PUBLICATIONS of MMG

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Résultats : 4196  publications trouvées.

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.

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.

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.

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.

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.

Vermalle, M.  et al. 2018

Lack of functional remission in Cushing's syndrome.

INTRODUCTION: Hypercortisolism leads to severe clinical consequences persisting after the onset of remission. These physical sequelae of cortisol exposure are known to profoundly impact the patient's...
Endocrine - issue: 3 - volume: 61 - pages: 518-525.

Ku, CR.  et al. 2018

Long-acting FC-fusion rhGH (GX-H9) shows potential for up to twice-monthly administration in GH-deficient adults.

OBJECTIVE: Hybrid Fc-fused rhGH (GX-H9) is a long-acting recombinant human growth hormone (GH) under clinical development for both adults and children with GH deficiency (GHD). We compared the...
Eur J Endocrinol - issue: 3 - volume: 179 - pages: 169-179.

Romanet, P.  et al. 2018

Clinical study on the efficacy, acceptance, and safety of hearing aids in patients with mild to moderate presbyacusis.

BACKGROUND: The primary objective of this trial was to demonstrate the effect of wearing a Hearing aid (HA) on improvement of hearing and comprehension in everyday life situations. METHODS: This...
Panminerva Med - issue: 3 - volume: 60 - pages: 92-100.

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.