Results 111 to 120 of about 1,156,853 (299)

Positive effects of methylphenidate on hyperactivity are moderated by monoaminergic gene variants in children with autism spectrum disorders. [PDF]

, 2014
Methylphenidate (MPH) reduces hyperactive-impulsive symptoms common in children with autism spectrum disorders (ASDs), however, response and tolerability varies widely.
Aman, MG, Arnold, LE, Badashova, KK, Chuang, SZ, Davies, M, McCracken, JT, McDougle, CJ, Nurmi, EL, Posey, DJ, Scahill, L, Shah, B, Tierney, E, Vitiello, B, Whelan, F   +13 more
core  

Two Faces of NOTCH1 in Childhood Lymphoblastic T‐Cell Neoplasia: Prognostic Divergence of Mutational and Structural Aberrations

Pediatric Blood &Cancer, EarlyView.
ABSTRACT In pediatric patients, T‐cell lymphoblastic lymphoma (T‐LBL) survival exceeds 80%. Relapse remains associated with limited curative options. Frontline treatment is largely extrapolated from T‐cell acute lymphoblastic leukemia (T‐ALL) treatment, reflecting the ongoing debate, whether both entities represent distinct diseases or variants within ...
Marie C. Heider, Amelie Alfert, Marc Hotfilder, Birgit Burkardt, Marcel te Vrugt   +4 more
wiley   +1 more source

The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation

Genome Medicine
Background As clinical genetics evolves towards the broader field of clinical genomics, the diagnostic approach to rare diseases is undergoing a paradigm shift.
Anna Lindstrand, Kristina Lagerstedt-Robinson, Anders Jemt, Malin Kvarnung, Sofia Ygberg, Sofie Vonlanthen, Mikael Oscarson, Daniel Nilsson, Nicole Lesko, Angelo Salazar Mantero, Britt-Marie Anderlid, Henrik Arnell, Cecilia Arthur, Svetlana Bajalica-Lagercrantz, Michela Barbaro, Peter Bergman, Erik Björck, Oda Blomqvist Picard, Helene Bruhn, Jonas Carlsten, Sandrina P. Correia, Karl De Geer, Angelica M. Delgado Vega, Emma Ehn, Jesper Eisfeldt, Marlene Ek, Ingegerd Elvers, Martin Engvall, Christoph Freyer, Sofia Frisk, Caroline Graff, Giedré Grigelioniené, Peter Gustafsson, Anna Hammarsjö, Hafdis T. Helgadottir, Maritta Hellström Pigg, Olivia J. Henry, Moa Hägglund, Erik Iwarsson, Vincent Janvid, Maria Johansson Soller, Leif Sundin, Ekaterina Kuchinskaya, Anders Kämpe, Anna Leinfelt, Agne Liedén, Hillevi Lindelöf, Anna Lyander, Helena Malmgren, Maria Mannila, Per Marits, Karin Naess, Ramprasad Neethiraj, Karl Nyren, Christoforos Pappas, Martin Paucar, Nadja Pekkola Pacheco, Lucia Peña Perez, Maria Pettersson, Peter Pruisscher, Chiara Rasi, Annick Renevey, Sophia Rössner, Ellika Sahlin, Erik Stenund, Tommy Stödberg, Mikael Sundin, Karl Svärd, Bianca Tesi, Emma Tham, Håkan Thonberg, Virpi Töhönen, Malin Ueberschär, Karin Wallander, Eini Westenius, Johanna Winberg, Nerges Winblad, Josephine Wincent, Malin Winerdal, Anna Wredenberg, Anna Zetterlund, Rolf H. Zetterström, Ingegerd Öfverholm, Ann Nordgren, Henrik Stranneheim, Valtteri Wirta, Anna Wedell   +86 more
doaj   +1 more source

Multigene Panel Testing Reveals Novel Variants in Hereditary Spherocytosis Patients in Türkiye

Turkish Journal of Hematology
Objective: This study aimed to determine the genotypic characteristics of patients with hereditary spherocytosis (HS) in Türkiye and to examine the correlation between genotype and phenotype.
Ömer Doğru, Ceren Alavanda, Şenol Demir, Ahmet Koç, Pınar Ata   +4 more
doaj   +1 more source

Blinatumomab Utilization in Pediatric B‐Cell Acute Lymphoblastic Leukemia: Experience From the Mountain West

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Blinatumomab is a bispecific T‐cell engager approved for the treatment of pediatric B‐cell acute lymphoblastic leukemia (B‐ALL). Outpatient home infusion reduces hospitalization burden and optimizes resource utilization, but is logistically challenging.
Angela Parra del Riego, Kellee Parker, William C. Thomsen, James B. Ford, Mallorie B. Heneghan, David Spencer Mangum, Jennifer L. McNeer, Luke D. Maese, Claire E. F. Miller, Richard Lemons, Taumoha Ghosh   +10 more
wiley   +1 more source

