Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract.
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Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter DevelopmentExploring the genetic basis of early-onset chronic kidney disease.Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract.Actualizing the Benefits of Genomic Discovery in Pediatric Nephrology.HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum.Congenital anomalies of the kidney and urinary tract genetics in mice and men.Genetic, environmental, and epigenetic factors involved in CAKUT.Genetics of Congenital Anomalies of the Kidney and Urinary Tract: The Current State of Play.The expanding phenotypic spectra of kidney diseases: insights from genetic studies.Renal development in the fetus and premature infant.Genetic Syndromes Affecting Kidney Development.Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Renal Agenesis.Gene-Disease Interaction Retrieval from Multiple Sources: A Network Based Method.Glutamate Receptor Interacting Protein 1 Regulates CD4(+) CTLA-4 Expression and Transplant Rejection.Targeted sequencing of 96 renal developmental microRNAs in 1213 individuals from 980 families with congenital anomalies of the kidney and urinary tract.Pharyngeal morphogenesis requires fras1-itga8-dependent epithelial-mesenchymal interaction.Involvement of the bone morphogenic protein/SMAD signaling pathway in the etiology of congenital anomalies of the kidney and urinary tract accompanied by cryptorchidism.Genomic medicine for kidney disease.Identification of direct negative crosstalk between the SLIT2 and Bone Morphogenetic Protein-Gremlin signaling pathways.Genetic basis of human congenital anomalies of the kidney and urinary tract.Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report.A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux.Towards precision nephrology: the opportunities and challenges of genomic medicine.Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract.Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract.Disruption of Gen1 Causes Congenital Anomalies of the Kidney and Urinary Tract in Mice.Copy-number variation associated with congenital anomalies of the kidney and urinary tract.Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic Syndrome.Etiologies of uterine malformations.Missing Links Between Genetically Inherited Molecules in Split Cord Malformation and Other Anomaly: A Bench to Bedside Approach.Urinary Anomalies in 22q11.2 Deletion (DiGeorge syndrome): From Copy Number Variations to Single-Gene Determinants of Phenotype.
P2860
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P2860
Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract.
description
2014 nî lūn-bûn
@nan
2014 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Mild recessive mutations in si ...... the kidney and urinary tract.
@ast
Mild recessive mutations in si ...... the kidney and urinary tract.
@en
Mild recessive mutations in si ...... the kidney and urinary tract.
@nl
type
label
Mild recessive mutations in si ...... the kidney and urinary tract.
@ast
Mild recessive mutations in si ...... the kidney and urinary tract.
@en
Mild recessive mutations in si ...... the kidney and urinary tract.
@nl
prefLabel
Mild recessive mutations in si ...... the kidney and urinary tract.
@ast
Mild recessive mutations in si ...... the kidney and urinary tract.
@en
Mild recessive mutations in si ...... the kidney and urinary tract.
@nl
P2093
P2860
P356
P1476
Mild recessive mutations in si ...... the kidney and urinary tract.
@en
P2093
Alina C Hilger
Daw-Yang Hwang
Elijah O Kehinde
Friedhelm Hildebrandt
Gabriel C Dworschak
Heiko M Reutter
Natasa Stajic
Pawaree Saisawat
Radovan Bogdanovic
Stefan Kohl
P2860
P304
P356
10.1681/ASN.2013101103
P50
P577
2014-04-03T00:00:00Z