HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort. - Wikidata - awgldk - TriplyDB

HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort.

HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort.

http://www.wikidata.org/entity/Q35670536

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Mutations in DSTYK and dominant urinary tract malformations The Good and Bad of β-Catenin in Kidney Development and Renal Dysplasia Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans Genetic epidemiology and nonsyndromic structural birth defects: from candidate genes to epigenetics Lower urinary tract development and disease Screening of Living Kidney Donors for Genetic Diseases Using a Comprehensive Genetic Testing Strategy.Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.Copy-number variation analysis in familial nonsyndromic congenital anomalies of the kidney and urinary tract: Evidence for the causative role of a transposable element-associated genomic rearrangement.Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract.A complex microdeletion 17q12 phenotype in a patient with recurrent de novo membranous nephropathy.A retrotransposon insertion in the 5' regulatory domain of Ptf1a results in ectopic gene expression and multiple congenital defects in Danforth's short tail mouse.Copy-number disorders are a common cause of congenital kidney malformations Renal hypodysplasia associates with a WNT4 variant that causes aberrant canonical WNT signaling.Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney.A wide spectrum of phenotypes in a family with renal coloboma syndrome caused by a PAX2 mutation.Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder.PAX2 in human kidney malformations and disease.Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.Hnf1beta and nephron segmentation.Clinical implications of the solitary functioning kidney.HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum.HNF1B-associated clinical phenotypes: the kidney and beyond.Genetic, environmental, and epigenetic factors involved in CAKUT.Whole exome sequencing: a state-of-the-art approach for defining (and exploring!) genetic landscapes in pediatric nephrology.Genetics of Congenital Anomalies of the Kidney and Urinary Tract: The Current State of Play.Congenital Anomalies of the Kidney and Urinary Tract in Children Born Small for Gestational Age.Lessons learned from a multidisciplinary renal genetics clinic.Developmental Genetics and Congenital Anomalies of the Kidney and Urinary Tract.The expanding phenotypic spectra of kidney diseases: insights from genetic studies.Hand2 inhibits kidney specification while promoting vein formation within the posterior mesoderm.Genetic Syndromes Affecting Kidney Development.Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.Genetic basis of human congenital anomalies of the kidney and urinary tract.Towards precision nephrology: the opportunities and challenges of genomic medicine.Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.Copy-number variation associated with congenital anomalies of the kidney and urinary tract.Hnf1b and Pax2 cooperate to control different pathways in kidney and ureter morphogenesis.Assessment of the HNF1B Score as a Tool to Select Patients for HNF1B Genetic Testing.De novo HNF1 homeobox B mutation as a cause for chronic, treatment-resistant hypomagnesaemia.PAX2 polymorphisms and congenital abnormalities of the kidney and urinary tract in a Brazilian pediatric population: evidence for a role in vesicoureteral reflux

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P2860

HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort.

http://www.wikidata.org/entity/Q35670536

description

2011 nî lūn-bûn

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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2011年论文

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2011年论文

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name

HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort.

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HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort.

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type

label

HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort.

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HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort.

@en

prefLabel

HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort.

@ast

HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort.

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Pediatric Nephrology

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Ali G Gharavi

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Bradley A Warady

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Frederick J Kaskel

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Rosemary Thomas

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Simone Sanna-Cherchi

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Susan L Furth

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P2860

Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study

Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations

Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

T-Coffee: A novel method for fast and accurate multiple sequence alignment

Mutation of hepatocyte nuclear factor-1beta inhibits Pkhd1 gene expression and produces renal cysts in mice

SIFT: Predicting amino acid changes that affect protein function

Human non-synonymous SNPs: server and survey

ESEfinder: A web resource to identify exonic splicing enhancers

Listening to silence and understanding nonsense: exonic mutations that affect splicing

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