MMG PUBLICATIONS

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Results: 1693  publications found.

Lostal, W.  et al. 2012

Lack of Correlation between Outcomes of Membrane Repair Assay and Correction of Dystrophic Changes in Experimental Therapeutic Strategy in Dysferlinopathy

Mutations in the dysferlin gene are the cause of Limb-girdle Muscular Dystrophy type 2B and Miyoshi Myopathy. The dysferlin protein has been implicated in sarcolemmal resealing, leading to the idea...
PLoS One - issue: 5 - volume: 7 - pages: e38036.


Bun, S.  et al. 2012

Value of In Vivo T2 Measurement for Myocardial Fibrosis Assessment in Diabetic Mice at 11.75 T

Objective: The aim of the study was to assess the value of in vivo T2 measurements to noninvasively quantify myocardial fibrosis in diabetic mice at 11.75 T. Diabetic cardiomyopathy is characterized...
Invest. Radiol. - issue: 5 - volume: 47 - pages: 319-323.


Levy, N.  et al. 2012

Development of synergies and partnerships on rare diseases: Model of a scientific cooperation foundation

WOS:000305168100008
Presse Med. - issue: - volume: 41 - pages: S23-S25.


Ayme, S.  et al. 2012

Conclusions of RARE 2011 and prospects for RARE 2013

WOS:000305168100023
Presse Med. - issue: - volume: 41 - pages: S65-S66.


Bun, S.  et al. 2012

Value of in vivo T2 measurement for myocardial fibrosis assessment in diabetic mice at 11.75 T

OBJECTIVE: The aim of the study was to assess the value of in vivo T2 measurements to noninvasively quantify myocardial fibrosis in diabetic mice at 11.75 T. Diabetic cardiomyopathy is characterized...
Invest Radiol - issue: 5 - volume: 47 - pages: 319-323.


Bringoux, L.  et al. 2012

Effect of gravity-like torque on goal-directed arm movements in microgravity

Gravitational force level is well-known to influence arm motor control. Specifically, hyper- or microgravity environments drastically change pointing accuracy and kinematics, particularly during...
J. Neurophysiol. - issue: 9 - volume: 107 - pages: 2541-2548.


Mégarbané, A.  et al. 2012

Marfanoid habitus, inguinal hernia, advanced bone age, and distinctive facial features: a new collagenopathy?

We report on two sibs, a girl, and a boy, with tall stature, long, and triangular faces, prominent foreheads with high frontal hairlines, telecanthus, downward slanting of the palpebral fissures,...
Am. J. Med. Genet. A - issue: 5 - volume: 158A - pages: 1185-1189.


Marion, V.  et al. 2012

Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet-Biedl syndrome with situs inversus and insertional polydactyly

Background Bardet-Biedl Syndrome (BBS) is an emblematic recessive genetically highly heterogeneous ciliopathy characterised mainly by polydactyly, retinitis pigmentosa, obesity, cognitive impairment,...
J. Med. Genet. - issue: 5 - volume: 49 - pages: 317-321.


Marion, V.  et al. 2012

Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly

BACKGROUND: Bardet--Biedl Syndrome (BBS) is an emblematic recessive genetically highly heterogeneous ciliopathy characterised mainly by polydactyly, retinitis pigmentosa, obesity, cognitive...
J. Med. Genet. - issue: 5 - volume: 49 - pages: 317-321.


Marion, V.  et al. 2012

Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet-Biedl syndrome with situs inversus and insertional polydactyly

Background Bardet-Biedl Syndrome (BBS) is an emblematic recessive genetically highly heterogeneous ciliopathy characterised mainly by polydactyly, retinitis pigmentosa, obesity, cognitive impairment,...
J. Med. Genet. - issue: 5 - volume: 49 - pages: 317-321.


Galati, A.  et al. 2012

TRF2 Controls Telomeric Nucleosome Organization in a Cell Cycle Phase-Dependent Manner

Mammalian telomeres stabilize chromosome ends as a result of their assembly into a peculiar form of chromatin comprising a complex of non-histone proteins named shelterin. TRF2, one of the shelterin...
PLoS One - issue: 4 - volume: 7 - pages: e34386.


Taylor, J.  et al. 2012

Cardiovascular Research Funding: European Molecular Biology Organization Awards

WOS:000302793300008
Circulation - issue: 14 - volume: 125 - pages: F79-F83.


Fabre, A.  et al. 2012

SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome

Syndromic diarrhea (or trichohepatoenteric syndrome) is a rare congenital bowel disorder characterized by intractable diarrhea and woolly hair, and it has recently been associated with mutations in...
Am. J. Hum. Genet. - issue: 4 - volume: 90 - pages: 689-692.


Corbani, S.  et al. 2012

Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation

BACKGROUND: Rett syndrome (RTT), an X-linked, dominant, neurodevelopment disorder represents 10% of female subjects with profound intellectual disability. Mutations in the MECP2 gene are responsible...
J Intellect Disabil Res - issue: 4 - volume: 56 - pages: 415-420.


Compagnone, M.  et al. 2012

KRAS Mutation Spectrum Notably Diverges between Non-small Cell Lung and Colorectal Carcinomas

WOS:000301866500026
J. Thorac. Oncol. - issue: 4 - volume: 7 - pages: 773-774.


Birnbaum, DJ.  et al. 2012

Expression Profiles in Stage II Colon Cancer According to APC Gene Status

Colorectal cancer is one of the most common cancers in the world. Histoclinical staging is efficient, but combination with molecular markers may improve the classification of stage II cancers. Several...
Transl. Oncol. - issue: 2 - volume: 5 - pages: 72-76.


Jabbour, R.  et al. 2012

Epidemiology of Charcot-Marie-Tooth in Lebanon: Clinical, Genetic and Electrophysiological Correlation

Neurology - issue: - volume: 78 - pages: .


Corbani, S.  et al. 2012

Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation

Background Rett syndrome (RTT), an X-linked, dominant, neurodevelopment disorder represents 10% of female subjects with profound intellectual disability. Mutations in the MECP2 gene are responsible...
J. Intell. Disabil. Res. - issue: 4 - volume: 56 - pages: 415-420.


Jabbour, R.  et al. 2012

Epidemiology of Charcot-Marie-Tooth in Lebanon: Clinical, Genetic and Electrophysiological Correlation

WOS:000303204802561
Neurology - issue: - volume: 78 - pages: .


Corbani, S.  et al. 2012

Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation

Background Rett syndrome (RTT), an X-linked, dominant, neurodevelopment disorder represents 10% of female subjects with profound intellectual disability. Mutations in the MECP2 gene are responsible...
J. Intell. Disabil. Res. - issue: 4 - volume: 56 - pages: 415-420.