Bézieau, Stéphane, 1966-...., chercheur en génétique
Stéphane Bézieau
Bézieau, Stéphane
VIAF ID: 172881018 (Personal)
Permalink: http://viaf.org/viaf/172881018
Preferred Forms
- 100 1 _ ‡a BEZIEAU, STEPHANE.
- 100 1 _ ‡a Bézieau, Stéphane, ‡d 1966-...., ‡c chercheur en génétique
- 100 1 _ ‡a Bézieau, Stéphane
- 100 0 _ ‡a Stéphane Bézieau
4xx's: Alternate Name Forms (2)
Works
Title | Sources |
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Activating Ras mutations in patients with plasma-cell disorders: a reappraisal | |
Assignment of 48 ESTs to Chromosome 13 Band q14.3 and Expression Pattern for ESTs Located in the Core Region Deleted in B-CLL | |
BAK1 gene variation and abdominal aortic aneurysms--results may have been prematurely overrated | |
Cardiac characteristics and long-term outcome in Andersen-Tawil syndrome patients related to KCNJ2 mutation | |
Challenges of Next Generation Sequencing in the exploration of genetic predispositions to breast and/or ovarian cancers. | |
Clinical, histological, and molecular risk factors for cancer recurrence in patients with stage II colon cancer | |
Clinical utility gene card for: acrodermatitis enteropathica - update 2015. | |
Clinical zinc deficiency as early presentation of Wilson disease. | |
Combinations of cytochrome P450 gene polymorphisms enhancing the risk for sporadic colorectal cancer related to red meat consumption. | |
Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death | |
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway | |
Corrigendum: Novel KCNB1 mutation associated with non-syndromic intellectual disability. | |
A de novo germline MLH1 mutation in a Lynch syndrome patient with discordant immunohistochemical and molecular biology test results. | |
Deep learning for detecting BRCA mutations in high-grade ovarian cancer based on an innovative tumor segmentation method from whole-slide images | |
Déficience intellectuelle syndromique liée au gène CUL4B : description phénotypique d'une série de patients et exploration de mécanismes physiopathologiques | |
Les défis du séquençage à haut débit dans l'exploration génétique des cancers du sein et de l'ovaire. | |
Delineation of the infrequent mosaicism ofKRASmutational status in metastatic colorectal adenocarcinomas | |
Differential roles of Hath1, MUC2 and P27Kip1 in relation with gamma-secretase inhibition in human colonic carcinomas: a translational study | |
A dominant vimentin variant causes a rare syndrome with premature aging | |
Enrichment of colorectal cancer associations in functional regions: Insight for using epigenomics data in the analysis of whole genome sequence-imputed GWAS data | |
Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. | |
Étude d'association cas-témoins pour l'identification de gènes de prédisposition au cancer colorectal sporadique | |
Étude de la méthylation du promoteur de BRCA1 sur 126 tumeurs ovariennes au CHU de Nantes | |
Étude du gène SHOX et de la région PAR1 sur une cohorte de 125 patients avec retard de croissance | |
Etude fonctionnelle de variants identifiés par séquençage haut-débit : apports et perspectives | |
Étude rétrospective de la valeur pronostique et prédictive de la détection de la protéine kit dans le mastocytome cutané canin | |
Évaluation des outils d'édition du génome pour les applications biomédicales : du diagnostic au traitement | |
Exclusion of Leu1 and Leu2 genes as tumor suppressor genes in 13q14.3-deleted B-CLL | |
Exploitation d'un contig du chromosome 13 en vue du clonage d'un gène suppresseur de tumeur impliqué dans les leucémies lymphoïdes chroniques de type B | |
A faster strategy for prenatal diagnosis of fragile X syndrome. | |
Functional assays for variants identified through massive parallel sequencing : inputs and outlooks. | |
Functional genomics in a diagnostic setting : ANEVA-DOT pipeline refinement and application to the Congenital Heart Disease GEnetic NEtwork Study cohort | |
Functional informed genome-wide interaction analysis of body mass index, diabetes and colorectal cancer risk | |
Genetic predictors of circulating 25-hydroxyvitamin d and risk of colorectal cancer | |
Genetic variations of the A13/A14 repeat located within the EGFR 3' untranslated region have no oncogenic effect in patients with colorectal cancer | |
Genotypic and immunohistochemical characterization of 15 canine mucosalmelanoma cell lines : validation as a research tool for comparative oncology. | |
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures | |
