324 results on '"Deltas, C."'
Search Results
2. PKD2, a Gene for Polycystic Kidney Disease That Encodes an Integral Membrane Protein
3. Genomic Classifiers in Personalized Prostate Cancer Radiation Therapy Approaches: A Systematic Review and Future Perspectives Based on International Consensus.
4. Digenic inheritance and genetic modifiers
5. Frequent COL4 mutations in familial microhematuria accompanied by later‐onset Alport nephropathy due to focal segmental glomerulosclerosis
6. The 2019 and 2021 International Workshops on Alport Syndrome.
7. Germline MBD4 deficiency causes a multi-tumor predisposition syndrome
8. Germline MBD4 deficiency causes a multi-tumor predisposition syndrome
9. Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome
10. POS-435 NEXT GENERATION SEQUENCING IDENTIFIES CANDIDATE GENETIC MODIFIERS POTENTIALLY EXACERBATING KIDNEY DISEASE IN COL4A3/A4 HETEROZYGOUS PATIENTS
11. Germline loss-of-function variants in the base-excision repair gene MBD4 cause a Mendelian recessive syndrome of adenomatous colorectal polyposis and acute myeloid leukaemia
12. RET proto-oncogene mutations are restricted to codon 618 in Cypriot families with multiple endocrine neoplasia 2
13. 25P Evaluation of PD-L1 and Ki67 markers in CTCs of NSCLC patients treated with pembrolizumab
14. Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1
15. Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing
16. miRNA implication in the most common subtypes of renal cell carcinoma and urothelial carcinoma of the upper urinary tract: SW01.S2–89
17. Autosomal dominant polycystic kidney disease: molecular genetics and molecular pathogenesis
18. Genotype–phenotype correlation in X-linked Alport syndrome patients carrying missense mutations in the collagenous domain of COL4A5
19. Meta-analysis of clear cell renal cell carcinoma gene expression reveals the deregulated genes and their associated networks: P24-13
20. X-linked Alport syndrome in Hellenic families: Phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5
21. Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1
22. Screening for COL4A3/COL4A4 mutations in 100 familial and sporadic cases of microscopic hematuria, where mutation type might explain the wide phenotypic spectrum: YSF-84
23. New amino acid polymorphism, Ala/Val4058, in exon 45 of the polycystic kidney disease 1 gene: evolution of alleles
24. P033 - Genomic classifiers in personalized prostate cancer radiotherapy approaches – a systematic review and future perspectives based on international consensus
25. Expert consensus guidelines for the genetic diagnosis of Alport syndrome
26. Detection of a novel nonsense mutation and an intragenic polymorphism in the PKD1 gene of a Cypriot family with autosomal dominant polycystic kidney disease
27. Cystic fibrosis mutational spectrum and genotypic/phenotypic features in Greek-Cypriots, with emphasis on dehydration as presenting symptom
28. Genetic heterogeneity in adult dominant polycystic kidney disease in Cypriot families
29. Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene
30. A base substitution at IVS-19 3′-end splice junction causes exon 20 skipping in proα2(I) collagen mRNA and produces mild osteogenesis imperfecta
31. Novel cystic fibrosis mutation associated with mild disease in Cypriot patients
32. Non-isotopic RNase cleavage assay for mutation detection in MEFV, the gene responsible for familial Mediterranean fever, in a cohort of Greek patients
33. Outcome of kidney transplantation in autosomal dominant medullary cystic kidney disease type 1
34. Familial Mediterranean fever associated pyrin mutations in Greece
35. Autosomal-dominant medullary cystic kidney disease type 1: Clinical and molecular findings in six large Cypriot families
36. A family with the branchio-oto-renal syndrome: clinical and genetic correlations
37. Presymptomatic molecular diagnosis of autosomal dominant polycystic kidney disease using PKD1- and PKD2-linked markers in Cypriot families
38. Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis
39. Correction: A european spectrum of pharmacogenomic biomarkers: Implications for clinical pharmacogenomics (PLoS ONE (2016) 11:9 (e0162866) DOI: 10.1371/journal.pone.0162866)
40. A functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general population
41. Correction: A european spectrum of pharmacogenomic biomarkers: Implications for clinical pharmacogenomics (PLoS ONE (2016) 11:9 (e0162866) DOI: 10.1371/journal.pone.0162866)
42. Advances and unmet needs in genetic, basic and clinical science in Alport syndrome::report from the 2015 International Workshop on Alport Syndrome
43. FrequentCOL4mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis
44. A European spectrum of pharmacogenomic biomarkers: Implications for clinical pharmacogenomics
45. A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics
46. DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome
47. New miRNA profiles accurately distinguish renal cell carcinomas and upper tract urothelial carcinomas from the normal kidney
48. Neuroprotective effects of EPA and DHA fatty acids in the DBA/2J hereditary glaucoma mouse model
49. Founder mutations in the ATP6V1B1 geneexplain most cypriot cases of distal renal tubular acidosis: First prenatal diagnosis
50. Genetic variation of DKK3 may modify renal disease severity in ADPKD
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