Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes - Wikidata - wikimedia - TriplyDB

Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes

Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes

http://www.wikidata.org/entity/Q34805442

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The Fras1/Frem family of extracellular matrix proteins: structure, function, and association with Fraser syndrome and the mouse bleb phenotype The extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermis Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects Eye pathologies in neonates Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs Genetic analysis of fin development in zebrafish identifies furin and hemicentin1 as potential novel fraser syndrome disease genes Basement membrane distortions impair lung lobation and capillary organization in the mouse model for fraser syndrome A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family.Fraser Syndrome - a Case Report and Review of Literature.Bilateral renal agenesis/hypoplasia/dysplasia (BRAHD): postmortem analysis of 45 cases with breakpoint mapping of two de novo translocations 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.Fraser syndrome-oral manifestations and a dental care protocol.Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.bfb, a novel ENU-induced blebs mutant resulting from a missense mutation in Fras1 Fraser syndrome in three consecutive siblings.AMACO is a component of the basement membrane-associated Fraser complex.Congenital anomalies of kidney and hand: a review.Cryptorchidism in the orl rat is associated with muscle patterning defects in the fetal gubernaculum and altered hormonal signaling.Expression of Fraser syndrome genes in normal and polycystic murine kidneys.Basement membrane assembly of the integrin α8β1 ligand nephronectin requires Fraser syndrome-associated proteins Evidence for additional FREM1 heterogeneity in Manitoba oculotrichoanal syndrome.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.Anesthetic management in a case of Fraser syndrome Syndactyly in a novel Fras1(rdf) mutant results from interruption of signals for interdigital apoptosis.Fraser syndrome: a new case report with review of the literature.Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis.Genetics of renal hypoplasia: insights into the mechanisms controlling nephron endowment.Delivery of anesthesia and complications for children with Fraser syndrome: a review of 125 anesthetics.Eye disorders in newborn infants (excluding retinopathy of prematurity).Congenital upper eyelid coloboma: embryologic, nomenclatorial, nosologic, etiologic, pathogenetic, epidemiologic, clinical, and management perspectives.FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome.Nephronectin plays critical roles in Sox2 expression and proliferation in dental epithelial stem cells via EGF-like repeat domains.MOTA Syndrome: Molecular Genetic Confirmation of the Diagnosis in a Newborn with Previously Unreported Clinical Features.Prenatal death in Fraser syndrome.Generation of mice with a conditional null Fraser syndrome 1 (Fras1) allele.A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux.Variable presentation of Fraser syndrome in two fetuses and a novel mutation in FRAS1.

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Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes

http://www.wikidata.org/entity/Q34805442

description

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2002 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

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Fraser syndrome and cryptophth ...... complex malformation syndromes

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Fraser syndrome and cryptophth ...... complex malformation syndromes

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Fraser syndrome and cryptophth ...... complex malformation syndromes

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Fraser syndrome and cryptophth ...... complex malformation syndromes

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Slavotinek AM

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Tifft CJ

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P2860

Cryptophthalmos: surgical treatment of the congenital symblepharon variant.

The clinical spectrum of the Fraser syndrome: report of three new cases and review.

A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression pattern

Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene

'Hard' and 'soft' principles defining the structure, function and regulation of keratin intermediate filaments

Resynthesizing evolutionary and developmental biology

Fraser syndrome with renal agenesis in two consanguineous Turkish families

Modifier genes and variation in cystic fibrosis

A polymorphic modifier gene alters the hypertrophic response in a murine model of familial hypertrophic cardiomyopathy

Congenital corneal anaesthesia and the MURCS association: a case report.

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