MMG PUBLICATIONS

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Results: 1691  publications found.

Barthelemy, F.  et al. 2018

Dysferlin Exon 32 Skipping in Patient Cells

Dysferlinopathies are rare genetic diseases affecting muscles due to mutations in DYSF. Exon 32 of DYSF has been shown to be dispensable for dysferlin functions. Here we present a method to visualize...
- issue: - volume: 1828 - pages: 489-496.


Bramswig, NC.  et al. 2018

Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

NALCN is a conserved cation channel, which conducts a permanent sodium leak current and regulates resting membrane potential and neuronal excitability. It is part of a large ion channel complex, the...
Hum. Genet. - issue: 9 - volume: 137 - pages: 753-768.


Ghedira, N.  et al. 2018

Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome

BACKGROUND: Noonan syndrome (NS) is an autosomal dominant multisystem disorder caused by the dysregulation of several genes belonging to the RAS Mitogen Activated Protein Kinase (MAPK) signaling...
BMC Pediatr - issue: 1 - volume: 18 - pages: 286.


Ghedira, N.  et al. 2018

Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome

BACKGROUND:Noonan syndrome (NS) is an autosomal dominant multisystem disorder caused by the dysregulation of several genes belonging to the RAS Mitogen Activated Protein Kinase (MAPK) signaling...
- issue: 1 - volume: 18 - pages: 286.


Nguyen, K.  et al. 2018

Genetic spectrum of hypertrophic cardiomyopathy revisited. Whole Exome Sequencing reveals extreme genetic heterogeneity and new gene mutations in a multicenter series of 200 patients

Background and objectives: Hypertrophic cardiomyopathy (HCM) is expected to be caused by a heterozygous mutation in one of the 5 main sarcomere genes (MYBPC3, MYH7, TNNT2, MYL2, TNNI3). However, the...
- issue: - volume: 39 - pages: .


Zaffran, S.  et al. 2018

Ectopic expression of Hoxb1 induces cardiac and craniofacial malformations

Members of the large family of Hox transcription factors are encoded by genes whose tightly regulated expression in development and in space within different embryonic tissues confer positional...
Genesis - issue: 5-6 - volume: 56 - pages: e23221.


Cavodeassi, F.  et al. 2018

The hedgehog pathway and ocular developmental anomalies

Mutations in effectors of the hedgehog signaling pathway are responsible for a wide variety of ocular developmental anomalies. These range from massive malformations of the brain and ocular primordia,...
Hum. Genet. - issue: - volume: - pages: .


Cavodeassi, F.  et al. 2018

The hedgehog pathway and ocular developmental anomalies

Mutations in effectors of the hedgehog signaling pathway are responsible for a wide variety of ocular developmental anomalies. These range from massive malformations of the brain and ocular primordia,...
Hum Genet - issue: - volume: - pages: .


Cavodeassi, F.  et al. 2018

The hedgehog pathway and ocular developmental anomalies

Mutations in effectors of the hedgehog signaling pathway are responsible for a wide variety of ocular developmental anomalies. These range from massive malformations of the brain and ocular primordia,...
Hum. Genet. - issue: - volume: - pages: .


Juneja, M.  et al. 2018

PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease

BACKGROUND: Charcot-Marie-Tooth type 2 (CMT2) neuropathy is characterised by a vast clinical and genetic heterogeneity complicating its diagnosis and therapeutic intervention. Identification of...
J. Neurol. Neurosurg. Psychiatry - issue: 8 - volume: 89 - pages: 870-878.


Frankel, D.  et al. 2018

MicroRNAs in hereditary and sporadic premature aging syndromes and other laminopathies

Hereditary and sporadic laminopathies are caused by mutations in genes encoding lamins, their partners, or the metalloprotease ZMPSTE24/FACE1. Depending on the clinical phenotype, they are classified...
- issue: 4 - volume: 17 - pages: e12766.


Trainer, PJ.  et al. 2018

A randomised, open-label, parallel group phase 2 study of antisense oligonucleotide therapy in acromegaly

Objective: ATL1103 is a second-generation antisense oligomer targeting the human growth hormone (GH) receptor. This phase 2 randomised, open-label, parallel-group study assessed the potential of...
- issue: 2 - volume: 179 - pages: 97-108.


Koy, A.  et al. 2018

Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia

Background: Exacerbation of hyperkinesia is a life-threatening complication of dyskinetic movement disorders, which can lead to multi-organ failure and even to death. GNAO1 has been recently...
- issue: - volume: 391 - pages: 31-39.


Martin, S.  et al. 2018

Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study

BACKGROUND: 16p11.2 breakpoint 4 to 5 copy number variants (CNVs) increase the risk for developing autism spectrum disorder, schizophrenia, and language and cognitive impairment. In this multisite...
- issue: 4 - volume: 84 - pages: 253 - 264.


El-Bazzal, L.  et al. 2018

A novel EXT2 mutation in a consanguineous family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia extends the phenotypic spectrum of autosomal recessive EXT2-related syndrome (AREXT2)

We report a consanguineous family where 2 boys presented with developmental delay, hypotonia, microcephaly, seizures, gastro-intestinal abnormalities, osteopenia, and neurological regression. Whole...
Eur J Med Genet - issue: - volume: - pages: .


El-Bazzal, L.  et al. 2018

A novel EXT2 mutation in a consanguineous family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia extends the phenotypic spectrum of autosomal recessive EXT2-related syndrome (AREXT2)

We report a consanguineous family where 2 boys presented with developmental delay, hypotonia, microcephaly, seizures, gastro-intestinal abnormalities, osteopenia, and neurological regression. Whole...
Eur J Med Genet - issue: - volume: - pages: .


Jaouadi, H.  et al. 2018

Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features

Pediatric cardiomyopathy is a complex disease with clinical and genetic heterogeneity. Recently, the ALPK3 gene was described as a new hereditary cardiomyopathy gene underlying pediatric...
J Hum Genet - issue: - volume: 63 - pages: 1077-1082.


Jaouadi, H.  et al. 2018

Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features.

Pediatric cardiomyopathy is a complex disease with clinical and genetic heterogeneity. Recently, the ALPK3 gene was described as a new hereditary cardiomyopathy gene underlying pediatric...
- issue: - volume: 63 - pages: 1077--1082.


Shabana, n.  et al. 2018

Use of a gene score of multiple low-modest effect size variants can predict the risk of obesity better than the individual SNPs

BACKGROUND: Obesity is a complex disorder, the development of which is modulated by a multitude of environmental, behavioral and genetic factors. The common forms of obesity are polygenic in nature...
Lipids Health Dis - issue: 1 - volume: 17 - pages: 155.


Valdeolivas, A.  et al. 2018

Random Walk with Restart on Multiplex and Heterogeneous Biological Networks

Motivation: Recentyears have witnessed anexponentialgrowthin thenumberof identified interactions between biological molecules. These interactions are usually represented as large and complex networks,...
Bioinformatics - issue: - volume: - pages: .