MMG PUBLICATIONS

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Results: 1691  publications found.

Lo Cicero, A.  et al. 2018

Pathological modelling of pigmentation disorders associated with Hutchinson-Gilford Progeria Syndrome (HGPS) revealed an impaired melanogenesis pathway in iPS-derived melanocytes

Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare genetic disorder that leads to premature aging. In this study, we used induced pluripotent stem cells to investigate the hypopigmentation...
Sci Rep - issue: 1 - volume: 8 - pages: 9112.


Tazi-Mezalek, R.  et al. 2018

Chest ultrasonography to assess the kinetics and efficacy of talc pleurodesis in a model of pneumothorax: an experimental animal study

Talc pleurodesis is used to avoid recurrences in malignant pleural effusions or pneumothorax. The lack of lung sliding detected by chest ultrasonography (CUS) after talc application is indicative of...
- issue: 2 - volume: 4 - pages: 00158-2017.


Odelin, G.  et al. 2018

Krox20 defines a subpopulation of cardiac neural crest cells contributing to arterial valves and bicuspid aortic valve

Although cardiac neural crest cells are required at early stages of arterial valve development, their contribution during valvular leaflet maturation remains poorly understood. Here, we show in mouse...
Development - issue: 1 - volume: 145 - pages: pii: dev151944.


Amedro, P.  et al. 2018

Cardiopulmonary fitness in children with congenital heart diseases versus healthy children.

ClinicalTrials.gov NCT01202916;Post-results.
- issue: - volume: - pages: 1026-1036.


Bourgeois, P.  et al. 2018

Tricho-Hepato-Enteric Syndromemutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects

Tricho-Hepato-Enteric syndrome (THES) is a very rare autosomal recessive syndromic enteropathy caused by mutations of either TTC37 or SKIV2L genes. Very little is known of these two gene products in...
- issue: 6 - volume: 39 - pages: 774-789.


Tordjman, S.  et al. 2018

Repint of ``Reframing autism as a behavioral syndrome and not a specific mental disorder: Implications of genetic and phenotypic heterogeneity''

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...
- issue: - volume: 89 - pages: 132-150.


Paladino, NC.  et al. 2018

Characterization of adrenocortical tumors by F-18-FDG PET/CT: Does steroid hormone hypersecretion status modify the uptake pattern?

Background: adrenal tumor-to-liver uptake value (Tmx:Lmx) on F-18-FDG PET/CT is an accurate and reproducible PET parameter in the distinction between benign and malignant adrenal masses. The potential...
- issue: 2 - volume: 27 - pages: 231-235.


Brue, T.  et al. 2018

Management of Cushing's syndrome during pregnancy: solved and unsolved questions

With fewer than 200 reported cases, Cushing's syndrome (CS) in pregnancy remains a diagnostic and therapeutic challenge. In normal pregnancies, misleading signs may be observed such as striae or...
- issue: 6 - volume: 178 - pages: R259-R266.


Bourgeois, P.  et al. 2018

Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects

Tricho-Hepato-Enteric syndrome (THES) is a very rare autosomal recessive syndromic enteropathy caused by mutations of either TTC37 or SKIV2L genes. Very little is known of these two gene products in...
Hum. Mutat. - issue: 6 - volume: 39 - pages: 774-789.


Papoutsi, T.  et al. 2018

Bmp2 and Notch cooperate to pattern the embryonic endocardium

Signaling interactions between myocardium and endocardium pattern embryonic cardiac regions, instructing their development to fulfill specific functions in the mature heart. We show that ectopic Bmp2...
Development - issue: 13 - volume: 145 - pages: pii: dev163378..


Amouroux, M.  et al. 2018

Are men ready to use thermal male contraception? Acceptability in two French populations: New fathers and new providers

BACKGROUND:Since the 1970s, international research has actively pursued hormonal male contraception (HMC) and, to a lesser extent, thermal male contraception (TMC). Although the efficacy of TMC has...
- issue: 5 - volume: 13 - pages: e0195824.


Macagno, N.  et al. 2018

Reduced H3K27me3 Expression is Common in Nodular Melanomas of Childhood Associated With Congenital Melanocytic Nevi But Not in Proliferative Nodules

Am J Surg Pathol - issue: 5 - volume: 42 - pages: 701-704.


Bahougne, T.  et al. 2018

Functioning Mediastinal Paraganglioma Associated with a Germline Mutation of von Hippel-Lindau Gene

We report the case of a 21-year old woman presenting with high blood pressure and raised normetanephrine levels. Indium-111-pentetreotide single photon-emission computed tomography with computed...
J Clin Med - issue: 6 - volume: 7 - pages: .


Caulier, A.  et al. 2018

Primary red cell hydration disorders: Pathogenesis and diagnosis

Hydration status is critical for erythrocyte survival and is mainly determined by intracellular cation content. Active pumps, passive transporters, and ion channels are the key components of volume...
Int J Lab Hematol - issue: - volume: 40 Suppl 1 - pages: 68-73.


Etchevers, HC.  et al. 2018

Giant congenital melanocytic nevus with vascular malformation and epidermal cysts associated with a somatic activating mutation in BRAF

Giant congenital melanocytic nevi may be symptomatically isolated or syndromic. Associations with capillary malformations are exceptional, and development of epidermal cysts has not been described. A...
Pigment Cell Melanoma Res - issue: 3 - volume: 31 - pages: 437-441.


Frankel, D.  et al. 2018

MicroRNAs in hereditary and sporadic premature aging syndromes and other laminopathies

Hereditary and sporadic laminopathies are caused by mutations in genes encoding lamins, their partners, or the metalloprotease ZMPSTE24/FACE1. Depending on the clinical phenotype, they are classified...
Aging Cell - issue: - volume: - pages: e12766.


Frankel, D.  et al. 2018

MicroRNAs in hereditary and sporadic premature aging syndromes and other laminopathies

Hereditary and sporadic laminopathies are caused by mutations in genes encoding lamins, their partners, or the metalloprotease ZMPSTE24/FACE1. Depending on the clinical phenotype, they are classified...
Aging Cell - issue: - volume: - pages: e12766.


Frankel, D.  et al. 2018

Detection of EGFR, KRAS and BRAF mutations in metastatic cells from cerebrospinal fluid

- issue: 5 - volume: 56 - pages: 748 - 753.


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.