Perrin, A. et al. 2018 Towards an harmonization of diagnosis by NGS of neuromuscular diseases - issue: Hors-série 2 - volume: 34 - pages: 20-22.
Castinetti, F. et al. 2018 Introduction to expert opinion on endocrine complications of new anticancer therapies Over the last 10 years, cancer treatment has progressed, with increasing use of tyrosine kinase inhibitors, mTOR inhibitors and, most recently, immunotherapy. These molecules, however, also incur... - issue: 5 - volume: 79 - pages: 535-538.
Pinard, A. et al. 2018 Analysis of HOXB1 gene in a cohort of patients with sporadic ventricular septal defect Ventricular septal defect (VSD) including outlet VSD of double outlet right ventricle (DORV) and perimembranous VSD are among the most common congenital heart diseases found at birth. HOXB1 encodes a... - issue: 5 - volume: 45 - pages: 1507-1513.
Le Roy, A. et al. 2018 Immunomodulatory Drugs Exert Anti-Leukemia Effects in Acute Myeloid Leukemia by Direct and Immunostimulatory Activities Immunomodulatory drugs (IMiDs) are anticancer drugs with immunomodulatory, anti-angiogenesis, anti-proliferative, and pro-apoptotic properties. IMiDs are currently used for the treatment of multiple... - issue: - volume: 9 - pages: 977.
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... - issue: 1 - volume: 8 - pages: .
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... - issue: 6 - volume: 7 - pages: .
Balducci, E. et al. 2018 Interphase FISH for BCR-ABL1 rearrangement on neutrophils: A decisive tool to discriminate a lymphoid blast crisis of chronic myeloid leukemia from a de novo BCR-ABL1 positive acute lymphoblastic leukemia Discrimination between lymphoid blast crisis of chronic myeloid leukemia (CML) and de novo BCR-ABL1 positive acute lymphoblastic leukemia (ALL) represents a diagnostic challenge because this... - issue: 1 - volume: 36 - pages: 344-348.
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... - issue: - volume: 221 - pages: 31-37.
Boyer, MG. et al. 2018 Urinary retention associated with aripiprazole: Report of a new case and review of the literature - issue: 3 - volume: 73 - pages: 287-289.
Fabre, A. et al. 2018 STAT3 Gain of Function: A New Kid on the Block in Interstitial Lung Diseases - issue: 11 - volume: 197 - pages: E22-E23.
Paci, M. et al. 2018 The involvement of the nuclear lamina in human and rodent spermiogenesis: a systematic review The nuclear lamina (NL) is a filamentous protein meshwork, composed essentially of lamins, situated between the inner nuclear membrane and the chromatin. The NL is a component of the nuclear envelope,... Basic Clin Androl - issue: - volume: 28 - pages: 7.
Etchevers, H. et al. 2018 The diverse neural crest: from embryology to human pathology We review here some of the historical highlights in exploratory studies of the vertebrate embryonic structure known as the neural crest. The study of the molecular properties of the cells that it... - issue: - volume: - pages: .
Vely, F. et al. 2018 Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome The syndromic diarrhea/trichohepatoenteric syndrome (SD/THE) is a rare and multi-system genetic disorder caused by mutation in SKIV2L or in TTC37, two genes encoding subunits of the putative human SKI... - issue: - volume: 9 - pages: .
Gouriet, F. et al. 2018 Marseille scoring system for empiric treatment of infective endocarditis Despite advances in medical, surgical, and critical care, infective endocarditis (IE) remains associated with considerable morbidity and mortality. We evaluated the performance of the Marseille score,... - issue: 5 - volume: 37 - pages: 841-849.
Jullien, N. et al. 2018 Heterozygous LHX3 mutations may lead to a mild phenotype of combined pituitary hormone deficiency LHX3 is an LIM domain transcription factor involved in the early steps of pituitary ontogenesis. We report here functional studies of three allelic variants, including the first heterozygous variant... - issue: 2 - volume: 27 - pages: 216-225.
Frankel, D. et al. 2018 Morphology quiz: Identification of the origin of metastatic cells in pleural effusion Test yourself in this educational case establishing the nature of the cells present in a pleural effusion of a patient with history of previous skin cancer. - issue: 6 - volume: 29 - pages: 587-589.
Fultang, L. et al. 2018 Macrophage IL-1B and TNF-a create an immune-metabolic loop regulating Arginase2 in neuroblastoma Neuroblastoma is the most common solid tumour of childhood, yet the prognosis for high risk disease remains poor. We demonstrate that arginine metabolism via Arginase 2 (ARG2) drives neuroblastoma... - issue: - volume: - pages: .
Mignon-Ravix, C. et al. 2018 Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst Early myoclonic epilepsy (EME) or Aicardi syndrome is one of the most severe epileptic syndromes affecting neonates. We performed whole exome sequencing in a sporadic case affected by EME and his... Hum. Mutat. - issue: 7 - volume: 39 - pages: 934-938.
Ehinger, Y. et al. 2018 Rett syndrome from bench to bedside: recent advances Rett Syndrome is a severe neurological disorder mainly due to de novo mutations in the methyl-CpG-binding protein 2 gene ( MECP2). Mecp2 is known to play a role in chromatin organization and... F1000Res - issue: - volume: 7 - pages: 398.