PUBLICATIONS MMG

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Résultats : 1693  publications trouvées.

Shahid, SU.  et al. 2018

GWAS implicated risk variants in different genes contribute additively to increase the risk of coronary artery disease (CAD) in the Pakistani subjects

BACKGROUND: Coronary artery disease (CAD) remains the single most important cause of mortality worldwide. Many candidate and GWAS genetic variants have been identified in the recent years. In the...
Lipids Health Dis - issue: 1 - volume: 17 - pages: 89.


Broncy, L.  et al. 2018

Single-cell genetic analysis validates cytopathological identification of circulating cancer cells in patients with clear cell renal cell carcinoma

Context: Circulating Rare Cells (CRC) are non-haematological cells circulating in blood. They include Circulating Cancer Cells (CCC) and cells with uncertain malignant features (CRC-UMF) according to...
Oncotarget - issue: 28 - volume: 9 - pages: 20058-20074.


Harhouri, K.  et al. 2018

An overview of treatment strategies for Hutchinson-Gilford Progeria Syndrome

- issue: 1 - volume: 9 - pages: 265-276.


Giraud, A.  et al. 2018

Between “pragmatic” interpretation and “disturbing” understanding: Embryonic cryopreservation for IVF patients

- issue: 4 - volume: 46 - pages: 395 - 402.


Valassi, E.  et al. 2018

Preoperative medical treatment in Cushing's syndrome: frequency of use and its impact on postoperative assessment: data from ERCUSYN

Background: Surgery is the definitive treatment of Cushing's syndrome (CS) but medications may also be used as a first-line therapy. Whether preoperative medical treatment (PMT) affects postoperative...
- issue: 4 - volume: 178 - pages: 399-409.


Métais, A.  et al. 2018

Asb2α-Filamin A Axis Is Essential for Actin Cytoskeleton Remodeling During Heart Development

RATIONALE: Heart development involves differentiation of cardiac progenitors and assembly of the contractile sarcomere apparatus of cardiomyocytes. However, little is known about the mechanisms that...
Circ. Res. - issue: 6 - volume: 122 - pages: e34-e48.


Métais, A.  et al. 2018

Asb2α-Filamin A Axis Is Essential for Actin Cytoskeleton Remodeling During Heart Development

RATIONALE: Heart development involves differentiation of cardiac progenitors and assembly of the contractile sarcomere apparatus of cardiomyocytes. However, little is known about the mechanisms that...
Circ Res. - issue: 6 - volume: 122 - pages: e34-e48.


Thomas, A.  et al. 2018

Widespread dynamic and pleiotropic expression of the melanocortin-1-receptor (MC1R) system is conserved across chick, mouse and human embryonic development

BACKGROUND: MC1R, a G-protein coupled receptor with high affinity for alpha-melanocyte stimulating hormone (αMSH), modulates pigment production in melanocytes from many species and is associated with...
Birth Defects Res - issue: 5 - volume: 110 - pages: 443-455.


Prados, B.  et al. 2018

Myocardial Bmp2 gain causes ectopic EMT and promotes cardiomyocyte proliferation and immaturity

During mammalian heart development, restricted myocardial Bmp2 expression is a key patterning signal for atrioventricular canal specification and the epithelial-mesenchyme transition that gives rise...
Cell Death Dis - issue: 3 - volume: 9 - pages: 399.


Esteve, C.  et al. 2018

Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility

Despite the rapid discovery of genes for rare genetic disorders, we continue to encounter individuals presenting with syndromic manifestations. Here, we have studied four affected people in three...
Am. J. Hum. Genet. - issue: 3 - volume: 102 - pages: 364-374.


Roubertoux, PL.  et al. 2018

Measuring Preweaning Sensorial and Motor Development in the Mouse

The immaturity at birth and the slowness of ontogenic processes in mice provide the opportunity to measure rates of development. We describe here 18 measures covering the sensorial and motor onset...
Curr Protoc Mouse Biol - issue: 1 - volume: 8 - pages: 54-78.


Fabre, A.  et al. 2018

A new mutation in the C-terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho-hepato-enteric syndrome in seven patients from two families

Syndromic diarrhea/tricho-hepato-enteric syndrome (SD/THE) is a rare congenital enteropathy with seven main clinical features: intractable diarrhea of infancy, hair abnormalities, intrauterine growth...
Am. J. Med. Genet. A - issue: 3 - volume: 176 - pages: 727-732.


Thomas, AC.  et al. 2018

Widespread dynamic and pleiotropic expression of the melanocortin-1-receptor (MC1R) system is conserved across chick, mouse and human embryonic development

BackgroundMC1R, a G-protein coupled receptor with high affinity for alpha-melanocyte stimulating hormone (MSH), modulates pigment production in melanocytes from many species and is associated with...
- issue: 5 - volume: 110 - pages: 443-455.


Fabre, A.  et al. 2018

A new mutation in the C-terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho-hepato-enteric syndrome in seven patients from two families

Syndromic diarrhea/tricho-hepato-enteric syndrome (SD/THE) is a rare congenital enteropathy with seven main clinical features: intractable diarrhea of infancy, hair abnormalities, intrauterine growth...
- issue: 3 - volume: 176 - pages: 727 - 732.


Prados, B.  et al. 2018

Myocardial Bmp2 gain causes ectopic EMT and promotes cardiomyocyte proliferation and immaturity

During mammalian heart development, restricted myocardial Bmp2 expression is a key patterning signal for atrioventricular canal specification and the epithelial-mesenchyme transition that gives rise...
- issue: 3 - volume: 9 - pages: .


Esteve, C.  et al. 2018

Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility

Despite the rapid discovery of genes for rare genetic disorders, we continue to encounter individuals presenting with syndromic manifestations. Here, we have studied four affected people in three...
- issue: 3 - volume: 102 - pages: 364 - 374.


Metais, A.  et al. 2018

Asb2 alpha-Filamin A Axis Is Essential for Actin Cytoskeleton Remodeling During Heart Development

Rationale: Heart development involves differentiation of cardiac progenitors and assembly of the contractile sarcomere apparatus of cardiomyocytes. However, little is known about the mechanisms that...
- issue: 6 - volume: 122 - pages: E34+.


Esteve, C.  et al. 2018

Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility

Despite the rapid discovery of genes for rare genetic disorders, we continue to encounter individuals presenting with syndromic manifestations. Here, we have studied four affected people in three...
Am. J. Hum. Genet. - issue: 3 - volume: 102 - pages: 364-374.


Levy, N.  et al. 2018

"Pain as the fifth vital sign" and dependence on the "numerical pain scale" is being abandoned in the US: Why?

Br. J. Anaesth. - issue: 3 - volume: 120 - pages: 435-438.


Barthelemy, F.  et al. 2018

Muscle Cells Fix Breaches by Orchestrating a Membrane Repair Ballet

Skeletal muscle undergoes many micro-membrane lesions at physiological state. Based on their sizes and magnitude these lesions are repaired via different complexes on a specific spatio-temporal...
- issue: 1 - volume: 5 - pages: 21 - 28.