40 results on '"Arrondel, Christelle"'
Search Results
2. Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis
3. Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a renal-hepatic-pancreatic dysplasia
4. P135: X-linked Alport syndrome: From transcriptomic diagnosis to preclinical assessment of splice-switching oligonucleotide therapy using patient-derived cells and kidney organoids*
5. Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome
6. Overcoming the challenges associated with identification of deep intronic variants by whole genome sequencing
7. Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency
8. Targeted next‐generation sequencing in a large series of fetuses with severe renal diseases
9. Fetal renin-angiotensin-system blockade syndrome: renal lesions
10. Spectrum of mutations in the renin–angiotensin system genes in autosomal recessive renal tubular dysgenesis
11. INF2 Mutations in Charcot–Marie–Tooth Disease with Glomerulopathy
12. A murine model of Denys–Drash syndrome reveals novel transcriptional targets of WT1 in podocytes
13. A large tandem duplication within the COL4A5 gene is responsible for the high prevalence of Alport syndrome in French Polynesia
14. Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome
15. COL4A3/COL4A4 mutations: From familial hematuria to autosomal-dominant or recessive Alport syndrome
16. Mutations in the COL4A4 and COL4A3 Genes Cause Familial Benign Hematuria
17. Alport syndrome associated with diffuse leiomyomatosis: COL4A5-COL4A6 deletion associated with a mild form of Alport nephropathy
18. Expression of the Nonmuscle Myosin Heavy Chain IIA in the Human Kidney and Screening for MYH9 Mutations in Epstein and Fechtner Syndromes
19. Structure of the Human Type IV Collagen Gene COL4A3 and Mutations in Autosomal Alport Syndrome
20. A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies
21. Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies
22. C-terminal oligomerization of podocin mediates interallelic interactions
23. Endoplasmic reticulum–retained podocin mutants are massively degraded by the proteasome
24. Podocin Oligomerization Revealed by FRET Analysis: Sites of Interallelic Interactions
25. Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice
26. MP031THE MUTATION-DEPENDENT PATHOGENICITY OF THE NPHS2 R229Q VARIANT
27. Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid-Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome
28. A Homozygous Missense Mutation in the Ciliary Gene TTC21B Causes Familial FSGS
29. Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome
30. INF2 Mutations in Charcot–Marie–Tooth Disease with Glomerulopathy
31. Discovery of microvascular miRNAs using public gene expression data : miR-145 is expressed in pericytes and is a regulator of Fli1
32. Molecular fingerprinting of the podocyte reveals novel gene and protein regulatory networks
33. Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis
34. INF2Mutations in Charcot–Marie–Tooth Disease with Glomerulopathy
35. A murine model of Denys–Drash syndrome reveals novel transcriptional targets of WT1 in podocytes
36. Discovery of microvascular miRNAs using public gene expression data: miR-145 is expressed in pericytes and is a regulator of Fli1
37. Mutations in theCOL4A4 and COL4A3 Genes Cause Familial Benign Hematuria
38. Bi-allelic pathogenic variations in DNAJB11cause Ivemark II syndrome, a renal-hepatic-pancreatic dysplasia
39. Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome.
40. A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS.
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