Results 301 to 310 of about 2,712,849 (369)

Pediatric cancer predisposition syndromes involving non-central nervous system solid pediatric tumors: a review on their manifestations with a focus on histopathology. [PDF]

Virchows Arch
Schurink B, Reyes-Múgica M, de Krijger RR.   +2 more
europepmc   +1 more source

Human papillomavirus disease in GATA2 deficiency: a genetic predisposition to HPV-associated female anogenital malignancy

Ehren K. Dancy, Pamela Stratton, Dominique C. Pichard, Beatriz E. Marciano, Edward W. Cowen, Alison A. McBride, Koenraad Van Doorslaer, Melissa A. Merideth, Noemi Salmeri, Marybeth S. Hughes, Theo Heller, Mark Parta, Dennis D. Hickstein, Heidi H. Kong, Steven M. Holland, Christa S. Zerbe   +15 more
openalex   +1 more source

Prediction and prognostic role of left ventricular systolic dysfunction in family screening for dilated cardiomyopathy and non‐dilated left ventricular cardiomyopathy

European Journal of Heart Failure, EarlyView.
Aims The prognostic significance of detecting left ventricular (LV) systolic dysfunction during family screening programmes (FSPs) in relatives of probands affected by dilated (DCM) and non‐dilated left ventricular (NDLVC) cardiomyopathies remain unclear.
Eva Del Mestre, Alessia Paldino, Carola Pio Loco Detto Gava, Ilaria Gandin, Marta Gigli, Davide Stolfo, Martina Setti, Giovanni Maria Severini, Beatrice Spedicati, Stefania Lenarduzzi, Giorgia Girotto, Alessandro Folgheraiter, Jacopo Giulio Rizzi, Renata Korcova, Luisa Mestroni, Marco Merlo, Matteo Dal Ferro, Gianfranco Sinagra   +17 more
wiley   +1 more source

Genetic Risk of Ankylosing Spondylitis and Second-Line Therapy Need in Crohn's Disease: A Mendelian Randomization Study. [PDF]

J Clin Med
Omar M, Omar M, Patt YS, Ukashi O, Sharif Y, Lahat A, Selinger CP, Sharif K.   +7 more
europepmc   +1 more source

Single-nucleotide human disease mutation inactivates a blood-regenerative GATA2 enhancer [PDF]

, 2019
Bresnick, Emery H, Cao, Miao, Choi, Kyunghee, Hofmann, Inga, Johnson, Kirby D, Keles, Sunduz, Liu, Peng, Mahta, Charu, Soukup, Alexandra A, Wu, Jun, Zhang, Jing, Zheng, Ye, Zhou, Yun   +12 more
core   +1 more source

Hypertrophic cardiomyopathy combined with renal and adrenal aplasia in a male with Noonan syndrome from RAF1 variant

ESC Heart Failure, EarlyView.
Ying Wang, Guizhou Ma, Dianyu Cai, Jierong Yao, Bingying Huang, Chaojian Wu, Xiaoling Liu, Zhixiong Cai   +7 more
wiley   +1 more source

Biomarkers of Parkinson's Disease. [PDF]

Ann Neurosci
Sahai A, Saxena K.
europepmc   +1 more source

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons, Marc A. Beal, Kerry L. Dearfield, George R. Douglas, Min Gi, B. Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Michelle Kenyon, Alexandra S. Long, David P. Lovell, Anthony M. Lynch, Meagan B. Myers, Stefan Pfuhler, Alisa Vespa, Andreas Zeller, George E. Johnson, Paul A. White   +17 more
wiley   +1 more source

Exploring antigenic variation in autoimmune endocrinopathy. [PDF]

Front Immunol
Mavridou M, Pearce SH.
europepmc   +1 more source

Genetic variants in the HLA-DQ2 and HLA-DQ8 genes and their involvement in the predisposition to celiac disease

Marisol Yamileth Álvarez-Cruz, Daniela Carrasco-Avilés, David Alejandro Ortega-Flores, Sahid Joaquín Rodríguez-Soto, Brissia Lazalde   +4 more
openalex   +1 more source