Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations.
about
Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teethLeucine-rich repeat, immunoglobulin-like and transmembrane domain 3 (LRIT3) is a modulator of FGFR1Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and miceIGF1R variants associated with isolated single suture craniosynostosisGenetic Syndromes Associated with CraniosynostosisSignaling mechanisms implicated in cranial sutures pathophysiology: CraniosynostosisEvidence that Fgf10 contributes to the skeletal and visceral defects of an Apert syndrome mouse modelGli3Xt-J/Xt-J mice exhibit lambdoid suture craniosynostosis which results from altered osteoprogenitor proliferation and differentiationA genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9Differential growth factor adsorption to calvarial osteoblast-secreted extracellular matrices instructs osteoblastic behaviorQuantification of facial skeletal shape variation in fibroblast growth factor receptor-related craniosynostosis syndromes.Role of FGFR2-signaling in the pathogenesis of acne.Neural crest cell signaling pathways critical to cranial bone development and pathology.Evaluation and management of nonsyndromic craniosynostosis.A Korean family with the Muenke syndromeDifferential expression of extracellular matrix-mediated pathways in single-suture craniosynostosisNovel molecular pathways elicited by mutant FGFR2 may account for brain abnormalities in Apert syndrome.Pfeiffer syndrome: clinical and genetic findings in five Brazilian families.Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci.Effects of Citalopram on Sutural and Calvarial Cell Processes.Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses.Unilateral and bilateral expression of a quantitative trait: asymmetry and symmetry in coronal craniosynostosis.Unique sex-based approach identifies transcriptomic biomarkers associated with non-syndromic craniosynostosis.Prevention of premature fusion of calvarial suture in GLI-Kruppel family member 3 (Gli3)-deficient mice by removing one allele of Runt-related transcription factor 2 (Runx2).The effect of a Beare-Stevenson syndrome Fgfr2 Y394C mutation on early craniofacial bone volume and relative bone mineral density in mice.ALX4 gain-of-function mutations in nonsyndromic craniosynostosisPrevalence and complications of single-gene and chromosomal disorders in craniosynostosis.Transcriptome correlation analysis identifies two unique craniosynostosis subtypes associated with IRS1 activation.Transcriptional analysis of human cranial compartments with different embryonic origins.Activation of the IGF1 pathway mediates changes in cellular contractility and motility in single-suture craniosynostosis.Mutation Screening of Candidate Genes in Patients with Nonsyndromic Sagittal Craniosynostosis.Molecular Analysis of Twist1 and FGF Receptors in a Rabbit Model of Craniosynostosis: Likely Exclusion as the Loci of OriginGenetic analysis of vertebral trabecular bone density and cross-sectional area in older men.Understanding craniosynostosis as a growth disorderFAD104, a regulatory factor of adipogenesis, acts as a novel regulator of calvarial bone formation.Embryonic craniofacial bone volume and bone mineral density in Fgfr2(+/P253R) and nonmutant mice.Craniosynostosis: molecular pathways and future pharmacologic therapy.Hand in glove: brain and skull in development and dysmorphogenesis.Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.Diagnosis of infant synostotic and nonsynostotic cranial deformities: a review for pediatricians.
P2860
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P2860
Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations.
description
2008 nî lūn-bûn
@nan
2008 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Genetics of craniosynostosis: ...... notype-phenotype correlations.
@ast
Genetics of craniosynostosis: ...... notype-phenotype correlations.
@en
Genetics of craniosynostosis: ...... notype-phenotype correlations.
@nl
type
label
Genetics of craniosynostosis: ...... notype-phenotype correlations.
@ast
Genetics of craniosynostosis: ...... notype-phenotype correlations.
@en
Genetics of craniosynostosis: ...... notype-phenotype correlations.
@nl
prefLabel
Genetics of craniosynostosis: ...... notype-phenotype correlations.
@ast
Genetics of craniosynostosis: ...... notype-phenotype correlations.
@en
Genetics of craniosynostosis: ...... notype-phenotype correlations.
@nl
P2093
P356
P1476
Genetics of craniosynostosis: ...... notype-phenotype correlations.
@en
P2093
Andr Eacute A L Serti Eacute
Fernanda S Jehee
Roberto Fanganiello
P304
P356
10.1159/000115035
P577
2008-01-01T00:00:00Z