Andrée Delahaye-Duriez
机构: Université Sorbonne Paris Nord / AP-HP
每年引用次数
引用次数
引用: 2,511
H-指数: 30
I10-指数 : 39
出版物: 86
Clinical Evaluation of a Reverse Hybridization Assay for the Molecular Detection of Twelve MEFV Gene Mutations
Dimitri Tchernitchko , Marie Legendre , Andrée Delahaye , Cécile Cazeneuve
Clinical Chemistry 49 ( 11) 1942 -1945
28
2003
New evidence that biallelic loss of function in EEF1B2 gene leads to intellectual disability.
Lise Larcher , Julien Buratti , Bénédicte Héron‐Longe , Brigitte Benzacken
Clinical Genetics 97 ( 4) 639 -643
2020
Lessons from two series by physicians and caregivers' self‐reported data in DDX3X‐related disorders
Valentin Ruault , Pauline Burger , Johanna Gradels‐Hauguel , Nathalie Ruiz
Molecular Genetics & Genomic Medicine 12 ( 1) e2363 -e2363
2024
Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity?
P Castronovo , A Delahaye-Duriez , C Gervasini , J Azzollini
Clinical Genetics 78 ( 6) 560 -564
25
2010
DDX3X mutations in 11 french patients with intellectual disability: new phenotypic features
V Ruault , C Coubes , P Charles , M Vincent
EUROPEAN JOURNAL OF HUMAN GENETICS 27 217 -218
2019
Astrocytic changes and neurovascular remodelling in jmTBI model after systemic perinatal inflammation
L Hippauf , T Clement , A Delahaye-Duriez , J Van Steenwinckel
JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM 42 ( 1_ SUPPL) 63 -63
2022
Early exposure to Inflammation imbalance immune and developmental populations of microglia
S Foulon , A Dufour , A Heydari-Olya , V Faivre
GLIA 71 E494 -E495
1
2023
Comparison of brain damages between male and female in a model of encephalopathy of prematurity: study of a sexual dimorphism
J Hua , G Favrais , A Delahaye-Duriez , P Gressens
GLIA 71 E848 -E848
2023
The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever.
Dimitri Tchernitchko , Marie Legendre , C�cile Cazeneuve , Andr�e Delahaye
Human Mutation 22 ( 4) 339 -340
85
2003
Mosaicismo somatico nella sindrome di Cornelia de Lange: un ulteriore contributo all’eterogeneità’clinica
P Castronovo , A Delahaye Duriez , C Gervasini , J Azzollini
2009
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.
Alice Goldenberg , Florence Riccardi , Aude Tessier , Rolph Pfundt
American Journal of Medical Genetics Part A 170 ( 11) 2847 -2859
27
2016
NR4A2 haploinsufficiency is associated with intellectual disability and autism spectrum disorder.
Jonathan Lévy , Sarah Grotto , Cyril Mignot , A Maruani
Clinical Genetics 94 ( 2) 264 -268
11
2018
Top-m identification for linear bandits
Emilie Kaufmann , Emilie Kaufmann , Emilie Kaufmann , Clémence Réda
international conference on artificial intelligence and statistics 130 1108 -1116
2021
Loss of the Wnt/β-catenin pathway in microglia of the developing brain drives pro-inflammatory activation leading to white matter injury
Juliette Van Steenwinckel , Anne-Laure Schang , Michelle L Krishnan , Vincent Degos
bioRxiv 334359
5
2018
Machine learning applications in drug development.
Clémence Réda , Emilie Kaufmann , Andrée Delahaye-Duriez
Computational and structural biotechnology journal 18 241 -252
137
2020
Intégration des données de RNAseq sur cellule unique du cerveau
Andrée Delahaye-Duriez , Brigitte Benzacken , Michael Johnson , Enrico Petretto
Morphologie 101 ( 335) 240 -241
2017
Les approches de génomique intégrative identifient un réseau de gènes pour le développement de médicaments anti-épileptiques
Andrée Delahaye-Duriez , Prashant Srivastava , Kirill Shkura , Sarah Langley
Morphologie 102 ( 338) 147
2018
WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation
Cyril Mignot , Laetitia Lambert , Laurent Pasquier , Thierry Bienvenu
Journal of Medical Genetics 52 ( 1) 61 -70
45
2015
Cell Metabolic Alterations due to Mcph1 Mutation in Microcephaly
Nathalie Journiac , Javier Gilabert-Juan , Sara Cipriani , Paule Benit
Cell Reports 31 ( 2) 107506
20
2020
16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations
Laïla Allach El Khattabi , Solveig Heide , Jean-Hubert Caberg , Joris Andrieux
Journal of Medical Genetics 57 ( 5) 301 -307
11
2020