about
A new component of the Fraser complex.Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract.Novel frem1-related mouse phenotypes and evidence of genetic interactions with gata4 and slit3.AMACO is a component of the basement membrane-associated Fraser complex.Identification of Reproduction-Related Gene Polymorphisms Using Whole Transcriptome Sequencing in the Large White Pig Population.Protein-Trap Insertional Mutagenesis Uncovers New Genes Involved in Zebrafish Skin Development, Including a Neuregulin 2a-Based ErbB Signaling Pathway Required during Median Fin Fold MorphogenesisEvidence for additional FREM1 heterogeneity in Manitoba oculotrichoanal syndrome.Glutamate Receptor Interacting Protein 1 Mediates Platelet Adhesion and Thrombus Formation.Prenatal diagnosis of Fraser syndrome: a matter of life or death?Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.Syndactyly in a novel Fras1(rdf) mutant results from interruption of signals for interdigital apoptosis.Malformation syndromes associated with disorders of sex development.Congenital upper eyelid coloboma: embryologic, nomenclatorial, nosologic, etiologic, pathogenetic, epidemiologic, clinical, and management perspectives.Genetic, environmental, and epigenetic factors involved in CAKUT.Perspectives in Pediatric Pathology, Chapter 18. Hypogonadotropic Hypogonadisms. Pediatric and Pubertal Presentations.The expanding phenotypic spectra of kidney diseases: insights from genetic studies.The contribution of branching morphogenesis to kidney development and disease.Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases.Imaging, Analysing and Interpreting Branching Morphogenesis in the Developing Kidney.Glutamate Receptor Interacting Protein 1 Regulates CD4(+) CTLA-4 Expression and Transplant Rejection.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.Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract.Genomewide association study of reproductive efficiency in female cattle.Prenatal diagnosis of Fraser syndrome using routine ultrasound examination, confirmed by exome sequencing: Report of a novel homozygous missense FRAS1 mutation.The Role of FREM2 and FRAS1 in the Development of Congenital Diaphragmatic Hernia.Novel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome.Molecular biology and genetics of embryonic eyelid development.Fraser syndrome due to mutations in GRIP1--clinical phenotype in two families and expansion of the mutation spectrum.Congenital Heart Defects and Ciliopathies Associated With Renal Phenotypes.Fraser Syndrome: Epidemiological Study in a European PopulationAblepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disordersEndoscopic Management of Lacrimal System Dysgenesis and Dacryocystoceles in Fraser Syndrome: A Case Report and Literature Review
P2860
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P2860
description
2012 nî lūn-bûn
@nan
2012 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Mutations in GRIP1 cause Fraser syndrome
@ast
Mutations in GRIP1 cause Fraser syndrome
@en
Mutations in GRIP1 cause Fraser syndrome
@nl
type
label
Mutations in GRIP1 cause Fraser syndrome
@ast
Mutations in GRIP1 cause Fraser syndrome
@en
Mutations in GRIP1 cause Fraser syndrome
@nl
prefLabel
Mutations in GRIP1 cause Fraser syndrome
@ast
Mutations in GRIP1 cause Fraser syndrome
@en
Mutations in GRIP1 cause Fraser syndrome
@nl
P2093
P50
P3181
P1476
Mutations in GRIP1 cause Fraser syndrome
@en
P2093
Ariana Kariminejad
Edward Blair
Hans Kristian Ploos van Amstel
Louise Brueton
Maartje J Vogel
Marc C van Tuil
Marleen Gijzen
Mieke M van Haelst
Patrick van Zon
Siavash Ghaderi-Sohi
P3181
P356
10.1136/JMEDGENET-2011-100590
P407
P577
2012-05-01T00:00:00Z