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Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter DevelopmentA human integrin-α3 mutation confers major renal developmental defectsSingle-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humansA new MALDI-TOF-based assay for monitoring JAK2 V617F mutation level in patients undergoing allogeneic stem cell transplantation (allo SCT) for classic myeloproliferative disorders (MPD).Keeping the heart in mind when managing hemolytic: uremic syndrome.Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract.Etiology and long-term outcome of extrahepatic portal vein obstruction in children.Exploring the genetic basis of early-onset chronic kidney disease.Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.Renal hypodysplasia associates with a WNT4 variant that causes aberrant canonical WNT signaling.Mortality risk factors associated with familial Mediterranean fever among a cohort of 1.25 million adolescents.Body mass index in 1.2 million adolescents and risk for end-stage renal disease.Hematuria and risk for end-stage kidney disease.Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases.Prehypertension among 2.19 million adolescents and future risk for end-stage renal disease.Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome.Overweight in adolescence is related to increased risk of future urothelial cancer.Cardiovascular and metabolic risk factors in inherited autoinflammation.Intracardiac thrombus and pulmonary aneurysms in an adolescent with Behçet disease.Targeted sequencing of 96 renal developmental microRNAs in 1213 individuals from 980 families with congenital anomalies of the kidney and urinary tract.Adolescent obesity and paternal country of origin predict renal cell carcinoma: a cohort study of 1.1 million 16 to 19-year-old males.Persistent asymptomatic isolated microscopic hematuria in Israeli adolescents and young adults and risk for end-stage renal disease.Congenital diaphragmatic hernia: 22 years experience in a single tertiary medical center.Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report.Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome.History of Childhood Kidney Disease and Risk of Adult End-Stage Renal Disease.A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux.Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center.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.Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic Syndrome.Familial autosomal recessive renal tubular acidosis: importance of early diagnosis.Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literatureSAT-244 The Association between Obesity and Secular Trend of Stature: A Nationwide Study of 2.8 Million Adolescents over Five Decades.
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P50
name
Asaf Vivante
@en
Asaf Vivante
@nl
type
label
Asaf Vivante
@en
Asaf Vivante
@nl
prefLabel
Asaf Vivante
@en
Asaf Vivante
@nl