A review of Donnai-Barrow and facio-oculo-acoustico-renal (DB/FOAR) syndrome: clinical features and differential diagnosis
about
Epidemiology, genetics and treatments for myopiaMolecular pathogenesis of congenital diaphragmatic hernia revealed by exome sequencing, developmental data, and bioinformatics.Ectopic germinal center and megalin defect in primary Sjogren syndrome with renal Fanconi syndrome.Mutations in zebrafish lrp2 result in adult-onset ocular pathogenesis that models myopia and other risk factors for glaucomaWhole exome sequencing of extreme morbid obesity patients: translational implications for obesity and related disordersGenetic causes of congenital diaphragmatic herniaThe visual system of zebrafish and its use to model human ocular diseases.EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model.Common arterial trunk and ventricular non-compaction in Lrp2 knockout mice indicate a crucial role of LRP2 in cardiac development.Membrane transporters in a human genome-scale metabolic knowledgebase and their implications for disease.Cochlear implantation in Donnai-Barrow syndrome.Melanoma tumors frequently acquire LRP2/megalin expression, which modulates melanoma cell proliferation and survival rates.The endocytic receptor megalin and its associated proteins in proximal tubule epithelial cells.Megalin-deficiency causes high myopia, retinal pigment epithelium-macromelanosomes and abnormal development of the ciliary body in mice.Assessment and Treatment of Self-Injurious Behavior Associated with Donnai-Barrow Syndrome.Gene screening facilitates diagnosis of complicated symptoms: A case report.In-depth phenotyping of a Donnai-Barrow patient helps clarify proximal tubule dysfunction.Broadening the phenotype of LRP2 mutations: a new mutation in LRP2 causes a predominantly ocular phenotype suggestive of Stickler syndrome.Mouse model of proximal tubule endocytic dysfunction.Hypercalciuria and nephrolithiasis: Expanding the renal phenotype of Donnai-Barrow syndrome.Prevention of neural tube defects in Lrp2 mutant mouse embryos by folic acid supplementation.
P2860
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P2860
A review of Donnai-Barrow and facio-oculo-acoustico-renal (DB/FOAR) syndrome: clinical features and differential diagnosis
description
2009 nî lūn-bûn
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2009 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2009年の論文
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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
name
A review of Donnai-Barrow and ...... res and differential diagnosis
@ast
A review of Donnai-Barrow and ...... res and differential diagnosis
@en
A review of Donnai-Barrow and ...... res and differential diagnosis
@nl
type
label
A review of Donnai-Barrow and ...... res and differential diagnosis
@ast
A review of Donnai-Barrow and ...... res and differential diagnosis
@en
A review of Donnai-Barrow and ...... res and differential diagnosis
@nl
prefLabel
A review of Donnai-Barrow and ...... res and differential diagnosis
@ast
A review of Donnai-Barrow and ...... res and differential diagnosis
@en
A review of Donnai-Barrow and ...... res and differential diagnosis
@nl
P2093
P2860
P356
P1476
A review of Donnai-Barrow and ...... res and differential diagnosis
@en
P2093
Barbara R Pober
Kristin M Noonan
Mauro Longoni
P2860
P356
10.1002/BDRA.20534
P407
P577
2009-01-01T00:00:00Z