Vermalle, M. et al. 2018 Lack of functional remission in Cushing's syndrome. INTRODUCTION: Hypercortisolism leads to severe clinical consequences persisting after the onset of remission. These physical sequelae of cortisol exposure are known to profoundly impact the patient's... Endocrine - issue: 3 - volume: 61 - pages: 518-525.
Ku, CR. et al. 2018 Long-acting FC-fusion rhGH (GX-H9) shows potential for up to twice-monthly administration in GH-deficient adults. OBJECTIVE: Hybrid Fc-fused rhGH (GX-H9) is a long-acting recombinant human growth hormone (GH) under clinical development for both adults and children with GH deficiency (GHD). We compared the... Eur J Endocrinol - issue: 3 - volume: 179 - pages: 169-179.
Romanet, P. et al. 2018 Clinical study on the efficacy, acceptance, and safety of hearing aids in patients with mild to moderate presbyacusis. BACKGROUND: The primary objective of this trial was to demonstrate the effect of wearing a Hearing aid (HA) on improvement of hearing and comprehension in everyday life situations. METHODS: This... Panminerva Med - issue: 3 - volume: 60 - pages: 92-100.
Bramswig, NC. et al. 2018 Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies) NALCN is a conserved cation channel, which conducts a permanent sodium leak current and regulates resting membrane potential and neuronal excitability. It is part of a large ion channel complex, the... Hum. Genet. - issue: 9 - volume: 137 - pages: 753-768.
Ghedira, N. et al. 2018 Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome BACKGROUND: Noonan syndrome (NS) is an autosomal dominant multisystem disorder caused by the dysregulation of several genes belonging to the RAS Mitogen Activated Protein Kinase (MAPK) signaling... BMC Pediatr - issue: 1 - volume: 18 - pages: 286.
Ghedira, N. et al. 2018 Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome BACKGROUND:Noonan syndrome (NS) is an autosomal dominant multisystem disorder caused by the dysregulation of several genes belonging to the RAS Mitogen Activated Protein Kinase (MAPK) signaling... - issue: 1 - volume: 18 - pages: 286.
Nguyen, K. et al. 2018 Genetic spectrum of hypertrophic cardiomyopathy revisited. Whole Exome Sequencing reveals extreme genetic heterogeneity and new gene mutations in a multicenter series of 200 patients Background and objectives: Hypertrophic cardiomyopathy (HCM) is expected to be caused by a heterozygous mutation in one of the 5 main sarcomere genes (MYBPC3, MYH7, TNNT2, MYL2, TNNI3). However, the... - issue: - volume: 39 - pages: .
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: .