Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME)

Spatial analysis of the glioblastoma proteome reveals specific molecular signatures and markers of survival.

Duhamel, Marie; Drelich, L.; Wisztorski, Maxence; et al.

Nature Communications, Nature Publishing Group, 06-11-2022, 13, 6665

Article dans une revue scientifiquefulltext

Clinicopathological and molecular characterization of a case classified by DNA‑methylation profiling as \"CNS embryonal tumor with BRD4-LEUTX fusion\".

Lebrun, L.; Allard-Demoustiez, S.; Gilis, N.; et al.

Acta Neuropathologica Communications, BMC, 19-03-2023, 11, 46

Article dans une revue scientifiquefulltext

Imbalance between alpha-1-antitrypsin and interleukin 6 is associated with in-hospital mortality and thrombosis during COVID-19.

Philippe, A.; Puel, M.; Narjoz, C.; et al.

Biochimie, Elsevier, 11-2022, 202, 206-211

Article dans une revue scientifique

Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development.

Romero, D. M.; Poirier, K.; Belvindrah, R.; et al.

Nature Communications, Nature Publishing Group, 18-05-2022, 13, 2746

Article dans une revue scientifiquefulltext

Highlighting the Dystonic Phenotype Related to GNAO1

Wirth, T.; Garone, G.; Kurian, M. A.; et al.

Movement Disorders, Wiley, 06-2022, 37 (7), 1547-1554

Article dans une revue scientifiquefulltext

Are Cirrhotic Patients Receiving Invasive Mechanical Ventilation at Risk of Abundant Microaspiration

Levy, C.; Gaudet, Alexandre; Jaillette, E.; et al.

Journal of Clinical Medicine, 28-10-2022, 11

Article dans une revue scientifiquefulltext

Highlighting the Dystonic Phenotype Related to GNAO1

Wirth, T.; Garone, G.; Kurian, M. A.; et al.

Movement Disorders, 01-07-2022, -, -

Article dans une revue scientifique

Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.

Coursimault, J.; Cassinari, K.; Lecoquierre, F.; et al.

Human Mutation, 19-07-2022

Article dans une revue scientifique

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.

Sy, M. R.; Chauhan, J.; Prescott, K.; et al.

American Journal of Medical Genetics Part A, 29-09-2022

Article dans une revue scientifique

Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364

Administrative institutions

Recent Submissions

Executive functioning in adolescents and adults with Silver-Russell syndrome.

Spatial analysis of the glioblastoma proteome reveals specific molecular signatures and markers of survival.

Clinicopathological and molecular characterization of a case classified by DNA‑methylation profiling as \"CNS embryonal tumor with BRD4-LEUTX fusion\".

Imbalance between alpha-1-antitrypsin and interleukin 6 is associated with in-hospital mortality and thrombosis during COVID-19.

Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development.

Highlighting the Dystonic Phenotype Related to GNAO1

Are Cirrhotic Patients Receiving Invasive Mechanical Ventilation at Risk of Abundant Microaspiration

Highlighting the Dystonic Phenotype Related to GNAO1

Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.

Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364

Administrative institutions

Recent Submissions

Executive functioning in adolescents and adults with Silver-Russell syndrome. ﻿

Spatial analysis of the glioblastoma proteome reveals specific molecular signatures and markers of survival. ﻿

Clinicopathological and molecular characterization of a case classified by DNA‑methylation profiling as \"CNS embryonal tumor with BRD4-LEUTX fusion\". ﻿

Imbalance between alpha-1-antitrypsin and interleukin 6 is associated with in-hospital mortality and thrombosis during COVID-19. ﻿

Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development. ﻿

Highlighting the Dystonic Phenotype Related to GNAO1 ﻿

Are Cirrhotic Patients Receiving Invasive Mechanical Ventilation at Risk of Abundant Microaspiration ﻿

Highlighting the Dystonic Phenotype Related to GNAO1 ﻿

Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients. ﻿

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus. ﻿

Executive functioning in adolescents and adults with Silver-Russell syndrome.

Spatial analysis of the glioblastoma proteome reveals specific molecular signatures and markers of survival.

Clinicopathological and molecular characterization of a case classified by DNA‑methylation profiling as \"CNS embryonal tumor with BRD4-LEUTX fusion\".

Imbalance between alpha-1-antitrypsin and interleukin 6 is associated with in-hospital mortality and thrombosis during COVID-19.

Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development.

Highlighting the Dystonic Phenotype Related to GNAO1

Are Cirrhotic Patients Receiving Invasive Mechanical Ventilation at Risk of Abundant Microaspiration

Highlighting the Dystonic Phenotype Related to GNAO1

Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.