GestaltMatcher facilitates rare disease matching using facial phenotype descriptors | |
Identification de nouveaux gènes de prédisposition héréditaire au cancer du sein par génotypage tumoral et séquençage de nouvelle génération | |
Identification of a common variant with potential pleiotropic effect on risk of inflammatory bowel disease and colorectal cancer | |
Identification of genetic factors modulating the risk of cancer in women carrying a constitutive mutation of ATM & genomic profile of breast tumours associated with loss of function of ATM.. | |
Identification of human gene located in 17q12 band, coding for a novel F-box protein family member (Fbxo47). Study of protein characteristics. | |
Identification of new breast cancer susceptibility genes by tumor single nucleotide polymorphism array and next generation sequencing. | |
Identification of structural and non-coding variants in patients with neurodevelopmental disorders using a multi-omics approach. | |
Identification of two genes, WDR73 and UBA5, involved in severe syndromic intellectual disability. | |
Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly | |
Impact of the number of Neoadjuvant Chemotherapy (NAC) cycles on survival and morbidity in patients with advanced epithelial ovarian cancer FIGO III-IV | |
Implémentation du haut débit dans l'identification des causes moléculaires de la déficience intellectuelle | |
Implementation of high-throughput sequencing for the identification of the molecular basis of intellectual disability. | |
Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study | |
Mendelian randomization analysis of C-reactive protein on colorectal cancer risk | |
Mise au point d'un test de diagnostic précoce du sarcome histiocytaire chez le bouvier bernois par détection des mutations du gène PTPN11 dans l'ADN circulant du plasma | |
Mise au point et intérêt de l'étude des polymorphismes du gène CYP2D6 chez les patients traités par méthadone | |
A Mixed-Effects Model for Powerful Association Tests in Integrative Functional Genomics. | |
Molecular misdiagnosis in type 2B von Willebrand disease | |
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism | |
New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle Syndrome | |
A novel mutation of the SLC39A4 gene causing acrodermatitis enteropathica | |
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder. | |
Over-expression of neurotensin high-affinity receptor 1 | |
PALB2 : a-t-on trouvé BRCA3? | |
Penetrance of marked cognitive impairment in older male carriers of the FMR1 gene premutation. | |
Performance of multiplicom's BRCA MASTR Dx kit on the detection of BRCA1 and BRCA2 mutations in fresh frozen ovarian and breast tumor samples | |
The PPAR | |
The PPAR(gamma) K422Q mutation does not contribute to troglitazone inefficiency in colon cancer treatment | |
Prédiction par deep learning du statut mutationnel BRCA dans le cancer de l’ovaire de haut-grade sur lames histologiques numérisées, à partir d’une méthodologie innovante de segmentation tumorale, français | |
Reappraisal of the so-called 'villous tumours' of the rectosigmoid, based on histological, immunohistochemical and genotypic features | |
Recherche de mutations du gène ADAMTS13 dans deux cohortes de patients suspects de Syndrome d'Upschaw-Schulman | |
Recherche de nouvelles bases moléculaires responsables de l'acrodermatite entéropathique | |
Safety and Long-Term Efficacy of AAV4 Gene Therapy in Patients with RPE65 Leber Congenital Amaurosis | |
Searching for secondary findings: considering actionability and preserving the right not to know | |
Study of the PTPN11 gene and its mutations in the main tumors of Bernese Mountain Dogs. | |
Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome | |
The thorough screening of the MUTYH gene in a large French cohort of sporadic colorectal cancers. | |
Trans-ethnic genome-wide association study of colorectal cancer identifies a new susceptibility locus in VTI1A. | |
Troubles du neurodéveloppement monogéniques et pénétrance incomplète : changement de paradigme | |
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis | |
The Tunisian population history through the Crigler-Najjar type I syndrome | |
Utilisation de la génomique fonctionnelle dans un contexte diagnostique : amélioration du pipeline ANEVA-DOT et application à une cohorte de patients atteints de pathologies cardiaques congénitales. | |
Des variants "perte de fonction" dans ARHGEF9 sont responsables d'une déficience intellectuelle dominante liée à l'X |