MMG PUBLICATIONS

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Results: 4168  publications found.

Woudt, L.  et al. 2016

Toward an objective measure of functional disability in dysferlinopathy

INTRODUCTION: Understanding the natural history of dysferlinopathy is essential to design and quantify novel therapeutic protocols. Our aim in this study was to assess, clinically and functionally, a...
Muscle Nerve - issue: 1 - volume: 53 - pages: 49-57.


Béroud, C.  et al. 2016

BRCA Share: A Collection of Clinical BRCA Gene Variants

- issue: - volume: - pages: .


Béroud, C.  et al. 2016

BRCA Share: A Collection of Clinical BRCA Gene Variants

- issue: - volume: - pages: .


Choucair, N.  et al. 2015

Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability

BACKGROUND: The premature fusion of metopic sutures results in the clinical phenotype of trigonocephaly. An association of this characteristic with the monosomy 9p syndrome is well established and the...
Mol Cytogenet - issue: - volume: 8 - pages: 39.


Choucair, N.  et al. 2015

Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients

BACKGROUND: Chromosomal microarray analysis (CMA) is currently the most widely adopted clinical test for patients with unexplained intellectual disability (ID), developmental delay (DD), and...
Mol Cytogenet - issue: - volume: 8 - pages: 26.


Choucair, N.  et al. 2015

Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability.

BACKGROUND: The premature fusion of metopic sutures results in the clinical phenotype of trigonocephaly. An association of this characteristic with the monosomy 9p syndrome is well established and...
Mol Cytogenet - issue: - volume: 8 - pages: 39.


Choucair, N.  et al. 2015

Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients.

BACKGROUND: Chromosomal microarray analysis (CMA) is currently the most widely adopted clinical test for patients with unexplained intellectual disability (ID), developmental delay (DD), and...
Mol Cytogenet - issue: - volume: 8 - pages: 26.


Didier, G.  et al. 2015

Identifying communities from multiplex biological networks

Various biological networks can be constructed, each featuring gene/protein relationships of different meanings (e.g., protein interactions or gene co-expression). However, this diversity is...
PeerJ - issue: - volume: 3 - pages: e1525.


Mesnier, A.  et al. 2015

The Transcriptional Effects of PCB118 and PCB153 on the Liver, Adipose Tissue, Muscle and Colon of Mice: Highlighting of Glut4 and Lipin1 as Main Target Genes for PCB Induced Metabolic Disorders

Epidemiological studies have associated environmental exposure to polychlorinated biphenyls (PCBs) with an increased risk of type 2 diabetes; however, little is known about the underlying mechanisms...
PLoS ONE - issue: 6 - volume: 10 - pages: e0128847.


Beck-Broichsitter, M.  et al. 2015

Solvent selection causes remarkable shifts of the "Ouzo region" for poly(lactide-co-glycolide) nanoparticles prepared by nanoprecipitation

Polymer nanoparticles (NPs) offer versatile novel biological features of interest for drug delivery applications. "Ouzo diagrams" allowed for a systematic manufacture of specified colloidal...
Nanoscale - issue: 20 - volume: 7 - pages: 9215-9221.


Choucair, N.  et al. 2015

Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability

BACKGROUND: The premature fusion of metopic sutures results in the clinical phenotype of trigonocephaly. An association of this characteristic with the monosomy 9p syndrome is well established and the...
Mol Cytogenet - issue: - volume: 8 - pages: 39.


Choucair, N.  et al. 2015

Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability

BACKGROUND: The premature fusion of metopic sutures results in the clinical phenotype of trigonocephaly. An association of this characteristic with the monosomy 9p syndrome is well established and the...
Mol Cytogenet - issue: - volume: 8 - pages: 39.


Choucair, N.  et al. 2015

Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients

BACKGROUND: Chromosomal microarray analysis (CMA) is currently the most widely adopted clinical test for patients with unexplained intellectual disability (ID), developmental delay (DD), and...
Mol Cytogenet - issue: - volume: 8 - pages: 26.


Philippon, M.  et al. 2015

Successful pregnancies and healthy live births using frozen-thawed sperm retrieved by a new modified Hotchkiss procedure in males with retrograde ejaculation: first case series

BACKGROUND: In couples presenting with retrograde ejaculation refractory to medical treatment, the first choice of fertility treatment should be Assisted Reproductive Techniques using rapidly purified...
Basic Clin Androl - issue: - volume: 25 - pages: 5.


Choucair, N.  et al. 2015

Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients

BACKGROUND: Chromosomal microarray analysis (CMA) is currently the most widely adopted clinical test for patients with unexplained intellectual disability (ID), developmental delay (DD), and...
Mol Cytogenet - issue: - volume: 8 - pages: 26.


Rochette, C.  et al. 2015

Identifying the Deleterious Effect of Rare LHX4 Allelic Variants, a Challenging Issue

LHX4 is a LIM homeodomain transcription factor involved in the early steps of pituitary ontogenesis. To date, 8 heterozygous LHX4 mutations have been reported as responsible of combined pituitary...
PLoS ONE - issue: 5 - volume: 10 - pages: e0126648.


Jullien, N.  et al. 2015

Dose-dependent dual role of PIT-1 (POU1F1) in somatolactotroph cell proliferation and apoptosis

To test the role of wtPIT-1 (PITWT) or PIT-1 (R271W) (PIT271) in somatolactotroph cells, we established, using inducible lentiviral vectors, sublines of GH4C1 somatotroph cells that allow the blockade...
PLoS ONE - issue: 3 - volume: 10 - pages: e0120010.


Beck-Broichsitter, M.  et al. 2015

Solvent selection causes remarkable shifts of the "Ouzo region" for poly(lactide-co-glycolide) nanoparticles prepared by nanoprecipitation

Polymer nanoparticles (NPs) offer versatile novel biological features of interest for drug delivery applications. "Ouzo diagrams" allowed for a systematic manufacture of specified colloidal...
Nanoscale - issue: 20 - volume: 7 - pages: 9215-9221.


El Karak, F.  et al. 2015

Pseudo-Guillain-Barré syndrome masking acute myeloid leukemia relapse: Brief report and review

Central nervous system (CNS) relapse is not a rare presentation in acute myeloid leukemia (AML) as its incidence ranges between 2% and 9%. It manifests with meningeal leukemia, cranial nerve palsies...
Leuk Res Rep - issue: 2 - volume: 4 - pages: 42-44.


McDonald-McGinn, DM.  et al. 2015

22q11.2 deletion syndrome

22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic recombination events occurring in...
Nat Rev Dis Primers - issue: - volume: 1 - pages: 15071.