Traditional and targeted exome sequencing reveals common, rare and novel functional deleterious variants in RET-signaling complex in a cohort of living US patients with urinary tract malformations.
about
Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humansLower urinary tract development and diseaseTargeted exome sequencing integrated with clinicopathological information reveals novel and rare mutations in atypical, suspected and unknown cases of Alport syndrome or proteinuriaThe prevalence and epidemiology of genetic renal disease amongst adults with chronic kidney disease in Australia.Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.Mutations in the leukemia inhibitory factor receptor (LIFR) gene and Lifr deficiency cause urinary tract malformations.Genetics of Vesicoureteral Reflux.Re-Punching Tissue Microarrays Is Possible: Why Can This Be Useful and How to Do It.A patient with MEN1 typical features and MEN2-like features.To bud or not to bud: the RET perspective in CAKUT.Medullary sponge kidney: state of the art.Renin-angiotensin system in ureteric bud branching morphogenesis: implications for kidney disease.Genetic, environmental, and epigenetic factors involved in CAKUT.Routine use of clinical exome-based next-generation sequencing for evaluation of patients with thrombotic microangiopathies.Prorenin receptor controls renal branching morphogenesis via Wnt/β-catenin signaling.Genetics of Congenital Anomalies of the Kidney and Urinary Tract: The Current State of Play.Developmental Genetics and Congenital Anomalies of the Kidney and Urinary Tract.Hippo signaling in the kidney: the good and the bad.Renal development in the fetus and premature infant.Genetic Syndromes Affecting Kidney Development.Genetics of vesicoureteral reflux and congenital anomalies of the kidney and urinary tract.Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Renal Agenesis.Involvement of the bone morphogenic protein/SMAD signaling pathway in the etiology of congenital anomalies of the kidney and urinary tract accompanied by cryptorchidism.Targeting RET-driven cancers: lessons from evolving preclinical and clinical landscapes.Reciprocal Spatiotemporally Controlled Apoptosis Regulates Wolffian Duct Cloaca Fusion.Pathogenic Germline Variants in 10,389 Adult Cancers.Whole-exome sequencing for prenatal diagnosis of fetuses with congenital anomalies of the kidney and urinary tract.
P2860
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P2860
Traditional and targeted exome sequencing reveals common, rare and novel functional deleterious variants in RET-signaling complex in a cohort of living US patients with urinary tract malformations.
description
2012 nî lūn-bûn
@nan
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
2012年论文
@zh
2012年论文
@zh-cn
name
Traditional and targeted exome ...... h urinary tract malformations.
@ast
Traditional and targeted exome ...... h urinary tract malformations.
@en
type
label
Traditional and targeted exome ...... h urinary tract malformations.
@ast
Traditional and targeted exome ...... h urinary tract malformations.
@en
prefLabel
Traditional and targeted exome ...... h urinary tract malformations.
@ast
Traditional and targeted exome ...... h urinary tract malformations.
@en
P2093
P2860
P50
P1433
P1476
Traditional and targeted exome ...... h urinary tract malformations.
@en
P2093
Daniel R Martin
Doug Coplen
Enrique Ramos
Helen Liapis
Jessica VanWinkle
Keith Hruska
Mary Hoffman
Paul Austin
Rajshekhar Chatterjee
P2860
P2888
P304
P356
10.1007/S00439-012-1181-3
P577
2012-06-23T00:00:00Z