MMG PUBLICATIONS

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Results: 2318  publications found.

Piard, J.  et al. 2019

Epileptic encephalopathy due to BRAT1 pathogenic variants: report of eight new patients

- issue: 1 - volume: 27 - pages: 263.


Yauy, K.  et al. 2019

Evaluation of missense and splicing in silico predictions tools and implementation of an efficient SNV prioritization NGS pipeline for molecular diagnosis of Myopathies and Muscular Dystrophies

- issue: 1 - volume: 27 - pages: 339.


Pujol, P.  et al. 2019

Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations

- issue: 1 - volume: 27 - pages: 562-563.


Faivre, L.  et al. 2019

Description Osteo-Oto-Hepato-Enteric (O2HE) syndrome, a new recessive autosomal syndrome secondary to loss of function mutations in the UNC45A gene

- issue: 1 - volume: 27 - pages: 795-796.


Greco, A.  et al. 2019

Molecular Inverse Comorbidity between Alzheimer's Disease and Lung Cancer: New Insights from Matrix Factorization

Matrix factorization (MF) is an established paradigm for large-scale biological data analysis with tremendous potential in computational biology. Here, we challenge MF in depicting the molecular bases...
- issue: 13 - volume: 20 - pages: .


Benoit, S.  et al. 2019

Self-report questionnaire vs. clinical evaluation form in the French National Registry on facioscapulohumeral dystrophy: a statistical comparison

- issue: 1, SI - volume: 26 - pages: 325.


Piard, J.  et al. 2019

The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature (vol 21, pg 1308, 2018)

- issue: 7 - volume: 21 - pages: 1667.


Pareyson, D.  et al. 2019

A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)

Objective Charcot-Marie-Tooth (CMT) disease 4B1 and 4B2 (CMT4B1/B2) are characterized by recessive inheritance, early onset, severe course, slowed nerve conduction, and myelin outfoldings. CMT4B3...
- issue: 1 - volume: 86 - pages: 55-67.


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.


Fultang, L.  et al. 2019

Macrophage-Derived IL1beta and TNFalpha Regulate Arginine Metabolism in Neuroblastoma

Neuroblastoma is the most common childhood solid tumor, yet the prognosis for high-risk disease remains poor. We demonstrate here that arginase 2 (ARG2) drives neuroblastoma cell proliferation via...
Cancer Res. - issue: 3 - volume: 79 - pages: 611-624.


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.


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.