Dallali, H. et al. 2019 Genetic characterization of suspected MODY patients in Tunisia by targeted next-generation sequencing - issue: 5 - volume: 56 - pages: 515-523.
Castinetti, F. et al. 2019 [Immunotherapy-induced endocrinopathies: Insights from the 2018 French Endocrine Society Guidelines]. The management of cancer patients has changed due to the considerably more frequent use of immune checkpoint inhibitors (ICPI). However, the use of ICPI has a risk of side-effects, particularly... Bull Cancer - issue: 5 - volume: 106 - pages: 492-496.
Castinetti, F. et al. 2019 Radiotherapy as a tool for the treatment of Cushing's disease. Treatment of Cushing's disease (CD) is one of the most challenging tasks in endocrinology. The first-line treatment, transsphenoidal pituitary surgery, is associated with a high failure rate and a... Eur J Endocrinol - issue: 5 - volume: 180 - pages: D9-D18.
Sahakian, N. et al. 2019 Clinical management of difficult to treat macroprolactinomas. INTRODUCTION: Prolactinomas represent the most common pituitary adenomas encountered in the clinic. While a majority of these tumors will be successfully treated by dopamine agonist (DA) such as... Expert Rev Endocrinol Metab - issue: 3 - volume: 14 - pages: 179-192.
Denis, J. et al. 2019 Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizures OBJECTIVE: To describe the mode of onset of SCN8A-related severe epilepsy in order to facilitate early recognition, and eventually early treatment with sodium channel blockers. METHODS: We reviewed... Epilepsia - issue: 5 - volume: 60 - pages: 845-856.
Correard, S. et al. 2019 Canine neuropathies: powerful spontaneous models for human hereditary sensory neuropathies In humans, hereditary sensory neuropathies (HSN), also known as hereditary sensory and autonomic neuropathies (HSAN), constitute a clinically and genetically heterogeneous group of disorders... Hum. Genet. - issue: 5 - volume: 138 - pages: 455-466.
Juzaud, M. et al. 2019 Correlation Between Clinical Signs and High-resolution Manometry Data in Children Objectives: High-resolution manometry (HRM) is the gold standard for diagnosis of esophageal motility disorders. However, clinical signs associated with these disorders are nonspecific, and it is... - issue: 5 - volume: 68 - pages: 642-647.
de Leusse, C. et al. 2019 Hepatocarcinoma and Cholestasis Associated to Germline Hemizygous Deletion of Gene HNF1B - issue: 5 - volume: 68 - pages: E85.
Denis, J. et al. 2019 Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizures Objective: To describe the mode of onset of SCN8A-related severe epilepsy in order to facilitate early recognition, and eventually early treatment with sodium channel blockers. Methods: We reviewed... - issue: 5 - volume: 60 - pages: 845-856.
Warnez-Soulie, J. et al. 2019 Tumor protein 53-induced nuclear protein 1 deficiency alters mouse gastrocnemius muscle function and bioenergetics in vivo Tumor protein 53-induced nuclear protein 1 (TP53INP1) deficiency leads to oxidative stress-associated obesity and insulin resistance. Although skeletal muscle has a predominant role in the development... - issue: 10 - volume: 7 - pages: .
Correard, S. et al. 2019 Canine neuropathies: powerful spontaneous models for human hereditary sensory neuropathies In humans, hereditary sensory neuropathies (HSN), also known as hereditary sensory and autonomic neuropathies (HSAN), constitute a clinically and genetically heterogeneous group of disorders... - issue: 5, SI - volume: 138 - pages: 455-466.
Castinetti, F. et al. 2019 Immunotherapy-induced endocrinopathies: Insights from the 2018 French Endocrine Society Guidelines The management of cancer patients has changed due to the considerably more frequent use of immune checkpoint inhibitors (ICPI). However, the use of ICPI has a risk of side-effects, particularly... - issue: 5 - volume: 106 - pages: 492-496.
Dallali, H. et al. 2019 Genetic characterization of suspected MODY patients in Tunisia by targeted next-generation sequencing AimsMaturity Onset Diabetes of the Young (MODY) is a monogenic form of diabetes with autosomal dominant inheritance pattern. The diagnosis of MODY and its subtypes is based on genetic testing. Our aim... - issue: 5 - volume: 56 - pages: 515-523.
Warnez-Soulie, J. et al. 2019 Tumor protein 53-induced nuclear protein 1 deficiency alters mouse gastrocnemius muscle function and bioenergetics in vivo Tumor protein 53-induced nuclear protein 1 (TP53INP1) deficiency leads to oxidative stress-associated obesity and insulin resistance. Although skeletal muscle has a predominant role in the development... Physiol Rep - issue: 10 - volume: 7 - pages: e14055.
Warnez-Soulie, J. et al. 2019 Tumor protein 53-induced nuclear protein 1 deficiency alters mouse gastrocnemius muscle function and bioenergetics in vivo Tumor protein 53-induced nuclear protein 1 (TP53INP1) deficiency leads to oxidative stress-associated obesity and insulin resistance. Although skeletal muscle has a predominant role in the development... Physiol Rep - issue: 10 - volume: 7 - pages: e14055.
Jaouadi, H. et al. 2019 A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation Noonan syndrome and related disorders are a group of clinically and genetically heterogeneous conditions caused by mutations in genes of the RAS/MAPK pathway. Noonan syndrome causes multiple... Genet Res (Camb) - issue: - volume: 101 - pages: e6.
Jaouadi, H. et al. 2019 A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation Noonan syndrome and related disorders are a group of clinically and genetically heterogeneous conditions caused by mutations in genes of the RAS/MAPK pathway. Noonan syndrome causes multiple... Genet Res (Camb) - issue: - volume: 101 - pages: e6.
Jaouadi, H. et al. 2019 A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation Noonan syndrome and related disorders are a group of clinically and genetically heterogeneous conditions caused by mutations in genes of the RAS/MAPK pathway. Noonan syndrome causes multiple... - issue: - volume: 101 - pages: .
Neri, T. et al. 2019 Human pre-valvular endocardial cells derived from pluripotent stem cells recapitulate cardiac pathophysiological valvulogenesis Genetically modified mice have advanced our understanding of valve development and disease. Yet, human pathophysiological valvulogenesis remains poorly understood. Here we report that, by... Nat Commun - issue: 1 - volume: 10 - pages: 1929.
Neri, T. et al. 2019 Human pre-valvular endocardial cells derived from pluripotent stem cells recapitulate cardiac pathophysiological valvulogenesis Genetically modified mice have advanced our understanding of valve development and disease. Yet, human pathophysiological valvulogenesis remains poorly understood. Here we report that, by combining... Nat Commun - issue: 1 - volume: 10 - pages: 1929.