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.

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.

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.

Metzger, T.  et al. 2012

MAP and kinesin-dependent nuclear positioning is required for skeletal muscle function

The basic unit of skeletal muscle in all metazoans is the multinucleate myofibre, within which individual nuclei are regularly positioned. The molecular machinery responsible for myonuclear...
Nature - issue: 7392 - volume: 484 - pages: 120-124.

Metzger, T.  et al. 2012

MAP and kinesin-dependent nuclear positioning is required for skeletal muscle function

The basic unit of skeletal muscle in all metazoans is the multinucleate myofibre, within which individual nuclei are regularly positioned. The molecular machinery responsible for myonuclear...
Nature - issue: 7392 - volume: 484 - pages: 120-124.

Rochais, F.  et al. 2012

Fgf10 regulates fetal cardiac growth

WOS:000301975800412
Cardiovasc. Res. - issue: - volume: 93 - pages: S97-S97.

Ahles, A.  et al. 2012

The Gly389Arg polymorphism determines the activation kinetics of the human beta(1)-adrenergic receptor

WOS:000300779500007
Naunyn-Schmiedebergs Arch. Pharmacol. - issue: - volume: 385 - pages: 4-4.

Poitelon, Y.  et al. 2012

Behavioral and molecular exploration of the AR-CMT2A mouse model Lmna (R298C/R298C)

In 2002, we identified LMNA as the first gene responsible for an autosomal recessive axonal form of Charcot-Marie-Tooth disease, AR-CMT2A. All patients were found to be homozygous for the same...
Neuromolecular Med. - issue: 1 - volume: 14 - pages: 40-52.

Blandin, G.  et al. 2012

UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene

Mutations in the dysferlin gene (DYSF) lead to a complete or partial absence of the dysferlin protein in skeletal muscles and are at the origin of dysferlinopathies, a heterogeneous group of rare...
Hum. Mutat. - issue: 3 - volume: 33 - pages: E2317-2331.