Friedhelm Hildebrandt

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#7760

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#11012

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#4795

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#6124

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Philosophy

Friedhelm Hildebrandt's Degrees

Doctorate Medicine University of Cologne
PhD Genetics University of Cologne

Why Is Friedhelm Hildebrandt Influential?

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According to Wikipedia, Friedhelm Hildebrandt is the William E. Harmon Professor of Pediatrics at Harvard Medical School and Chief of the Division of Nephrology at Boston Children's Hospital. He was formerly an Investigator of the Howard Hughes Medical Institute and the Frederick G.L. Huetwell Professor of Pediatrics at the University of Michigan.

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Friedhelm Hildebrandt's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination (2003) (625)
A Transition Zone Complex Regulates Mammalian Ciliogenesis and Ciliary Membrane Composition (2011) (594)
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4 (2006) (560)
Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways (2011) (559)
Barttin is a Cl- channel β-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion (2001) (535)
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left–right asymmetry (2002) (515)
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible (2006) (511)
Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure (2001) (475)
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome (2007) (466)
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. (2015) (453)
A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface (2015) (408)
Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome. (2004) (397)
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin (2005) (379)
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. (2004) (377)
In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse. (2006) (375)
Nephrotic Syndrome in the First Year of Life: Two Thirds of Cases Are Caused by Mutations in 4 Genes (NPHS1, NPHS2, WT1, and LAMB2) (2007) (363)
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. (2008) (358)
Nephronophthisis-associated ciliopathies. (2007) (357)
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis (2003) (352)
HomozygosityMapper—an interactive approach to homozygosity mapping (2009) (350)
Nephronophthisis: disease mechanisms of a ciliopathy. (2009) (342)
Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling (2012) (341)
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. (2011) (338)
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum (2011) (337)
Centrosomes and cilia in human disease. (2011) (334)
A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1 (1997) (334)
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy (2010) (316)
Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease? (2005) (316)
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies (2009) (275)
Genetic kidney diseases (2010) (274)
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. (2013) (273)
Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome. (2000) (262)
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes (2010) (261)
Exploring the genetic basis of early-onset chronic kidney disease (2016) (247)
Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome. (2002) (233)
MYO1E mutations and childhood familial focal segmental glomerulosclerosis. (2011) (229)
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. (2008) (228)
Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis (2007) (218)
A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. (2002) (210)
NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis. (2008) (208)
Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract (2014) (200)
ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling. (2013) (199)
FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair (2012) (197)
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy (2013) (189)
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. (2013) (188)
Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. (2006) (186)
Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia. (2013) (184)
Integrin α3 mutations with kidney, lung, and skin disease. (2012) (183)
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. (2013) (178)
Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome. (2007) (171)
Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. (2014) (171)
Mutations in the human laminin β2 (LAMB2) gene and the associated phenotypic spectrum a (2010) (170)
Genetic testing in steroid-resistant nephrotic syndrome: when and how? (2016) (169)
Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans (2014) (169)
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3 (2013) (166)
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium (2011) (164)
A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred Populations (2009) (160)
A Novel TRPC6 Mutation That Causes Childhood FSGS (2009) (159)
Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. (2010) (158)
Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome. (1998) (157)
Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity. International Collaborative Study Group for Bartter-like Syndromes. (1997) (156)
Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis. (2015) (156)
KANK deficiency leads to podocyte dysfunction and nephrotic syndrome. (2015) (155)
Linkage and allelic association of atopy and markers flanking the IL4‐receptor gene (1998) (143)
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy (2010) (140)
Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS). (2007) (139)
Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome. (2008) (139)
Evidence of oligogenic inheritance in nephronophthisis. (2007) (135)
Mutations in nuclear pore genes NUP93, NUP205, and XPO5 cause steroid resistant nephrotic syndrome (2016) (134)
DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN. (2013) (134)
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly (2017) (133)
Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome. (2018) (132)
Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate gene. (2000) (132)
Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. (2013) (132)
Monogenic causes of chronic kidney disease in adults. (2019) (130)
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11) (2009) (130)
Podocytopathies (2020) (129)
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency (2017) (126)
Characterization of mesonephric development and regeneration using transgenic zebrafish. (2010) (125)
Mutations in the Wilms' Tumor 1 Gene Cause Isolated Steroid Resistant Nephrotic Syndrome and Occur in Exons 8 and 9 (2006) (125)
Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome. (2004) (125)
The copy number variation landscape of congenital anomalies of the kidney and urinary tract (2018) (121)
A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p (1993) (121)
Nephrocystin interacts with Pyk2, p130Cas, and tensin and triggers phosphorylation of Pyk2 (2001) (119)
Inducible podocyte injury and proteinuria in transgenic zebrafish. (2012) (118)
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis. (2018) (115)
Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease (2017) (115)
Mutations in FN1 cause glomerulopathy with fibronectin deposits (2008) (113)
Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract. (2018) (112)
Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. (2010) (111)
Spectrum of clinical diseases caused by disorders of primary cilia. (2011) (108)
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery (2016) (107)
AHI1 is required for outer segment development and is a modifier for retinal degeneration in nephronophthisis (2010) (106)
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies. (2011) (103)
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome (2015) (103)
Induction and intracellular localization of HSP-72 after renal ischemia. (1992) (103)
Whole exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association (2013) (102)
Mutations in EMP2 cause childhood-onset nephrotic syndrome. (2014) (102)
Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior–Løken syndrome (2007) (101)
Cyclosporin A is superior to cyclophosphamide in children with steroid-resistant nephrotic syndrome—a randomized controlled multicentre trial by the Arbeitsgemeinschaft für Pädiatrische Nephrologie (2008) (99)
FAT1 mutations cause a glomerulotubular nephropathy (2016) (97)
Molecular genetics of nephronophthisis and medullary cystic kidney disease. (2000) (97)
Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome (2005) (97)
Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree. (2000) (97)
The nephronophthisis complex: clinical and genetic aspects (1992) (96)
Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis. (2007) (95)
Defects of CRB2 cause steroid-resistant nephrotic syndrome. (2015) (93)
Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis. (2016) (92)
Clinical Features and Histology of Apolipoprotein L1-Associated Nephropathy in the FSGS Clinical Trial. (2015) (92)
Molecular genetic identification of families with juvenile nephronophthisis type 1: rate of progression to renal failure. APN Study Group. Arbeitsgemeinschaft für Pädiatrische Nephrologie. (1997) (92)
Genetic Drivers of Kidney Defects in the DiGeorge Syndrome (2017) (91)
Mutation analysis in Bardet–Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals (2010) (91)
Mechanisms of Nephronophthisis and Related Ciliopathies (2010) (91)
Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract. (2014) (91)
Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing (2008) (89)
Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS). (2010) (88)
Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria. (2011) (88)
Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus (2012) (87)
Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis. (2000) (87)
Mutations of CEP83 cause infantile nephronophthisis and intellectual disability. (2014) (86)
TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone (2015) (86)
DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling. (2015) (86)
Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains. (2003) (84)
Familial juvenile hyperuricemic nephropathy and autosomal dominant medullary cystic kidney disease type 2: two facets of the same disease? (2001) (84)
Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients. (2019) (82)
Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. (2008) (81)
Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations. (2010) (81)
Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis. (2012) (80)
Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract. (2017) (79)
Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization (2015) (79)
Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment (2018) (78)
New insights: nephronophthisis-medullary cystic kidney disease (2001) (78)
The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes (2015) (77)
Clinical and genetic evaluation of familial steroid-responsive nephrotic syndrome in childhood. (2001) (77)
Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome (2017) (76)
Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome. (2014) (75)
Genetic and physical interaction between the NPHP5 and NPHP6 gene products. (2008) (75)
Mutations in CSPP1 lead to classical Joubert syndrome. (2014) (73)
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity (2015) (72)
Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping (2009) (71)
No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations (2004) (70)
The retinitis pigmentosa protein RP2 interacts with polycystin 2 and regulates cilia-mediated vertebrate development. (2010) (70)
A Multi-layered Quantitative In Vivo Expression Atlas of the Podocyte Unravels Kidney Disease Candidate Genes (2018) (69)
Whole exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies (2013) (67)
Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency☆ (2014) (67)
Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development. (2015) (67)
Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract. (2017) (67)
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome (2018) (65)
Recessive NPHS2 (Podocin) mutations are rare in adult-onset idiopathic focal segmental glomerulosclerosis. (2006) (63)
Nephronophthisis-Associated CEP164 Regulates Cell Cycle Progression, Apoptosis and Epithelial-to-Mesenchymal Transition (2014) (63)
Renal-retinal ciliopathy gene Sdccag8 regulates DNA damage response signaling. (2014) (63)
Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families. (2002) (61)
Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies. (2017) (60)
Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis (2005) (60)
Modeling Monogenic Human Nephrotic Syndrome in the Drosophila Garland Cell Nephrocyte. (2017) (59)
Mutation of the Mg2+ transporter SLC41A1 results in a nephronophthisis-like phenotype. (2013) (59)
Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36. (2002) (58)
Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression. (2010) (57)
Mapping of a gene for familial juvenile nephronophthisis: refining the map and defining flanking markers on chromosome 2. APN Study Group. (1993) (57)
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. (2017) (56)
Two novel mutations of the gene for Kir 1.1 (ROMK) in neonatal Bartter syndrome (1998) (55)
Secondary Nephrogenic Diabetes Insipidus as a Complication of Inherited Renal Diseases (2010) (55)
Mutations of the SLIT2–ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract (2015) (55)
Nephrocystin-3 is required for ciliary function in zebrafish embryos. (2010) (54)
SDCCAG8 Regulates Pericentriolar Material Recruitment and Neuronal Migration in the Developing Cortex (2014) (54)
Molecular cloning of the interleukin-1 gene cluster: construction of an integrated YAC/PAC contig and a partial transcriptional map in the region of chromosome 2q13. (1997) (53)
WDR19: An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior‐Loken syndrome (2013) (53)
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73 (2015) (52)
Specific podocin mutations determine age of onset of nephrotic syndrome all the way into adult life. (2009) (52)
Low prevalence of NPHS2 mutations in African American children with steroid-resistant nephrotic syndrome (2008) (51)
Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome (2019) (51)
Hereditary isolated renal magnesium loss maps to chromosome 11q23. (1999) (50)
Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis (2003) (49)
Nephrocystin: gene expression and sequence conservation between human, mouse, and Caenorhabditis elegans. (2000) (49)
A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3 (2003) (48)
Human adolescent nephronophthisis: gene locus synteny with polycystic kidney disease in pcy mice. (2001) (46)
Personalized medicine in chronic kidney disease by detection of monogenic mutations. (2019) (46)
The Uromodulin C744G mutation causes MCKD2 and FJHN in children and adults and may be due to a possible founder effect. (2007) (46)
Healthcare recommendations for Joubert syndrome (2019) (46)
Establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis. (2001) (44)
Mutations in COQ8B (ADCK4) found in patients with steroid‐resistant nephrotic syndrome alter COQ8B function (2017) (44)
Jouberin localizes to collecting ducts and interacts with nephrocystin-1. (2008) (44)
Identification of the first gene locus (SSNS1) for steroid-sensitive nephrotic syndrome on chromosome 2p. (2003) (44)
NPHS2 mutation associated with recurrence of proteinuria after transplantation (2004) (44)
MKS1 regulates ciliary INPP5E levels in Joubert syndrome (2015) (43)
Expression and phenotype analysis of the nephrocystin-1 and nephrocystin-4 homologs in Caenorhabditis elegans. (2005) (42)
Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies (2015) (42)
Interaction of ciliary disease protein retinitis pigmentosa GTPase regulator with nephronophthisis-associated proteins in mammalian retinas (2010) (42)
Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association (2015) (42)
Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease. (2005) (42)
Secreted metalloproteases ADAMTS9 and ADAMTS20 have a non-canonical role in ciliary vesicle growth during ciliogenesis (2019) (40)
cDNA cloning and immunolocalization of a Na(+)-H+ exchanger in LLC-PK1 renal epithelial cells. (1991) (40)
Mutations in WDR4 as a new cause of Galloway–Mowat syndrome (2018) (40)
Mutational analysis of NPHS2 and WT1 in frequently relapsing and steroid-dependent nephrotic syndrome (2007) (40)
Identification of a gene locus for Senior-Løken syndrome in the region of the nephronophthisis type 3 gene. (2002) (40)
Co‐occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy (2010) (40)
A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling. (2017) (39)
Identification of a novel Ran binding protein 2 related gene (RANBP2L1) and detection of a gene cluster on human chromosome 2q11-q12. (1998) (38)
WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease (2015) (37)
Mutations in SLC26A1 Cause Nephrolithiasis. (2016) (37)
De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association (2013) (36)
