Iqbal, M. et al. 2021 Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies PURPOSE: We aimed to define a novel autosomal recessive neurodevelopmental disorder, characterize its clinical features, and identify the underlying genetic cause for this condition. METHODS: We... Genet Med - issue: - volume: - pages: .
Castinetti, F. et al. 2021 Osilodrostat in Cushing's disease: The risk of delayed adrenal insufficiency should be carefully monitored. Antisecretory data shows a highly effective and prolonged blockade of cortisol secretion with osilodrostat. The drawback is the occurrence of adrenal insufficiency (AI) in roughly a quarter of... Clin Endocrinol (Oxf) - issue: - volume: - pages: .
Le Roux, M. et al. 2021 CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients. CACNA1A pathogenic mutations are involved in various neurological phenotypes including episodic ataxia (EA2), spinocerebellar ataxia (SCA6), and familial hemiplegic migraine (FHM1). Epilepsy is... Eur J Paediatr Neurol - issue: - volume: 33 - pages: 75-85.
Le Roux, M. et al. 2021 CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients CACNA1A pathogenic mutations are involved in various neurological phenotypes including episodic ataxia (EA2), spinocerebellar ataxia (SCA6), and familial hemiplegic migraine (FHM1). Epilepsy is poorly... Eur J Paediatr Neurol - issue: - volume: 33 - pages: 75-85.
Graillon, T. et al. 2021 Role of 3D volume growth rate for drug activity evaluation in meningioma clinical trials: the example of the CEVOREM study. BACKGROUND: We aimed to improve the assessment of the drug activity in meningioma clinical trials based on the study of the 3D volume growth rate (3DVGR) in a series of aggressive meningiomas. We... Neuro Oncol - issue: 7 - volume: 23 - pages: 1139-1147.
Le Roux, M. et al. 2021 CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients. CACNA1A pathogenic mutations are involved in various neurological phenotypes including episodic ataxia (EA2), spinocerebellar ataxia (SCA6), and familial hemiplegic migraine (FHM1). Epilepsy is... Eur J Paediatr Neurol - issue: - volume: 33 - pages: 75-85.
Gentile, A. et al. 2021 The EMT transcription factor Snai1 maintains myocardial wall integrity by repressing intermediate filament gene expression. The transcription factor Snai1, a well-known regulator of epithelial-to-mesenchymal transition, has been implicated in early cardiac morphogenesis as well as in cardiac valve formation. However, a... eLife - issue: - volume: 10 - pages: e66143.
Castinetti, F. et al. 2021 Approach to the Patient Treated with Steroidogenesis Inhibitors. Steroidogenesis inhibitors can be given to control the hypercortisolism of Cushing's syndrome in various situations: when surgery has been unsuccessful or not possible; in metastatic... J Clin Endocrinol Metab - issue: 7 - volume: 106 - pages: 2114-2123.
Salvi, A. et al. 2021 Commentary: Long-Term Exercise Reduces Formation of Tubular Aggregates and Promotes Maintenance of Ca2+ Entry Units in Aged Muscle Front Physiol - issue: - volume: 12 - pages: 663677.
Cuny, T. et al. 2021 Characterization of the ability of a, second-generation SST-DA chimeric molecule, TBR-065, to suppress GH secretion from human GH-secreting adenoma cells. CONTEXT: Somatostatin (SST) and dopamine (DA) inhibit growth hormone (GH) secretion and proliferation of GH-secreting pituitary adenomas (GHomas) through binding to SSTR2 and D2R receptors. Chimeric... Pituitary - issue: 3 - volume: 24 - pages: 351-358.
Saultier, P. et al. 2021 GATA1 pathogenic variants disrupt MYH10 silencing during megakaryopoiesis BACKGROUND: GATA1 is an essential transcription factor for both polyploidization and megakaryocyte (MK) differentiation. The polyploidization defect observed in GATA1 variant carriers is not well... J Thromb Haemost - issue: - volume: - pages: .
Eydoux, R. et al. 2021 Women's perceptions of femininity after craniopharyngioma: a qualitative study. BACKGROUND: Previous quantitative studies have shown a reduced quality of life in patients treated for craniopharyngioma (CP). However, few have assessed their sexual quality of life and other issues... Clin Endocrinol (Oxf) - issue: 5 - volume: 94 - pages: 880-887.
Charnay, T. et al. 2021 Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients PURPOSE: Recent evolution of sequencing technologies and the development of international standards in variant interpretation have profoundly changed the diagnostic approaches in clinical genetics. As... Genet Med - issue: - volume: - pages: .
Ehinger, Y. et al. 2021 Analysis of Astroglial Secretomic Profile in the Mecp2-Deficient Male Mouse Model of Rett Syndrome Mutations in the X-linked MECP2 gene are responsible for Rett syndrome (RTT), a severe neurological disorder. MECP2 is a transcriptional modulator that finely regulates the expression of many genes,... Int J Mol Sci - issue: 9 - volume: 22 - pages: 4316.
Ehinger, Y. et al. 2021 Analysis of Astroglial Secretomic Profile in the Mecp2-Deficient Male Mouse Model of Rett Syndrome. Mutations in the X-linked MECP2 gene are responsible for Rett syndrome (RTT), a severe neurological disorder. MECP2 is a transcriptional modulator that finely regulates the expression of many genes,... Int J Mol Sci - issue: 9 - volume: 22 - pages: .
Stefanovic, S. et al. 2021 Outflow tract formation - Embryonic origins of conotruncal congenital heart disease Anomalies in the cardiac outflow tract (OFT) are among the most frequent congenital heart defects (CHDs). During embryogenesis, the cardiac OFT is a dynamic structure at the arterial pole of the... J Cardiovasc Dev Dis. - issue: 8 - volume: 4 - pages: 42.
Jaouadi, H. et al. 2021 Multiallelic rare variants support an oligogenic origin of sudden cardiac death in the young Unexplained sudden death in the young is cardiovascular in most cases. Structural and conduction defects in cardiac-related genes can conspire to underlie sudden cardiac death. Here we report a... Herz - issue: Suppl 1 - volume: 46 - pages: 94-102.
Aubert Mucca, M. et al. 2021 Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome De novo missense variants in KCNH1 encoding Kv10.1 are responsible for two clinically recognisable phenotypes: Temple-Baraitser syndrome (TBS) and Zimmermann-Laband syndrome (ZLS). The clinical... J Med Genet - issue: - volume: - pages: jmedgenet-2020-107511.
Lo Barco, T. et al. 2021 SYNGAP1-DEE: A visual sensitive epilepsy. OBJECTIVE: To further delineate the electroclinical features of individuals with SYNGAP1 pathogenic variants. METHODS: Participants with pathogenic SYNGAP1 variants and available... Clin Neurophysiol - issue: 4 - volume: 132 - pages: 841-850.
Lo Barco, T. et al. 2021 SYNGAP1-DEE: A visual sensitive epilepsy OBJECTIVE: To further delineate the electroclinical features of individuals with SYNGAP1 pathogenic variants. METHODS: Participants with pathogenic SYNGAP1 variants and available... Clin Neurophysiol - issue: 4 - volume: 132 - pages: 841-850.