Cuny, T. et al. 2019 Acromegaly in Carney complex Purpose Carney complex (CNC) is a rare autosomal dominant syndrome, characterized by mucocutaneous pigmentation, cardiac, cutaneous myxomas and endocrine overactivity. It is generally caused by... - issue: 5 - volume: 22 - pages: 456-466.
Mejean, C. et al. 2019 Chronic hepatitis associated with antiribosomal-P autoantibodies in a 14-year-old girl We reported the first pediatric case of auto-immune hepatitis with positive anti-P antibodies. On the basis of our findings, adding auto anti-P screening in pediatric seronegative HAI may be... - issue: 10 - volume: 7 - pages: 2008-2010.
Laquiere, AE. et al. 2019 Genomic profile concordance between pancreatic cyst fluid and neoplastic tissue - issue: 36 - volume: 25 - pages: 5530-5542.
Laquiere, AE. et al. 2019 Genomic profile concordance between pancreatic cyst fluid and neoplastic tissue BACKGROUND DNA mutational analysis of pancreatic cystic fluid (CF) is a useful adjunct to the evaluation of pancreatic cysts. KRAS/GNAS or RAF/PTPRD/CTNNB1/RNF43 mutations are highly specific to... - issue: 36 - volume: 25 - pages: 5530-5542.
Martin, G. et al. 2019 Mosaicism of XX and XXY cells accounts for high copy number of Toll like Receptor 7 and 8 genes in peripheral blood of men with Rheumatoid Arthritis - issue: - volume: 9 - pages: .
Martin, G. et al. 2019 Mosaicism of XX and XXY cells accounts for high copy number of Toll like Receptor 7 and 8 genes in peripheral blood of men with Rheumatoid Arthritis The X chromosome, hemizygous in males, contains numerous genes important to immunological and hormonal function. Alterations in X-linked gene dosage are suspected to contribute to female predominance... - issue: - volume: 9 - pages: .
The DREAM Module Identification Challenge Consortium, . et al. 2019 Assessment of network module identification across complex diseases Many bioinformatics methods have been proposed for reducing the complexity of large gene or protein networks into relevant subnetworks or modules. Yet, how such methods compare to each other in terms... Nature Methods - issue: 9 - volume: 16 - pages: 843-852.
Nguyen, K. et al. 2019 Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy BACKGROUND: Subtelomeres are variable regions between telomeres and chromosomal-specific regions. One of the most studied pathologies linked to subtelomeric imbalance is facioscapulohumeral dystrophy... J. Med. Genet. - issue: 9 - volume: 56 - pages: 590-601.
Moulin, J. et al. 2019 Hospital-based home care for young children newly diagnosed with type 1 diabetes: Assessing expectations and obstacles in families and general practitioners - issue: 6 - volume: 26 - pages: 324-329.
Werner, O. et al. 2019 Parental anxiety before invasive cardiac procedure in children with congenital heart disease: Contributing factors and consequences - issue: 5 - volume: 14 - pages: 778-784.
Uboldi, C. et al. 2019 In Vitro Analysis of the Effects of ITER-Like Tungsten Nanoparticles: Cytotoxicity and Epigenotoxicity in BEAS-2B Cells - issue: 9 - volume: 9 - pages: .
Albarel, F. et al. 2019 Immune check point inhibitors-induced hypophysitis - issue: 3 - volume: 181 - pages: R107-R118.
Cavodeassi, F. et al. 2019 The hedgehog pathway and ocular developmental anomalies - issue: 8-9, SI - volume: 138 - pages: 917-936.
Moulin, J. et al. 2019 Hospital-based home care for young children newly diagnosed with type 1 diabetes: Assessing expectations and obstacles in families and general practitioners Aims: This study aimed to evaluate whether hospital-based home care was desired by the parents of children diagnosed with type 1 diabetes (T1D) under the age of 5 years and their general... - issue: 6 - volume: 26 - pages: 324-329.
Werner, O. et al. 2019 Parental anxiety before invasive cardiac procedure in children with congenital heart disease: Contributing factors and consequences Objective Medical information provided to parents of a child with a congenital heart disease can induce major stress. Visual analog scales have been validated to assess anxiety in the adult... - issue: 5 - volume: 14 - pages: 778-784.
Uboldi, C. et al. 2019 In Vitro Analysis of the Effects of ITER-Like Tungsten Nanoparticles: Cytotoxicity and Epigenotoxicity in BEAS-2B Cells Tungsten was chosen as a wall component to interact with the plasma generated by the International Thermonuclear Experimental fusion Reactor (ITER). Nevertheless, during plasma operation tritiated... - issue: 9 - volume: 9 - pages: .
Albarel, F. et al. 2019 Immune check point inhibitors-induced hypophysitis In recent years, the development of immunotherapy has constituted a revolution in the therapy for many cancers, with a specific toxicity profile including endocrine immune-related adverse events.... - issue: 3 - volume: 181 - pages: R107-R118.
Cavodeassi, F. et al. 2019 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,... - issue: 8-9, SI - volume: 138 - pages: 917-936.
Uboldi, C. et al. 2019 In Vitro Analysis of the Effects of ITER-Like Tungsten Nanoparticles: Cytotoxicity and Epigenotoxicity in BEAS-2B Cells Tungsten was chosen as a wall component to interact with the plasma generated by the International Thermonuclear Experimental fusion Reactor (ITER). Nevertheless, during plasma operation tritiated... Nanomaterials (Basel) - issue: 9 - volume: 9 - pages: .
Zaravinos, A. et al. 2019 Cytolytic activity correlates with the mutational burden and deregulated expression of immune checkpoints in colorectal cancer - issue: 1 - volume: 38 - pages: .