MMG PUBLICATIONS

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Results: 4168  publications found.

De Paula, AM.  et al. 2012

Further Heterogeneity in Myopathy with Tubular Aggregates?

WOS:000311615100035
Muscle Nerve - issue: 6 - volume: 46 - pages: 984-985.

De Paula, AM.  et al. 2012

Further Heterogeneity in Myopathy with Tubular Aggregates?

Muscle Nerve - issue: 6 - volume: 46 - pages: 984-985.

Attarian, S.  et al. 2012

Recommendations for the management of facioscapulohumeral muscular dystrophy in 2011

Facioscapulohumeral muscular dystrophy (FSHD) is a neuromuscular disease, characterized by an autosomal dominant mode of inheritance, facial involvement, and selectivity and asymmetry of muscle...
Rev. Neurol. - issue: 12 - volume: 168 - pages: 910-918.

De Paula, AM.  et al. 2012

Further heterogeneity in myopathy with tubular aggregates?

Muscle Nerve - issue: 6 - volume: 46 - pages: 984-985.

De Paula, AM.  et al. 2012

Further Heterogeneity in Myopathy with Tubular Aggregates?

Muscle Nerve - issue: 6 - volume: 46 - pages: 984-985.

Kannan, MA.  et al. 2012

Distal myopathy with rimmed vacuoles and inflammation: a genetically proven case

Distal myopathy with rimmed vacuoles (DMRV) is a major entity of distal myopathy. It is an autosomal recessive disorder and is due to mutations in the GNE gene that regulates the synthesis of sialic...
Neurol India - issue: 6 - volume: 60 - pages: 631-634.

Attarian, S.  et al. 2012

Recommendations for the management of facioscapulohumeral muscular dystrophy in 2011

Facioscapulohumeral muscular dystrophy (FSHD) is a neuromuscular disease, characterized by an autosomal dominant mode of inheritance, facial involvement, and selectivity and asymmetry of muscle...
Rev. Neurol. - issue: 12 - volume: 168 - pages: 910-918.

Herbaux, C.  et al. 2012

B-Cell-Specific Transcription Factor BACH2 Involved in the Clinical Behavior Heterogeneity of Waldenstrom Macroglobulinemia

WOS:000313838902278
Blood - issue: 21 - volume: 120 - pages: .

Gonzalez-Rodriguez, D.  et al. 2012

Soft matter models of developing tissues and tumors

Analogies with inert soft condensed matter--such as viscoelastic liquids, pastes, foams, emulsions, colloids, and polymers--can be used to investigate the mechanical response of soft biological...
Science - issue: 6109 - volume: 338 - pages: 910-917.

Gonzalez-Rodriguez, D.  et al. 2012

Soft matter models of developing tissues and tumors

Analogies with inert soft condensed matter--such as viscoelastic liquids, pastes, foams, emulsions, colloids, and polymers--can be used to investigate the mechanical response of soft biological...
Science - issue: 6109 - volume: 338 - pages: 910-917.

Watanabe, Y.  et al. 2012

Fibroblast growth factor 10 gene regulation in the second heart field by Tbx1, Nkx2-5, and Islet1 reveals a genetic switch for down-regulation in the myocardium

During cardiogenesis, Fibroblast Growth Factor (Fgf10) is expressed in the anterior second heart field. Together with Fibroblast growth factor 8 (Fgf8), Fgf10 promotes the proliferation of these...
Proc. Natl. Acad. Sci. U. S. A. - issue: 45 - volume: 109 - pages: 18273-18280.

Watanabe, Y.  et al. 2012

Fibroblast growth factor 10 gene regulation in the second heart field by Tbx1, Nkx2-5, and Islet1 reveals a genetic switch for down-regulation in the myocardium

During cardiogenesis, Fibroblast Growth Factor (Fgf10) is expressed in the anterior second heart field. Together with Fibroblast growth factor 8 (Fgf8), Fgf10 promotes the proliferation of these...
Proc. Natl. Acad. Sci. U.S.A. - issue: 45 - volume: 109 - pages: 18273-18280.

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.