Appearance of autosomal recessive polycystic kidney disease in magnetic resonance imaging and RARE-MR-urography (2000) (36)
Retinitis pigmentosa and renal failure in a patient with mutations in INVS. (2006) (36)
The Future of Polycystic Kidney Disease Research--As Seen By the 12 Kaplan Awardees. (2015) (35)
GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome. (2018) (35)
Mutation Analysis of NPHS1 in a Worldwide Cohort of Congenital Nephrotic Syndrome Patients (2012) (34)
Advillin acts upstream of phospholipase C ε1 in steroid-resistant nephrotic syndrome (2017) (33)
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly (2019) (33)
mut0 methylmalonic acidemia: Eleven novel mutations of the methylmalonyl CoA mutase including a deletion‐insertion mutation (2000) (33)
A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies (2009) (32)
Lack of large, homozygous deletions of the nephronophthisis 1 region in Joubert syndrome type B (1998) (32)
Loss of Epithelial Membrane Protein 2 Aggravates Podocyte Injury via Upregulation of Caveolin-1. (2016) (32)
Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis. (2019) (32)
Autosomal dominant mutation in the signal peptide of renin in a kindred with anemia, hyperuricemia, and CKD. (2011) (30)
Treatment with 2,4-Dihydroxybenzoic Acid Prevents FSGS Progression and Renal Fibrosis in Podocyte-Specific Coq6 Knockout Mice. (2019) (30)
Familial glomerulopathy with giant fibrillar (fibronectin-positive) deposits: 15-year follow-up in a large kindred. (1996) (30)
Phospholipase C Epsilon (PLCε) Induced TRPC6 Activation: A Common but Redundant Mechanism in Primary Podocytes (2015) (30)
Underlying genetic factors of the VATER/VACTERL association with special emphasis on the “Renal” phenotype (2016) (29)
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype (2015) (29)
ADCK 4 mutations promote steroid-resistant nephrotic syndrome through CoQ 10 biosynthesis disruption (2018) (29)
Identification of BRAF as a new interactor of PLCε1, the protein mutated in nephrotic syndrome type 3 (2008) (29)
Medullary cystic kidney disease type 1 in a large Native-American kindred. (2004) (29)
Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing (2006) (28)
ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms (2018) (28)
Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations (2018) (28)
Refinement of the gene locus for autosomal dominant medullary cystic kidney disease type 1 (MCKD1) and construction of a physical and partial transcriptional map of the region. (2001) (27)
Autosomal dominant medullary cystic kidney disease: evidence of gene locus heterogeneity. (1998) (27)
Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center (2018) (27)
Antenatal Bartter syndrome with sensorineural deafness: refinement of the locus on chromosome 1p31. (2000) (26)
Multisystem Inflammation and Susceptibility to Viral infections in Human ZNFX1 Deficiency. (2021) (26)
Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis (2019) (26)
Physical mapping of the gene for juvenile nephronophthisis (NPH1) by construction of a complete YAC contig of 7 Mb on chromosome 2q13. (1996) (26)
Cloning, sequence, and tissue distribution of a rabbit renal Na+/H+ exchanger transcript. (1991) (25)
Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases (2017) (25)
Identification of a gene for nephronophthisis. (1998) (25)
Multiple urinary tract malformations with likely recessive inheritance in a large Somalian kindred. (2004) (25)
Late occurrence of cysts in autosomal dominant medullary cystic kidney disease. (1997) (25)
Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome. (2011) (24)
Novel Mutations in NPHS 2 Detected in Both Familial and Sporadic Steroid-Resistant Nephrotic Syndrome (2002) (24)
Missense mutations in EYA1 and TCF2 are a rare cause of urinary tract malformations. (2007) (24)
Pseudodominant inheritance of nephronophthisis caused by a homozygous NPHP1 deletion (2011) (24)
Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies (2019) (24)
Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy. (2019) (23)
Mapping a new suggestive gene locus for autosomal dominant nephrolithiasis to chromosome 9q33.2-q34.2 by total genome search for linkage. (2005) (23)
Mutation of Growth Arrest Specific 8 Reveals a Role in Motile Cilia Function and Human Disease (2016) (23)
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. (2017) (23)
Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24. (2010) (23)
ADCK4 Deficiency Destabilizes the Coenzyme Q Complex, Which Is Rescued by 2,4-Dihydroxybenzoic Acid Treatment. (2020) (23)
Construction of a gene map of the nephronophthisis type 1 (NPHP1) region on human chromosome 2q12-q13. (1998) (23)
ANKS 6 is a central component of a nephronophthisis module linking NEK 8 to INVS and NPHP 3 (2013) (22)
Telomeric refinement of the MCKD1 locus on chromosome 1q21. (2004) (21)
Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children (2019) (21)
Refinement of the critical region for MCKD1 by detection of transcontinental haplotype sharing. (2003) (21)
Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction (2019) (21)
The gene for human fibronectin glomerulopathy maps to 1q32, in the region of the regulation of complement activation gene cluster. (1998) (21)
A FANCD2/FANCI-Associated Nuclease 1-Knockout Model Develops Karyomegalic Interstitial Nephritis. (2016) (21)
Acute multi-sgRNA knockdown of KEOPS complex genes reproduces the microcephaly phenotype of the stable knockout zebrafish model (2018) (20)
A deletion distinct from the classical homologous recombination of juvenile nephronophthisis type 1 (NPH1) allows exact molecular definition of deletion breakpoints (2000) (20)
Cyclosporine A for treatment of nephrotic syndromes. (1988) (20)
LODVIEW: a computer program for the graphical evaluation of lod score results in exclusion mapping of human disease genes. (1993) (20)
