Results 31 to 40 of about 10,831,444 (295)

Technical standards for the interpretation and reporting of constitutional copy number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

Genetics in Medicine, 2019
Copy-number analysis to detect disease-causing losses and gains across the genome is recommended for the evaluation of individuals with neurodevelopmental disorders and/or multiple congenital anomalies, as well as for fetuses with ultrasound ...
E. Riggs, Erica F Andersen, A. Cherry, S. Kantarci, H. Kearney, Ankita Patel, G. Raca, D. Ritter, S. South, E. Thorland, D. Pineda-Alvarez, S. Aradhya, C. Martin   +12 more
semanticscholar   +1 more source

Retinoblastoma genetics screening and clinical management

BMC Medical Genomics, 2021
Background India accounts for 20% of the global retinoblastoma (RB) burden. However, the existing data on RB1 gene germline mutations and its influence on clinical decisions is minimally explored.
Himika Gupta, Sivasankar Malaichamy, Ashwin Mallipatna, Sakthivel Murugan, Nallathambi Jeyabalan, Vishnu Suresh Babu, Anuprita Ghosh, Arkasubhra Ghosh, Sam Santhosh, Somasekar Seshagiri, Vedam L. Ramprasad, Govindasamy Kumaramanickavel   +11 more
doaj   +1 more source

Assessing Medical Students’ Knowledge of Genetics: Basis for Improving Genetics Curriculum for Future Clinical Practice

Advances in Medical Education and Practice, 2021
Amal A Alotaibi, Mary Anne W Cordero Basic Science Department, College of Medicine, Princess Nourah Bint Abdulrahman University, Riyadh, 11671, Kingdom of Saudi ArabiaCorrespondence: Mary Anne W CorderoBasic Science Department, College of Medicine ...
Alotaibi AA, Cordero MAW
doaj  

The HIT Network for Children and Adolescents With CNS Tumors Facilitates Improvements of Diagnostic Assessments, Multimodal Treatments, Individual Counseling, and Research in Germany, Austria, and Switzerland

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background The HIT network was established in 2000 to create a population‐based structure aiming to improve survival rates and reduce late effects for children with central nervous system (CNS) tumors by conducting comprehensive clinical trials.
Stefan Rutkowski, Michael C. Frühwald, Gudrun Fleischhack, Stephan Tippelt, Pablo Hernáiz‐Driever, Olaf Witt, Astrid Gnekow, Christof Kramm, Matthias Eyrich, Johannes E. A. Wolf, Hermann Müller, Carsten Friedrich, Uwe R. Kordes, Denise Obrecht‐Sturm, Petra Ketteler, Barbara von Zezschwitz, Pascal Johann, Dominik Sturm, Karoline Nemes, Stefan Schönberger, Till Milde, Brigitte Bison, Monika Warmuth‐Metz, Torsten Pietsch, Ulrich Schüller, Arend Koch, David Capper, Martin Hasselblatt, Christian Thomas, Christian Hagel, Stefan M. Pfister, Felix Sahm, David T. W. Jones, Martin U. Schuhmann, Jürgen Krauss, Pedram Emami, Ahmed El Damaty, Rolf D. Kortmann, Rudolf Schwarz, Jürgen Debus, Mechthild Krause, Fabian Pohl, Holger Ottensmeier, Lisa Bußenius, Katja Baust, Andreas Faldum, Cecile Ronckers, Desiree Grabow, Martin Benesch, Thomas Perwein, Karin Dieckmann, Irene Slavc, Johannes Gojo, Nicolas U. Gerber, André O. von Bueren, Katrin Scheinemann, Gabriele Calaminus, Beate Timmermann, Ulrich‐Wilhelm Thomale, Martin Mynarek   +59 more
wiley   +1 more source

