Zaffran, S. et al. 2018 Ectopic expression of Hoxb1 induces cardiac and craniofacial malformations Members of the large family of Hox transcription factors are encoded by genes whose tightly regulated expression in development and in space within different embryonic tissues confer positional... Genesis - issue: 5-6 - volume: 56 - pages: e23221.
Cavodeassi, F. et al. 2018 The hedgehog pathway and ocular developmental anomalies Mutations in effectors of the hedgehog signaling pathway are responsible for a wide variety of ocular developmental anomalies. These range from massive malformations of the brain and ocular primordia,... Hum. Genet. - issue: - volume: - pages: .
Cavodeassi, F. et al. 2018 The hedgehog pathway and ocular developmental anomalies Mutations in effectors of the hedgehog signaling pathway are responsible for a wide variety of ocular developmental anomalies. These range from massive malformations of the brain and ocular primordia,... Hum Genet - issue: - volume: - pages: .
Cavodeassi, F. et al. 2018 The hedgehog pathway and ocular developmental anomalies Mutations in effectors of the hedgehog signaling pathway are responsible for a wide variety of ocular developmental anomalies. These range from massive malformations of the brain and ocular primordia,... Hum. Genet. - issue: - volume: - pages: .
Juneja, M. et al. 2018 PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease BACKGROUND: Charcot-Marie-Tooth type 2 (CMT2) neuropathy is characterised by a vast clinical and genetic heterogeneity complicating its diagnosis and therapeutic intervention. Identification of... J. Neurol. Neurosurg. Psychiatry - issue: 8 - volume: 89 - pages: 870-878.
Frankel, D. et al. 2018 MicroRNAs in hereditary and sporadic premature aging syndromes and other laminopathies Hereditary and sporadic laminopathies are caused by mutations in genes encoding lamins, their partners, or the metalloprotease ZMPSTE24/FACE1. Depending on the clinical phenotype, they are classified... - issue: 4 - volume: 17 - pages: e12766.
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... - issue: 2 - volume: 179 - pages: 97-108.
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: .