Vergier, J. et al. 2019 DIAGNOSIS OF ENDOCRINE DISEASE: Pituitary stalk interruption syndrome: etiology and clinical manifestations. Pituitary stalk interruption syndrome (PSIS) is a congenital pituitary anatomical defect. This syndrome is an antenatal developmental defect belonging to the holoprosencephaly phenotype spectrum. It... Eur J Endocrinol - issue: 5 - volume: 181 - pages: R199-R209.
Valassi, E. et al. 2019 High mortality within 90 days of diagnosis in patients with Cushing's syndrome: results from the ERCUSYN registry Objective: Patients with Cushing's syndrome (CS) have increased mortality. The aim of this study was to evaluate the causes and time of death in a large cohort of patients with CS and to establish... - issue: 5 - volume: 181 - pages: 461-472.
Vergier, J. et al. 2019 Pituitary stalk interruption syndrome: etiology and clinical manifestations Pituitary stalk interruption syndrome (PSIS) is a congenital pituitary anatomical defect. This syndrome is an antenatal developmental defect belonging to the holoprosencephaly phenotype spectrum. It... - issue: 5 - volume: 181 - pages: R199-R209.
Gorokhova, S. et al. 2019 Significant contribution of intragenic deletions to ARID1B mutation spectrum - issue: 11 - volume: 21 - pages: 2654-2655.
Megarbane, A. et al. 2019 A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22) Joubert syndrome (JS) is an autosomal or X-linked recessive syndrome principally characterized by hypotonia, ataxia, cognitive impairment, and a specific finding on brain imaging called a “molar tooth... - issue: 11 - volume: 62 - pages: .
Saunders, G. et al. 2019 Leveraging European European infrastructures to access 1 million human genomes by 2022 Human genomics is undergoing a step change from being a predominantly research-driven activity to one driven through health care as many countries in Europe now have nascent precision medicine... - issue: 11 - volume: 20 - pages: 692-701.
Vergier, J. et al. 2019 Fertility preservation in Turner syndrome: Karyotype does not predict ovarian response to stimulation Objective Turner syndrome (TS) is responsible for gonadal dysgenesis with high risk of premature ovarian insufficiency. Little is known about fertility preservation (FP) strategies is this population.... - issue: 5 - volume: 91 - pages: 646-651.
Mégarbané, A. et al. 2019 A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22) Joubert syndrome (JS) is an autosomal or X-linked recessive syndrome principally characterized by hypotonia, ataxia, cognitive impairment, and a specific finding on brain imaging called a "molar tooth... Eur J Med Genet - issue: 11 - volume: 62 - pages: 103576.
Magdinier, F. et al. 2019 [Marseille welcomes the FSHD Society International Research Conference]. Neuromuscul Disord . - issue: 29 - volume: 10 - pages: 811-817.
Mezouar, S. et al. 2019 Full-Term Human Placental Macrophages Eliminate Coxiella burnetii Through an IFN-gamma Autocrine Loop - issue: - volume: 10 - pages: .
Mezouar, S. et al. 2019 Full-Term Human Placental Macrophages Eliminate Coxiella burnetii Through an IFN-gamma Autocrine Loop The intracellular bacterium Coxiella burnetii is responsible for Q fever, an infectious disease that increases the risk of abortion, preterm labor, and stillbirth in pregnant women. It has been shown... - issue: - volume: 10 - pages: .
Nicolle, R. et al. 2019 Integrated molecular characterization of chondrosarcoma reveals critical determinants of disease progression - issue: - volume: 10 - pages: .
Nicolle, R. et al. 2019 Integrated molecular characterization of chondrosarcoma reveals critical determinants of disease progression Chondrosarcomas are primary cancers of cartilaginous tissue with highly contrasting prognoses. These tumors are defined by recurrent mutations in the IDH genes and other genetic alterations including... - issue: - volume: 10 - pages: .
Takada, H. et al. 2019 Identification of 2,6-Disubstituted 3H-Imidazo[4,5-b]pyridines as Therapeutic Agents for Dysferlinopathies through Phenotypic Screening on Patient-Derived Induced Pluripotent Stem Cells Dysferlinopathies, which are muscular diseases caused by mutations in the dysferlin gene, remain serious medical problems due to the lack of therapeutic agents. Herein, we report the design,... J. Med. Chem. - issue: - volume: - pages: .
Fortanier, E. et al. 2019 Structural Connectivity Alterations in Amyotrophic Lateral Sclerosis: A Graph Theory Based Imaging Study - issue: - volume: 13 - pages: .
Fortanier, E. et al. 2019 Structural Connectivity Alterations in Amyotrophic Lateral Sclerosis: A Graph Theory Based Imaging Study Background: Amyotrophic lateral sclerosis (ALS) is a relentlessly progressive neurodegenerative disorder. Diffusion magnetic resonance imagining (MRI) studies have consistently showed widespread... - issue: - volume: 13 - pages: .
Kinoshita, J. et al. 2019 26th Annual Facioscapulohumeral Dystrophy International Research Congress Marseille, France, 19-20 June 2019 Neuromuscul. Disord. - issue: 10 - volume: 29 - pages: 811-817.
Grelet, M. et al. 2019 SATB2-associated syndrome: first report of a gonadal and somatic mosaicism for an intragenic copy number variation - issue: 4 - volume: 28 - pages: 205-210.
Suffee-Mosbah, N. et al. 2019 A subpopulation of epicardium-derived cells are preprogrammed towards fibroblast differentiation in the atrial myocardium - issue: 1 - volume: 40 - pages: 688.
Kinoshita, J. et al. 2019 26th Annual Facioscapulohumeral Dystrophy International Research Congress Marseille, France, 19-20 June 2019 - issue: 10 - volume: 29 - pages: 811-817.