MMG PUBLICATIONS

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Results: 2253  publications found.

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.


Laquiere, AE.  et al. 2019

Genomic profile concordance between pancreatic cyst fluid and neoplastic tissue

- issue: 36 - volume: 25 - pages: 5530-5542.


Laquiere, AE.  et al. 2019

Genomic profile concordance between pancreatic cyst fluid and neoplastic tissue

BACKGROUND DNA mutational analysis of pancreatic cystic fluid (CF) is a useful adjunct to the evaluation of pancreatic cysts. KRAS/GNAS or RAF/PTPRD/CTNNB1/RNF43 mutations are highly specific to...
- issue: 36 - volume: 25 - pages: 5530-5542.


Martin, G.  et al. 2019

Mosaicism of XX and XXY cells accounts for high copy number of Toll like Receptor 7 and 8 genes in peripheral blood of men with Rheumatoid Arthritis

- issue: - volume: 9 - pages: .


Martin, G.  et al. 2019

Mosaicism of XX and XXY cells accounts for high copy number of Toll like Receptor 7 and 8 genes in peripheral blood of men with Rheumatoid Arthritis

The X chromosome, hemizygous in males, contains numerous genes important to immunological and hormonal function. Alterations in X-linked gene dosage are suspected to contribute to female predominance...
- issue: - volume: 9 - pages: .


The DREAM Module Identification Challenge Consortium, .  et al. 2019

Assessment of network module identification across complex diseases

Many bioinformatics methods have been proposed for reducing the complexity of large gene or protein networks into relevant subnetworks or modules. Yet, how such methods compare to each other in terms...
Nature Methods - issue: 9 - volume: 16 - pages: 843-852.


Nguyen, K.  et al. 2019

Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy

BACKGROUND: Subtelomeres are variable regions between telomeres and chromosomal-specific regions. One of the most studied pathologies linked to subtelomeric imbalance is facioscapulohumeral dystrophy...
J. Med. Genet. - issue: 9 - volume: 56 - pages: 590-601.


Moulin, J.  et al. 2019

Hospital-based home care for young children newly diagnosed with type 1 diabetes: Assessing expectations and obstacles in families and general practitioners

- issue: 6 - volume: 26 - pages: 324-329.


Werner, O.  et al. 2019

Parental anxiety before invasive cardiac procedure in children with congenital heart disease: Contributing factors and consequences

- issue: 5 - volume: 14 - pages: 778-784.


Uboldi, C.  et al. 2019

In Vitro Analysis of the Effects of ITER-Like Tungsten Nanoparticles: Cytotoxicity and Epigenotoxicity in BEAS-2B Cells

- issue: 9 - volume: 9 - pages: .


Albarel, F.  et al. 2019

Immune check point inhibitors-induced hypophysitis

- issue: 3 - volume: 181 - pages: R107-R118.


Cavodeassi, F.  et al. 2019

The hedgehog pathway and ocular developmental anomalies

- issue: 8-9, SI - volume: 138 - pages: 917-936.