MMG PUBLICATIONS

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Results: 3220  publications found.

Gravez, B.  et al. 2013

Mineralocorticoid receptor and cardiac arrhythmia

Mineralocorticoid receptor (MR) activation has been shown to play a deleterious role in the development of heart disease in studies using specific MR antagonists (spironolactone, eplerenone) in both...
Clin. Exp. Pharmacol. Physiol. - issue: 12 - volume: 40 - pages: 910-915.

Callier, P.  et al. 2013

Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

The association of marfanoid habitus (MH) and intellectual disability (ID) has been reported in the literature, with overlapping presentations and genetic heterogeneity. A hundred patients (71 males...
Clin. Genet. - issue: 6 - volume: 84 - pages: 507-521.

Gravez, B.  et al. 2013

Mineralocorticoid receptor and cardiac arrhythmia

Mineralocorticoid receptor (MR) activation has been shown to play a deleterious role in the development of heart disease in studies using specific MR antagonists (spironolactone, eplerenone) in both...
Clin. Exp. Pharmacol. Physiol. - issue: 12 - volume: 40 - pages: 910-915.

Poulain, S.  et al. 2013

Genome wide SNP array identified multiple mechanisms of genetic changes in Waldenstrom macroglobulinemia

SNP array (SNPa) was developed to detect copy number alteration (CNA) and loss of heterozygosity (LOH) without copy number changes, CN-LOH. We aimed to identify novel genomic aberrations using SNPa in...
Am. J. Hematol. - issue: 11 - volume: 88 - pages: 948-954.

Tanyalcin, I.  et al. 2013

Elaborating the phenotypic spectrum associated with mutations in ARFGEF2: Case study and literature review

Background: The BIG2 protein, coded by ARFGEF2 indirectly assists neuronal proliferation and migration during cortical development. Mutations in ARFGEF2 have been reported as a rare cause of...
Eur. J. Paediatr. Neurol. - issue: 6 - volume: 17 - pages: 666-670.

Berg, JS.  et al. 2013

Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium

- issue: 11 - volume: 15 - pages: 860-867.

Ozcan, D.  et al. 2013

A Collodion Baby with Facial Dysmorphism, Limb Anomalies, Pachygyria and Genital Hypoplasia: A Mild Form of Neu-Laxova Syndrome or a New Entity?

Neu-Laxova syndrome is a rare, lethal, autosomal recessive disorder characterized by intrauterine growth retardation, central nervous system anomalies, skin findings, such as ichthyosis, edema,...
Ann. Dermatol. - issue: 4 - volume: 25 - pages: 483-488.

Tanyalçin, I.  et al. 2013

Elaborating the phenotypic spectrum associated with mutations in ARFGEF2: case study and literature review

BACKGROUND: The BIG2 protein, coded by ARFGEF2 indirectly assists neuronal proliferation and migration during cortical development. Mutations in ARFGEF2 have been reported as a rare cause of...
Eur. J. Paediatr. Neurol. - issue: 6 - volume: 17 - pages: 666-670.

Bladen, CL.  et al. 2013

The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia

Duchenne muscular dystrophy (DMD) is an X-linked genetic disease, caused by the absence of the dystrophin protein. Although many novel therapies are under development for DMD, there is currently no...
Hum. Mutat. - issue: 11 - volume: 34 - pages: 1449-1457.

Oddoux, S.  et al. 2013

Microtubules that form the stationary lattice of muscle fibers are dynamic and nucleated at Golgi elements

Skeletal muscle microtubules (MTs) form a nonclassic grid-like network, which has so far been documented in static images only. We have now observed and analyzed dynamics of GFP constructs of MT and...
J. Cell Biol. - issue: 2 - volume: 203 - pages: 205-213.

Broucqsault, N.  et al. 2013

Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy

Facio-scapulo-humeral dystrophy (FSHD) results from deletions in the subtelomeric macrosatellite D4Z4 array on the 4q35 region. Upregulation of the DUX4 retrogene from the last D4Z4 repeated unit is...
Hum. Mol. Genet. - issue: 20 - volume: 22 - pages: 4206-4214.

Broucqsault, N.  et al. 2013

Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy

Facio-scapulo-humeral dystrophy (FSHD) results from deletions in the subtelomeric macrosatellite D4Z4 array on the 4q35 region. Upregulation of the DUX4 retrogene from the last D4Z4 repeated unit is...
Hum. Mol. Genet. - issue: 20 - volume: 22 - pages: 4206-4214.

Broucqsault, N.  et al. 2013

Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy

Facio-scapulo-humeral dystrophy (FSHD) results from deletions in the subtelomeric macrosatellite D4Z4 array on the 4q35 region. Upregulation of the DUX4 retrogene from the last D4Z4 repeated unit is...
Hum. Mol. Genet. - issue: 20 - volume: 22 - pages: 4206-4214.

Broucqsault, N.  et al. 2013

Dysregulation of 4q35-and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy

Facio-scapulo-humeral dystrophy (FSHD) results from deletions in the subtelomeric macrosatellite D4Z4 array on the 4q35 region. Upregulation of the DUX4 retrogene from the last D4Z4 repeated unit is...
Hum. Mol. Genet. - issue: 20 - volume: 22 - pages: 4206-4214.

Broucqsault, N.  et al. 2013

Dysregulation of 4q35-and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy

Facio-scapulo-humeral dystrophy (FSHD) results from deletions in the subtelomeric macrosatellite D4Z4 array on the 4q35 region. Upregulation of the DUX4 retrogene from the last D4Z4 repeated unit is...
Hum. Mol. Genet. - issue: 20 - volume: 22 - pages: 4206-4214.

Broucqsault, N.  et al. 2013

Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy

Facio-scapulo-humeral dystrophy (FSHD) results from deletions in the subtelomeric macrosatellite D4Z4 array on the 4q35 region. Upregulation of the DUX4 retrogene from the last D4Z4 repeated unit is...
Hum. Mol. Genet. - issue: 20 - volume: 22 - pages: 4206-4214.

Broucqsault, N.  et al. 2013

Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy

Facio-scapulo-humeral dystrophy (FSHD) results from deletions in the subtelomeric macrosatellite D4Z4 array on the 4q35 region. Upregulation of the DUX4 retrogene from the last D4Z4 repeated unit is...
Hum. Mol. Genet. - issue: 20 - volume: 22 - pages: 4206-4214.

Robin, JD.  et al. 2013

Length dependent telomere looping affects long-distant gene expression (5 Mb) in FSHD

WOS:000324972500271
Neuromusc. Disord. - issue: 9-10 - volume: 23 - pages: 824-824.

Ferreboeuf, M.  et al. 2013

DUX 4 and DUX4 downstream target genes are expressed in fetal FSHD muscles

WOS:000324972500267
Neuromusc. Disord. - issue: 9-10 - volume: 23 - pages: 823-823.

Ramiandrasoa, C.  et al. 2013

Delayed diagnosis of Sheehan's syndrome in a developed country: a retrospective cohort study

BACKGROUND: Little is known about Sheehan's syndrome (SS), even though it is believed that its incidence is low. The aims of this study were to determine the clinical features and diagnostic delay of...
Eur. J. Endocrinol. - issue: 4 - volume: 169 - pages: 431-438.