Lo Cicero, A. et al. 2018 Pathological modelling of pigmentation disorders associated with Hutchinson-Gilford Progeria Syndrome (HGPS) revealed an impaired melanogenesis pathway in iPS-derived melanocytes Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare genetic disorder that leads to premature aging. In this study, we used induced pluripotent stem cells to investigate the hypopigmentation... Sci Rep - issue: 1 - volume: 8 - pages: 9112.
Tazi-Mezalek, R. et al. 2018 Chest ultrasonography to assess the kinetics and efficacy of talc pleurodesis in a model of pneumothorax: an experimental animal study Talc pleurodesis is used to avoid recurrences in malignant pleural effusions or pneumothorax. The lack of lung sliding detected by chest ultrasonography (CUS) after talc application is indicative of... - issue: 2 - volume: 4 - pages: 00158-2017.
Odelin, G. et al. 2018 Krox20 defines a subpopulation of cardiac neural crest cells contributing to arterial valves and bicuspid aortic valve Although cardiac neural crest cells are required at early stages of arterial valve development, their contribution during valvular leaflet maturation remains poorly understood. Here, we show in mouse... Development - issue: 1 - volume: 145 - pages: pii: dev151944.
Amedro, P. et al. 2018 Cardiopulmonary fitness in children with congenital heart diseases versus healthy children. ClinicalTrials.gov NCT01202916;Post-results. - issue: - volume: - pages: 1026-1036.
Zaffran, S. et al. 2018 Ectopic expression of Hoxb1 induces cardiac and craniofacial malformations Members of the large family of Hox transcription factors are encoded by genes whose tightly regulated expression in development and in space within different embryonic tissues confer positional... - issue: 6-7 - volume: 56 - pages: e23221.
Bourgeois, P. et al. 2018 Tricho-Hepato-Enteric Syndromemutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects Tricho-Hepato-Enteric syndrome (THES) is a very rare autosomal recessive syndromic enteropathy caused by mutations of either TTC37 or SKIV2L genes. Very little is known of these two gene products in... - issue: 6 - volume: 39 - pages: 774-789.
Tordjman, S. et al. 2018 Repint of ``Reframing autism as a behavioral syndrome and not a specific mental disorder: Implications of genetic and phenotypic heterogeneity'' Clinical and molecular genetics have advanced current knowledge on genetic disorders associated with autism. A review of diverse genetic disorders associated with autism is presented and for the first... - issue: - volume: 89 - pages: 132-150.
Paladino, NC. et al. 2018 Characterization of adrenocortical tumors by F-18-FDG PET/CT: Does steroid hormone hypersecretion status modify the uptake pattern? Background: adrenal tumor-to-liver uptake value (Tmx:Lmx) on F-18-FDG PET/CT is an accurate and reproducible PET parameter in the distinction between benign and malignant adrenal masses. The potential... - issue: 2 - volume: 27 - pages: 231-235.
Brue, T. et al. 2018 Management of Cushing's syndrome during pregnancy: solved and unsolved questions With fewer than 200 reported cases, Cushing's syndrome (CS) in pregnancy remains a diagnostic and therapeutic challenge. In normal pregnancies, misleading signs may be observed such as striae or... - issue: 6 - volume: 178 - pages: R259-R266.
Bourgeois, P. et al. 2018 Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects Tricho-Hepato-Enteric syndrome (THES) is a very rare autosomal recessive syndromic enteropathy caused by mutations of either TTC37 or SKIV2L genes. Very little is known of these two gene products in... Hum. Mutat. - issue: 6 - volume: 39 - pages: 774-789.
Paladino, NC. et al. 2018 Characterization of adrenocortical tumors by (18)F-FDG PET/CT: Does steroid hormone hypersecretion status modify the uptake pattern? BACKGROUND: adrenal tumor-to-liver uptake value (Tmx:Lmx) on (18)F-FDG PET/CT is an accurate and reproducible PET parameter in the distinction between benign and malignant adrenal masses. The... Surg Oncol - issue: 2 - volume: 27 - pages: 231-235.
Brue, T. et al. 2018 MANAGEMENT OF ENDOCRINE DISEASE: Management of Cushing's syndrome during pregnancy: solved and unsolved questions. With fewer than 200 reported cases, Cushing's syndrome (CS) in pregnancy remains a diagnostic and therapeutic challenge. In normal pregnancies, misleading signs may be observed such as striae or... Eur J Endocrinol - issue: 6 - volume: 178 - pages: R259-R266.
Papoutsi, T. et al. 2018 Bmp2 and Notch cooperate to pattern the embryonic endocardium Signaling interactions between myocardium and endocardium pattern embryonic cardiac regions, instructing their development to fulfill specific functions in the mature heart. We show that ectopic Bmp2... Development - issue: 13 - volume: 145 - pages: pii: dev163378..
Amouroux, M. et al. 2018 Are men ready to use thermal male contraception? Acceptability in two French populations: New fathers and new providers BACKGROUND:Since the 1970s, international research has actively pursued hormonal male contraception (HMC) and, to a lesser extent, thermal male contraception (TMC). Although the efficacy of TMC has... - issue: 5 - volume: 13 - pages: e0195824.
Bahougne, T. et al. 2018 Functioning Mediastinal Paraganglioma Associated with a Germline Mutation of von Hippel-Lindau Gene We report the case of a 21-year old woman presenting with high blood pressure and raised normetanephrine levels. Indium-111-pentetreotide single photon-emission computed tomography with computed... J Clin Med - issue: 6 - volume: 7 - pages: .
Bahougne, T. et al. 2018 Functioning Mediastinal Paraganglioma Associated with a Germline Mutation of von Hippel-Lindau Gene. We report the case of a 21-year old woman presenting with high blood pressure and raised normetanephrine levels. Indium-111-pentetreotide single photon-emission computed tomography with computed... J Clin Med - issue: 6 - volume: 7 - pages: .
Rulands, S. et al. 2018 Universality of Clone Dynamics During Tissue Development The emergence of complex organs is driven by the coordinated proliferation, migration and differentiation of precursor cells. The fate behaviour of these cells is reflected in the time evolution their... Nat Phys - issue: 14 - volume: 5 - pages: 469-474.
Caulier, A. et al. 2018 Primary red cell hydration disorders: Pathogenesis and diagnosis Hydration status is critical for erythrocyte survival and is mainly determined by intracellular cation content. Active pumps, passive transporters, and ion channels are the key components of volume... Int J Lab Hematol - issue: - volume: 40 Suppl 1 - pages: 68-73.
Young, J. et al. 2018 Hepatic safety of ketoconazole in Cushing's syndrome: results of a Compassionate Use Programme in France. OBJECTIVE: Ketoconazole (KTZ) is one of few available treatments for Cushing's syndrome (CS). Although KTZ has been associated with severe hepatotoxicity, little information is available about... Eur J Endocrinol - issue: 5 - volume: 178 - pages: 447-458.
Frankel, D. et al. 2018 MicroRNAs in hereditary and sporadic premature aging syndromes and other laminopathies Hereditary and sporadic laminopathies are caused by mutations in genes encoding lamins, their partners, or the metalloprotease ZMPSTE24/FACE1. Depending on the clinical phenotype, they are classified... Aging Cell - issue: - volume: - pages: e12766.