Esteve, C. et al. 2018 Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility Despite the rapid discovery of genes for rare genetic disorders, we continue to encounter individuals presenting with syndromic manifestations. Here, we have studied four affected people in three... - issue: 3 - volume: 102 - pages: 364 - 374.
Metais, A. et al. 2018 Asb2 alpha-Filamin A Axis Is Essential for Actin Cytoskeleton Remodeling During Heart Development Rationale: Heart development involves differentiation of cardiac progenitors and assembly of the contractile sarcomere apparatus of cardiomyocytes. However, little is known about the mechanisms that... - issue: 6 - volume: 122 - pages: E34+.
McCormack, A. et al. 2018 Treatment of aggressive pituitary tumours and carcinomas: results of a European Society of Endocrinology (ESE) survey 2016. OBJECTIVE: To collect outcome data in a large cohort of patients with aggressive pituitary tumours (APT)/carcinomas (PC) and specifically report effects of temozolomide (TMZ) treatment. DESIGN:... Eur J Endocrinol - issue: 3 - volume: 178 - pages: 265-276.
Esteve, C. et al. 2018 Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility Despite the rapid discovery of genes for rare genetic disorders, we continue to encounter individuals presenting with syndromic manifestations. Here, we have studied four affected people in three... Am. J. Hum. Genet. - issue: 3 - volume: 102 - pages: 364-374.
Levy, N. et al. 2018 "Pain as the fifth vital sign" and dependence on the "numerical pain scale" is being abandoned in the US: Why? Br. J. Anaesth. - issue: 3 - volume: 120 - pages: 435-438.
Barthelemy, F. et al. 2018 Muscle Cells Fix Breaches by Orchestrating a Membrane Repair Ballet Skeletal muscle undergoes many micro-membrane lesions at physiological state. Based on their sizes and magnitude these lesions are repaired via different complexes on a specific spatio-temporal... - issue: 1 - volume: 5 - pages: 21 - 28.
Moore-Morris, T. et al. 2018 Infarct Fibroblasts Do Not Derive From Bone Marrow Lineages RATIONALE: Myocardial infarction is a major cause of adult mortality worldwide. The origin(s) of cardiac fibroblasts that constitute the postinfarct scar remain controversial, in particular the... Circ Res - issue: 4 - volume: 122 - pages: 583-590.
Moore-Morris, T. et al. 2018 Infarct Fibroblasts Do Not Derive From Bone Marrow Lineages RATIONALE: Myocardial infarction is a major cause of adult mortality worldwide. The origin(s) of cardiac fibroblasts that constitute the postinfarct scar remain controversial, in particular the... Circ Res - issue: 4 - volume: 122 - pages: 583-590.
Amodru, V. et al. 2018 Quantitative F-18-DOPA PET/CT in pheochromocytoma: the relationship between tumor secretion and its biochemical phenotype Introduction F-18-FDOPA illustrates the properties of uptake and storage of catecholamines in pheochromocytomas (PHEOs). Until now, the relationship between F-18-FDOPA quantitative parameters and a... - issue: 2 - volume: 45 - pages: 278-282.
Mancini, J. et al. 2018 Effect of desipramine on patients with breathing disorders in RETT syndrome Objective: Rett Syndrome (RTT) is a severe neurodevelopmental condition with breathing disorders, affecting around one in 10,000 female births. Desipra-mine, a noradrenaline reuptake inhibitor,... - issue: 2 - volume: 5 - pages: 118 - 127.
Noury, J. et al. 2018 Rigid spine syndrome associated with sensory-motor axonal neuropathy resembling Charcot-Marie-Tooth disease is characteristic of Bcl-2-associated athanogene-3 gene mutations even without cardiac involvement - issue: 2 - volume: 57 - pages: 330 - 334.
Ben Rekaya, M. et al. 2018 Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: Impact on molecular diagnosis - issue: 2 - volume: 89 - pages: 172--180.
Noury, J. et al. 2018 RIGID SPINE SYNDROME ASSOCIATED WITH SENSORY-MOTOR AXONAL NEUROPATHY RESEMBLING CHARCOT-MARIE- TOOTH DISEASE IS CHARACTERISTIC OF Bcl-2-ASSOCIATED ATHANOGENE-3 GENE MUTATIONS EVEN WITHOUT CARDIAC INVOLVEMENT Introduction: Bcl-2-associated athanogene-3 (BAG3) mutations have been described in rare cases of rapidly progres-sive myofibrillar myopathies. Symptoms begin in the first decade with axial... Muscle Nerve - issue: 2 - volume: 57 - pages: 330-334.
Bodokh, Y. et al. 2018 ALK-TPM3 rearrangement in adult renal cell carcinoma: Report of a new case showing loss of chromosome 3 and literature review. Seven cases of translocation-associated renal cell carcinoma involving ALK (ALK-tRCC) were referenced in the last World Health Organization's classification (2016), in a group of emerging/provisional... Cancer Genet - issue: - volume: 221 - pages: 31-37.
Reznik, Y. et al. 2018 SFE/SFEDP adrenal insufficiency French consensus: Introduction and handbook. The French endocrinology society (SFE) and the French pediatric endocrinology society (DFSDP) have drawn up recommendations for the management of primary and secondary adrenal insufficiency in the... Ann Endocrinol (Paris) - issue: 1 - volume: 79 - pages: 1-22.
Gilly, O. et al. 2018 Unilateral aggressive pheochromocytoma revealed by a massive intraperitoneal hemorrhage five years after an initial presentation suggesting an adrenal hematoma. Ann Endocrinol (Paris) - issue: 1 - volume: 79 - pages: 48-52.
Amodru, V. et al. 2018 Quantitative (18)F-DOPA PET/CT in pheochromocytoma: the relationship between tumor secretion and its biochemical phenotype. INTRODUCTION: (18)F-FDOPA illustrates the properties of uptake and storage of catecholamines in pheochromocytomas (PHEOs). Until now, the relationship between (18)F-FDOPA quantitative parameters and... Eur J Nucl Med Mol Imaging - issue: 2 - volume: 45 - pages: 278-282.
Guerin, C. et al. 2018 Looking beyond the thyroid: advances in the understanding of pheochromocytoma and hyperparathyroidism phenotypes in MEN2 and of non-MEN2 familial forms. Over the last years, the knowledge of MEN2 and non-MEN2 familial forms of pheochromocytoma (PHEO) has increased. In MEN2, PHEO is the second most frequent disease: the penetrance and age at diagnosis... Endocr Relat Cancer - issue: 2 - volume: 25 - pages: T15-T28.
Castinetti, F. et al. 2018 A comprehensive review on MEN2B. MEN2B is a very rare autosomal dominant hereditary tumor syndrome associated with medullary thyroid carcinoma (MTC) in 100% cases, pheochromocytoma in 50% cases and multiple extra-endocrine features,... Endocr Relat Cancer - issue: 2 - volume: 25 - pages: T29-T39.
Nguyen, K. et al. 2018 L’apport du peignage moléculaire pour révéler la variabilité génétique et la complexité du diagnostic moléculaire dans la dystrophie Facio-Scapulo Humérale. La dystrophie Facio Scapulo Humérale (FSHD) est la troisième dystrophie neuromusculaire par ordre de fréquence. Cette maladie autosomale dominante est liée au locus subtélomérique 4q35 et est associée... - issue: - volume: - pages: .