Clinical characterization and NPHP1 mutations in nephronophthisis and associated ciliopathies: a single center experience. (2012) (20)
SDCCAG8 Interacts with RAB Effector Proteins RABEP2 and ERC1 and Is Required for Hedgehog Signaling (2016) (20)
Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants (2018) (20)
Report and abstracts of the Third International Workshop on Human Chromosome 2 Mapping 1994. Aarhus, Denmark, June 24-26, 1994. (1994) (19)
FAN 1 mutations cause karyomegalic interstitial nephritis , linking chronic kidney failure to defective DNA damage repair (2013) (19)
Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome (2019) (19)
Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome (2019) (19)
ADCK4 deficiency destabilizes the coenzyme Q complex, which is rescued by 2,4-dihydroxybenzoic acid treatment (2019) (19)
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis. (2017) (18)
3D spheroid defects in NPHP knockdown cells are rescued by the somatostatin receptor agonist octreotide. (2012) (18)
Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome. (2019) (18)
Glomerulopathy associated with predominant fibronectin deposits: exclusion of the genes for fibronectin, villin and desmin as causative genes. (1996) (18)
Improved strategy for molecular genetic diagnostics in juvenile nephronophthisis. (2001) (18)
Evidence of further genetic heterogeneity in autosomal dominant medullary cystic kidney disease. (2000) (18)
Refined genetic mapping of a gene for familial juvenile nephronophthisis (NPH1) and physical mapping of linked markers. APN Study Group. (1995) (18)
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis. (2017) (18)
Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT) (2009) (17)
TBC1D8B Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic Syndrome. (2019) (17)
Mutations of the SLIT 2-ROBO 2 pathway genes SLIT 2 and SRGAP 1 Confer Risk for Congenital Anomalies of the Kidney and Urinary Tract (2015) (16)
Osteoclast stimulation factor 1 (Ostf1) KNOCKOUT increases trabecular bone mass in mice (2017) (16)
Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation (2020) (16)
Exclusion of the uteroglobin gene as a candidate for fibronectin glomerulopathy (GFND) (1998) (15)
Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome. (2017) (15)
Identification of BRAF as a new interactor of PLCepsilon1, the protein mutated in nephrotic syndrome type 3. (2008) (15)
Homozygosity Mapping on a Single Patient—Identification of Homozygous Regions of Recent Common Ancestry by Using Population Data (2011) (14)
RARE-MR-Urography — A New Diagnostic Method in Autosomal Recessive Polycystic Kidney Disease (1999) (14)
Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature (2019) (14)
Karyomegalic interstitial nephritis (2013) (14)
Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome (2019) (14)
Molecular biology of renal Na(+)-H+ exchangers. (1991) (14)
Molecular cloning and expression of phospholipase C epsilon 1 in zebrafish. (2009) (14)
Targeted sequencing of 96 renal developmental microRNAs in 1213 individuals from 980 families with congenital anomalies of the kidney and urinary tract. (2016) (14)
PLCE1 regulates the migration, proliferation, and differentiation of podocytes (2020) (14)
A Bartter’s Syndrome Mutation of ROMK1 Exerts Dominant Negative Effects on K+ Conductance (2000) (14)
Cystic kidneys in fetal Walker–Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature (2017) (13)
Probable Opitz trigonocephaly C syndrome with medulloblastoma. (1997) (13)
Genetic renal diseases in children. (1995) (13)
Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT) (2020) (12)
Utility of Genomic Testing after Renal Biopsy (2019) (12)
The nucleoside-diphosphate kinase NME3 associates with nephronophthisis proteins and is required for ciliary function during renal development (2018) (12)
Pediatric kidney disease: tracking onset and improving clinical outcomes. (2014) (12)
DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation. (2020) (11)
Mutational analysis in 119 families with nephronophthisis (2007) (11)
Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic Syndrome (2018) (11)
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations. (2020) (11)
Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype (2018) (11)
Acute bilateral renal vein thrombosis complicating Netherton syndrome (1998) (11)
PRDM15 loss of function links NOTCH and WNT/PCP signaling to patterning defects in holoprosencephaly (2020) (11)
Adequate use of allele frequencies in Hispanics—a problem elucidated in nephrotic syndrome (2010) (11)
HSPA6: A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum (2019) (11)
Molecular cloning of the critical region for glomerulopathy with fibronectin deposits (GFND) and evaluation of candidate genes. (2000) (11)
Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children (2019) (11)
Effects of Diet and Social Housing on Reproductive Success in Adult Zebrafish, Danio rerio. (2018) (11)
A gene locus for steroid-resistant nephrotic syndrome with deafness maps to chromosome 14q24.2. (2003) (11)
Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice (2021) (11)
MRI Spectrum of Brain Involvement in Sphingosine-1-Phosphate Lyase Insufficiency Syndrome (2020) (11)
Eye involvement in children with primary focal segmental glomerulosclerosis (2008) (10)
A small molecule screening to detect potential therapeutic targets in human podocytes. (2017) (10)
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features (2021) (10)
COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans (2019) (10)
Disruption of MAGI2-RapGEF2-Rap1 signaling contributes to podocyte dysfunction in congenital nephrotic syndrome caused by mutations in MAGI2. (2019) (10)
Nephrocystin-1 interacts directly with Ack1 and is expressed in human collecting duct. (2008) (10)
