455 results on '"Frébourg, Thierry"'
Search Results
2. Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study
3. Hypersociability associated with developmental delay, macrocephaly and facial dysmorphism points to CHD3 mutations
4. Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)
5. Patients with 10q22.3q23.1 recurrent deletion syndrome are at risk for juvenile polyposis
6. When a maternal heterozygous mutation of the CYP24A1 gene leads to infantile hypercalcemia through a maternal uniparental disomy of chromosome 20
7. Impaired SorLA maturation and trafficking as a new mechanism for SORL1 missense variants in Alzheimer disease
8. Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease
9. Contribution of genotoxic anticancer treatments to the development of multiple primary tumours in the context of germline TP53 mutations
10. Diversity of genetic events associated with MLH1 promoter methylation in Lynch syndrome families with heritable constitutional epimutation
11. Identification of Somatic Mutations in Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type by Massive Parallel Sequencing
12. Supplementary Figure 1 from Correlation between Density of CD8+ T-cell Infiltrate in Microsatellite Unstable Colorectal Cancers and Frameshift Mutations: A Rationale for Personalized Immunotherapy
13. Supplementary Figure 2 from Correlation between Density of CD8+ T-cell Infiltrate in Microsatellite Unstable Colorectal Cancers and Frameshift Mutations: A Rationale for Personalized Immunotherapy
14. Data from Correlation between Density of CD8+ T-cell Infiltrate in Microsatellite Unstable Colorectal Cancers and Frameshift Mutations: A Rationale for Personalized Immunotherapy
15. Supplementary Figure 3 from Correlation between Density of CD8+ T-cell Infiltrate in Microsatellite Unstable Colorectal Cancers and Frameshift Mutations: A Rationale for Personalized Immunotherapy
16. Supplementary Figure Legend from Correlation between Density of CD8+ T-cell Infiltrate in Microsatellite Unstable Colorectal Cancers and Frameshift Mutations: A Rationale for Personalized Immunotherapy
17. Supplementary Table 1 from Correlation between Density of CD8+ T-cell Infiltrate in Microsatellite Unstable Colorectal Cancers and Frameshift Mutations: A Rationale for Personalized Immunotherapy
18. Supplementary Table 2 from Correlation between Density of CD8+ T-cell Infiltrate in Microsatellite Unstable Colorectal Cancers and Frameshift Mutations: A Rationale for Personalized Immunotherapy
19. Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers
20. Clinical value of chip-based digital-PCR platform for the detection of circulating DNA in metastatic colorectal cancer
21. Neuron-to-Neuron Transfer of FUS in Drosophila Primary Neuronal Culture Is Enhanced by ALS-Associated Mutations
22. Amino-terminal p53 mutations lead to expression of apoptosis proficient p47 and prognosticate better survival, but predispose to tumorigenesis
23. SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing
24. Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation
25. SPiP:Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing
26. Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium
27. Generation of 17q21.31 duplication iPSC-derived neurons as a model for primary tauopathies
28. Blood functional assay for rapid clinical interpretation of germline TP53 variants
29. Chapitre 23 - Oncogénétique
30. Metastatic colorectal cancer KRAS genotyping in routine practice: results and pitfalls
31. Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls
32. PDGFB Partial Deletion: a New, Rare Mechanism Causing Brain Calcification with Leukoencephalopathy
33. The MDM2 285G–309G haplotype is associated with an earlier age of tumour onset in patients with Li-Fraumeni syndrome
34. Clinical and pathologic features of Aicardi–Goutières syndrome due to an IFIH1 mutation: A pediatric case report
35. Pathologie moléculaire tumorale : à propos du génotypage de KRAS dans les carcinomes colorectaux
36. Tumor-infiltrating lymphocytes in colorectal cancers with microsatellite instability are correlated with the number and spectrum of frameshift mutations
37. Germ-Line Mutations of the p53 Tumor Suppressor Gene in Patients With High Risk for Cancer Inactivate the p53 Protein
38. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation
39. Impaired SorLA maturation and trafficking as a new mechanism for SORL1 missense variants in Alzheimer disease
40. High Prevalence of Somatic Oncogenic Driver Alterations in Patients With NSCLC and Li-Fraumeni Syndrome
41. Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B
42. Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes
43. Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays, and protein analyses: Benefits for the accurate diagnosis of congenital hyperinsulinism
44. Inactivation of the RRB1-Pescadillo pathway involved in ribosome biogenesis induces chromosomal instability
45. Screening for TP53 rearrangements in families with the Li–Fraumeni syndrome reveals a complete deletion of the TP53 gene
46. Functional Analysis of a Large set of BRCA2 exon 7 Variants Highlights the Predictive Value of Hexamer Scores in Detecting Alterations of Exonic Splicing Regulatory Elements
47. Overexpression of B-type cyclins alters chromosomal segregation
48. Use of Splicing Reporter Minigene Assay to Evaluate the Effect on Splicing of Unclassified Genetic Variants
49. Syndrome de Li-Fraumeni
50. Multiple sequence variants of BRCA2 exon 7 alter splicing regulation
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