PUBLICATIONS of MMG

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Résultats : 4196  publications trouvées.

Frankel, D.  et al. 2019

Detection of ALK and ROS1 rearrangements by immunocytochemistry on cytological samples

The identification of ALK and ROS1 rearrangements has become essential for the theranostic management of patients with non-small cell lung cancer, especially in stage IV or inoperable patients. These...
- issue: 3 - volume: 39 - pages: 227-236.

Chikhaoui, A.  et al. 2019

Particular forms of xeroderma pigmentosum and Cockayne syndrome in the Tunisian population

- issue: 6 - volume: 180 - pages: E224-E225.

Piard, J.  et al. 2019

The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

Purpose: Germline WWOX pathogenic variants have been associated with disorder of sex differentiation (DSD), spinocerebellar ataxia (SCA), and WWOX-related epileptic encephalopathy (WOREE syndrome). We...
- issue: 6 - volume: 21 - pages: 1308-1318.

Romanet, P.  et al. 2019

Proposition of adjustments to the ACMG-AMP framework for the interpretation of MEN1 missense variants

In 2015, the ACMG-AMP guidelines provided a general procedure for the objective and reproducible classification of genomic variants. While the benefits of this framework are of major importance, its...
- issue: 6 - volume: 40 - pages: 661-674.

Wu, J.  et al. 2019

Loss of Neurological Disease HSAN-I-Associated Gene SPTLC2 Impairs CD8(+) T Cell Responses to Infection by Inhibiting T Cell Metabolic Fitness

- issue: 5 - volume: 50 - pages: 1218+.

Wu, J.  et al. 2019

Loss of Neurological Disease HSAN-I-Associated Gene SPTLC2 Impairs CD8(+) T Cell Responses to Infection by Inhibiting T Cell Metabolic Fitness

Patients with the neurological disorder HSAN-I suffer frequent infections, attributed to a lack of pain sensation and failure to seek care for minor injuries. Whether protective CD8(+) T cells are...
- issue: 5 - volume: 50 - pages: 1218+.

Amedro, P.  et al. 2019

Impact of a centre and home-based cardiac rehabilitation program on the quality of life of teenagers and young adults with congenital heart disease: The QUALI-REHAB study rationale, design and methods

- issue: - volume: 283 - pages: 112-118.

Ghasemizadeh, A.  et al. 2019

Skeletal muscle MACF1 maintains myonuclei and mitochondria localization through microtubules to control muscle functionalities

<h3>Abstract</h3> <p>Skeletal muscle is made from multinuclear myofiber, where myonuclei are positioned at the periphery or clustered below neuromuscular junctions (NMJs). While mispositioned...
- issue: - volume: - pages: 636464.

Amedro, P.  et al. 2019

Impact of a centre and home-based cardiac rehabilitation program on the quality of life of teenagers and young adults with congenital heart disease: The QUALI-REHAB study rationale, design and methods

Background: Advances in congenital heart disease (CHD) have transferred the mortality from childhood to adulthood. Exercise capacity in young patients with CHD remains lower than in the general...
- issue: - volume: 283 - pages: 112-118.

Nguyen, K.  et al. 2019

Whole Exome Sequencing Reveals a Large Genetic Heterogeneity and Revisits the Causes of Hypertrophic Cardiomyopathy

Circ Genom Precis Med - issue: 5 - volume: 12 - pages: e002500.

Juzaud, M.  et al. 2019

Correlation Between Clinical Signs and High-resolution Manometry Data in Children

- issue: 5 - volume: 68 - pages: 642-647.

de Leusse, C.  et al. 2019

Hepatocarcinoma and Cholestasis Associated to Germline Hemizygous Deletion of Gene HNF1B

- issue: 5 - volume: 68 - pages: E85.

Denis, J.  et al. 2019

Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizures

- issue: 5 - volume: 60 - pages: 845-856.

Warnez-Soulie, J.  et al. 2019

Tumor protein 53-induced nuclear protein 1 deficiency alters mouse gastrocnemius muscle function and bioenergetics in vivo

- issue: 10 - volume: 7 - pages: .

Correard, S.  et al. 2019

Canine neuropathies: powerful spontaneous models for human hereditary sensory neuropathies

- issue: 5, SI - volume: 138 - pages: 455-466.

Castinetti, F.  et al. 2019

Immunotherapy-induced endocrinopathies: Insights from the 2018 French Endocrine Society Guidelines

- issue: 5 - volume: 106 - pages: 492-496.

Dallali, H.  et al. 2019

Genetic characterization of suspected MODY patients in Tunisia by targeted next-generation sequencing

- issue: 5 - volume: 56 - pages: 515-523.

Denis, J.  et al. 2019

Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizures.

OBJECTIVE: To describe the mode of onset of SCN8A-related severe epilepsy in order to facilitate early recognition, and eventually early treatment with sodium channel blockers. METHODS: We reviewed...
Epilepsia - issue: 5 - volume: 60 - pages: 845-856.

Castinetti, F.  et al. 2019

[Immunotherapy-induced endocrinopathies: Insights from the 2018 French Endocrine Society Guidelines].

The management of cancer patients has changed due to the considerably more frequent use of immune checkpoint inhibitors (ICPI). However, the use of ICPI has a risk of side-effects, particularly...
Bull Cancer - issue: 5 - volume: 106 - pages: 492-496.

Castinetti, F.  et al. 2019

Radiotherapy as a tool for the treatment of Cushing's disease.

Treatment of Cushing's disease (CD) is one of the most challenging tasks in endocrinology. The first-line treatment, transsphenoidal pituitary surgery, is associated with a high failure rate and a...
Eur J Endocrinol - issue: 5 - volume: 180 - pages: D9-D18.