MMG PUBLICATIONS

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Results: 2253  publications found.

Vergier, J.  et al. 2019

Fertility preservation in Turner syndrome: Karyotype does not predict ovarian response to stimulation

Objective Turner syndrome (TS) is responsible for gonadal dysgenesis with high risk of premature ovarian insufficiency. Little is known about fertility preservation (FP) strategies is this population....
- issue: 5 - volume: 91 - pages: 646-651.


Mégarbané, A.  et al. 2019

A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22)

Joubert syndrome (JS) is an autosomal or X-linked recessive syndrome principally characterized by hypotonia, ataxia, cognitive impairment, and a specific finding on brain imaging called a "molar tooth...
Eur J Med Genet - issue: 11 - volume: 62 - pages: 103576.


Magdinier, F.  et al. 2019

[Marseille welcomes the FSHD Society International Research Conference].

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


Mezouar, S.  et al. 2019

Full-Term Human Placental Macrophages Eliminate Coxiella burnetii Through an IFN-gamma Autocrine Loop

- issue: - volume: 10 - pages: .


Mezouar, S.  et al. 2019

Full-Term Human Placental Macrophages Eliminate Coxiella burnetii Through an IFN-gamma Autocrine Loop

The intracellular bacterium Coxiella burnetii is responsible for Q fever, an infectious disease that increases the risk of abortion, preterm labor, and stillbirth in pregnant women. It has been shown...
- issue: - volume: 10 - pages: .


Nicolle, R.  et al. 2019

Integrated molecular characterization of chondrosarcoma reveals critical determinants of disease progression

- issue: - volume: 10 - pages: .


Nicolle, R.  et al. 2019

Integrated molecular characterization of chondrosarcoma reveals critical determinants of disease progression

Chondrosarcomas are primary cancers of cartilaginous tissue with highly contrasting prognoses. These tumors are defined by recurrent mutations in the IDH genes and other genetic alterations including...
- issue: - volume: 10 - pages: .


Takada, H.  et al. 2019

Identification of 2,6-Disubstituted 3H-Imidazo[4,5-b]pyridines as Therapeutic Agents for Dysferlinopathies through Phenotypic Screening on Patient-Derived Induced Pluripotent Stem Cells

Dysferlinopathies, which are muscular diseases caused by mutations in the dysferlin gene, remain serious medical problems due to the lack of therapeutic agents. Herein, we report the design,...
J. Med. Chem. - issue: - volume: - pages: .


Fortanier, E.  et al. 2019

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

- issue: - volume: 13 - pages: .


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.