Friedhelm Hildebrandt


Ontology type: schema:Person     


Person Info

NAME

Friedhelm

SURNAME

Hildebrandt

Publications in SciGraph latest 50 shown

  • 2022-09-02 Nephronophthisis and Related Ciliopathies in PEDIATRIC NEPHROLOGY
  • 2022-07-01 PKD2 founder mutation is the most common mutation of polycystic kidney disease in Taiwan in NPJ GENOMIC MEDICINE
  • 2022-01-31 The utility of a genetic kidney disease clinic employing a broad range of genomic testing platforms: experience of the Irish Kidney Gene Project in JOURNAL OF NEPHROLOGY
  • 2021-11-12 Sequencing the CaSR locus in Pakistani stone formers reveals a novel loss-of-function variant atypically associated with nephrolithiasis in BMC MEDICAL GENOMICS
  • 2021-11-11 Whole exome sequencing identifies monogenic forms of nephritis in a previously unsolved cohort of children with steroid-resistant nephrotic syndrome and hematuria in PEDIATRIC NEPHROLOGY
  • 2021-09-14 Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression in SCIENTIFIC REPORTS
  • 2021-02-02 A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features in GENETICS IN MEDICINE
  • 2020-08-13 Podocytopathies in NATURE REVIEWS DISEASE PRIMERS
  • 2020-06-01 Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT) in GENETICS IN MEDICINE
  • 2020-04-01 PLCE1 regulates the migration, proliferation, and differentiation of podocytes in EXPERIMENTAL & MOLECULAR MEDICINE
  • 2019-09-03 Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome in NATURE COMMUNICATIONS
  • 2019-07-30 Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies in PEDIATRIC RHEUMATOLOGY
  • 2019-06-22 COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans in HUMAN GENETICS
  • 2019-04-17 Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children in PEDIATRIC NEPHROLOGY
  • 2019-03-29 Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature in BMC MEDICAL GENOMICS
  • 2019-03-12 Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly in NATURE COMMUNICATIONS
  • 2019-02-27 Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract in NATURE GENETICS
  • 2019-02-27 Secreted metalloproteases ADAMTS9 and ADAMTS20 have a non-canonical role in ciliary vesicle growth during ciliogenesis in NATURE COMMUNICATIONS
  • 2019-02-18 Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis in HUMAN GENETICS
  • 2018-12-21 The copy number variation landscape of congenital anomalies of the kidney and urinary tract in NATURE GENETICS
  • 2018-12-17 Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype in ORPHANET JOURNAL OF RARE DISEASES
  • 2018-07-12 Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2018-05-17 Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment in NATURE COMMUNICATIONS
  • 2017-09-21 Osteoclast stimulation factor 1 (Ostf1) KNOCKOUT increases trabecular bone mass in mice in MAMMALIAN GENOME
  • 2017-09-18 Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center in PEDIATRIC NEPHROLOGY
  • 2017-08-14 Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly in NATURE GENETICS
  • 2017-08-05 Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases in PEDIATRIC NEPHROLOGY
  • 2017-05-22 Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease in NATURE GENETICS
  • 2017-02-15 Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome in PEDIATRIC NEPHROLOGY
  • 2016-06-09 Genetics of Congenital Anomalies of the Kidneys and Urinary Tract in CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT
  • 2016-05-09 The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery in NATURE GENETICS
  • 2016-02-24 FAT1 mutations cause a glomerulotubular nephropathy in NATURE COMMUNICATIONS
  • 2016-02-15 Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome in NATURE GENETICS
  • 2016-02-08 Underlying genetic factors of the VATER/VACTERL association with special emphasis on the “Renal” phenotype in PEDIATRIC NEPHROLOGY
  • 2016-01-11 Exploring the genetic basis of early-onset chronic kidney disease in NATURE REVIEWS NEPHROLOGY
  • 2015-11-12 Nephronophthisis and Medullary Cystic Kidney Disease in Children in PEDIATRIC NEPHROLOGY
  • 2015-10-21 Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization in NATURE COMMUNICATIONS
  • 2015-09-01 Genetic dissection of kidney disorders in NATURE REVIEWS NEPHROLOGY
  • 2015-07-13 Mutations of IFT81, encoding an IFT-B core protein, as a rare cause of a ciliopathy in CILIA
  • 2015-05-31 Mutations of the SLIT2–ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract in HUMAN GENETICS
  • 2015-05-13 Nephronophthisis–Medullary Cystic Kidney Disease in Children in PEDIATRIC NEPHROLOGY
  • 2014-11-21 Nephronophthisis and Medullary Cystic Kidney Disease in Children in PEDIATRIC NEPHROLOGY
  • 2014-01-08 Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans in PEDIATRIC NEPHROLOGY
  • 2013-06-23 ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3 in NATURE GENETICS
  • 2013-04-05 Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy in HUMAN GENETICS
  • 2013-04-03 De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2012-07-08 FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair in NATURE GENETICS
  • 2012-01-15 CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium in NATURE GENETICS
  • 2011-07-03 A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition in NATURE GENETICS
  • 2011-07-01 Respiratory-chain deficiency presenting as diffuse mesangial sclerosis with NPHS3 mutation in PEDIATRIC NEPHROLOGY
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