(Q34400514)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20815724%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

title

CRISPLD2 variants including a C471T silent mutation may contribute to nonsyndromic cleft lip with or without cleft palate (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20815724%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

1 reference

1

1 reference

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13 February 2020

José Mauro Granjeiro

7

1 reference

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13 February 2020

13

Andrew E Czeizel

1 reference

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13 February 2020

18

Mary L Marazita

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20815724%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

16

Jacqueline T Hecht

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20815724%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

author name string

Renato Menezes

2

1 reference

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13 February 2020

Margaret E Cooper

3

1 reference

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13 February 2020

Renata F Fonseca

4

1 reference

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13 February 2020

Stephen Tropp

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20815724%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Manika Govil

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20815724%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Sandra R Imoehl

8

1 reference

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13 February 2020

M Adela Mansilla

9

1 reference

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13 February 2020

Jeffrey C Murray

10

1 reference

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13 February 2020

Eduardo E Castilla

11

1 reference

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13 February 2020

Iêda M Orioli

12

1 reference

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13 February 2020

Lian Ma

14

1 reference

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13 February 2020

Brett T Chiquet

15

1 reference

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13 February 2020

Alexandre R Vieira

17

1 reference

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13 February 2020

language of work or name

English

0 references

publication date

1 July 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20815724%20AND%20SRC:MED&resulttype=core&format=json

Cleft Palate: Craniofacial Journal

13 February 2020

published in

1 reference

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13 February 2020

volume

48

1 reference

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13 February 2020

issue

4

1 reference

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13 February 2020

page(s)

363-370

1 reference

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Testing reported associations of genetic risk factors for oral clefts in a large Irish study population

13 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000893

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000893

Defining subphenotypes for oral clefts based on dental development.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000893

Silent SNPs: impact on gene function and 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=3000893

PLINK: a tool set for whole-genome association and population-based linkage analyses

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000893

CRISPLD2: a novel NSCLP candidate gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000893

CLCP1 interacts with semaphorin 4B and regulates motility of lung cancer cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000893

Genetics. SNPs, silent but not invisible.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000893

Palatal fusion - where do the midline cells go? A review on cleft palate, a major human birth defect

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000893

FASTSNP: an always up-to-date and extendable service for SNP function analysis and prioritization.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000893

Recent advances in craniofacial morphogenesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000893

TRANSFAC and its module TRANSCompel: transcriptional gene regulation in eukaryotes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000893

Haploview: analysis and visualization of LD and haplotype maps

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000893

Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000893

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000893

Gene/environment causes of cleft lip and/or palate

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000893

Nonsyndromic cleft lip and palate: complex genetics and environmental effects

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000893

NMR structure of the LCCL domain and implications for DFNA9 deafness disorder

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000893

Genomewide scans of complex human diseases: true linkage is hard to find

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000893

Implementing a unified approach to family-based tests of association.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000893

A chromosomal duplication map of malformations: regions of suspected haplo- and triplolethality--and tolerance of segmental aneuploidy--in humans

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000893

Cleft lip and palate: no evidence of linkage to transforming growth factor alpha

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3000893

Association of chromosomal regions 3p21.2, 10p13, and 16p13.3 with nonsyndromic cleft lip and palate.

6 July 2018

1 reference

Cleft palate associated with an unbalanced karyotype in piglets sired by a heterozygous carrier boar with a balanced constitutional reciprocal translocation.

21 January 2018

1 reference

The family based association test method: strategies for studying general genotype--phenotype associations.

21 January 2018

1 reference

A unified approach to adjusting association tests for population admixture with arbitrary pedigree structure and arbitrary missing marker information.

21 January 2018

1 reference

Identification of susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a two stage genome scan of affected sib-pairs

21 January 2018

1 reference

GOLD--graphical overview of linkage disequilibrium

21 January 2018

1 reference

12 December 2020

FOXC2 truncating mutation in distichiasis, lymphedema, and cleft palate

1 reference

12 December 2020

Genome-scan for loci involved in cleft lip with or without cleft palate in consanguineous families from Turkey

1 reference

12 December 2020

Genome scan for loci involved in nonsyndromic cleft lip with or without cleft palate in families from West Bengal, India

1 reference

12 December 2020

Maternal Cigarette Smoking and Oral Clefts: A Meta-analysis

1 reference

12 December 2020

Application of transmission disequilibrium tests to nonsyndromic oral clefts: Including candidate genes and environmental exposures in the models

1 reference

12 December 2020

Descriptive epidemiology of oral clefts in a multiethnic population, Hawaii, 1986-2000

1 reference

12 December 2020

Identifiers

DOI

10.1597/09-227

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20815724%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20815724%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

1 reference