237 results on '"Frébourg, T."'
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2. Bone sarcomas: ESMO–EURACAN–GENTURIS–ERN PaedCan Clinical Practice Guideline for diagnosis, treatment and follow-up
3. Soft tissue and visceral sarcomas: ESMO–EURACAN–GENTURIS Clinical Practice Guidelines for diagnosis, treatment and follow-up☆
4. LMO2-Associated Clonal T Cell Proliferation in Two Patients after Gene Therapy for SCID-X1
5. Unusual Phenotypic Alteration of β Amyloid Precursor Protein (β APP) Maturation by a New Val-715 → Met β APP-770 Mutation Responsible for Probable Early-Onset Alzheimer's Disease
6. A new genotoxicity assay based on p53 target gene induction
7. Recommandations pour le diagnostic de prédisposition génétique au mélanome cutané et pour la prise en charge des personnes à risque
8. Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort
9. A Simple p53 Functional Assay for Screening Cell Lines, Blood, and Tumors
10. Le laboratoire de Génétique Somatique des Tumeurs du CHU de Rouen
11. Les techniques FISH/CISH : applications en histopathologie
12. Hyperprolinemia is a risk factor for schizoaffective disorder
13. Molecular Profiling of Bladder Tumors Based on the Detection of FGFR3 and TP53 Mutations
14. MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations
15. Le syndrome HNPCC (hereditary non polyposis colon cancer) : identification et prise en charge
16. The three nucleotide deletion within the 3′untranslated region of MLH1 resulting in gene expression reduction is not a causal alteration in Lynch syndrome
17. Molecular basis of the Li–Fraumeni syndrome: an update from the French LFS families
18. Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene
19. A cryopyrin-associated periodic syndrome with joint destruction
20. The contribution of germline rearrangements to the spectrum of BRCA2 mutations
21. Functional analysis of chemically-induced mutations at the flounder TP53 locus, the FACIM assay
22. Danon’s disease as a cause of hypertrophic cardiomyopathy: a systematic survey
23. Early onset hereditary hemochromatosis resulting from a novel TFR2 gene nonsense mutation (R105X) in two siblings of north French descent
24. Loss of MDM2 expression in human head and neck squamous cell carcinomas and clinical significance
25. 1937P ERN GENTURIS guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes
26. 1007P cfDNA and ctDNA variations are predictive of disease progression to conventional transarterial chemoembolization (cTACE) in patients with hepatocellular carcinoma (HCC)
27. C5-2 Une nouvelle forme de démence fronto-temporale
28. Prognostic relevance of KRAS genotype and the prevalent C.35 G > a mutation in metastatic colorectal cancer (MCRC) patients fitting for intensive FIr-B/FOx triplet chemotherapy plus bevacizumab
29. HNPCC syndrome (Hereditary Non Polyposis Colon Cancer): identification and management
30. Variation phénotypique intra- et interfamiliale dans le syndrome de Birt-Hogg-Dubé : conséquences sur la prise en charge
31. SFCE CO-09 - Syndrome CMMR-D : description clinique dans une série française
32. Identification of a novel mutation in the autoimmune regulator (AIRE-1) gene in a French family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
33. 70P - Diagnostic performance of liquid biopsy for pancreatic solid lesion as alternative to endoscopic ultrasound-guided fine needle aspiration (EUS-FNA)
34. 71P - Prospective analysis of CEA, CA19.9, circulating DNA (cDNA) and circulating tumor cells (CTC) in patients (pts) treated for a metastatic colorectal cancer (mCRC)_Results of COCA-COLON study
35. Évaluation de l’apport du séquençage haut débit à l’identification des altérations moléculaires d’intérêt théranostique dans les tumeurs
36. Impact pronostique de la détection simultanée d’altérations moléculaires quantitatives par QMPSF dans les cancers du côlon stade II et III
37. TP53 mutations in irinotecan-refractory KRAS wt-BRAF wt metastatic colorectal cancer patients treated with cetuximab-based chemotherapy.
38. Hepatocarcinoma-specific mutant p53-249ser induces mitotic activity but has no effect on transforming growth factor beta 1-mediated apoptosis
39. Pilot program of fast-track germline genetic analyses as part of integrated breast, ovarian, or gastrointestinal personalized cancer care program.
40. CO.21 Intérêt de la recherche des mutations de TP53 chez les patients sans mutation de KRAS traités par cetuximab plus chimiothérapie pour un cancer colorectal métastatique
41. CO.20 Impact clinique des polymorphismes des récepteurs FcγRIIa/FcγRIIIa et des mutations KRAS dans les cancers colorectaux métastatiques traités par cetuximab et irinotecan
42. Phénotype associé à une duplication du gène APP dans 6 familles françaises
43. Marqueurs prédictifs de la réponse clinique au cetuximab (erbitux®) chez 58 patients traités pour cancer colo-rectal métastatique
44. Gastrectomie totale prophylactique dans le cadre du cancer gastrique diffus héréditaire
45. Identification et prise en charge du syndrome HNPCC (hereditary non polyposis colon cancer). Prédisposition héréditaire aux cancers du côlon, du rectum et de l'utérus
46. P1-4 Maladie d’alzheimer à début précoce autosomique dominante : mise au point
47. Hyperprolinemia is a risk factor for schizoaffective disorder
48. The European flounder (Platichthys flesus) TP53 functions as a temperature-sensitive transcription factor which inhibits cell growth in yeast
49. 1617P - Clinical Interest of Digital Pcr for Routine Detection of Circulating Dna in Metastatic Colorectal Cancer
50. 565P - A Bar Code of Selected Gene Copy Number Alterations is Associated with Disease-Free Survival in Stage Ii-Iii Microsatellite Stable (Mss) Colon Cancer
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