Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice
about
A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9Novel frem1-related mouse phenotypes and evidence of genetic interactions with gata4 and slit3.Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability.Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses.Evidence for additional FREM1 heterogeneity in Manitoba oculotrichoanal syndrome.Characterization of a complex rearrangement involving duplication and deletion of 9p in an infant with craniofacial dysmorphism and cardiac anomalies.Sprouty1 haploinsufficiency prevents renal agenesis in a model of Fraser syndrome.Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.Regulation of PDGFC signalling and extracellular matrix composition by FREM1 in mice.PDGFRβ regulates craniofacial development through homodimers and functional heterodimers with PDGFRαThe role of vertebrate models in understanding craniosynostosis.Pathology in metopic synostosis.Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2.MOTA Syndrome: Molecular Genetic Confirmation of the Diagnosis in a Newborn with Previously Unreported Clinical Features.MAPK/ERK Signaling Pathway Analysis in Primary Osteoblasts From Patients With Nonsyndromic Sagittal Craniosynostosis.Methylenetetrahydrofolate reductase C677T variant in Indian children with craniosynostosis: Its role in the pathogenesis, risk of craniosynostosis.Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as Examples.A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.BBS9 gene in nonsyndromic craniosynostosis: Role of the primary cilium in the aberrant ossification of the suture osteogenic niche.Novel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome.Genetic advances in craniosynostosis.Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome.GWAS reveals loci associated with velopharyngeal dysfunction.Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardationRing chromosome 9 in a girl with developmental delay and dysmorphic features: case report and review of the literatureOculoauriculofrontonasal syndrome: Case series revealing new bony nasal anomalies in an old syndrome
P2860
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P2860
Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice
description
2011 nî lūn-bûn
@nan
2011 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Heterozygous mutations of FREM ...... osynostosis in humans and mice
@ast
Heterozygous mutations of FREM ...... osynostosis in humans and mice
@en
Heterozygous mutations of FREM ...... osynostosis in humans and mice
@en-gb
Heterozygous mutations of FREM ...... osynostosis in humans and mice
@nl
type
label
Heterozygous mutations of FREM ...... osynostosis in humans and mice
@ast
Heterozygous mutations of FREM ...... osynostosis in humans and mice
@en
Heterozygous mutations of FREM ...... osynostosis in humans and mice
@en-gb
Heterozygous mutations of FREM ...... osynostosis in humans and mice
@nl
prefLabel
Heterozygous mutations of FREM ...... osynostosis in humans and mice
@ast
Heterozygous mutations of FREM ...... osynostosis in humans and mice
@en
Heterozygous mutations of FREM ...... osynostosis in humans and mice
@en-gb
Heterozygous mutations of FREM ...... osynostosis in humans and mice
@nl
P2093
P2860
P50
P921
P1433
P1476
Heterozygous mutations of FREM ...... osynostosis in humans and mice
@en
P2093
Carlo Marcelis
Fenny Wiradjaja
Fernanda Jehee
Garima Yagnik
Irene M Janssen
Kiyotoshi Sekiguchi
Maria Rita Passos-Bueno
Michael F Buckley
P2860
P304
P356
10.1371/JOURNAL.PGEN.1002278
P407
P50
P577
2011-09-08T00:00:00Z