Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria
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FRAS1-related extracellular matrix 3 (FREM3) single-nucleotide polymorphism effects on gene expression, amygdala reactivity and perceptual processing speed: An accelerated aging pathway of depression riskA puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family.Fraser Syndrome - a Case Report and Review of Literature.Mild 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.Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.Fraser syndrome in three consecutive siblings.Expression of Fraser syndrome genes in normal and polycystic murine kidneys.Differential gene expression in the adrenals of normal and anencephalic fetuses and studies focused on the Fras-1-related extracellular matrix protein (FREM2) gene.fras1 shapes endodermal pouch 1 and stabilizes zebrafish pharyngeal skeletal development.Prenatal diagnosis of Fraser syndrome: a matter of life or death?Sprouty1 haploinsufficiency prevents renal agenesis in a model of Fraser syndrome.Syndactyly in a novel Fras1(rdf) mutant results from interruption of signals for interdigital apoptosis.Fras1, a basement membrane-associated protein mutated in Fraser syndrome, mediates both the initiation of the mammalian kidney and the integrity of renal glomeruli.Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis.Malformation syndromes associated with disorders of sex development.Congenital upper eyelid coloboma: embryologic, nomenclatorial, nosologic, etiologic, pathogenetic, epidemiologic, clinical, and management perspectives.Embryologic and Fetal Development of the Human Eyelid.Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases.CHAOS: Prenatal imaging findings with post mortem contrast radiographic correlation5q11.2 deletion in a patient with tracheal agenesis.FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome.MOTA Syndrome: Molecular Genetic Confirmation of the Diagnosis in a Newborn with Previously Unreported Clinical Features.Genetic basis of human congenital anomalies of the kidney and urinary tract.Generation of mice with a conditional null Fraser syndrome 1 (Fras1) allele.Variable presentation of Fraser syndrome in two fetuses and a novel mutation in FRAS1.Prenatal diagnosis of Fraser syndrome using routine ultrasound examination, confirmed by exome sequencing: Report of a novel homozygous missense FRAS1 mutation.Novel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome.Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview.Fraser syndrome due to mutations in GRIP1--clinical phenotype in two families and expansion of the mutation spectrum.Fraser Syndrome: Epidemiological Study in a European PopulationEndoscopic Management of Lacrimal System Dysgenesis and Dacryocystoceles in Fraser Syndrome: A Case Report and Literature Review
P2860
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P2860
Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria
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2007 nî lūn-bûn
@nan
2007 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2007年の論文
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2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
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name
Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria
@ast
Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria
@en
Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria
@nl
type
label
Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria
@ast
Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria
@en
Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria
@nl
prefLabel
Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria
@ast
Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria
@en
Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria
@nl
P3181
P356
P1476
Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria
@en
P2093
Mieke M van Haelst
Raoul C M Hennekam
P304
P3181
P356
10.1002/AJMG.A.31951
P407
P577
2007-12-15T00:00:00Z