Decade in review—genetics of kidney diseases: Genetic dissection of kidney disorders (2015) (10)
Identification of the human CYS1 gene and candidate gene analysis in Boichis disease (2003) (9)
A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families (2021) (9)
CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations. (2019) (9)
Clinical and histological presentation of 3 siblings with mutations in the NPHP4 gene. (2004) (9)
Homozygous NPHP1 deletions in Egyptian children with nephronophthisis including an infantile onset patient (2010) (9)
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis. (2021) (9)
Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux. (2021) (8)
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy (2013) (8)
Deep learning is widely applicable to phenotyping embryonic development and disease (2021) (8)
Techniques in Molecular Medicine (1998) (8)
Corticosteroid treatment exacerbates nephrotic syndrome in a zebrafish model of magi2a knockout. (2019) (8)
Genetics of Kidney Diseases. (2016) (8)
Immunological Impact of a Gluten-Free Dairy-Free Diet in Children With Kidney Disease: A Feasibility Study (2021) (8)
DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes (2020) (8)
Roscovitine blocks collecting duct cyst growth in Cep164-deficient kidneys. (2019) (8)
Erratum : Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations (The American Journal of Human Genetics (2017) 101(5) (789–802) (S0002929717303877) (10.1016/j.ajhg.2017.09.018)) (2017) (7)
Beyond the tubule: Pathogenic variants in LRP2, encoding the megalin receptor, result in glomerular loss and early progressive chronic kidney disease. (2020) (7)
Recessive NPHS 2 ( Podocin ) Mutations Are Rare in Adult-Onset Idiopathic Focal Segmental Glomerulosclerosis (2006) (7)
Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report (2017) (7)
Use of a myocutaneous flap after resection of a large lymphangioma. (2001) (7)
Evidence for further genetic heterogeneity in nephronophthisis. (2001) (7)
Inhibition of endoplasmic reticulum stress signaling rescues cytotoxicity of human apolipoprotein-L1 risk variants in Drosophila. (2022) (7)
Isolation of putative voltage-gated epithelial K-channel isoforms from rabbit kidney and LLC-PK1 cells. (1992) (7)
Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome. (2021) (7)
Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT. (2021) (6)
Absence of Mutations in the 6Th Exon of FcεRI-β (1996) (6)
Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity (2019) (6)
Erratum: Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis (American Journal of Human Genetics (2017) 100(2) (323–333)(S0002929716305353)(10.1016/j.ajhg.2016.12.011)) (2017) (6)
Genetics of Congenital Anomalies of the Kidneys and Urinary Tract (2016) (6)
Absence of mutations in the 6th exon of Fc epsilon RI-beta. (1996) (6)
Loss of Anks6 leads to YAP deficiency and liver abnormalities. (2020) (6)
Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression (2021) (6)
Exclusion of the candidate genes ACE and Bcl-2 for six families with nephronophthisis not linked to the NPH1 locus. (1999) (6)
Genetic and physical interaction between the NPHP 5 and NPHP 6 gene products (2008) (6)
The utility of a genetic kidney disease clinic employing a broad range of genomic testing platforms: experience of the Irish Kidney Gene Project (2022) (5)
Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy (Journal of Clinical Investigation (2010) 120, 3 (791-802) DOI: 10.1172/JCI40076) (2010) (5)
Novel Nephronophthisis-associated variants reveal functional importance of MAPKBP1 dimerization for centriolar recruitment. (2020) (5)
Nephronophthisis-Associated CEP 164 Regulates Cell Cycle Progression , Apoptosis and Epithelial-to-Mesenchymal Transition (2014) (5)
Diverse phenotypic expression of NPHP4 mutations in four siblings. (2014) (5)
Effect of vanillic acid on COQ 6 mutants identi fi ed in patients with coenzyme Q 10 de fi ciency (2013) (5)
Novel NPR1 polymorphic variants and its exclusion as a candidate gene for medullary cystic kidney disease (ADMCKD) type 1. (2001) (5)
[Hereditary diseases of the kidney]. (1995) (4)
Gene mutation analysis in Iranian children with nephronophthisis: a two-center study. (2015) (4)
sequencing of (2004) (4)
Correction: Corrigendum: The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery (2016) (4)
Erratum: Genetic and physical interaction between the NPHP5 and NPHP6 gene products (Human Molecular Genetics (2008) vol. 17(23) (3655-3662) 10.1093/hmg/ddn260) (2009) (4)
Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract (2019) (4)
Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes (2021) (4)
Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome (2020) (4)
Expression of a Truncated Form of ODAD1 Associated with an Unusually Mild Primary Ciliary Dyskinesia Phenotype (2022) (4)
A Rare Autosomal Dominant Variant in Regulator of Calcineurin Type 1 (RCAN1) Gene Confers Enhanced Calcineurin Activity and May Cause FSGS (2021) (3)
Respiratory-chain deficiency presenting as diffuse mesangial sclerosis with NPHS3 mutation (2011) (3)
Characterization of Mesonephric Development and Regeneration Using 2 Transgenic Zebrafish 3 4 (2010) (3)
Homozygous WNT9B variants in two families with bilateral renal agenesis/hypoplasia/dysplasia (2021) (3)
Renal cystic disease. (1999) (3)
A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux (2018) (3)
Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney disease (2021) (3)
Limbal BCAM expression identifies a proliferative progenitor population capable of holoclone formation and corneal differentiation (2022) (3)
Purification of Nucleic Acids From Eukaryotic Cells (1999) (3)
Exome resequencing identifies novel NPHP genes, implicating DNA damage response signaling in the pathogenesis of ciliopathies (2012) (3)
