Robin, JD. et al. 2016 Physiological and Pathological Aging Affects Chromatin Dynamics, Structure and Function at the Nuclear Edge Lamins are intermediate filaments that form a complex meshwork at the inner nuclear membrane. Mammalian cells express two types of Lamins, Lamins A/C and Lamins B, encoded by three different genes,... Front Genet - issue: - volume: 7 - pages: 153.
Pinard, A. et al. 2016 Actionable Genes, Core Databases, and Locus-Specific Databases Adoption of next-generation sequencing (NGS) in a diagnostic context raises numerous questions with regard to identification and reports of secondary variants (SVs) in actionable genes. To better... Hum. Mutat. - issue: 12 - volume: 37 - pages: 1299-1307.
Ittel, A. et al. 2016 Molecular combing: A new tool in diagnosing leukemia BACKGROUND: According to the World Health Organization (WHO), recurrent cytogenetic abnormalities define many specific groups of hematopoietic tumors of acute myeloid and lymphoblastic leukemia, and... Cancer Biomark - issue: 4 - volume: 17 - pages: 405-409.
Sakellariou, P. et al. 2016 Neuromuscular electrical stimulation promotes development in mice of mature human muscle from immortalized human myoblasts BACKGROUND: Studies of the pathogenic mechanisms underlying human myopathies and muscular dystrophies often require animal models, but models of some human diseases are not yet available. Methods to... Skelet Muscle - issue: - volume: 6 - pages: 4.
Ittel, A. et al. 2016 Molecular combing: A new tool in diagnosing leukemia BACKGROUND: According to the World Health Organization (WHO), recurrent cytogenetic abnormalities define many specific groups of hematopoietic tumors of acute myeloid and lymphoblastic leukemia, and... Cancer Biomark - issue: 4 - volume: 17 - pages: 405-409.
Vernet, N. et al. 2016 Mouse Y-Encoded Transcription Factor Zfy2 Is Essential for Sperm Head Remodelling and Sperm Tail Development A previous study indicated that genetic information encoded on the mouse Y chromosome short arm (Yp) is required for efficient completion of the second meiotic division (that generates haploid round... PLoS ONE - issue: 1 - volume: 11 - pages: e0145398.
Matagne, V. et al. 2016 A codon-optimized Mecp2 transgene corrects breathing deficits and improves survival in a mouse model of Rett syndrome Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder that is primarily caused by mutations in the methyl CpG binding protein 2 gene (MECP2). RTT is the second most prevalent cause of... Neurobiol. Dis. - issue: - volume: 99 - pages: 1-11.
Matagne, V. et al. 2016 A codon-optimized Mecp2 transgene corrects breathing deficits and improves survival in a mouse model of Rett syndrome Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder that is primarily caused by mutations in the methyl CpG binding protein 2 gene (MECP2). RTT is the second most prevalent cause of... Neurobiol. Dis. - issue: - volume: 99 - pages: 1-11.
Pinard, A. et al. 2016 Actionable Genes, Core Databases, and Locus-Specific Databases Adoption of next-generation sequencing (NGS) in a diagnostic context raises numerous questions with regard to identification and reports of secondary variants (SVs) in actionable genes. To better... Hum. Mutat. - issue: 12 - volume: 37 - pages: 1299-1307.
Salgado, D. et al. 2016 How to Identify Pathogenic Mutations among All Those Variations: Variant Annotation and Filtration in the Genome Sequencing Era High-throughput sequencing technologies have become fundamental for the identification of disease-causing mutations in human genetic diseases both in research and clinical testing contexts. The... Hum. Mutat. - issue: 12 - volume: 37 - pages: 1272-1282.
Kim, W. et al. 2016 Regulation of the Human Telomerase Gene TERT by Telomere Position Effect-Over Long Distances (TPE-OLD): Implications for Aging and Cancer Telomerase is expressed in early human development and then becomes silenced in most normal tissues. Because ~90% of primary human tumors express telomerase and generally maintain very short... PLoS Biol. - issue: 12 - volume: 14 - pages: e2000016.
Pinard, A. et al. 2016 WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases High-throughput next-generation sequencing such as whole-exome and whole-genome sequencing are being rapidly integrated into clinical practice. The use of these techniques leads to the identification... Hum. Mutat. - issue: 12 - volume: 37 - pages: 1308-1317.
Pinard, A. et al. 2016 WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases High-throughput next-generation sequencing such as whole-exome and whole-genome sequencing are being rapidly integrated into clinical practice. The use of these techniques leads to the identification... Hum. Mutat. - issue: 12 - volume: 37 - pages: 1308-1317.
Pinard, A. et al. 2016 Actionable Genes, Core Databases, and Locus-Specific Databases Adoption of next-generation sequencing (NGS) in a diagnostic context raises numerous questions with regard to identification and reports of secondary variants (SVs) in actionable genes. To better... Hum. Mutat. - issue: 12 - volume: 37 - pages: 1299-1307.
Képénékian, L. et al. 2016 Long-term outcome of macroprolactinomas OBJECTIVE: Management of macroprolactinomas has dramatically changed in recent decades, from surgical to medical treatment as first-line therapy, with the development of dopamine agonists (DA). But... Ann. Endocrinol. (Paris) - issue: 6 - volume: 77 - pages: 641-648.
Salgado, D. et al. 2016 How to Identify Pathogenic Mutations among All Those Variations: Variant Annotation and Filtration in the Genome Sequencing Era High-throughput sequencing technologies have become fundamental for the identification of disease-causing mutations in human genetic diseases both in research and clinical testing contexts. The... Hum. Mutat. - issue: 12 - volume: 37 - pages: 1272-1282.
Pinard, A. et al. 2016 Actionable Genes, Core Databases, and Locus-Specific Databases Adoption of next-generation sequencing (NGS) in a diagnostic context raises numerous questions with regard to identification and reports of secondary variants (SVs) in actionable genes. To better... Hum. Mutat. - issue: 12 - volume: 37 - pages: 1299-1307.
Beroud, C. et al. 2016 BRCA Share: A Collection of Clinical BRCA Gene Variants As next-generation sequencing increases access to human genetic variation, the challenge of determining clinical significance of variants becomes ever more acute. Germline variants in the BRCA1 and... Hum. Mutat. - issue: 12 - volume: 37 - pages: 1318-1328.
Pinard, A. et al. 2016 Actionable Genes, Core Databases, and Locus-Specific Databases Adoption of next-generation sequencing (NGS) in a diagnostic context raises numerous questions with regard to identification and reports of secondary variants (SVs) in actionable genes. To better... Hum. Mutat. - issue: 12 - volume: 37 - pages: 1299-1307.
Pinard, A. et al. 2016 WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases High-throughput next-generation sequencing such as whole-exome and whole-genome sequencing are being rapidly integrated into clinical practice. The use of these techniques leads to the identification... Hum. Mutat. - issue: 12 - volume: 37 - pages: 1308-1317.