PUBLICATIONS of MMG

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Résultats : 3220  publications trouvées.

Castinetti, F.  et al. 2019

Age and MEN2 outcome.

Aging (Albany NY) - issue: 11 - volume: 11 - pages: 3416-3417.

O'Donnell-Luria, AH.  et al. 2019

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

We delineate a KMT2E-related neurodevelopmental disorder on the basis of 38 individuals in 36 families. This study includes 31 distinct heterozygous variants in KMT2E (28 ascertained from Matchmaker...
Am. J. Hum. Genet. - issue: 6 - volume: 104 - pages: 1210-1222.

Buxbaum, JN.  et al. 2019

Treatment of hereditary and acquired forms of transthyretin amyloidosis in the era of personalized medicine: the role of randomized controlled trials

There have now been randomized controlled trials of four different therapeutics for hereditary amyloid polyneuropathy related to transthyretin (TTR) deposition and one for amyloidotic cardiomyopathy...
Amyloid - issue: 2 - volume: 26 - pages: 55-65.

Romano, D.  et al. 2019

Relevance of neuroendocrine tumours models assessed by kinomic profiling

- issue: 3 - volume: 80 - pages: 144-148.

Frankel, D.  et al. 2019

Detection of ALK and ROS1 rearrangements by immunocytochemistry on cytological samples

- 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.

Romanet, P.  et al. 2019

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

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

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.