development and developmental disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407039

2 October 2017

The Pittsburgh Oral-Facial Cleft study: expanding the cleft phenotype. Background and justification.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407039

2 October 2017

Changing lifestyles and oral clefts occurrence in Denmark

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407039

2 October 2017

Vinculin controls PTEN protein level by maintaining the interaction of the adherens junction protein beta-catenin with the scaffolding protein MAGI-2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407039

2 October 2017

Current concepts in the embryology and genetics of cleft lip and cleft palate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407039

2 October 2017

Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407039

2 October 2017

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407039

2 October 2017

Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407039

2 October 2017

Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407039

2 October 2017

Transcription factor AP-2 essential for cranial closure and craniofacial development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407039

2 October 2017

PVRL1 variants contribute to non-syndromic cleft lip and palate in multiple populations.

1 reference

https://api.crossref.org/works/10.1002%2FBDRA.20747

21 January 2018

A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4

1 reference

https://api.crossref.org/works/10.1002%2FBDRA.20747

21 January 2018

Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate

1 reference

https://api.crossref.org/works/10.1002%2FBDRA.20747

21 January 2018

Guidelines for the design and analysis of studies on nonsyndromic cleft lip and cleft palate in humans: summary report from a Workshop of the International Consortium for Oral Clefts Genetics.

1 reference

https://api.crossref.org/works/10.1002%2FBDRA.20747

21 January 2018

Candidate genes for oral-facial clefts in Guatemalan families.

1 reference

https://api.crossref.org/works/10.1002%2FBDRA.20747

21 January 2018

Methods for handling multiple testing

1 reference

https://api.crossref.org/works/10.1002%2FBDRA.20747

21 January 2018

Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly

1 reference

https://api.crossref.org/works/10.1002%2FBDRA.20747

21 January 2018

Multiplex relative risk and estimation of the number of loci underlying an inherited disease

1 reference

https://api.crossref.org/works/10.1002%2FBDRA.20747

21 January 2018

Genetic flip-flop without an accompanying change in linkage disequilibrium

1 reference

https://api.crossref.org/works/10.1002%2FBDRA.20747

21 January 2018

Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate

1 reference

https://api.crossref.org/works/10.1002%2FBDRA.20747

21 January 2018

Case-parent triads: estimating single- and double-dose effects of fetal and maternal disease gene haplotypes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3407039

23 September 2018

Plots of P-values to evaluate many tests simultaneously

1 reference

https://api.crossref.org/works/10.1002%2FBDRA.20747

21 January 2018

Cleft Lip and Palate versus Cleft Lip Only: Are They Distinct Defects?

1 reference

https://api.crossref.org/works/10.1002%2FBDRA.20747

21 January 2018

Prevalence of Major Anatomic Variations in Oral Clefts

1 reference

https://api.crossref.org/works/10.1002%2FBDRA.20747

21 January 2018

Rethinking isolated cleft palate: evidence of occult lip defects in a subset of cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/21319277

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Orofacial clefts in the National Birth Defects Prevention Study, 1997-2004

1 reference

https://pubmed.ncbi.nlm.nih.gov/21319277

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/BDRA.20747

1 reference

Europe PubMed Central

PMC publication ID

12 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

12 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

12 August 2017

ResearchGate publication ID

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