(Q28943389)

14 March 2017

title

A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9 (English)

1 reference

genome-wide association study

14 March 2017

main subject

0 references

0 references

1 reference

Jinoh Kim

31

0 references

Ethylin Wang Jabs

object named as

Ethylin Wang Jabs

5

0 references

Alexander F Wilson

32

object named as

Alexander F. Wilson

1 reference

Andrew Oliver Mungo Wilkie

14 March 2017

14

object named as

Andrew O. M. Wilkie

1 reference

14 March 2017

11

Virginia Kimonis

1 reference

14 March 2017

Cristina M. Justice

1

1 reference

14 March 2017

Garima Yagnik

2

1 reference

14 March 2017

Yoonhee Kim

3

1 reference

14 March 2017

Inga Peter

4

1 reference

14 March 2017

Monica Erazo

6

1 reference

14 March 2017

Xiaoqian Ye

7

1 reference

14 March 2017

Edmond Ainehsazan

8

1 reference

14 March 2017

Lisong Shi

9

1 reference

14 March 2017

Michael L. Cunningham

10

1 reference

14 March 2017

Tony Roscioli

12

1 reference

14 March 2017

Steven A. Wall

13

1 reference

14 March 2017

Joan Stoler

15

1 reference

14 March 2017

Joan T. Richtsmeier

16

1 reference

14 March 2017

Yann Heuzé

17

1 reference

14 March 2017

Pedro A. Sanchez-Lara

18

1 reference

14 March 2017

Michael F. Buckley

19

1 reference

14 March 2017

Charlotte M. Druschel

20

1 reference

14 March 2017

James L. Mills

21

1 reference

14 March 2017

Michele Caggana

22

1 reference

14 March 2017

Paul A. Romitti

23

1 reference

14 March 2017

Denise M. Kay

24

1 reference

14 March 2017

Craig Senders

25

1 reference

14 March 2017

Peter J. Taub

26

1 reference

14 March 2017

Ophir D. Klein

27

1 reference

14 March 2017

James Boggan

28

1 reference

14 March 2017

Marike Zwienenberg-Lee

29

1 reference

14 March 2017

Cyrill Naydenov

30

1 reference

14 March 2017

Simeon A. Boyadjiev

33

1 reference

14 March 2017

language of work or name

English

0 references

publication date

1 December 2012

1 reference

14 March 2017

1 reference

14 March 2017

volume

44

1 reference

14 March 2017

issue

12

1 reference

14 March 2017

page(s)

1360–1364

1 reference

describes a project that uses

14 March 2017

genome-wide association study

1 reference

based on heuristic

inferred from title

cites work

Leucine-rich repeat, immunoglobulin-like and transmembrane domain 3 (LRIT3) is a modulator of FGFR1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736322

Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736322

A unified approach to genotype imputation and haplotype-phase inference for large data sets of trios and unrelated individuals

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736322

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

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736322

RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736322

Population structure and eigenanalysis

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736322

Gli2 and Gli3 localize to cilia and require the intraflagellar transport protein polaris for processing and function

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736322

A specific requirement for PDGF-C in palate formation and PDGFR-alpha signaling

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736322

Haploview: analysis and visualization of LD and haplotype maps

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736322

Linkage of osteoporosis to chromosome 20p12 and association to BMP2

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736322

Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736322

Localization of 5-HT(6) receptors at the plasma membrane of neuronal cilia in the rat brain

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736322

Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736322

Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736322

5-HT2B receptor-mediated serotonin morphogenetic functions in mouse cranial neural crest and myocardiac cells

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736322

Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736322

A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736322

PDGFRalphaalpha signaling is regulated through the primary cilium in fibroblasts

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736322

ALX4 gain-of-function mutations in nonsyndromic craniosynostosis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736322

Rapid testing of SNPs and gene-environment interactions in case-parent trio data based on exact analytic parameter estimation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736322

Folate and vitamin B12-related genes and risk for omphalocele

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736322

An epidemiological study of nonsyndromal craniosynostoses

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736322

The role of NELL-1, a growth factor associated with craniosynostosis, in promoting bone regeneration

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736322

Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736322

BMP2 signaling in bone development and repair

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736322

Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736322

FGF signalling during embryo development regulates cilia length in diverse epithelia

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736322

Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736322

Genetics of craniosynostosis

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736322

Bardet-Biedl syndrome: beyond the cilium.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736322

Hedgehog signaling in skeletal development

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736322

Cilia: tuning in to the cell's antenna.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736322

Epistasis: what it means, what it doesn't mean, and statistical methods to detect it in humans

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736322

Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736322

Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736322

Adaptation of the extended transmission/disequilibrium test to distinguish disease associations of multiple loci: the Conditional Extended Transmission/Disequilibrium Test

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736322

Maternal smoking and craniosynostosis

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736322

Epidermal growth factor receptor function is necessary for normal craniofacial development and palate closure

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736322

Maternal exposure to prescription and non-prescription pharmaceuticals or drugs of abuse and risk of craniosynostosis

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736322

Syndromal and nonsyndromal primary trigonocephaly: analysis of a series of 237 patients

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736322

Genetic study of scaphocephaly

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736322

A novel mutation, Ala315Ser, in FGFR2: a gene–environment interaction leading to craniosynostosis?

3 June 2018

1 reference

Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations

21 January 2018

1 reference

Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome.

21 January 2018

1 reference

Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis

21 January 2018

1 reference

Clinical dividends from the molecular genetic diagnosis of craniosynostosis.

21 January 2018

1 reference

Copy number variation analysis in single-suture craniosynostosis: multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis.

21 January 2018

1 reference

Genetic basis of potential therapeutic strategies for craniosynostosis

21 January 2018

1 reference

Fetal constraint as a potential risk factor for craniosynostosis

21 January 2018

1 reference

Genetic and environmental risk factors for sagittal craniosynostosis

21 January 2018

1 reference

Pedigree disequilibrium tests for multilocus haplotypes.

21 January 2018

1 reference

Nell1-deficient mice have reduced expression of extracellular matrix proteins causing cranial and vertebral defects

21 January 2018

1 reference

PKD2 functions as an epidermal growth factor-activated plasma membrane channel

21 January 2018

1 reference

A novel mutation in theMSX2 gene in a family with foramina parietalia permagna (FPP)

21 January 2018

1 reference

Genetic considerations in nonsyndromic midline craniosynostoses: a study of twins and their families

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3736322

Integrating case-control and TDT studies

26 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/23160099

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.2463

1 reference

1 reference

1 reference

1 reference