FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome.
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Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humansHeterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and miceGenetic analysis of fin development in zebrafish identifies furin and hemicentin1 as potential novel fraser syndrome disease genesThe fetal magnetic resonance imaging experience in a large community medical centerBilateral renal agenesis/hypoplasia/dysplasia (BRAHD): postmortem analysis of 45 cases with breakpoint mapping of two de novo translocationsMild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract.Renal malformations associated with mutations of developmental genes: messages from the clinic.Novel frem1-related mouse phenotypes and evidence of genetic interactions with gata4 and slit3.Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.AMACO is a component of the basement membrane-associated Fraser complex.Expression of Fraser syndrome genes in normal and polycystic murine kidneys.Basement membrane assembly of the integrin α8β1 ligand nephronectin requires Fraser syndrome-associated proteinsEvidence for additional FREM1 heterogeneity in Manitoba oculotrichoanal syndrome.fras1 shapes endodermal pouch 1 and stabilizes zebrafish pharyngeal skeletal development.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 PDGFRαHomozygosity mapping: one more tool in the clinical geneticist's toolbox.Pathology in metopic synostosis.Congenital upper eyelid coloboma: embryologic, nomenclatorial, nosologic, etiologic, pathogenetic, epidemiologic, clinical, and management perspectives.Genetic, environmental, and epigenetic factors involved in CAKUT.Embryologic and Fetal Development of the Human Eyelid.Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2.The contribution of branching morphogenesis to kidney development and disease.Imaging, Analysing and Interpreting Branching Morphogenesis in the Developing Kidney.Pharyngeal morphogenesis requires fras1-itga8-dependent epithelial-mesenchymal interaction.MOTA Syndrome: Molecular Genetic Confirmation of the Diagnosis in a Newborn with Previously Unreported Clinical Features.FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification?Genetic basis of human congenital anomalies of the kidney and urinary tract.Novel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome.GWAS reveals loci associated with velopharyngeal dysfunction.Oculoauriculofrontonasal syndrome: Case series revealing new bony nasal anomalies in an old syndromeAblepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders
P2860
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P2860
FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome.
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
2009年论文
@zh
2009年论文
@zh-cn
name
FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome.
@en
type
label
FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome.
@en
prefLabel
FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome.
@en
P2093
P2860
P1476
FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome.
@en
P2093
Anand Saggar
Anas M Alazami
Bernd Brinkmann
Fatema Alzahrani
Katie Snape
Lihadh I Al-Gazali
Prashant Bavi
Ranad Shaheen
P2860
P304
P356
10.1016/J.AJHG.2009.08.010
P407
P577
2009-09-01T00:00:00Z