111 results on '"Hildebrandt, Friedhelm"'
Search Results
2. Pathogenic PHIP Variants are Variably Associated With CAKUT
3. Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease
4. Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)
5. The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies
6. Limbal BCAM expression identifies a proliferative progenitor population capable of holoclone formation and corneal differentiation
7. Inhibition of endoplasmic reticulum stress signaling rescues cytotoxicity of human apolipoprotein-L1 risk variants in Drosophila
8. Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT
9. Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency
10. Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches
11. Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome
12. DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation
13. Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT)
14. Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations
15. Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis
16. Advanced CKD of Uncertain Etiology Among Children in Guatemala: Genetic and Clinical Characteristics
17. Disruption of MAGI2-RapGEF2-Rap1 signaling contributes to podocyte dysfunction in congenital nephrotic syndrome caused by mutations in MAGI2
18. Paralog Studies Augment Gene Discovery: DDX and DHX Genes
19. Corticosteroid treatment exacerbates nephrotic syndrome in a zebrafish model of magi2a knockout
20. Monogenic causes of chronic kidney disease in adults
21. Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy
22. The nucleoside-diphosphate kinase NME3 associates with nephronophthisis proteins and is required for ciliary function during renal development
23. A Multi-layered Quantitative In Vivo Expression Atlas of the Podocyte Unravels Kidney Disease Candidate Genes
24. Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis
25. Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations
26. 20 - Inherited Causes of Nephrotic Syndrome
27. Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity
28. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface
29. Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development
30. DCDC2 Mutations Cause a Renal-Hepatic Ciliopathy by Disrupting Wnt Signaling
31. SDCCAG8 Regulates Pericentriolar Material Recruitment and Neuronal Migration in the Developing Cortex
32. OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis
33. GENETIC PREVALENCE OF PRIMARY HYPEROXALURIA TYPE 1
34. Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract
35. Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association
36. P009: Genetics prevalence of cystine stone: A 6 year longitudinal comparison
37. Chapter 40 - Nephronophthisis and Medullary Cystic Kidney Disease
38. Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies
39. Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia
40. Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling
41. Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis
42. 1 - Congenital Anomalies of the Kidney and Urinary Tract
43. Genotype–phenotype correlation in 440 patients with NPHP-related ciliopathies
44. Autosomal Dominant Mutation in the Signal Peptide of Renin in a Kindred With Anemia, Hyperuricemia, and CKD
45. Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways
46. Contributors
47. De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis
48. CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290
49. Jouberin localizes to collecting ducts and interacts with nephrocystin-1
50. Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.