MMG PUBLICATIONS

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Results: 4196  publications found.

Di Meglio, C.  et al. 2015

Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases

OBJECTIVE: Mutations in the syntaxin binding protein 1 gene (STXBP1) have been associated mostly with early onset epileptic encephalopathies (EOEEs) and Ohtahara syndrome, with a mutation detection...
Epilepsia - issue: 12 - volume: 56 - pages: 1931-1940.

Gorokhova, S.  et al. 2015

Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders

Massively parallel sequencing is rapidly becoming a widely used method in genetic diagnostics. However, there is still no clear consensus as to which approach can most efficiently identify the...
Appl Transl Genom - issue: - volume: 7 - pages: 26-31.

Levine, RA.  et al. 2015

Mitral valve disease--morphology and mechanisms

Mitral valve disease is a frequent cause of heart failure and death. Emerging evidence indicates that the mitral valve is not a passive structure, but--even in adult life--remains dynamic and...
Nat Rev Cardiol - issue: 12 - volume: 12 - pages: 689-710.

Gorokhova, S.  et al. 2015

Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders

Massively parallel sequencing is rapidly becoming a widely used method in genetic diagnostics. However, there is still no clear consensus as to which approach can most efficiently identify the...
Appl Transl Genom - issue: - volume: 7 - pages: 26-31.

Kaplan, J.  et al. 2015

The 2016 version of the gene table of monogenic neuromuscular disorders (nuclear genome)

Neuromuscul. Disord. - issue: 12 - volume: 25 - pages: 991-1020.

Chanson, P.  et al. 2015

Pegvisomant treatment in patients with acromegaly in clinical practice: The French ACROSTUDY

OBJECTIVE: To monitor long-term pegvisomant treatment of patients with acromegaly in routine clinical practice. PATIENTS AND METHODS: The French ACROSTUDY is part of the global ACROSTUDY, an...
Ann. Endocrinol. (Paris) - issue: 6 - volume: 76 - pages: 664-670.

Di Meglio, C.  et al. 2015

Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.

OBJECTIVE: Mutations in the syntaxin binding protein 1 gene (STXBP1) have been associated mostly with early onset epileptic encephalopathies (EOEEs) and Ohtahara syndrome, with a mutation detection...
Epilepsia - issue: 12 - volume: 56 - pages: 1931-1940.

Grozeva, D.  et al. 2015

Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

To identify genetic causes of intellectual disability (ID), we screened a cohort of 986 individuals with moderate to severe ID for variants in 565 known or candidate ID-associated genes using...
Hum Mutat - issue: 12 - volume: 36 - pages: 1197-1204.

Di Meglio, C.  et al. 2015

Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases

OBJECTIVE: Mutations in the syntaxin binding protein 1 gene (STXBP1) have been associated mostly with early onset epileptic encephalopathies (EOEEs) and Ohtahara syndrome, with a mutation detection...
Epilepsia - issue: 12 - volume: 56 - pages: 1931-1940.

Boushaki, S.  et al. 2015

Prevalence of BTK mutations in male Algerian patterns with agammaglobulinemia and severe B cell lymphopenia

X linked agammaglobulinemia (XLA) is the first described primary immunodeficiency and the most common form of agammaglobulinemia. It is characterized by susceptibility to recurrent infections,...
Clin. Immunol. - issue: 2 - volume: 161 - pages: 286-290.

Gorokhova, S.  et al. 2015

Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders

Massively parallel sequencing is rapidly becoming a widely used method in genetic diagnostics. However, there is still no clear consensus as to which approach can most efficiently identify the...
Appl. Transl. Genomics - issue: - volume: 7 - pages: 26-31.

Capo-Chichi, J.  et al. 2015

Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay

Background: Recently, biallelic mutations in the Neuroblastoma Amplified Sequence NBAS gene have been identified in ten patients that present recurrent acute liver failure (RALF) in early infancy. In...
Eur. J. Med. Genet. - issue: 12 - volume: 58 - pages: 637-641.

Gorokhova, S.  et al. 2015

Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders

Massively parallel sequencing is rapidly becoming a widely used method in genetic diagnostics. However, there is still no clear consensus as to which approach can most efficiently identify the...
Appl Transl Genom - issue: - volume: 7 - pages: 26-31.

Levine, RA.  et al. 2015

Mitral valve disease--morphology and mechanisms

Mitral valve disease is a frequent cause of heart failure and death. Emerging evidence indicates that the mitral valve is not a passive structure, but--even in adult life--remains dynamic and...
Nat Rev Cardiol - issue: 12 - volume: 12 - pages: 689-710.

Gorokhova, S.  et al. 2015

Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders

Massively parallel sequencing is rapidly becoming a widely used method in genetic diagnostics. However, there is still no clear consensus as to which approach can most efficiently identify the...
Appl. Transl. Genomics - issue: - volume: 7 - pages: 26-31.

Cooper, ST.  et al. 2015

Membrane Injury and Repair in the Muscular Dystrophies

Muscle cells have an elaborate plasma membrane and t-tubule system that has been evolutionarily refined to maximize electrical conductivity for synchronous muscle contraction. However, this elaborate...
Neuroscientist - issue: 6 - volume: 21 - pages: 653-668.

Levine, RA.  et al. 2015

Mitral valve disease--morphology and mechanisms

Mitral valve disease is a frequent cause of heart failure and death. Emerging evidence indicates that the mitral valve is not a passive structure, but--even in adult life--remains dynamic and...
Nat Rev Cardiol - issue: 12 - volume: 12 - pages: 689-710.

Gorokhova, S.  et al. 2015

Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders

Massively parallel sequencing is rapidly becoming a widely used method in genetic diagnostics. However, there is still no clear consensus as to which approach can most efficiently identify the...
Appl. Transl. Genomics - issue: - volume: 7 - pages: 26-31.

Robin, JD.  et al. 2015

SORBS2 transcription is activated by telomere position effect-over long distance upon telomere shortening in muscle cells from patients with facioscapulohumeral dystrophy

DNA is organized into complex three-dimensional chromatin structures, but how this spatial organization regulates gene expression remains a central question. These DNA/chromatin looping structures can...
Genome Res. - issue: 12 - volume: 25 - pages: 1781-1790.

Robin, JD.  et al. 2015

SORBS2 transcription is activated by telomere position effect-over long distance upon telomere shortening in muscle cells from patients with facioscapulohumeral dystrophy

DNA is organized into complex three-dimensional chromatin structures, but how this spatial organization regulates gene expression remains a central question. These DNA/chromatin looping structures can...
Genome Res. - issue: 12 - volume: 25 - pages: 1781-1790.