MMG PUBLICATIONS

Use the tool below to browse our publications by keywords or/and by team or/and by year.

Follow then the link to consult a publication on PUBMED website.



Search publications





Results: 4196  publications found.

Carmignac, V.  et al. 2012

In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome

Shprintzen-Goldberg syndrome (SGS) is characterized by severe marfanoid habitus, intellectual disability, camptodactyly, typical facial dysmorphism, and craniosynostosis. Using family-based exome...
Am. J. Hum. Genet. - issue: 5 - volume: 91 - pages: 950-957.

Chouery, E.  et al. 2012

A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2

The immunodeficiency, centromeric instability and facial anomalies (ICF) syndrome is a rare autosomal recessive disease characterized by targeted chromosome breakage, directly related to a genomic...
Clin. Genet. - issue: 5 - volume: 82 - pages: 489-493.

Doubaj, Y.  et al. 2012

An inherited LMNA gene mutation in atypical Progeria syndrome

HutchinsonGilford Progeria syndrome (HGPS) is a rare genetic disorder, characterized by several clinical features that begin in early childhood, recalling an accelerated aging process. The diagnosis...
Am. J. Med. Genet. A - issue: 11 - volume: 158A - pages: 2881-2887.

Chouery, E.  et al. 2012

A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2

The immunodeficiency, centromeric instability and facial anomalies (ICF) syndrome is a rare autosomal recessive disease characterized by targeted chromosome breakage, directly related to a genomic...
Clin. Genet. - issue: 5 - volume: 82 - pages: 489-493.

Chouery, E.  et al. 2012

A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2

Chouery E, Abou-Ghoch J Corbani S, El Ali N, Korban R, Salem N, Castro C, Klayme S, Azoury-Abou Rjeily M, Khoury-Matar R, Debo G, Germanos-Haddad M, Delague V, Lefranc G, Megarbane A. A novel deletion...
Clin. Genet. - issue: 5 - volume: 82 - pages: 489-493.

Vroonen, L.  et al. 2012

Prolactinomas resistant to standard doses of cabergoline: a multicenter study of 92 patients

BACKGROUND: Dopamine agonist resistance in prolactinoma is an infrequent phenomenon. Doses of cabergoline (CAB) of up to 2.0 mg/week are usually effective in controlling prolactin (PRL) secretion and...
Eur. J. Endocrinol. - issue: 5 - volume: 167 - pages: 651-662.

Chouery, E.  et al. 2012

A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2

The immunodeficiency, centromeric instability and facial anomalies (ICF) syndrome is a rare autosomal recessive disease characterized by targeted chromosome breakage, directly related to a genomic...
Clin. Genet. - issue: 5 - volume: 82 - pages: 489-493.

Zhai, K.  et al. 2012

beta-Adrenergic cAMP Signals Are Predominantly Regulated by Phosphodiesterase Type 4 in Cultured Adult Rat Aortic Smooth Muscle Cells

Background: We investigated the role of cyclic nucleotide phosphodiesterases (PDEs) in the spatiotemporal control of intracellular cAMP concentrations in rat aortic smooth muscle cells (RASMCs)....
PLoS One - issue: 10 - volume: 7 - pages: e47826.

Budry, L.  et al. 2012

The selector gene Pax7 dictates alternate pituitary cell fates through its pioneer action on chromatin remodeling

The anterior and intermediate lobes of the pituitary gland derive from the surface ectoderm. They provide a simple system to assess mechanisms of developmental identity established by tissue...
Genes Dev. - issue: 20 - volume: 26 - pages: 2299-2310.

Bensimon-Brito A., .  et al. 2012

Distinct patterns of notochord mineralization in zebrafish coincide with the localization of Osteocalcin isoform 1 during early vertebral centra formation

Background: In chondrichthyans, basal osteichthyans and tetrapods, vertebral bodies have cartilaginous anlagen that subsequently mineralize (chondrichthyans) or ossify (osteichthyans). Chondrocytes...
BMC Dev Biol - issue: 12:28 - volume: - pages: .

