Jonghe, P. et al. 2018 PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease Background Charcot-Marie-Tooth type 2 (CMT2) neuropathy is characterised by a vast clinical and genetic heterogeneity complicating its diagnosis and therapeutic intervention. Identification of... - issue: 8 - volume: 89 - pages: 870-878.
Ku, CR. et al. 2018 Long-acting FC-fusion rhGH (GX-H9) shows potential for up to twice-monthly administration in GH-deficient adults Objective: Hybrid Fc-fused rhGH (GX-H9) is a long-acting recombinant human growth hormone (GH) under clinical development for both adults and children with GH deficiency (GHD). We compared the safety,... - issue: 3 - volume: 179 - pages: 169-179.
Matagne, V. et al. 2018 Correcting deregulated Fxydl expression rescues deficits in neuronal arborization and potassium homeostasis in MeCP2 deficient male mice Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the MECP2 gene. In the absence of MeCP2, expression of FXYD domain-containing transport regulator 1 (FXYD1) is deregulated... - issue: - volume: 1697 - pages: 45-52.
Payan, S. et al. 2018 By promoting cardiac regeneration FGF10 preserves cardiac remodeling and function after myocardial infarction - issue: 1 - volume: 114 - pages: S78.
Neumann, HP. et al. 2018 65 YEARS OF THE DOUBLE HELIX Genetics informs precision practice in the diagnosis and management of pheochromocytoma Although the authors of the present review have contributed to genetic discoveries in the field of pheochromocytoma research, we can legitimately ask whether these advances have led to improvements in... - issue: 8 - volume: 25 - pages: T201-T219.
Puceat, M. et al. 2018 A brief overview on iPSC and embryonic stem cell technology - issue: 12 - volume: 29 - pages: A5.
Albarel, F. et al. 2018 Pre-surgical medical treatment, a major prognostic factor for long-term remission in acromegaly PurposeTo determine whether pre-surgical medical treatment (PSMT) using long-acting Somatostatin analogues in acromegaly may improve long-term surgical outcome and to determine decision making... - issue: 6 - volume: 21 - pages: 615-623.
Cavodeassi, F. et al. 2018 The hedgehog pathway and ocular developmental anomalies Mutations in effectors of the Hedgehog signaling pathway are responsible for a wide variety of ocular developmental anomalies (ODA). These range from massive malformations of the brain and ocular... - issue: - volume: - pages: .
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.
Desvignes, J. et al. 2018 VarAFT: a variant annotation and filtration system for human next generation sequencing data With the rapidly developing high-throughput sequencing technologies known as next generation sequencing or NGS, our approach to gene hunting and diagnosis has drastically changed. In <10 years, these... Nucleic Acids Res. - issue: W1 - volume: 46 - pages: W545-W553.
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.
Benoy, V. et al. 2018 HDAC6 is a therapeutic target in mutant GARS-induced Charcot-Marie-Tooth disease Peripheral nerve axons require a well-organized axonal microtubule network for efficient transport to ensure the constant crosstalk between soma and synapse. Mutations in more than 80 different genes... Brain - issue: 3 - volume: 141 - pages: 673-687.
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.