[Active chronic hepatitis and Rendu-Osler disease with multiple localizations]. (1969) (3)
Proteomic analysis identifies ZMYM2 as endogenous binding partner of TBX18 protein in 293 and A549 cells. (2021) (3)
Familial fibrillary glomerulopathies: what is the role of fibronectin? (1998) (2)
Intrafamilial Variability and Clinical Heterogeneity in Two Siblings with NPHP4 loss of Function Mutations (2015) (2)
Candidate gene analysis of KIAA0678 encoding a DnaJ-like protein for adolescent nephronophthisis and Senior-Løken syndrome type 3 (2002) (2)
Personalized Comments on Challenges and Opportunities in Kidney Disease Therapeutics: The Glom-NExT Symposium. (2016) (2)
ETV4 Mutation in a Patient with Congenital Anomalies of the Kidney and Urinary Tract (2016) (2)
Structure and Function of the Human Genome (1999) (2)
Corrigendum: TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum (2011) (2)
Explorer SDCCAG 8 Interacts with RAB Effector Proteins RABEP 2 and ERC 1 and Is Required for Hedgehog Signaling (2016) (2)
Whole exome sequencing identifies FOXL2, FOXA2 and FOXA3 as candidate genes for monogenic congenital anomalies of the kidneys and urinary tract. (2021) (2)
Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis (2019) (2)
Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract American Journal of Medical Genetics Part C (2022) (2)
Erratum: The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes (2016) (2)
Chapter 25 – Nephronophthisis (2009) (1)
Performance evaluation of a particle-enhanced turbidimetric cystatin C assay using the Abbott Aeroset analyser and assessment of cystatin C-based equations for estimating glomerular filtration rate in chronic kidney disease (2010) (1)
Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches (2020) (1)
Mutations in the evolutionarily highly conserved KEOPS complex genes cause nephrotic syndrome with microcephaly (2018) (1)
X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems (2022) (1)
Characterization Of A Novel TRPC6 Mutant Identified In FSGS Patients (2009) (1)
Polymerase Chain Reaction (1999) (1)
Molecular Genetics and Clinical Phenotype in Heritable Disorders of Tubular Na+ Transport (1998) (1)
Renal Medicine 1 Genetic kidney diseases (2010) (1)
Sequencing the CaSR locus in Pakistani stone formers reveals a novel loss-of-function variant atypically associated with nephrolithiasis (2021) (1)
Abstracts of the 51st Annual ESPN Meeting, Antalya, October 2018 (2018) (1)
Renal Medicine 1 Genetic kidney diseases (2010) (1)
Proceedings of the 24th Paediatric Rheumatology European Society Congress: Part one (2017) (1)
Confirmation of the JBTS3 locus and identification of a new ahi1 gene mutation in Joubert syndrome (JS) type 3 with renal involvement – evidence for other JS-causing genes in this region? (2005) (1)
Positional Cloning and Linkage Analysis (1999) (1)
Retinal Degeneration in the Rd16 Mouse Is Associated With a Deletion in a Novel Centrosomal Protein CEP290/NPHP6 That Interacts With Retinitis Pigmentosa GTPase Regulator (RPGR) (2006) (1)
A truncating NRIP1 variant in an Arabic family with congenital anomalies of the kidneys and urinary tract (2021) (1)
RPGR Interacts With a Novel Ciliary IQ Domain Protein Nephrocystin 5, Mutated in Senior–Loken Syndrome (Nephronophthisis With Retinitis Pigmentosa) (2005) (1)
Association of body composition with odds of breast cancer by molecular subtype: analysis of the Mechanisms for Established and Novel Risk Factors for Breast Cancer in Nigerian Women (MEND) study (2021) (1)
Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract (2019) (0)
Single-Gene Defects Elucidate Mechanisms of CKD (2015) (0)
Nephrology Dialysis Transplantation Molecular Detective Stories Identification of a gene for nephronophthisis (1998) (0)
Contents Index Vol. 116, 2010 (2010) (0)
Secreted metalloproteases ADAMTS9 and ADAMTS20 have a non-canonical role in ciliary vesicle growth during ciliogenesis (2019) (0)
A girl with isolated diffuse mesangial sclerosis and WT1 mutation (2014) (0)
Studying a rare disease: two novel cases of NPHS3 caused by mutations in PLCE1 (2009) (0)
Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models (2022) (0)
Mele-NEJM-2011-appendix (2012) (0)
(2019). Disruption of MAGI2-RapGEF2-Rap1 signaling contributes to podocyte dysfunction in congenital nephrotic syndrome caused by mutations in MAGI2. Kidney (3), 642-655. (2019) (0)
Nephronophthisis : A Frequent Genetic Cause of Kidney Failure in Children (2007) (0)
Phospholipase Cε(PLCε)‐mediated activation of classical transient receptor potential 6 (TRPC6) increases barrier function of glomerular podocytes (2009) (0)
G7 – Hereditäre Nephropathien (2007) (0)
PKD2 founder mutation is the most common mutation of polycystic kidney disease in Taiwan (2022) (0)
STRUCTURE AND FUNCTION OF THE CILIUM– CENTROSOME COMPLEX (2013) (0)
Mutations in transcription factor CP2-like 1 may cause a novel syndrome with distal renal tubulopathy in humans. (2020) (0)
Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants (2018) (0)
Cystin gene mutations cause autosomal recessive polycystic kidney disease associated with altered Myc expression (2020) (0)
Renal biopsy findings in a patient with loss-of-function of ITGA3 (2012) (0)
Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment (2018) (0)
Activation of 2‐oxoglutarate receptor 1 (OXGR1) by α‐ketoglutarate (αKG) does not detectably stimulate Pendrin‐mediated anion exchange in Xenopus oocytes (2022) (0)
Gene for Familial Juvenile Nephronophthisis: Refining the Map and Defining Flanking Markers (2006) (0)
OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis. (2022) (0)
Nephronophthisis and Medullary Cystic Kidney Disease (2009) (0)
CRISPR/Cas9 targeting Ttc30a mimics ciliary chondrodysplasia with polycystic kidney disease (2020) (0)