Laibe, S.  et al. 2012

A Seven-Gene Signature Aggregates a Subgroup of Stage II Colon Cancers with Stage III

Colorectal cancer is one of the most common cancers in the world. Histological staging is efficient, but combination with molecular markers may improve tumor classification. Gene expression profiles...
OMICS - issue: 10 - volume: 16 - pages: 560-565.

Fahiminiya, S.  et al. 2012

Improvement of 2D-PAGE Resolution of Human, Porcine and Canine Follicular Fluid: Comparison of Two Immunodepletion Columns

Contents Follicular fluid provides the microenvironment within which somatic cells proliferate and differentiate, and the oocyte matures. It contains a number of soluble factors implicated in various...
Reprod. Domest. Anim. - issue: 5 - volume: 47 - pages: e67-e70.

De Sandre-Giovannoli, A.  et al. 2012

Antisense based therapeutic approaches in Hutchinson-Gilford Progeria

WOS:000310364400085
Hum. Gene Ther. - issue: 10 - volume: 23 - pages: A27-A27.

Langrand, C.  et al. 2012

Hypothalamo-pituitary sarcoidosis: a multicenter study of 24 patients

AIM: To assess clinical features, treatment and outcome of Hypothalamo-pituitary (HP) sarcoidosis and to determine whether HP is associated with a particular clinical phenotype of sarcoidosis. DESIGN:...
QJM - issue: 10 - volume: 105 - pages: 981-995.

Krom, YD.  et al. 2012

Generation of isogenic D4Z4 contracted and noncontracted immortal muscle cell clones from a mosaic patient: a cellular model for FSHD

In most cases facioscapulohumeral muscular dystrophy (FSHD) is caused by contraction of the D4Z4 repeat in the 4q subtelomere. This contraction is associated with local chromatin decondensation and...
Am. J. Pathol. - issue: 4 - volume: 181 - pages: 1387-1401.

Bachelot, A.  et al. 2012

Influence of hormonal control on LH pulsatility and secretion in women with classical congenital adrenal hyperplasia

OBJECTIVE: Women with classical congenital adrenal hyperplasia (CAH) exhibit reduced fertility due to several factors including anovulation. This has been attributed to a disturbed gonadotropic axis...
Eur. J. Endocrinol. - issue: 4 - volume: 167 - pages: 499-505.

Berteau, J.  et al. 2012

Computed tomography, histological and ultrasonic measurements of adolescent scoliotic rib hump geometrical and material properties

In Adolescent Idiopathic Scoliosis (AIS), numerical models can enhance orthopaedic or surgical treatments and provide reliable insights into the mechanism of progression. Computational methods require...
J Biomech - issue: 14 - volume: 45 - pages: 2467-2471.

Berteau, J.  et al. 2012

Computed tomography, histological and ultrasonic measurements of adolescent scoliotic rib hump geometrical and material properties

In Adolescent Idiopathic Scoliosis (AIS), numerical models can enhance orthopaedic or surgical treatments and provide reliable insights into the mechanism of progression. Computational methods require...
J Biomech - issue: 14 - volume: 45 - pages: 2467-2471.

Faure, E.  et al. 2012

P2Y2 receptor inhibits EGF-induced MAPK pathway to stabilise keratinocyte hemidesmosomes

alpha 6 beta 4 integrin is the main component of hemidesmosomes (HD) that stably anchor the epithelium to the underlying basement membrane. Epithelial cell migration requires HD remodelling, which can...
J. Cell Sci. - issue: 18 - volume: 125 - pages: 4264-4277.

Krupp, DR.  et al. 2012

Transcriptome profiling of genes involved in neural tube closure during human embryonic development using long serial analysis of gene expression (long-SAGE)

BACKGROUND: Neural tube defects (NTDs) are common human birth defects with a complex etiology. To develop a comprehensive knowledge of the genes expressed during normal neurulation, we established...
Birth Defects Res. Part A Clin. Mol. Teratol. - issue: 9 - volume: 94 - pages: 683-692.