Variant Interpretation for Cancer (VIC): a computational tool for assessing clinical impacts of somatic variants

Genome Medicine, 2019
Background Clinical laboratories implement a variety of measures to classify somatic sequence variants and identify clinically significant variants to facilitate the implementation of precision medicine.
Max M. He, Quan Li, Muqing Yan, Hui Cao, Yue Hu, Karen Y. He, Kajia Cao, Marilyn M. Li, Kai Wang   +8 more
doaj   +1 more source

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer. [PDF]

, 2019
Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk.
Aalfs, Cora M, ABCTB Investigators, Adank, Muriel A, Adlard, Julian, Agata, Simona, Agnarsson, Bjarni A, Ahearn, Thomas, Aittomäki, Kristiina, Ambrosone, Christine B, Andrews, Lesley, Anton-Culver, Hoda, Antonenkova, Natalia N, Arndt, Volker, Arnold, Norbert, Aronson, Kristan J, Arun, Banu K, Asseryanis, Ella, Auber, Bernd, Auvinen, Päivi, Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B, Barnes, Daniel R, Barrowdale, Daniel, Barwell, Julian, Beane Freeman, Laura E, Beauparlant, Charles Joly, Beckmann, Matthias W, Behrens, Sabine, Benitez, Javier, Berger, Raanan, Bermisheva, Marina, Blanco, Amie M, Blomqvist, Carl, Bogdanova, Natalia V, Bogliolo, Massimo, Bojesen, Anders, Bojesen, Stig E, Bolla, Manjeet K, Bonanni, Bernardo, Borg, Ake, Brady, Angela F, Brauch, Hiltrud, Brenner, Hermann, Brüning, Thomas, Burwinkel, Barbara, Buys, Saundra S, Cadoo, Karen, Caldés, Trinidad, Caleca, Laura, Caliebe, Almuth, Caligo, Maria A, Campa, Daniele, Campbell, Ian G, Canzian, Federico, Castelao, Jose E, Catucci, Irene, Chang-Claude, Jenny, Chanock, Stephen J, Claes, Kathleen BM, Clarke, Christine L, Collavoli, Anita, Conner, Thomas A, Cox, David G, Cybulski, Cezary, Czene, Kamila, Daly, Mary B, de la Hoya, Miguel, Dennis, Joe, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Dite, Gillian S, Ditsch, Nina, Domchek, Susan M, Dorfling, Cecilia M, Dos-Santos-Silva, Isabel, Durda, Katarzyna, Dwek, Miriam, Eccles, Diana M, Ekici, Arif B, Eliassen, A Heather, Ellberg, Carolina, Eriksson, Mikael, Evans, D Gareth, Fasching, Peter A, Figlioli, Gisella, Figueroa, Jonine, Flyger, Henrik, Foulkes, William D, Friebel, Tara M, Friedman, Eitan, Gabrielson, Marike, Gaddam, Pragna, Kiiski, Johanna I, Lasheras, Sandra Viz, Leslie, Goska, Michailidou, Kyriaki, Muranen, Taru A, Pujol, Roser   +99 more
core  

Clinical and Biological Features of Response in Resistant Neuroblastoma to 131I‐Metaiodobenzylguanidine Radiotherapy in the Anti‐GD2 Immunotherapy Era

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background 131I‐metaiodobenzylguanidine (131I‐MIBG) radiotherapy is a key treatment for relapsed and refractory (R/R) neuroblastoma (NB). Patients with R/R disease treated in the modern era are increasingly exposed to anti‐GD2 immunotherapy, which exerts selective pressure and may modify both tumor cell state and microenvironment.
Benjamin J. Lerman, Katherine K. Matthay, Fabienne Hollinger, Catriona Black, Ann A. Lazar, Miguel Pampaloni, Steven G. DuBois, Kieuhoa T. Vo   +7 more
wiley   +1 more source

GRIN2B-related neurodevelopmental disorders: genotype-phenotype correlations and therapeutic implications

Orphanet Journal of Rare Diseases
Background Pathogenic variants in GRIN2B are predominantly associated with neurodevelopmental disorders (NDDs). However, our understanding of the genotype-phenotype correlations and the optimal treatment strategies is limited.
Changning Xie, Miriam Kessi, Fangyun Liu, Fang He, Jing Peng   +4 more
doaj   +1 more source

Fetal Brain Tumor Harboring a Unique ROCK1::BRAF Fusion

Pediatric Blood &Cancer, EarlyView.
Marllon Cindra Sant'Ana, Mariana Maschietto, Daniela Paz Leal, Ricardo de Santos de Oliveira, Mayara Ferreira Euzébio, Antonio Carlos dos Santos, Luciano Neder, Carlos Alberto Scrideli, Elvis Terci Valera   +8 more
wiley   +1 more source