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

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13 February 2020

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1

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13 February 2020

José Mauro Granjeiro

7

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13 February 2020

13

Andrew E Czeizel

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13 February 2020

18

Mary L Marazita

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13 February 2020

16

Jacqueline T Hecht

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13 February 2020

author name string

Renato Menezes

2

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13 February 2020

Margaret E Cooper

3

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13 February 2020

Renata F Fonseca

4

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13 February 2020

Stephen Tropp

5

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13 February 2020

Manika Govil

6

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13 February 2020

Sandra R Imoehl

8

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13 February 2020

M Adela Mansilla

9

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13 February 2020

Jeffrey C Murray

10

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13 February 2020

Eduardo E Castilla

11

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13 February 2020

Iêda M Orioli

12

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13 February 2020

Lian Ma

14

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13 February 2020

Brett T Chiquet

15

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13 February 2020

Alexandre R Vieira

17

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13 February 2020

language of work or name

English

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publication date

1 July 2010

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Cleft Palate: Craniofacial Journal

13 February 2020

published in

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13 February 2020

volume

48

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13 February 2020

issue

4

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13 February 2020

page(s)

363-370

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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

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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

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Defining subphenotypes for oral clefts based on dental development.

6 July 2018

1 reference

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Silent SNPs: impact on gene function and phenotype

6 July 2018

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6 July 2018

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CRISPLD2: a novel NSCLP candidate gene

6 July 2018

1 reference

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

6 July 2018

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Genetics. SNPs, silent but not invisible.

6 July 2018

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

6 July 2018

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

6 July 2018

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Recent advances in craniofacial morphogenesis

6 July 2018

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TRANSFAC and its module TRANSCompel: transcriptional gene regulation in eukaryotes

6 July 2018

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Haploview: analysis and visualization of LD and haplotype maps

6 July 2018

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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

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

6 July 2018

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Gene/environment causes of cleft lip and/or palate

6 July 2018

1 reference

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Nonsyndromic cleft lip and palate: complex genetics and environmental effects

6 July 2018

1 reference

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

6 July 2018

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

6 July 2018

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

6 July 2018

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

6 July 2018

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

6 July 2018

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

6 July 2018

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

21 January 2018

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21 January 2018

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

21 January 2018

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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

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GOLD--graphical overview of linkage disequilibrium

21 January 2018

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12 December 2020

FOXC2 truncating mutation in distichiasis, lymphedema, and cleft palate

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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

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12 December 2020

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

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12 December 2020

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

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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

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

13 February 2020

PubMed publication ID

20815724

1 reference