MMG PUBLICATIONS

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Results: 2257  publications found.

Krahn, M.  et al. 2019

A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing

Next-generation sequencing (NGS) gene-panel-based analyses constitute diagnosis strategies which are adapted to the genetic heterogeneity within the field of myopathies, including more than 200...
Eur. J. Hum. Genet. - issue: 3 - volume: 27 - pages: 349-352.


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.


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.


Mignot, C.  et al. 2019

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

PURPOSE: Variants in IQSEC2, escaping X inactivation, cause X-linked intellectual disability with frequent epilepsy in males and females. We aimed to investigate sex-specific differences. METHODS: We...
Genet. Med. - issue: 4 - volume: 21 - pages: 837-849.


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.


Frullanti, E.  et al. 2019

Analysis of the Phenotypes in the Rett Networked Database

Rett spectrum disorder is a progressive neurological disease and the most common genetic cause of intellectual disability in females. MECP2 is the major causative gene. In addition, CDKL5 and FOXG1...
Int J Genomics - issue: - volume: 2019 - pages: 6956934.


Valence, S.  et al. 2019

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

PURPOSE: To investigate the genetic basis of congenital ataxias (CAs), a unique group of cerebellar ataxias with a nonprogressive course, in 20 patients from consanguineous families, and to identify...
Genet. Med. - issue: 3 - volume: 21 - pages: 553-563.


Francastel C, MF.  et al. 2019

DNA methylation in satellite repeats disorders.

Essays Biochem. - issue: - volume: - pages: 63(6):757-771..


Chang, S.  et al. 2019

A gatekeeping function of the replicative polymerase controls pathway choice in the resolution of lesion-stalled replisomes

- issue: 51 - volume: 116 - pages: 25591-25601.


Puceat, M.  et al. 2019

The primary eyelash at the heart of the pathogenesis of the mitral valve prolapse

Med Sci - issue: 11 - volume: 35 - pages: 836-838.


Chang, S.  et al. 2019

A gatekeeping function of the replicative polymerase controls pathway choice in the resolution of lesion-stalled replisomes

DNA lesions stall the replisome and proper resolution of these obstructions is critical for genome stability. Replisomes can directly replicate past a lesion by error-prone translesion synthesis....
- issue: 51 - volume: 116 - pages: 25591-25601.


Almutairi, B.  et al. 2019

Epigenetic deregulation of GATA3 in neuroblastoma is associated with increased GATA3 protein expression and with poor outcomes

- issue: - volume: 9 - pages: .


Almutairi, B.  et al. 2019

Epigenetic deregulation of GATA3 in neuroblastoma is associated with increased GATA3 protein expression and with poor outcomes

To discover epigenetic changes that may underly neuroblastoma pathogenesis, we identified differentially methylated genes in neuroblastoma cells compared to neural crest cells, the presumptive...
Sci Rep - issue: 9 - volume: 1 - pages: 18934.


Almutairi, B.  et al. 2019

Epigenetic deregulation of GATA3 in neuroblastoma is associated with increased GATA3 protein expression and with poor outcomes

To discover epigenetic changes that may underly neuroblastoma pathogenesis, we identified differentially methylated genes in neuroblastoma cells compared to neural crest cells, the presumptive...
- issue: - volume: 9 - pages: .


Dion, C.  et al. 2019

SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite

The DNA methylation epigenetic signature is a key determinant during development. Rules governing its establishment and maintenance remain elusive especially at repetitive sequences, which account for...
Nucleic Acids Res. - issue: 6 - volume: 47 - pages: 2822-2839.


Laberthonnière, C.  et al. 2019

Bring It to an End: Does Telomeres Size Matter?

Telomeres are unique nucleoprotein structures. Found at the edge of each chromosome, their main purpose is to mask DNA ends from the DNA-repair machinery by formation of protective loops. Through life...
Cells - issue: 1 - volume: 8 - pages: .


Sayed, ME.  et al. 2019

NOVA1 directs PTBP1 to hTERT pre-mRNA and promotes telomerase activity in cancer cells

Alternative splicing is dysregulated in cancer cells, driving the production of isoforms that allow tumor cells to survive and continuously proliferate. Part of the reactivation of telomerase involves...
Oncogene - issue: 16 - volume: 38 - pages: 2937-2952.


Grelet, M.  et al. 2019

Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders

- issue: 1 - volume: 14 - pages: .


Swedlund, B.  et al. 2019

Cardiopharyngeal Progenitor Specification: Multiple Roads to the Heart and Head Muscles

During embryonic development, the heart arises from various sources of undifferentiated mesodermal progenitors, with an additional contribution from ectodermal neural crest cells. Mesodermal cardiac...
Cold Spring Harbor perspect Biol - issue: - volume: - pages: .


Malissen, N.  et al. 2019

HVEM has a broader expression than PD-L1 and constitutes a negative prognostic marker and potential treatment target for melanoma

- issue: 12 - volume: 8 - pages: .