Results 71 to 80 of about 5,647,381 (313)

Genetic determinants of cortical structure (thickness, surface area and volumes) among disease free adults in the CHARGE Consortium [PDF]

, 2019
Cortical thickness, surface area and volumes (MRI cortical measures) vary with age and cognitive function, and in neurological and psychiatric diseases.
Adams, H., Ahmad, S., Ames, D., Amin, N., Amouye, P., Andreassen, O., Armstrong, N., Bastin, M., Becker, J., Beiser, A., Bernard, M., Beyer, F., Bis, J., Bralten, J., Brodaty, H., Bülow, R., Carmichael, O., Colodro-Conde, L., Crivello, F., Dale, A., Deary, I., Debette, S., DeCarli, C., Fornage, M., Franz, C., Gillespie, N., Grabe, H., Grasby, K., Harris, M., Hibar, D., Himali, J., Hofer, E., Hofman, A., Ikram, M., Jahanshad, N., Jian, X., Jiang, J., Karama, S., Knol, M., Kremen, W., Kwok, J., Lewis, L., Li, S., Lin, H., Lind, P., Loeffler, M., Logue, M., Longstreth Jr., W., Lopez, O., Luciano, M., Lyons, M., Maillard, P., Maingault, S., Mather, K., Mazoyer, B., Medland, S., Mishra, A., Mosley, T., Neale, M., Niessen, W., Painter, J., Panizzon, M., Paus, T., Pausova, Z., Pike, G., Pirpamer, L., Pizzagalli, F., Psaty, B., Roshchupkin, G., Rotter, J., Saba, Y., Sachdev, P., Satizabal, C., Schmid, R., Schmidt, H., Schofield, P., Scholz, M., Seiler, S., Seshadr, S., Stein, J., Teumer, A., Thalamuthu, A., Thompson, P., Trollor, J., Tzourio, C., Uitterlinden, A., van der Lee, S., van Duijn, C., Vernooij, M., Villringer, A., Völker, U., Wardlaw, J., Wen, W., Witte, A., Wittfeld, K., Wright, M., Xia, R., Yang, Q., Zare, H.   +98 more
core   +2 more sources

Prognostic Impact of Treatment Modalities, Including Targeted Compartmental Radio‐Immunotherapy, in a Cohort of Neuroblastoma Patients With CNS Metastases at Relapse

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Neuroblastoma (NB) with central nervous system (CNS) metastases is rare at diagnosis, but occurs more often during relapse/progression. Patients with CNS metastases face a dismal prognosis, with no standardized curative treatment available.
Vicente Santa‐Maria Lopez, Anna Felip‐Badia, Marina Caballero‐Bellon, Nazaret Sanchez‐Sierra, Alicia Castañeda, Moira Garraus, Maite Gorostegui, Margarida Simão‐Rafael, Juan Pablo Muñoz, Marta Perez‐Somarriba, Salvador Mañe, Mariana Cecilia Planells, Sara Perez‐Jaume, Jaume Mora   +13 more
wiley   +1 more source

Rapid and inexpensive body fluid identification by RNA profiling-based multiplex High Resolution Melt (HRM) analysis [v1; ref status: indexed, http://f1000r.es/2hj]

F1000Research, 2013
Positive identification of the nature of biological material present on evidentiary items can be crucial for understanding the circumstances surrounding a crime.
Erin K. Hanson, Jack Ballantyne
doaj   +1 more source

Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA) [PDF]

