PUBLICATIONS MMG

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Résultats : 1691  publications trouvées.

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: 10 - volume: 63 - pages: 1077-1082.


Boucherie, Q.  et al. 2018

Proton pump inhibitors prescriptions in France: Main trends from 2006 to 2016 on French health insurance database

Because national data on proton pump inbibitors (PPIs) consumption in France are scarce and because there is a growing literature on potential adverse drug reaction induced by this pharmacological...
Therapie - issue: 5 - volume: 73 - pages: 385-388.


Boucherie, Q.  et al. 2018

Proton pump inhibitors prescriptions in France: Main trends from 2006 to 2016 on French health insurance database

Because national data on proton pump inbibitors (PPIs) consumption in France are scarce and because there is a growing literature on potential adverse drug reaction induced by this pharmacological...
- issue: 5 - volume: 73 - pages: 385-388.


Rochais, F.  et al. 2018

Régénération cardiaque : les leçons du développement

- issue: 271 - volume: 2018 - pages: 34-36.


Marzin, P.  et al. 2018

Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations

- issue: 9 - volume: 40 - pages: 768 - 774.


Marzin, P.  et al. 2018

Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations

OBJECTIVE: Heterozygous mutations in the ATP1A3 gene are responsible for various neurological disorders, ranging from early-onset alternating hemiplegia of childhood to adult-onset...
Brain Dev. - issue: 9 - volume: 40 - pages: 768-774.


Shabana, NA.  et al. 2018

Genetic risk score (GRS) constructed from polymorphisms in the PON1, IL-6, ITGB3, and ALDH2 genes is associated with the risk of coronary artery disease in Pakistani subjects

BACKGROUND: Coronary artery disease (CAD) is a major killer in today's world. Pakistan is also affected by this non-communicable disease like other countries. It is a multifactorial disease and is...
Lipids Health Dis - issue: 1 - volume: 17 - pages: 224.


Albarel, F.  et al. 2018

Daily life, needs and expectations of patients with acromegaly in France: An on-line survey

Acromegaly can impair quality of life, but impact on patients' daily life, needs and expectations have been poorly explored. OBJECTIVES: To better understand the impact of acromegaly on patients'...
Ann. Endocrinol. (Paris) - issue: - volume: - pages: .


Blin, G.  et al. 2018

Geometrical confinement controls the asymmetric patterning of brachyury in cultures of pluripotent cells

Diffusible signals are known to orchestrate patterning during embryogenesis, yet diffusion is sensitive to noise. The fact that embryogenesis is remarkably robust suggests that additional layers of...
Development - issue: 18 - volume: 145 - pages: pii: dev166025.


Blin, G.  et al. 2018

Geometrical confinement controls the asymmetric patterning of brachyury in cultures of pluripotent cells

Diffusible signals are known to orchestrate patterning during embryogenesis, yet diffusion is sensitive to noise. The fact that embryogenesis is remarkably robust suggests that additional layers of...
- issue: 18 - volume: 145 - pages: dev166025.


Mignot, C.  et al. 2018

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: - volume: - pages: .


Mignot, C.  et al. 2018

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

PurposeVariants in IQSEC2, escaping X inactivation, cause X-linked intellectual disability with frequent epilepsy in males and females. We aimed to investigate sex-specific differences.MethodsWe...
- issue: - volume: - pages: .


Auguste, Y.  et al. 2018

Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men

Flagella and motile cilia share a 9 + 2 microtubule-doublet axoneme structure, and asthenozoospermia (reduced spermatozoa motility) is found in 76% of men with primary ciliary dyskinesia (PCD)....
Am. J. Hum. Genet. - issue: 3 - volume: 103 - pages: 413-420.


Auguste, Y.  et al. 2018

Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men

Flagella and motile cilia share a 9 + 2 microtubule-doublet axoneme structure, and asthenozoospermia (reduced spermatozoa motility) is found in 76% of men with primary ciliary dyskinesia (PCD)....
Am. J. Hum. Genet. - issue: 3 - volume: 103 - pages: 413-420.


Auguste, Y.  et al. 2018

Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men

- issue: 3 - volume: 103 - pages: 413-420.


Vermalle, M.  et al. 2018

[Hereditary pheochromocytoma and paraganglioma: screening and follow-up strategies in asymptomatic mutation carriers]

The management of pheochromocytoma and paraganglioma has deeply evolved over the last years due to the discovery of novel genes of susceptibility, especially SDHx, MAX and TMEM127. While the...
Ann. Endocrinol. (Paris) - issue: - volume: 79 Suppl 1 - pages: S10-S21.


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.


Chatzifrangkeskou, M.  et al. 2018

Cofilin-1 phosphorylation catalyzed by ERK1/2 alters cardiac actin dynamics in dilated cardiomyopathy caused by lamin A/C gene mutation

Hyper-activation of extracellular signal-regulated kinase (ERK) 1/2 contributes to heart dysfunction in cardiomyopathy caused by mutations in the lamin A/C gene (LMNA cardiomyopathy). The mechanism of...
Hum Mol Genet - issue: 17 - volume: 27 - pages: 3060-3078.


Chatzifrangkeskou, M.  et al. 2018

Cofilin-1 phosphorylation catalyzed by ERK1/2 alters cardiac actin dynamics in dilated cardiomyopathy caused by lamin A/C gene mutation

Hyper-activation of extracellular signal-regulated kinase (ERK) 1/2 contributes to heart dysfunction in cardiomyopathy caused by mutations in the lamin A/C gene (LMNA cardiomyopathy). The mechanism of...
- issue: 17 - volume: 27 - pages: 3060-3078.


Bramswig, N.  et al. 2018

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

- issue: 9 - volume: 137 - pages: 753 - 768.