[Exact description of non-glomerular and glomerular erythrocyte forms in pediatric hematuria]. (1988) (0)
POS-430 CRISPR/CAS9 TARGETING TTTC30A MIMICS CILIARY CHONDRODYSPLASIA WITH POLYCYSTIC KIDNEY DISEASE (2021) (0)
PLCε‐dependent activation of TRPC6 channels in kidney podocytes, murine embryonic fibroblasts (MEFs) and human embryonic kidney cells (HEK 293): A general mechanism? (2011) (0)
Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract (2022) (0)
PLCE1 regulates the migration, proliferation, and differentiation of podocytes (2020) (0)
Literature abstracts (2004) (0)
A Novel form of Familial Vasopressin Deficient Diabetes Insipidus Transmitted in an X-linked Recessive manner. (2022) (0)
A homozygous truncating ETV4 variant in a Nigerian family with congenital anomalies of the kidney and urinary tract (2023) (0)
Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs (2022) (0)
Obesity in pediatric patients with Bardet - Biedl Syndrome - diagnostic hint and therapeutic challenge (2023) (0)
[Exact description of non-glomerular and glomerular erythrocyte forms in pediatric hematuria]. (1988) (0)
Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome (2023) (0)
Steroid-resistant nephrotic syndrome associated MYO1E mutations have differential effects on myosin 1e localization, dynamics, and activity (2021) (0)
[Hemolytic-uremic syndrome]. (1994) (0)
The copy number variation landscape of congenital anomalies of the kidney and urinary tract (2018) (0)
Phospholipase C{varepsilon}(PLC{varepsilon})-mediated activation of classical transient receptor potential 6 (TRPC6) increases barrier function of glomerular podocytes (2009) (0)
Mutations of IFT81, encoding an IFT-B core protein, as a rare cause of a ciliopathy (2015) (0)
Genetics for beginners (2001) (0)
WCN23-0159 ENPP6 IS A POTENTIAL NOVEL CANDIDATE GENE FOR MONOGENIC CONGENITAL ANOMALIES OF THE KIDNEYS AND URINARY TRACT (2023) (0)
Cloning Strategies: An Overview (1999) (0)
Exome resequencing reveals ADCK4 mutations as novel causes of steroid-resistant nephrotic syndrome (2013) (0)
GENETIC PREVALENCE OF PRIMARY HYPEROXALURIA TYPE 1 (2023) (0)
Clinical and Genetic Features of Familial Nephrotic Syndromes (1999) (0)
University of Groningen Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome Vargas-Poussou, (2007) (0)
Osteoclast stimulation factor 1 (Ostf1) KNOCKOUT increases trabecular bone mass in mice (2017) (0)
D-SPHEROID DEFECTS IN NPHP KNOCKDOWN CELLS ARE RESCUED BY THE 2 SOMATOSTATIN AGONIST OCTREOTIDE (2012) (0)
Identification of a new gene for Autosomal Recessive Retinitis Pigmentosa (arRP) (2012) (0)
Mutations of the SLIT2–ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract (2015) (0)
Nephronophthisis and Related Ciliopathies (2021) (0)
Mutational analysis in nephronophthisis type 4. (2003) (0)
Genetic diseases and molecular genetics - 2 (2011) (0)
P009: Genetics prevalence of cystine stone: A 6 year longitudinal comparison (2023) (0)
Supplementary Material for: Mutation Analysis of NPHS1 in a Worldwide Cohort of Congenital Nephrotic Syndrome Patients (2017) (0)
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly (2019) (0)
PKD2 founder mutation is the most common mutation of polycystic kidney disease in Taiwan (2022) (0)
Whole exome sequencing identifies monogenic forms of nephritis in a previously unsolved cohort of children with steroid-resistant nephrotic syndrome and hematuria (2021) (0)
Disease modeling of ADAMTS9-related nephropathy using kidney organoids reveals its roles in tubular cells and podocytes (2023) (0)
COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans (2019) (0)
Nephronophthisis and Medullary Cystic Kidney Disease in Children (2015) (0)
NEP-SYNDROME: A NEW GENETIC CONDITION WITH NEPHROTIC SYNDROME, EPIDERMOLYSIS BULLOSA AND PULMONARY DISEASE BASED ON INTEGRIN alpha 3 MUTATION (2012) (0)
Molecular cloning of voltage gated epithelial potassium channel isoforms from rabbit kidney and llc pk 1 cells (1991) (0)
Genetic stratification reveals COL4A variants and spontaneous remission in Egyptian children with proteinuria in the first two years of life. (2023) (0)
Mutations in NRIP 1 cause dominant urinary tract malformations via dysregulation of retinoic acid signaling (2017) (0)
The Medullary Cystic Kidney Disease: Nephronophthisis Complex (2006) (0)
Explorer FAN 1 mutations cause karyomegalic interstitial nephritis , linking chronic kidney failure to defective DNA damage repair (2017) (0)
Implication of FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT) (2023) (0)
Association of lipid profile biomarkers with breast cancer by molecular subtype: analysis of the MEND study (2022) (0)
A role for PLC epsilon in the regulation of TRPC6 mediated cation influx in glomerular podocytes (2007) (0)
Rap1 signaling contributes to podocyte dysfunction in congenital nephrotic syndrome caused by mutations in MAGI2. Kidney International, 96(3), 642- (2019) (0)
FO027DIAGNOSTIC UTILITY OF NEXT GENERATION SEQUENCING TECHNIQUES IN PATIENTS WITH FAMILIAL KIDNEY DISEASE WHO HAVE UNDERGONE PERCUTANEOUS NATIVE KIDNEY BIOPSY (2019) (0)
Syddansk Universitet SDCCAG 8 interacts with rab effector proteins rabep 2 and erc 1 and is required for hedgehog signaling (2016) (0)
Molecular Biology/Cell Biology/Human Genetics/Anatomy/ Embryology (2008) (0)
Corrigendum: Immunological Impact of a Gluten-Free Dairy-Free Diet in Children With Kidney Disease: A Feasibility Study (2021) (0)
SP004CHARACTERIZATION OF A NOVEL MAPKBP1 MUTATION CAUSING LATE-ONSET CILIA-INDEPENDENT NEPHRONOPHTHISIS (2017) (0)
Sequencing the CaSR locus in Pakistani stone formers reveals a novel loss-of-function variant atypically associated with nephrolithiasis (2021) (0)
Secondary Inherited NDI: A Diagnostic Pitfall (2010) (0)
The Case. Unusual cause of chronic renal failure with elevated liver enzymes. (2012) (0)

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