MMG PUBLICATIONS

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Results: 3193  publications found.

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...
Hum Mutat - issue: 6 - volume: 40 - pages: 661-674.

Amodru, V.  et al. 2019

Tumor multifocality with vagus nerve involvement as a phenotypic marker of SDHD mutation in patients with head and neck paragangliomas: A (18) F-FDOPA PET/CT study.

BACKGROUND: (18) F-FDOPA PET/CT was proved to be a highly sensitive imaging method for detecting head and neck paraganglioma (HNPGL). The primary aim of the study was to evaluate the relationship...
Head Neck - issue: 6 - volume: 41 - pages: 1565-1571.

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...
Genet. Med. - issue: 6 - volume: 21 - pages: 1308-1318.

Romano, D.  et al. 2019

Relevance of neuroendocrine tumours models assessed by kinomic profiling

Although there is evidence of a significant rise of neuroendocrine tumours (NETs) incidence, current treatments are largely insufficient due to somewhat poor knowledge of these tumours. Despite many...
- issue: 3 - volume: 80 - pages: 144-148.

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.