285 results on '"Gubler, Marie-Claire"'
Search Results
2. Interaction between galectin-3 and cystinosin uncovers a pathogenic role of inflammation in kidney involvement of cystinosis.
3. Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a renal-hepatic-pancreatic dysplasia
4. Renal tubular dysgenesis and microcolon, a novel association. Report of three cases
5. Dysgénésie tubulaire rénale et mutations des gènes du système rénine angiotensine
6. Cilia‐localized LKB1 regulates chemokine signaling, macrophage recruitment, and tissue homeostasis in the kidney
7. The renal inflammatory network of nephronophthisis
8. Urinary monocyte chemoattractant protein-1 and hepcidin and early diabetic nephropathy lesions in type 1 diabetes mellitus
9. Absence of cell surface expression of human ACE leads to perinatal death
10. Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure
11. renal inflammatory network of nephronophthisis.
12. Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome
13. The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome
14. Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome
15. Two splice variants of the Wilms' tumor 1 gene have distinct functions during sex determination and nephron formation
16. Mutations in INF2 Are a Major Cause of Autosomal Dominant Focal Segmental Glomerulosclerosis
17. Developmental Renal Glomerular Defects at the Origin of Glomerulocystic Disease
18. Signaling pathways predisposing to chronic kidney disease progression
19. Accumulation of Globotriaosylceramide in Podocytes in Fabry Nephropathy Is Associated with Progressive Podocyte Loss
20. BBS10 mutations are common in ‘Meckel’-type cystic kidneys
21. Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome
22. Recurrence of nephrotic syndrome after transplantation in a mixed population of children and adults: course of glomerular lesions and value of the Columbia classification of histological variants of focal and segmental glomerulosclerosis (FSGS)
23. Renal phenotype of the cystinosis mouse model is dependent upon genetic background
24. Familial juvenile nephronophthisis
25. Stem cell therapy for Alport syndrome: the hope beyond the hype*
26. Maternal Environment Interacts with Modifier Genes to Influence Progression of Nephrotic Syndrome
27. Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome
28. In vivo expression of podocyte slit diaphragm-associated proteins in nephrotic patients with NPHS2 mutation
29. A large tandem duplication within the COL4A5 gene is responsible for the high prevalence of Alport syndrome in French Polynesia
30. Alport syndrome: a genetic study of 31 families
31. FETAL HYPERECHOIC KIDNEYS: CAUSES AND LONG-TERM OUTCOME IN 43 CASES
32. Membranoproliferative glomerulonephritis type II and Niemann-Pick disease type C
33. Mutational spectrum in the MEFV and TNFRSF1A genes in patients suffering from AA amyloidosis and recurrent inflammatory attacks
34. Alport syndrome associated with diffuse leiomyomatosis: COL4A5-COL4A6 deletion associated with a mild form of Alport nephropathy
35. PAX2 mutations in oligomeganephronia
36. WT1 splice-site mutations are rarely associated with primary steroid-resistant focal and segmental glomerulosclerosis
37. A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies
38. Targets of alloantibodies in Alport anti-glomerular basement membrane disease after renal transplantation
39. Development of human fetal kidney in obstructive uropathy: Correlations with ultrasonography and urine biochemistry
40. Inherited renal tubular dysgenesis: the first patients surviving the neonatal period
41. Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation
42. Deletions in the COL4A5 Collagen Gene in X-linked Alport Syndrome: Characterization of the Pathological Transcripts in Nonrenal Cells and Correlation with Disease Expression
43. Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies
44. Cilia‐localized LKB 1 regulates chemokine signaling, macrophage recruitment, and tissue homeostasis in the kidney
45. WT1 and PAX-2 Podocyte Expression in Denys-Drash Syndrome and Isolated Diffuse Mesangial Sclerosis
46. Stem cell therapy for Alport syndrome: the hope beyond the hype
47. Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia
48. Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation
49. Cystic gene dosage influences kidney lesions after nephron reduction
50. Cystic gene dosage influences kidney lesions after nephron reduction
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.