(Q55116694)

21 June 2018

title

Excess maternal transmission of markers in TCOF1 among cleft palate case-parent trios from three populations. (English)

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21 June 2018

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14

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21 June 2018

Ji Wan Park

Ji Wan Park

6

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Sun Ha Jee

Sun Ha Jee

13

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Philip Kuo-Ting Chen

8

Philip K Chen

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21 June 2018

Beyoung-Yun Park

12

Beyoung Yun Park

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21 June 2018

author name string

Jae Woong Sull

1

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21 June 2018

Kung-Yee Liang

2

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21 June 2018

Jacqueline B Hetmanski

3

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21 June 2018

M Daniele Fallin

4

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21 June 2018

Roxanne G Ingersoll

5

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21 June 2018

Yah-Huei Wu-Chou

7

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21 June 2018

Samuel S Chong

9

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21 June 2018

Felicia Cheah

10

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21 June 2018

Vincent Yeow

11

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21 June 2018

Richard Redett

15

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21 June 2018

Alan F Scott

16

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21 June 2018

Terri H Beaty

17

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21 June 2018

language of work or name

English

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publication date

1 September 2008

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21 June 2018

American Journal of Medical Genetics

published in

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21 June 2018

volume

146A

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21 June 2018

issue

18

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21 June 2018

page(s)

2327-2331

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21 June 2018

Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2782486

Parent-of-origin transmission of thrombophilic alleles to intrauterine growth-restricted newborns and transmission-ratio distortion in unaffected newborns

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2782486

A hybrid design for studying genetic influences on risk of diseases with onset early in life

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2782486

Assessing maternal genetic associations: a comparison of the log-linear approach to case-parent triad data and a case-control approach.

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2782486

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

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2782486

Maximum-likelihood estimation of haplotype frequencies in nuclear families

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2782486

The complex genetics of cleft lip and palate

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2782486

Genetics of cleft lip and palate: syndromic genes contribute to the incidence of non-syndromic clefts

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2782486

Parental origin of mutations in sporadic cases of Treacher Collins syndrome

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2782486

What good is genomic imprinting: the function of parent-specific gene expression

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2782486

High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2782486

Transmission/disequilibrium tests using multiple tightly linked markers

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2782486

Testing for linkage disequilibrium, maternal effects, and imprinting with (In)complete case-parent triads, by use of the computer program LEM.

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2782486

Methods for detection of parent-of-origin effects in genetic studies of case-parents triads

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2782486

A log-linear approach to case-parent-triad data: assessing effects of disease genes that act either directly or through maternal effects and that may be subject to parental imprinting

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2782486

Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2782486

Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM)

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2782486

Achondroplasia is defined by recurrent G380R mutations of FGFR3

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2782486

Highly parallel SNP genotyping

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2782486

Case/pseudocontrol analysis in genetic association studies: A unified framework for detection of genotype and haplotype associations, gene-gene and gene-environment interactions, and parent-of-origin effects.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2782486

Does the interaction between maternal folate intake and the methylenetetrahydrofolate reductase polymorphisms affect the risk of cleft lip with or without cleft palate?

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2782486

Detecting genotype combinations that increase risk for disease: maternal-fetal genotype incompatibility test.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2782486

Detection of parent-of-origin effects in nuclear families using haplotype analysis

13 August 2018

1 reference

12 December 2020

BeadArray technology: enabling an accurate, cost-effective approach to high-throughput genotyping

1 reference

12 December 2020

Family-based association analysis with tightly linked markers

1 reference

12 December 2020

Maternal Cigarette Smoking and Oral Clefts: A Meta-analysis

1 reference

12 December 2020

Cystathionine beta-synthase c.844ins68 gene variant and non-syndromic cleft lip and palate

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.A.32302

1 reference

21 June 2018

PMC publication ID

2782486

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21 June 2018

PubMed publication ID

18688869

1 reference

21 June 2018