Results 41 to 50 of about 67,683 (260)

Personalized Selumetinib Dosing in Pediatric Neurofibromatosis Type 1: Insights From a Pilot Therapeutic Drug Monitoring Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Objective To evaluate selumetinib exposure using therapeutic drug monitoring (TDM) in pediatric patients with neurofibromatosis type 1 (NF1) and plexiform neurofibromas (PN), assess interpatient pharmacokinetic variability, and explore the relationship between drug exposure, clinical response, and adverse effects.
Janka Kovács, Zoltán Köllő, Balázs Gellért Karvaly, Mahmoud Obeidat, Rita Nagy, Péter Hegyi, Brigitta Teutsch, Eszter Tuboly, Miklós Garami   +8 more
wiley   +1 more source

Neurofibromatosis Type 1 in Ecuador: genotype-phenotype correlations from a case series

Medwave
Introduction Neurofibromatosis type 1 (NF1) is a multisystemic genetic disorder caused by pathogenic variants in the gene, characterized by variable clinical manifestations such as pigmentary abnormalities, neurofibromas, skeletal dysplasia, and tumor ...
Elius Paz-Cruz, Patricia Guevara-Ramirez, Arianne Llamos Paneque, Emily Onofre, Christian Rivas Iglesias, Santiago Cadena-Ullauri, Rafael Tamayo-Trujillo, Viviana A. Ruiz-Pozo, Daniel Simancas-Racines, Ana Karina Zambrano   +9 more
doaj   +1 more source

Congenital anomalies in neurofibromatosis 1: a retrospective register-based total population study

Orphanet Journal of Rare Diseases, 2018
Background Neurofibromatosis type 1 (NF1) is a dominantly inherited Rasopathy caused by mutations in the NF1 gene on chromosome 17. NF1 has been connected to congenital anomalies, e.g., in the skeletal and cardiovascular systems, but the overall ...
Jussi Leppävirta, Roope A. Kallionpää, Elina Uusitalo, Tero Vahlberg, Minna Pöyhönen, Juha Peltonen, Sirkku Peltonen   +6 more
doaj   +1 more source

Measuring the Angular Correlation Function for Faint Galaxies in High Galactic Latitude Fields [PDF]

, 1997
A photometric survey of faint galaxies in three high Galactic latitude fields (each $\sim49~\rm{arcmin^{2}}$) with sub-arcsecond seeing is used to study the clustering properties of the faint galaxy population.
Abraham R. A., Babul A., Barrow J. D., Brainerd T. G., Broadhurst T. J., Colless M. M., Colless M. M., Couch W. J., Fisher K. B., Glazebrook K., Guiderdoni B., Lidman C. E., Maddox S. J., Melott A. L., Metcalfe N., Metcalfe N., Phillipps S., Pritchet C. J., Roche N., Roche N., Roukema B. F., Roukema B. F., Saunders W., Smail I., Stevenson P. R. F., Yoshii Y.   +25 more
core   +3 more sources

Evaluating the Utility of Paired Tumor and Germline Targeted DNA Sequencing for Pediatric Oncology Patients: A Single Institution Report

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield and utility of universal paired tumor–normal multigene panel sequencing in newly diagnosed pediatric solid and central nervous system (CNS) tumor patients and to compare the detection of germline pathogenic/likely pathogenic variants (PV/LPVs) against established clinical referral criteria for cancer ...
Natalie Waligorski, Rebecca Ronsley, Shannon M. Stasi, Jeffrey Stevens, Erin R. Rudzinski, Christina M. Lockwood, Sarah E. S. Leary, Bonnie L. Cole, Michelle A. Ting, Vera Paulson   +9 more
wiley   +1 more source

Molecular and Clinical Overview of Type 1 Neurofibromatosis: Single Center Study and Mini Review on NF1-Associated Vasculopathy and Juvenile Myelomonocytic Leukemia

Gazi Medical Journal
Objective: Neurofibromatosis type 1 (NF1) is a genetic disorder presenting primary with variable patterns of skin pigmentation, neurofibromas and iris Lisch nodules.
Şule Altıner, Alper Han Çebi
doaj   +1 more source

An extended Falicov-Kimball model on a triangular lattice

, 2010
The combined effect of frustration and correlation in electrons is a matter of considerable interest of late. In this context a Falicov-Kimball model on a triangular lattice with two localized states, relevant for certain correlated systems, is ...
A. Taraphder, Ezhov S. Yu., Ishwar Singh, Simon A., T. Maitra, Umesh K. Yadav, Yadav Umesh K.   +6 more
core   +1 more source

Activation of MAPK signalling results in resistance to saracatinib (AZD0530) in ovarian cancer [PDF]

, 2017
SRC tyrosine kinase is frequently overexpressed and activated in late-stage, poor prognosis ovarian tumours, and preclinical studies have supported the use of targeted SRC inhibitors in the treatment of this disease.
El-Helali, Aya, Kennedy, Richard D., McCabe, Nuala, McGivern, Niamh, Mcneish, Iain A., Mullan, Paul, Paul Harkin, D   +6 more
core   +2 more sources

Organoids in pediatric cancer research

FEBS Letters, EarlyView.
Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley   +1 more source

Dual gene activation and knockout screen reveals directional dependencies in genetic networks. [PDF]

, 2018
Understanding the direction of information flow is essential for characterizing how genetic networks affect phenotypes. However, methods to find genetic interactions largely fail to reveal directional dependencies. We combine two orthogonal Cas9 proteins
Biton, Anne, Blau, James A, Boettcher, Michael, Fu, Haian, Kampmann, Martin, Markegard, Evan, McCormick, Frank, McManus, Michael T, Mo, Xiulei, Tian, Ruilin, Wagner, Ryan T, Wu, David, Zaitlen, Noah   +12 more
core   +2 more sources