MMG PUBLICATIONS

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Results: 2262  publications found.

Fortanier, E.  et al. 2019

Structural Connectivity Alterations in Amyotrophic Lateral Sclerosis: A Graph Theory Based Imaging Study

Background: Amyotrophic lateral sclerosis (ALS) is a relentlessly progressive neurodegenerative disorder. Diffusion magnetic resonance imagining (MRI) studies have consistently showed widespread...
- issue: - volume: 13 - pages: .


Kinoshita, J.  et al. 2019

26th Annual Facioscapulohumeral Dystrophy International Research Congress Marseille, France, 19-20 June 2019

Neuromuscul. Disord. - issue: 10 - volume: 29 - pages: 811-817.


Grelet, M.  et al. 2019

SATB2-associated syndrome: first report of a gonadal and somatic mosaicism for an intragenic copy number variation

- issue: 4 - volume: 28 - pages: 205-210.


Suffee-Mosbah, N.  et al. 2019

A subpopulation of epicardium-derived cells are preprogrammed towards fibroblast differentiation in the atrial myocardium

- issue: 1 - volume: 40 - pages: 688.


Kinoshita, J.  et al. 2019

26th Annual Facioscapulohumeral Dystrophy International Research Congress Marseille, France, 19-20 June 2019

- issue: 10 - volume: 29 - pages: 811-817.


Bordet, C.  et al. 2019

Psycho-social impact of predictive genetic testing in hereditary heart diseases (PREDICT Study)

- issue: 2 - volume: 27 - pages: 1317-1318.


Abaji, M.  et al. 2019

A homozygous loss-of-function variant in the TRAPPC2L gene causes a neurodevelopmental disorder overlapping TRAPPC9-related disorder

- issue: 2 - volume: 27 - pages: 1407.


Racine, C.  et al. 2019

Further delineation of O2HE syndrome due to UNC45A biallelic variants and launching of the initiative adopt a gene for UNC45A

- issue: 2 - volume: 27 - pages: 1529-1530.


Wang, Q.  et al. 2019

Characterization of heterozygous PMS2 variants in French patients with Lynch syndrome

- issue: 2 - volume: 27 - pages: 1595.


Gorokhova, S.  et al. 2019

A new tool CovReport generates easy-to-understand sequencing coverage summary for diagnostic reports

- issue: 2 - volume: 27 - pages: 1661.


Cuny, T.  et al. 2019

Acromegaly in Carney complex

- issue: 5 - volume: 22 - pages: 456-466.


Mejean, C.  et al. 2019

Chronic hepatitis associated with antiribosomal-P autoantibodies in a 14-year-old girl

- issue: 10 - volume: 7 - pages: 2008-2010.


Kinoshita, J.  et al. 2019

26th Annual Facioscapulohumeral Dystrophy International Research Congress Marseille, France, 19-20 June 2019

- issue: 10 - volume: 29 - pages: 811-817.


Bordet, C.  et al. 2019

Psycho-social impact of predictive genetic testing in hereditary heart diseases (PREDICT Study)

- issue: 2 - volume: 27 - pages: 1317-1318.


Abaji, M.  et al. 2019

A homozygous loss-of-function variant in the TRAPPC2L gene causes a neurodevelopmental disorder overlapping TRAPPC9-related disorder

- issue: 2 - volume: 27 - pages: 1407.


Racine, C.  et al. 2019

Further delineation of O2HE syndrome due to UNC45A biallelic variants and launching of the initiative adopt a gene for UNC45A

- issue: 2 - volume: 27 - pages: 1529-1530.


Wang, Q.  et al. 2019

Characterization of heterozygous PMS2 variants in French patients with Lynch syndrome

- issue: 2 - volume: 27 - pages: 1595.


Gorokhova, S.  et al. 2019

A new tool CovReport generates easy-to-understand sequencing coverage summary for diagnostic reports

- issue: 2 - volume: 27 - pages: 1661.


Cuny, T.  et al. 2019

Acromegaly in Carney complex

Purpose Carney complex (CNC) is a rare autosomal dominant syndrome, characterized by mucocutaneous pigmentation, cardiac, cutaneous myxomas and endocrine overactivity. It is generally caused by...
- issue: 5 - volume: 22 - pages: 456-466.


Mejean, C.  et al. 2019

Chronic hepatitis associated with antiribosomal-P autoantibodies in a 14-year-old girl

We reported the first pediatric case of auto-immune hepatitis with positive anti-P antibodies. On the basis of our findings, adding auto anti-P screening in pediatric seronegative HAI may be...
- issue: 10 - volume: 7 - pages: 2008-2010.