Stressful Events Reported by Childhood Cancer Survivors and Community Controls From the St. Jude Lifetime (SJLIFE) Cohort: A Mixed Method Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Characterizing stressful events reported by childhood cancer survivors experienced throughout the lifespan may help improve trauma‐informed care relevant to the survivor experience. Methods Participants included 2552 survivors (54% female; 34 years of age) and 469 community controls (62% female; 33 years of age) from the St.
Megan E. Ware, Colter K. Clayton, Fang Wang, Sedigheh Mirzaei, Kyla Shelton, Tara M. Brinkman, Victoria Willard, Katianne M. Howard Sharp, Kevin Krull, Lindsay F. Schwartz, Melissa M. Hudson, Gregory T. Armstrong, Kirsten K. Ness, Rachel T. Webster   +13 more
wiley   +1 more source

LncRNA-Top: Controlled deep learning approaches for lncRNA gene regulatory relationship annotations across different platforms

iScience, 2023
Summary: By soaking microRNAs (miRNAs), long non-coding RNAs (lncRNAs) have the potential to regulate gene expression. Few methods have been created based on this mechanism to anticipate the lncRNA-gene relationship prediction.
Weidun Xie, Xingjian Chen, Zetian Zheng, Fuzhou Wang, Xiaowei Zhu, Qiuzhen Lin, Yanni Sun, Ka-Chun Wong   +7 more
doaj   +1 more source

Utility of Computed Tomography Surveillance of Asymptomatic Infection in Children and Young Adults Before Allogeneic Hematopoietic Stem Cell Transplant

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Asymptomatic infection poses a significant risk for children undergoing hematopoietic stem cell transplantation (HSCT). Pre‐transplant surveillance computed tomography (CT) is commonly used to identify occult infection, though its diagnostic yield remains uncertain.
Tyler Obermark, Pradipta Debnath, Rama S. Ayyala, Lara A. Danziger‐Isakov, Jane Koo, Kasiani C. Myers, William R. Otto, Aki Tanimoto, Andrew T. Trout, Cara E. Morin   +9 more
wiley   +1 more source

Genetic risk model for in-stent restenosis of second-and third-generation drug-eluting stents

iScience, 2021
Summary: The new generation, i.e., second- and third-generation, drug-eluting stents (DESs) remain a risk of in-stent restenosis (ISR). We evaluated the power of a genetic risk score (GRS) model to identify high-risk populations for new generation DES ...
Yen-Wen Liu, Mu-Shiang Huang, Ling-Wei Hsu, Hsien-Yuan Chang, Cheng-Han Lee, Chi-Ying Lee, Dao-Peng Chen, Yi-Heng Li, Ting-Hsin Chao, Pei-Fang Su, Meng-Ru Shen, Ping-Yen Liu   +11 more
doaj   +1 more source

Unheard and Under‐Supported: Health‐Related Quality of Life in Children, Adolescents, and Young Adults With Sickle Cell Disease

Pediatric Blood &Cancer, EarlyView.
Abstract Background Sickle cell disease (SCD) is an autosomal recessive hemoglobinopathy affecting millions of individuals worldwide. The clinical expression and psychosocial burden of SCD vary widely across geographical, cultural, and healthcare system contexts, underscoring the need for setting‐specific approaches to assessment.
Desiré Fantasia, Giulia Reggiani, Elizabeth J. Maran, Maria Elisa Delle Fave, Ilaria Baido, Anna Chiara Frigo, Maria Paola Boaro, Raffaella Colombatti   +7 more
wiley   +1 more source

Association of MTHFR C677T and A1298C gene polymorphisms with methotrexate efficiency and toxicity in Algerian rheumatoid arthritis patients

Heliyon, 2017
Methotrexate (MTX) is the most used drug in rheumatoid arthritis (RA) treatment. However, it shows variability in clinical response, which is explained by an association with genetic polymorphisms.
Lilya M. Berkani, Fadia Rahal, Ines Allam, Soraya Mouaki Benani, Aïcha Laadjouz, Reda Djidjik   +5 more
doaj   +1 more source