MMG PUBLICATIONS

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Results: 2253  publications found.

Martinez, E.  et al. 2015

Rs488087 single nucleotide polymorphism as predictive risk factor for pancreatic cancers

Pancreatic cancer (PC) is a devastating disease progressing asymptomatically until death within months after diagnosis. Defining at-risk populations should promote its earlier diagnosis and hence also...
Oncotarget - issue: 37 - volume: 6 - pages: 39855-39864.


Martinez, E.  et al. 2015

Rs488087 single nucleotide polymorphism as predictive risk factor for pancreatic cancers

Pancreatic cancer (PC) is a devastating disease progressing asymptomatically until death within months after diagnosis. Defining at-risk populations should promote its earlier diagnosis and hence also...
Oncotarget - issue: 37 - volume: 6 - pages: 39855-39864.


Vodopiutz, J.  et al. 2015

WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease

Infantile-onset cerebellar atrophy (CA) is a clinically and genetically heterogeneous trait. Galloway-Mowat syndrome (GMS) is a rare autosomal recessive disease, characterized by microcephaly with...
Hum. Mutat. - issue: 11 - volume: 36 - pages: 1021-1028.


Movahedi, M.  et al. 2015

Obesity, Aspirin, and Risk of Colorectal Cancer in Carriers of Hereditary Colorectal Cancer: A Prospective Investigation in the CAPP2 Study

Purpose In the general population, increased adiposity is a significant risk factor for colorectal cancer (CRC), but whether obesity has similar effects in those with hereditary CRC is uncertain. This...
J. Clin. Oncol. - issue: 31 - volume: 33 - pages: 3591-+.


Yaou, RB.  et al. 2015

[First Italo-French meeting on laminopathies and other pathologies related to the nuclear envelope]

Med Sci (Paris) - issue: - volume: 31 Spec No 3 - pages: 39-40.


Vodopiutz, J.  et al. 2015

WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease

Infantile-onset cerebellar atrophy (CA) is a clinically and genetically heterogeneous trait. Galloway-Mowat syndrome (GMS) is a rare autosomal recessive disease, characterized by microcephaly with...
Hum. Mutat. - issue: 11 - volume: 36 - pages: 1021-1028.


Stefanovic, S.  et al. 2015

GATA-dependent transcriptional and epigenetic control of cardiac lineage specification and differentiation

Heart progenitor cells differentiate into various cell types including pacemaker and working cardiomyocytes. Cell-type specific gene expression is achieved by combinatorial interactions between...
Cell. Mol. Life Sci. - issue: 20 - volume: 72 - pages: 3871-3881.


Choucair, N.  et al. 2015

10q26.1 Microdeletion: Redefining the critical regions for microcephaly and genital anomalies

Distal 10q deletion syndrome is a well-characterized chromosomal disorder consisting of neurodevelopmental impairment, facial dysmorphism, cardiac malformations, genital and urinary tract defects, as...
Am. J. Med. Genet. A - issue: 11 - volume: 167A - pages: 2707-2713.


Vodopiutz, J.  et al. 2015

WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease

Infantile-onset cerebellar atrophy (CA) is a clinically and genetically heterogeneous trait. Galloway-Mowat syndrome (GMS) is a rare autosomal recessive disease, characterized by microcephaly with...
Hum. Mutat. - issue: 11 - volume: 36 - pages: 1021-1028.


Pleil, A.  et al. 2015

Development of a Prediction Model of Disease Activity in Support of Clinical Practice - the Acrodat Experience

Value Health - issue: 7 - volume: 18 - pages: A708.


Vodopiutz, J.  et al. 2015

WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease

Infantile-onset cerebellar atrophy (CA) is a clinically and genetically heterogeneous trait. Galloway-Mowat syndrome (GMS) is a rare autosomal recessive disease, characterized by microcephaly with...
Hum. Mutat. - issue: 11 - volume: 36 - pages: 1021-1028.


Vodopiutz, J.  et al. 2015

WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease

Infantile-onset cerebellar atrophy (CA) is a clinically and genetically heterogeneous trait. Galloway-Mowat syndrome (GMS) is a rare autosomal recessive disease, characterized by microcephaly with...
Hum. Mutat. - issue: 11 - volume: 36 - pages: 1021-1028.


Vodopiutz, J.  et al. 2015

WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease

Infantile-onset cerebellar atrophy (CA) is a clinically and genetically heterogeneous trait. Galloway-Mowat syndrome (GMS) is a rare autosomal recessive disease, characterized by microcephaly with...
Hum. Mutat. - issue: 11 - volume: 36 - pages: 1021-1028.


Yaou, RB.  et al. 2015

[First Italo-French meeting on laminopathies and other pathologies related to the nuclear envelope]

Med Sci (Paris) - issue: - volume: 31 Spec No 3 - pages: 39-40.


Choucair, N.  et al. 2015

10q26.1 Microdeletion: Redefining the critical regions for microcephaly and genital anomalies

Distal 10q deletion syndrome is a well-characterized chromosomal disorder consisting of neurodevelopmental impairment, facial dysmorphism, cardiac malformations, genital and urinary tract defects, as...
Am. J. Med. Genet. A - issue: 11 - volume: 167A - pages: 2707-2713.


Vodopiutz, J.  et al. 2015

WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease

Infantile-onset cerebellar atrophy (CA) is a clinically and genetically heterogeneous trait. Galloway-Mowat syndrome (GMS) is a rare autosomal recessive disease, characterized by microcephaly with...
Hum. Mutat. - issue: 11 - volume: 36 - pages: 1021-1028.


Vodopiutz, J.  et al. 2015

WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease

Infantile-onset cerebellar atrophy (CA) is a clinically and genetically heterogeneous trait. Galloway-Mowat syndrome (GMS) is a rare autosomal recessive disease, characterized by microcephaly with...
Hum. Mutat. - issue: 11 - volume: 36 - pages: 1021-1028.


Lacruz, RS.  et al. 2015

Diseases caused by mutations in ORAI1 and STIM1

Ca(2+) release-activated Ca(2+) (CRAC) channels mediate a specific form of Ca(2+) influx called store-operated Ca(2+) entry (SOCE) that contributes to the function of many cell types. CRAC channels...
Ann. N. Y. Acad. Sci. - issue: - volume: 1356 - pages: 45-79.


Ben Yaou, R.  et al. 2015

First italo-french meeting on laminopathies and other pathologies related to the nuclear envelope

M S-Med. Sci. - issue: - volume: 31 - pages: 39-40.


He, W.  et al. 2015

CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase

Selective neuronal loss is a hallmark of neurodegenerative diseases, which, counterintuitively, are often caused by mutations in widely expressed genes. Charcot-Marie-Tooth (CMT) diseases are the most...
Nature - issue: 7575 - volume: 526 - pages: 710-714.