MMG PUBLICATIONS

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Results: 1238  publications found.

Gordon, CT.  et al. 2017

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects. We report here that missense...
Nature Genet. - issue: 2 - volume: 49 - pages: 249-255.


Duclos, Y.  et al. 2017

Motor-evoked potential gain is a helpful test for the detection of corticospinal tract dysfunction in amyotrophic lateral sclerosis

OBJECTIVE: The detection of upper motor neuron (UMN) dysfunction is necessary for the diagnosis of amyotrophic lateral sclerosis (ALS). However, signs of UMN dysfunction may be difficult to establish....
Clin Neurophysiol - issue: 2 - volume: 128 - pages: 357-364.


Roux, M.  et al. 2017

Hoxa1 and Hoxb1 are required for pharyngeal arch artery development

Hox transcription factors play critical roles during early vertebrate development. Previous studies have revealed an overlapping function of Hoxa1 and Hoxb1 during specification of the rhombomeres...
Mech. Dev. - issue: - volume: 143 - pages: 1-8.


Stefanovic, S.  et al. 2017

Mechanisms of retinoic acid signaling during cardiogenesis

Substantial experimental and epidemiological data have highlighted the interplay between nutritional and genetic factors in the development of congenital heart defects. Retinoic acid (RA), a...
Mech. Dev. - issue: - volume: 143 - pages: 9-19.


Roux, M.  et al. 2017

Hoxa1 and Hoxb1 are required for pharyngeal arch artery development

Hox transcription factors play critical roles during early vertebrate development. Previous studies have revealed an overlapping function of Hoxa1 and Hoxb1 during specification of the rhombomeres...
Mech. Dev. - issue: - volume: 143 - pages: 1-8.


Arnaud, P.  et al. 2017

Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome

BACKGROUND: Marfan syndrome (MFS) is an autosomal-dominant connective tissue disorder usually associated with heterozygous mutations in the gene encoding fibrillin-1 (FBN1). Homozygous and compound...
J. Med. Genet. - issue: 2 - volume: 54 - pages: 100-103.


Roux, M.  et al. 2017

Hoxa1 and Hoxb1 are required for pharyngeal arch artery development

Hox transcription factors play critical roles during early vertebrate development. Previous studies have revealed an overlapping function of Hoxa1 and Hoxb1 during specification of the rhombomeres...
Mech. Dev. - issue: - volume: 143 - pages: 1-8.


Duclos, Y.  et al. 2017

Motor-evoked potential gain is a helpful test for the detection of corticospinal tract dysfunction in amyotrophic lateral sclerosis

OBJECTIVE: The detection of upper motor neuron (UMN) dysfunction is necessary for the diagnosis of amyotrophic lateral sclerosis (ALS). However, signs of UMN dysfunction may be difficult to establish....
Clin Neurophysiol - issue: 2 - volume: 128 - pages: 357-364.


Stefanovic, S.  et al. 2017

Mechanisms of retinoic acid signaling during cardiogenesis

Substantial experimental and epidemiological data have highlighted the interplay between nutritional and genetic factors in the development of congenital heart defects. Retinoic acid (RA), a...
Mech. Dev. - issue: - volume: 143 - pages: 9-19.


Gordon, CT.  et al. 2017

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects. We report here that missense...
Nat. Genet. - issue: 2 - volume: 49 - pages: 249-255.


Stefanovic, S.  et al. 2017

Mechanisms of retinoic acid signaling during cardiogenesis

Substantial experimental and epidemiological data have highlighted the interplay between nutritional and genetic factors in the development of congenital heart defects. Retinoic acid (RA), a...
Mech. Dev. - issue: - volume: 143 - pages: 9-19.


Arnaud, P.  et al. 2017

Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome

BACKGROUND: Marfan syndrome (MFS) is an autosomal-dominant connective tissue disorder usually associated with heterozygous mutations in the gene encoding fibrillin-1 (FBN1). Homozygous and compound...
J. Med. Genet. - issue: 2 - volume: 54 - pages: 100-103.


Gordon, CT.  et al. 2017

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects. We report here that missense...
Nat. Genet. - issue: 2 - volume: 49 - pages: 249-255.


Gordon, CT.  et al. 2017

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects. We report here that missense...
Nat. Genet. - issue: 2 - volume: 49 - pages: 249-255.


Gesquière-Dando, A.  et al. 2017

Are electrophysiological features related to disability in patients with anti-MAG neuropathy?

OBJECTIVES: To explore clinical-neurophysiological correlations in anti-myelin-associated glycoprotein (anti-MAG) neuropathy. METHODS: Clinical and electrophysiological data of 42 patients with...
Neurophysiol Clin - issue: 1 - volume: 47 - pages: 75-81.


Gesquière-Dando, A.  et al. 2017

Are electrophysiological features related to disability in patients with anti-MAG neuropathy?

OBJECTIVES: To explore clinical-neurophysiological correlations in anti-myelin-associated glycoprotein (anti-MAG) neuropathy. METHODS: Clinical and electrophysiological data of 42 patients with...
Neurophysiol Clin - issue: 1 - volume: 47 - pages: 75-81.


Gordon, CT.  et al. 2017

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects. We report here that missense...
Nat. Genet. - issue: 2 - volume: 49 - pages: 249-255.


Suffee, N.  et al. 2017

Atrial natriuretic peptide regulates adipose tissue accumulation in adult atria

The abundance of epicardial adipose tissue (EAT) is associated with atrial fibrillation (AF), the most frequent cardiac arrhythmia. However, both the origin and the factors involved in EAT expansion...
Proc. Natl. Acad. Sci. U.S.A. - issue: 5 - volume: 114 - pages: E771-E780.


Suffee, N.  et al. 2017

Atrial natriuretic peptide regulates adipose tissue accumulation in adult atria

The abundance of epicardial adipose tissue (EAT) is associated with atrial fibrillation (AF), the most frequent cardiac arrhythmia. However, both the origin and the factors involved in EAT expansion...
Proc. Natl. Acad. Sci. U.S.A. - issue: 5 - volume: 114 - pages: E771-E780.


Tordjman, S.  et al. 2017

Reframing autism as a behavioral syndrome and not a specific mental disorder: Perspectives from a literature review

Clinical and molecular genetics have advanced current knowledge on genetic disorders associated with autism. A review of diverse genetic disorders associated with autism is presented and for the first...
Neurosci Biobehav Rev - issue: - volume: - pages: .