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Résultats : 1691  publications trouvées.

Macagno, N.  et al. 2018

Reduced H3K27me3 Expression is Common in Nodular Melanomas of Childhood Associated With Congenital Melanocytic Nevi But Not in Proliferative Nodules Reply

- issue: 5 - volume: 42 - pages: 701-704.

Pitrez, PR.  et al. 2018

Substrate Topography Modulates Cell Aging on a Progeria Cell Model

Aging is characterized by a progressive accumulation of cellular damage, which leads to impaired function. Little is known whether substrates can influence cell aging. This is of utmost importance in...
- issue: 5 - volume: 4 - pages: 1498-1504.

Ludlow, AT.  et al. 2018

NOVA1 regulates hTERT splicing and cell growth in non-small cell lung cancer

Alternative splicing is dysregulated in cancer and the reactivation of telomerase involves the splicing of TERT transcripts to produce full-length (FL) TERT. Knowledge about the splicing factors that...
- issue: - volume: 9 - pages: .

Bas, J.  et al. 2018

Motor unit number index correlates with disability in Charcot-Marie-Tooth disease

Objective: The aim of this study was to assess the usefulness of motor unit number index (MUNIX) tech-nique in Charcot-Marie-Tooth disease and test the correlation between MUNIX and clinical...
- issue: 7 - volume: 129 - pages: 1390-1396.

Vermalle, M.  et al. 2018

Lack of functional remission in Cushing's syndrome

Hypercortisolism leads to severe clinical consequences persisting after the onset of remission. These physical sequelae of cortisol exposure are known to profoundly impact the patient's quality of...
- issue: 3 - volume: 61 - pages: 518-525.

Renard, D.  et al. 2018

Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome

Facioscapulohumeral muscular dystrophy (FSHD) has been shown to be related to genetic and epigenetic derepression of DUX4 (mapping to chromosome 4), a gene located within a repeat array of D4Z4...
- issue: 8 - volume: 176 - pages: 1760-1763.

Guinde, J.  et al. 2018

Lamins in Lung Cancer: Biomarkers and Key Factors for Disease Progression through miR-9 Regulation?

Lung cancer represents the primary cause of cancer death in the world. Malignant cells identification and characterization are crucial for the diagnosis and management of patients with primary or...
- issue: 7 - volume: 7 - pages: .

Metzler-Guillemain, C.  et al. 2018

The nuclear envelope: an unknown actor of human spermiogenesis

- issue: 1 - volume: 33 - pages: 77-78.

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,...
- issue: - volume: 28 - pages: .

Cuny, T.  et al. 2018

Role of the tumor microenvironment in digestive neuroendocrine tumors

Gastroenteropancreatic neuroendocrine tumors (GEP-NETs) represent a group of heterogeneous tumors whose incidence increased over the past few years. Around half of patients already present with...
- issue: 11 - volume: 25 - pages: R519-R544.

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.