Koy, A. et al. 2018 Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia Background: Exacerbation of hyperkinesia is a life-threatening complication of dyskinetic movement disorders, which can lead to multi-organ failure and even to death. GNAO1 has been recently... - issue: - volume: 391 - pages: 31-39.
Martin, S. et al. 2018 Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study BACKGROUND: 16p11.2 breakpoint 4 to 5 copy number variants (CNVs) increase the risk for developing autism spectrum disorder, schizophrenia, and language and cognitive impairment. In this multisite... - issue: 4 - volume: 84 - pages: 253 - 264.
Neumann, HP. et al. 2018 65 YEARS OF THE DOUBLE HELIX: Genetics informs precision practice in the diagnosis and management of pheochromocytoma. Although the authors of the present review have contributed to genetic discoveries in the field of pheochromocytoma research, we can legitimately ask whether these advances have led to improvements... Endocr Relat Cancer - issue: 8 - volume: 25 - pages: T201-T219.
Trainer, PJ. et al. 2018 A randomised, open-label, parallel group phase 2 study of antisense oligonucleotide therapy in acromegaly. OBJECTIVE: ATL1103 is a second-generation antisense oligomer targeting the human growth hormone (GH) receptor. This phase 2 randomised, open-label, parallel-group study assessed the potential of... Eur J Endocrinol - issue: 2 - volume: 179 - pages: 97-108.
Gabriel, S. et al. 2018 Prospective evaluation of (68) Ga-DOTATATE PET/CT in limited disease neuroendocrine tumours and/or elevated serum neuroendocrine biomarkers. CONTEXT: The (68) Ga-labelled somatostatin analogues ((68) Ga-DOTA-SSAs) is becoming popular as an important diagnostic tool in neuroendocrine tumours as evidenced by a growing number of reports... Clin Endocrinol (Oxf) - issue: 2 - volume: 89 - pages: 155-163.
El-Bazzal, L. et al. 2018 A novel EXT2 mutation in a consanguineous family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia extends the phenotypic spectrum of autosomal recessive EXT2-related syndrome (AREXT2) We report a consanguineous family where 2 boys presented with developmental delay, hypotonia, microcephaly, seizures, gastro-intestinal abnormalities, osteopenia, and neurological regression. Whole... Eur J Med Genet - issue: - volume: - pages: .
El-Bazzal, L. et al. 2018 A novel EXT2 mutation in a consanguineous family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia extends the phenotypic spectrum of autosomal recessive EXT2-related syndrome (AREXT2) We report a consanguineous family where 2 boys presented with developmental delay, hypotonia, microcephaly, seizures, gastro-intestinal abnormalities, osteopenia, and neurological regression. Whole... Eur J Med Genet - issue: - volume: - pages: .
Jaouadi, H. et al. 2018 Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features Pediatric cardiomyopathy is a complex disease with clinical and genetic heterogeneity. Recently, the ALPK3 gene was described as a new hereditary cardiomyopathy gene underlying pediatric... J Hum Genet - issue: - volume: 63 - pages: 1077-1082.
Jaouadi, H. et al. 2018 Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features. Pediatric cardiomyopathy is a complex disease with clinical and genetic heterogeneity. Recently, the ALPK3 gene was described as a new hereditary cardiomyopathy gene underlying pediatric... - issue: - volume: 63 - pages: 1077--1082.
Shabana, n. et al. 2018 Use of a gene score of multiple low-modest effect size variants can predict the risk of obesity better than the individual SNPs BACKGROUND: Obesity is a complex disorder, the development of which is modulated by a multitude of environmental, behavioral and genetic factors. The common forms of obesity are polygenic in nature... Lipids Health Dis - issue: 1 - volume: 17 - pages: 155.
Valdeolivas, A. et al. 2018 Random Walk with Restart on Multiplex and Heterogeneous Biological Networks Motivation: Recentyears have witnessed anexponentialgrowthin thenumberof identified interactions between biological molecules. These interactions are usually represented as large and complex networks,... Bioinformatics - issue: - volume: - pages: .
Valdeolivas, A. et al. 2018 Random Walk with Restart on Multiplex and Heterogeneous Biological Networks Motivation: Recentyears have witnessed anexponentialgrowthin thenumberof identified interactions between biological molecules. These interactions are usually represented as large and complex networks,... Bioinformatics - issue: - volume: - pages: .
Valdeolivas, A. et al. 2018 Random walk with restart on multiplex and heterogeneous biological networks - issue: - volume: - pages: .
Guinde, J. et al. 2018 Lamins in Lung Cancer: Biomarkers and Key Factors for Disease Progression through miR-9 Regulation? Lung cancer represents the primary cause of cancer death in the world. Malignant cells identification and characterization are crucial for the diagnosis and management of patients with primary or... Cells - issue: 7 - volume: 7 - pages: .
Guinde, J. et al. 2018 Lamins in Lung Cancer: Biomarkers and Key Factors for Disease Progression through miR-9 Regulation? Lung cancer represents the primary cause of cancer death in the world. Malignant cells identification and characterization are crucial for the diagnosis and management of patients with primary or... Cells - issue: 7 - volume: 7 - pages: .
Valence, S. et al. 2018 Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies PURPOSE: To investigate the genetic basis of congenital ataxias (CAs), a unique group of cerebellar ataxias with a nonprogressive course, in 20 patients from consanguineous families, and to identify... Genet. Med. - issue: - volume: - pages: .
Valence, S. et al. 2018 Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies - issue: - volume: - pages: .
Didier, G. et al. 2018 Identifying communities from multiplex biological networks by randomized optimization of modularity The identification of communities, or modules, is a common operation in the analysis of large biological networks. The Disease Module Identification DREAM challenge established a framework to evaluate... F1000Research - issue: - volume: 7 - pages: 1042.
Didier, G. et al. 2018 Identifying communities from multiplex biological networks by randomized optimization of modularity The identification of communities, or modules, is a common operation in the analysis of large biological networks. The Disease Module Identification established a framework to evaluate clustering... - issue: - volume: 7 - pages: .
Benson, MD. et al. 2018 Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis BACKGROUND: Hereditary transthyretin amyloidosis is caused by pathogenic single-nucleotide variants in the gene encoding transthyretin ( TTR) that induce transthyretin misfolding and systemic... N. Engl. J. Med. - issue: 1 - volume: 379 - pages: 22-31.