PUBLICATIONS of MMG

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Résultats : 3193  publications trouvées.

Grillo, E.  et al. 2012

Rett networked database: an integrated clinical and genetic network of Rett syndrome databases

Rett syndrome (RTT) is a neurodevelopmental disorder with one principal phenotype and several distinct, atypical variants (Zappella, early seizure onset and congenital variants). Mutations in MECP2...
Hum. Mutat. - issue: 7 - volume: 33 - pages: 1031-1036.


Boon, R.  et al. 2012

A Day in the Life of a Young Investigator

WOS:000306977000005
Circulation - issue: 25 - volume: 125 - pages: F145-F150.


Decarpentrie, F.  et al. 2012

Human and mouse ZFY genes produce a conserved testis-specific transcript encoding a zinc finger protein with a short acidic domain and modified transactivation potential

Mammalian ZFY genes are located on the Y chromosome, and code putative transcription factors with 12-13 zinc fingers preceded by a large acidic (activating) domain. In mice, there are two genes, Zfy1...
Hum. Mol. Genet. - issue: 12 - volume: 21 - pages: 2631-2645.


Decarpentrie, F.  et al. 2012

Human and mouse ZFY genes produce a conserved testis-specific transcript encoding a zinc finger protein with a short acidic domain and modified transactivation potential

Mammalian ZFY genes are located on the Y chromosome, and code putative transcription factors with 12-13 zinc fingers preceded by a large acidic (activating) domain. In mice, there are two genes, Zfy1...
Hum. Mol. Genet. - issue: 12 - volume: 21 - pages: 2631-2645.


Farini, A.  et al. 2012

Absence of T and B lymphocytes modulates dystrophic features in dysferlin deficient animal model

Dysferlin mutations cause muscular dystrophy (dysferlinopathy) characterized by adult onset muscle weakness, high serum creatine kinase levels, attenuation of muscle regeneration and a prominent...
Exp. Cell Res. - issue: 10 - volume: 318 - pages: 1160-1174.


Baudot, C.  et al. 2012

Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H)

By sequencing of the FGD4 coding sequence in a cohort of 101 patients affected by autosomal recessive demyelinating Charcot-Marie-Tooth disease (CMT), we have identified two novel missense mutations...
J. Peripher. Nerv. Syst. - issue: 2 - volume: 17 - pages: 141-146.


Chassaing, N.  et al. 2012

OTX2 mutations contribute to the otocephaly-dysgnathia complex

BACKGROUND: Otocephaly or dysgnathia complex is characterised by mandibular hypoplasia/agenesis, ear anomalies, microstomia, and microglossia; the molecular basis of this developmental defect is...
J. Med. Genet. - issue: 6 - volume: 49 - pages: 373-379.


Baudot, C.  et al. 2012

Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H)

By sequencing of the FGD4 coding sequence in a cohort of 101 patients affected by autosomal recessive demyelinating Charcot-Marie-Tooth disease (CMT), we have identified two novel missense mutations...
J. Peripher. Nerv. Syst. - issue: 2 - volume: 17 - pages: 141-146.


Chassaing, N.  et al. 2012

OTX2 mutations contribute to the otocephaly-dysgnathia complex

BACKGROUND: Otocephaly or dysgnathia complex is characterised by mandibular hypoplasia/agenesis, ear anomalies, microstomia, and microglossia; the molecular basis of this developmental defect is...
J. Med. Genet. - issue: 6 - volume: 49 - pages: 373-379.


Baudot, C.  et al. 2012

Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H)

By sequencing of the FGD4 coding sequence in a cohort of 101 patients affected by autosomal recessive demyelinating Charcot-Marie-Tooth disease (CMT), we have identified two novel missense mutations...
J. Peripher. Nerv. Syst. - issue: 2 - volume: 17 - pages: 141-146.


Baudot, C.  et al. 2012

Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H)

By sequencing of the FGD4 coding sequence in a cohort of 101 patients affected by autosomal recessive demyelinating Charcot-Marie-Tooth disease (CMT), we have identified two novel missense mutations...
J. Peripher. Nerv. Syst. - issue: 2 - volume: 17 - pages: 141-146.


Boehm, J.  et al. 2012

Mutation Spectrum in the Large GTPase Dynamin 2, and Genotype-Phenotype Correlation in Autosomal Dominant Centronuclear Myopathy

Centronuclear myopathy (CNM) is a genetically heterogeneous disorder associated with general skeletal muscle weakness, type I fiber predominance and atrophy, and abnormally centralized nuclei....
Hum. Mutat. - issue: 6 - volume: 33 - pages: 949-959.


Baudot, C.  et al. 2012

Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H)

By sequencing of the FGD4 coding sequence in a cohort of 101 patients affected by autosomal recessive demyelinating Charcot-Marie-Tooth disease (CMT), we have identified two novel missense mutations...
J. Peripher. Nerv. Syst. - issue: 2 - volume: 17 - pages: 141-146.


Chassaing, N.  et al. 2012

OTX2 mutations contribute to the otocephaly-dysgnathia complex

Background Otocephaly or dysgnathia complex is characterised by mandibular hypoplasia/agenesis, ear anomalies, microstomia, and microglossia; the molecular basis of this developmental defect is...
J. Med. Genet. - issue: 6 - volume: 49 - pages: 373-379.


Bertucci, F.  et al. 2012

8q24 Cancer Risk Allele Associated with Major Metastatic Risk in Inflammatory Breast Cancer

Background: Association studies have identified low penetrance alleles that participate to the risk of cancer development. The 8q24 chromosomal region contains several such loci involved in various...
PLoS One - issue: 5 - volume: 7 - pages: e37943.


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.


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.


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.


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.


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.