Physician

Pediatric Nephrology

Friedhelm Hildebrandt works in the field of Pediatric Nephrology. He over the years received 1 awards: "Investigator". Friedhelm Hildebrandt is also published. He has 38 publications published. The lastest publication: "Targeted sequencing of 96 renal developmental microRNAs in 1213 individuals from 980 families with congenital anomalies of the kidney and urinary tract.'

Publications

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• Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies.
• Exploring the genetic basis of early-onset Chronic kidney disease.
• Targeted sequencing of 96 renal developmental microRNAs in 1213 individuals from 980 families with congenital anomalies of the Kidney and urinary tract.
• WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.
• Decade in review-genetics of Kidney diseases: Genetic dissection of Kidney disorders.
• Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased Renal echogenicity.
• MKS1 regulates ciliary INPP5E levels in Joubert Syndrome.
• Genetic testing in steroid-resistant nephrotic Syndrome: when and how?
• Loss of Epithelial Membrane Protein 2 Aggravates Podocyte Injury via Upregulation of Caveolin-1.
• Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development.
• DCDC2 mutations cause a Renal-hepatic ciliopathy by disrupting Wnt signaling.
• Phospholipase C epsilon-induced TRPC6 activation: A common but redundant mechanism in primary podocytes.
• Fourteen Monogenic Genes Account for 15% of Nephrolithiasis/Nephrocalcinosis.
• Mutations in EMP2 Cause Childhood-Onset Nephrotic Syndrome.
• Mild Recessive Mutations in Six Fraser Syndrome-Related Genes Cause Isolated Congenital Anomalies of the Kidney and Urinary Tract.
• Renal-Retinal Ciliopathy Gene Sdccag8 Regulates DNA Damage Response Signaling.
• Rapid Detection of Monogenic Causes of Childhood-Onset Steroid-Resistant Nephrotic Syndrome.
• Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with a Unique Clinical and Ciliary Phenotype.
• Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the Kidney and urinary tract.
• Mutations in CSPP1 Lead to Classical Joubert Syndrome.
• Single-gene causes of congenital anomalies of the Kidney and urinary tract (CAKUT) in humans.
• Whole-exome resequencing distinguishes cystic Kidney diseases from phenocopies in renal ciliopathies.
• Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association.
• Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans.
• Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.
• Mutations in SPAG1 Cause Primary Ciliary Dyskinesia Associated with Defective Outer and Inner Dynein Arms.
• ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6.
• Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
• De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association.
• Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling.
• 3D-SPHEROID DEFECTS IN NPHP KNOCKDOWN CELLS ARE RESCUED BY THE SOMATOSTATIN AGONIST OCTREOTIDE.
• FAN1 mutations cause karyomegalic interstitial nephritis, linking Chronic kidney failure to defective DNA damage repair.
• Inducible podocyte injury and proteinuria in transgenic zebrafish.
• Mutation Analysis of NPHS1 in a Worldwide Cohort of Congenital Nephrotic Syndrome Patients.
• Specific podocin mutations determine age of onset of nephrotic Syndrome all the way into adult life.
• Nephronophthisis: Disease mechanisms of a ciliopathy.
• Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization.

Schools

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• RuprechtKarlsUniversitaet Heidelberg Medizinische Gesamtfakultat

Procedures Preformed

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• Hemodialysis

Conditions Treated

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• Acidosis
• Chronic Kidney Diseases
• End-Stage Renal Disease
• HepatoRenal Syndrome
• View All

Doctors Specialties

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• Pediatric Nephrology

Accepted Insurances

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Awards

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• Investigator

Helpful Reviews

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