PUBLICATIONS MMG

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Résultats : 1707  publications trouvées.

Albarel, F.  et al. 2018

Pre-surgical medical treatment, a major prognostic factor for long-term remission in acromegaly

PURPOSE: To determine whether pre-surgical medical treatment (PSMT) using long-acting Somatostatin analogues in acromegaly may improve long-term surgical outcome and to determine decision making...
Pituitary - issue: 6 - volume: 21 - pages: 615-623.


Frankel, D.  et al. 2018

Morphology quiz: Identification of the origin of metastatic cells in pleural effusion

Cytopathology - issue: 6 - volume: 29 - pages: 587-589.


Elahi, A.  et al. 2018

Bioconversion of hemicellulosic materials into ethanol by yeast, Pichia kudriavzevii 2-KLP1, isolated from industrial waste

In the present work, a yeast strain Pichia kudriavzevii was identified on the basis of 18S rDNA, showing maximum growth at 30°C and pH 7.0. Among all the complex polysaccharides used, wheat bran...
Rev. Argent. Microbiol. - issue: 4 - volume: 50 - pages: 417-425.


Amedro, P.  et al. 2018

Impact of a centre and home-based cardiac rehabilitation program on the quality of life of teenagers and young adults with congenital heart disease: The QUALI-REHAB study rationale, design and methods

- issue: - volume: - pages: .


Pujol, P.  et al. 2018

Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations

In oncology, the expanding use of multi-gene panels to explore familial cancer predisposition and tumor genome analysis has led to increased secondary findings discoveries (SFs) and has given rise to...
- issue: 12 - volume: 26 - pages: 1732-1742.


De Bono, C.  et al. 2018

T-box genes and retinoic acid signaling regulate the segregation of arterial and venous pole progenitor cells in the murine second heart field

The arterial and venous poles of the mammalian heart are hotspots of congenital heart defects (CHD) such as those observed in 22q11.2 deletion (or DiGeorge) and Holt–Oram syndromes. These regions of...
Hum Mol Genet - issue: 21 - volume: 27 - pages: 3747-3760.


Lescroart, F.  et al. 2018

Hox and Tale transcription factors in heart development and disease

Hox genes are highly conserved transcription factors with critical functions during development, in particular for patterning the antero-posterior axis of the embryo. Their action is very often...
Int J Dev Biol - issue: - volume: 62 - pages: 837-846.


Hubert, F.  et al. 2018

FGF10 Signaling in Heart Development, Homeostasis, Disease and Repair

Essential muscular organ that provides the whole body with oxygen and nutrients, the heart is the first organ to function during embryonic development. Cardiovascular diseases, including acquired and...
Front Genet - issue: - volume: 9 - pages: 599.


Hubert, F.  et al. 2018

FGF10 Signaling in Heart Development, Homeostasis, Disease and Repair

Essential muscular organ that provides the whole body with oxygen and nutrients, the heart is the first organ to function during embryonic development. Cardiovascular diseases, including acquired and...
- issue: - volume: 9 - pages: .


Brue, T.  et al. 2018

Diabetes in patients with acromegaly treated with pegvisomant: observations from acrostudy

PURPOSE: To explore the effects of pegvisomant (PEGV) on glucose metabolism in patients with acromegaly within ACROSTUDY, an international, observational, prospective safety surveillance study....
Endocrine - issue: - volume: - pages: .


Abbas, S.  et al. 2018

Breast cancer risk associated with BRCA1/2 variants in the Pakistani population

BACKGROUND: Majority of the BRCA1 and BRCA2 mutations are associated with the risk of sporadic and familial breast cancer. Since these genes are significant in DNA repair mechanisms, we focused...
Breast Cancer - issue: - volume: - pages: .


Mégarbané, A.  et al. 2018

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: - volume: - pages: .


Mégarbané, A.  et al. 2018

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: - volume: - pages: .


Perrin, A.  et al. 2018

[Towards an harmonization of diagnosis by NGS of neuromuscular diseases - Actions of the Molecular Genetics sub-group of FILNEMUS]

Med Sci (Paris) - issue: - volume: 34 Hors série n°2 - pages: 20-22.


Cuny, T.  et al. 2018

Role of the tumor microenvironment in digestive neuroendocrine tumors

Gastroenteropancreatic neuroendocrine tumors (GEP-NETs) represent a group of heterogeneous tumors whose incidence increased over the past few years. Around half of patients already present with...
Endocr. Relat. Cancer - issue: 11 - volume: 25 - pages: R519-R544.


Nair, P.  et al. 2018

Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases

- issue: 6 - volume: 6 - pages: 1041-1052.


De Bono, C.  et al. 2018

T-box genes and retinoic acid signaling regulate the segregation of arterial and venous pole progenitor cells in the murine second heart field

The arterial and venous poles of the mammalian heart are hotspots of congenital heart defects (CHD) such as those observed in 22q11.2 deletion (or DiGeorge) and Holt-Oram syndromes. These regions of...
- issue: 21 - volume: 27 - pages: 3747-3760.


Romanet, P.  et al. 2018

Using Digital Droplet Polymerase Chain Reaction to Detect the Mosaic GNAS Mutations in Whole Blood DNA or Circulating Cell-Free DNA in Fibrous Dysplasia and McCune-Albright Syndrome

The GNAS postzygotic mosaic activating mutations involved in fibrous dysplasia and Mc Cune Albright syndrome (FD/MAS) are not detectable in leukocytes by Sanger sequencing. Digital droplet PCR™...
- issue: - volume: - pages: .


Bacquet, J.  et al. 2018

Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation

PURPOSE: Inherited peripheral neuropathies (IPN) represent a large heterogenous group of hereditary diseases with more than 100 causative genes reported to date. In this context, targeted...
BMJ Open - issue: 10 - volume: 8 - pages: e021632.


Bacquet, J.  et al. 2018

Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation

PURPOSE: Inherited peripheral neuropathies (IPN) represent a large heterogenous group of hereditary diseases with more than 100 causative genes reported to date. In this context, targeted...
BMJ Open - issue: 10 - volume: 8 - pages: e021632.