Salgado, D. et al. 2016 UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution Whole-exome sequencing (WES) is increasingly applied to research and clinical diagnosis of human diseases. It typically results in large amounts of genetic variations. Depending on the mode of... Hum. Mutat. - issue: 5 - volume: 37 - pages: 439-446.
Vernooij, CA. et al. 2016 Physiological tremor reveals how thixotropy adapts skeletal muscle for posture and movement People and animals can move freely, but they must also be able to stay still. How do skeletal muscles economically produce both movement and posture? Humans are well known to have motor units with... R Soc Open Sci - issue: 5 - volume: 3 - pages: 160065.
Renard, D. et al. 2016 Calf hypertrophy and gastrocnemius MRI short tau inversion recovery (STIR) hyperintensity in a patient with asymptomatic hyperCKemia caused by caveolin-3 gene mutation Neuromuscul. Disord. - issue: 4-5 - volume: 26 - pages: 326-327.
Di Meglio, C. et al. 2016 Clinical and allelic heterogeneity in a pediatric cohort of 11 patients carrying MFN2 mutation Introduction: The Mitofusin 2 gene (MFN2), which encodes a mitochondrial membrane protein, is known to be the first cause of autosomal dominant Charcot Marie Tooth disease type 2 (CMT2) with early... Brain Dev. - issue: 5 - volume: 38 - pages: 498-506.
Salgado, D. et al. 2016 UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution Whole-exome sequencing (WES) is increasingly applied to research and clinical diagnosis of human diseases. It typically results in large amounts of genetic variations. Depending on the mode of... Hum. Mutat. - issue: 5 - volume: 37 - pages: 439-446.
Galant, D. et al. 2016 A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy ZMPSTE24 encodes the only metalloprotease, which transforms prelamin into mature lamin A. Up to now, mutations in ZMPSTE24 have been linked to Restrictive Dermopathy (RD), Progeria or Mandibulo-Acral... Cells - issue: 2 - volume: 5 - pages: .
Galant, D. et al. 2016 A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy ZMPSTE24 encodes the only metalloprotease, which transforms prelamin into mature lamin A. Up to now, mutations in ZMPSTE24 have been linked to Restrictive Dermopathy (RD), Progeria or Mandibulo-Acral... Cells - issue: 2 - volume: 5 - pages: .
Galant, D. et al. 2016 A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy ZMPSTE24 encodes the only metalloprotease, which transforms prelamin into mature lamin A. Up to now, mutations in ZMPSTE24 have been linked to Restrictive Dermopathy (RD), Progeria or Mandibulo-Acral... Cells - issue: 2 - volume: 5 - pages: .
Ambrosi, P. et al. 2016 A novel overlapping phenotype characterized by lipodystrophy, mandibular dysplasia, and dilated cardiomyopathy associated with a new mutation in the LMNA gene Int. J. Cardiol. - issue: - volume: 209 - pages: 317-318.
Ambrosi, P. et al. 2016 A novel overlapping phenotype characterized by lipodystrophy, mandibular dysplasia, and dilated cardiomyopathy associated with a new mutation in the LMNA gene Int. J. Cardiol. - issue: - volume: 209 - pages: 317-318.
Ambrosi, P. et al. 2016 A novel overlapping phenotype characterized by lipodystrophy, mandibular dysplasia, and dilated cardiomyopathy associated with a new mutation in the LMNA gene Int. J. Cardiol. - issue: - volume: 209 - pages: 317-318.
Ambrosi, P. et al. 2016 A novel overlapping phenotype characterized by lipodystrophy, mandibular dysplasia, and dilated cardiomyopathy associated with a new mutation in the LMNA gene WOS:000372530700078 Int. J. Cardiol. - issue: - volume: 209 - pages: 317-318.
Ambrosi, P. et al. 2016 A novel overlapping phenotype characterized by lipodystrophy, mandibular dysplasia, and dilated cardiomyopathy associated with a new mutation in the LMNA gene Int. J. Cardiol. - issue: - volume: 209 - pages: 317-318.
Hamadou, WS. et al. 2016 Familial hematological malignancies: ASXL1 gene investigation Familial aggregation among patients with several hematological malignancies has been revealed. This emphasizes the importance of genetic factors. Only few genes predisposing to familial hematological... Clin. Transl. Oncol. - issue: 4 - volume: 18 - pages: 385-390.
Zillhardt, JL. et al. 2016 Mosaic parental germline mutations causing recurrent forms of malformations of cortical development To unravel missing genetic causes underlying monogenic disorders with recurrence in sibling, we explored the hypothesis of parental germline mosaic mutations in familial forms of malformation of... Eur. J. Hum. Genet. - issue: 4 - volume: 24 - pages: 611-614.
Abidi, A. et al. 2016 Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient Variants in the WD repeat 45 (WDR45) gene in human Xp11.23 have recently been identified in patients suffering from neurodegeneration with brain iron accumulation, a genetically and phenotypically... Eur. J. Hum. Genet. - issue: 4 - volume: 24 - pages: 615-618.
Abidi, A. et al. 2016 Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient Variants in the WD repeat 45 (WDR45) gene in human Xp11.23 have recently been identified in patients suffering from neurodegeneration with brain iron accumulation, a genetically and phenotypically... Eur. J. Hum. Genet. - issue: 4 - volume: 24 - pages: 615-618.
Chassaing, N. et al. 2016 Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network Ocular developmental anomalies (ODA) such as anophthalmia/microphthalmia (AM) or anterior segment dysgenesis (ASD) have an estimated combined prevalence of 3.7 in 10,000 births. Mutations in SOX2 are... Genome Res. - issue: 4 - volume: 26 - pages: 474-485.
Caron, PJ. et al. 2016 Effects of lanreotide Autogel primary therapy on symptoms and quality-of-life in acromegaly: data from the PRIMARYS study PURPOSE: To evaluate the effects of lanreotide Autogel on patient-reported outcomes and association with biochemical control, using PRIMARYS data. METHODS: PRIMARYS was a 1-year, open-label study of... Pituitary - issue: 2 - volume: 19 - pages: 149-157.
Abidi, A. et al. 2016 Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient. Variants in the WD repeat 45 (WDR45) gene in human Xp11.23 have recently been identified in patients suffering from neurodegeneration with brain iron accumulation, a genetically and phenotypically... Eur J Hum Genet - issue: 4 - volume: 24 - pages: 615-618.