, 2009
Background: In this study we aimed to evaluate the role of a SNP in intron 1 of the ERCC4 gene (rs744154), previously reported to be associated with a reduced risk of breast cancer in the general population, as a breast cancer risk modifier in BRCA1 and ...
A Allavena, A Antoniou, A B Spurdle, A C Antoniou, A E Toland, A K Godwin, A Meindl, A Miron, A Osorio, A Osorio, A van den Ouweland, A Viel, A-C Spiess, A-M Gerdes, AC Antoniou, AC Antoniou, B Arver, B Fiebig, B Kaufman, B Malmer, B Versmold, C Casella, C Cassini, C Engel, C F Singer, C I Szabo, C Kiyohara, C Luccarini, C T Oliver, D F Easton, D Ford, D Frost, D G Cruger, D G Evans, D Goldgar, D Gschwantler-Kaulich, D Muller, D Niederacher, D Schaefer, D Stoppa-Lyonnet, D Yannoukakos, DF Easton, DF Easton, E Dagan, E Friedman, E M John, E N Imyanitov, EB Gómez García, F B L Hogervorst, F Douglas, F J Couch, F Lalloo, F Lejbkowicz, F Révillion, G C Rodriguez, G Chenevix-Trench, G Chenevix-Trench, G Pfeiler, G Pichert, G Pita, G Rennert, H Deißler, H Jernström, H Nevanlinna, H Ozcelik, H T Lynch, I L Andrulis, J Basil, J Beesley, J Benítez, J Brunet, J Cook, J F Boggess, J L Hopper, J Simard, J T Wijnen, J-P Fricker, J-P Peyrat, K Claes, K Kosarin, K L Nathanson, K Lange, K Offit, K Wakeley, L Barjhoux, L Foretova, L McGuffog, L Olivier-Faivre, L Tizzoni, LE Mechanic, M A Caligo, M B Terry, M Barile, M Cook, M Daly, M de la Hoya, M Garcia-Closas, M H Greene, M Montagna, M Piedmonte, M S Askmalm, M Thomassen, M Zikan, MM Gaudet, N Arnold, N Ditsch, N Lindor, N Weerasooriya, O Barnett-Griness, O M Sinilnikova, O T Johannsson, P E Schwartz, P J Morrison, P Mai, P Peterlongo, P Radice, R Eeles, R Gershoni-Baruch, R K Schmutzler, R L Milne, R Varon-Mateeva, RL Milne, RL Milne, S Buys, S Chen, S Cohen, S Giraud, S Healey, S Hodgson, S Hooker, S L Neuhausen, S M Domchek, S Manoukian, S Peock, S V Blank, S Verhoef, T Caldes, T Heikkinen, T Kirchhoff, T Kontorovich, T Ramón y Cajal, Thomas v O Hansen, TR Smith, U G Froster, U Hamann, V Moncoutier, V Moreno, X Chen, X Wang, Y C Ding, Y Laitman, Y Yassin   +151 more
core   +4 more sources

Pathogenic Germline PALB2 and RAD50 Variants in Patients With Relapsed Ewing Sarcoma

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Approximately 10% of patients with Ewing sarcoma (EwS) have pathogenic germline variants. Here, we report two cases: first, a novel germline pathogenic variant in partner and localizer of BRCA2 (PALB2) in a patient with a late EwS relapse. Its impact on homologous recombination is demonstrated, and breast cancer risk is discussed.
Molly Mack, A. Carolina Tufino, Mohd Azrin Jamalruddin, Sreya Dey, Yinghong Pan, Elina Mukherjee, Jessica D. Daley, Julia Meade, Mahmoud Aarabi, Lisa Maurer, James Cooper, Kara A. Bernstein, Kelly M. Bailey   +12 more
wiley   +1 more source

Medical genetics teaching in Iranian medical schools, especially Ahvaz, south of Iran

Journal of Advances in Medical Education and Professionalism, 2014
Introduction: Physicians have to visit, diagnose and refer patients with genetic disorders, so they need to be familiar with the basics and indications of genetic tests.
MAHDI BIJANZADEH
doaj  

Texas Physicians\u27 Awareness and Utilization of Genetic Services [PDF]

, 2015
The number of disorders for which genetic testing is available has increased nearly 500% in the past 15 years. Access to the majority of genetic tests and services hinges on physicians’ ability to identify patients at risk for genetic disease and provide
Jenevein, Callie L
core   +1 more source

Patient‐Level Barriers and Facilitators to Inpatient Physical Therapy in Adolescents and Young Adults With a Hematological Malignancy: A Qualitative Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Despite their increased risk for functional impairment resulting from cancer and its treatments, few adolescents and young adults (AYAs) with a hematological malignancy receive the recommended or therapeutic dose of exercise per week during inpatient hospitalizations.
Jennifer A. Kelleher, Jennifer L. Bernstein, Katia M. Crisler, Julia K. Herriott, Kimberly L. Klages, Robin E. Norris, Mariann L. Strenk, Sarah E. Bills, Meghan E. McGrady   +8 more
wiley   +1 more source

Prioritising the Pipeline: Updating Undergraduate Medical Genetics Education to Support the Future of Genomic Medicine in Australia

Australian Journal of Clinical Education
Advances in genomic medicine are transforming modern healthcare, with genetics playing an increasingly integral role across multiple medical specialties.
Kelsey Walsh
doaj   +1 more source

Genetic Factors in Febrile Seizures

Pediatric Neurology Briefs, 1992
Population based twin panels containing 14,352 twin pairs established in Norway and Virginia were used to study the occurrence of febrile seizures and epilepsy at the Departments of Human Genetics and Neurology, Medical College of Virginia, Virginia ...
J Gordon Millichap
doaj   +1 more source