Results 131 to 140 of about 43,589 (247)

Proxies of Cognitive Reserve and Association With Cognitive Decline and Dementia in Aging Adults With Down Syndrome

Journal of Policy and Practice in Intellectual Disabilities, Volume 23, Issue 2, June 2026.
ABSTRACT Unquestionably, with the increase in life expectancy, dementia has become a significant health issue in Down syndrome (DS). However, in at least a subset of these individuals, cognitive aging can be considered normal, with absence of dementia symptoms even in the presence of Alzheimer's neuropathology.
Livea Carla F. G. Sant'Ana, Aline S. G. G. Conceição, Luciana M. Fonseca, Orestes V. Forlenza   +3 more
wiley   +1 more source

Prognostic impact of ASXL1 mutations in acute myeloid leukemia treated with lower intensity therapy

Cancer, Volume 132, Issue 10, 15 May 2026.
Abstract Background ASXL1 mutations (ASXL1MUT) are common in acute myeloid leukemia (AML) and have historically conferred an adverse prognosis with intensive chemotherapy. Given the increasing use of venetoclax (VEN)‐based lower intensity therapy (LIT), the European LeukemiaNet introduced a four‐gene genetic risk classifier in 2024 that categorizes ...
Jennifer Marvin‐Peek, Courtney D. DiNardo, Sanam Loghavi, Farhad Ravandi, Gautam Borthakur, Naval G. Daver, Tapan M. Kadia, Elias Jabbour, Andrew Dunbar, Guilin Tang, Nicholas J. Short, Fadi G. Haddad, Hussein A. Abbas, Eitan Kugler, Abhishek Maiti, Ghayas C. Issa, Koichi Takahashi, Kapil Bhalla, Naveen Pemmaraju, Yesid Alvarado, Elizabeth J. Shpall, Uday Popat, Jeremy Ramdial, Richard E. Champlin, Hagop M. Kantarjian, Guillermo Garcia‐Manero, Jayastu Senapati   +26 more
wiley   +1 more source

The impact of chromosomal translocation locus and fusion oncogene coding sequence in synovial sarcomagenesis. [PDF]

, 2016
Synovial sarcomas are aggressive soft-tissue malignancies that express chromosomal translocation-generated fusion genes, SS18-SSX1 or SS18-SSX2 in most cases.
Barrott, JJ, Cairns, BR, Capecchi, MR, Ding, L, Haldar, M, Jin, H, Jones, KB, Langer, EM, Monument, MJ, Mosbruger, TL, Randall, RL, Wilson, RK, Xie, M, Zhu, J-F   +13 more
core  

Cancer Incidence in People With Intellectual Disability and Down Syndrome in Australia: A Cohort Study

Cancer Medicine, Volume 15, Issue 5, May 2026.
ABSTRACT Objective There is inconsistent data on cancer risk in people with intellectual disability. Our primary objective was to compare the incidence of cancer in people with and without intellectual disability. Methods and Analysis A cohort study using linked population‐based administrative and cancer registry data in New South Wales, Australia 2001–
Julian Trofimovs, Claire M. Vajdic, Preeyaporn Srasuebkul, Sallie‐Anne Pearson, Julian N. Trollor   +4 more
wiley   +1 more source

Chronic lymphocytic leukemia with IGH::BCL3‐translocation is characterized by a homogeneous and distinct genetic and epigenetic landscape

HemaSphere, Volume 10, Issue 5, May 2026.
Abstract Approximately 1% of chronic lymphocytic leukemia (CLL) cases harbor a translocation juxtaposing the immunoglobulin heavy chain (IGH) and B‐cell lymphoma 3 (BCL3) loci. Aiming at comprehensive molecular characterization of IGH::BCL3‐positive B‐cell neoplasms, we here investigated samples from 84 patients using fluorescence in situ hybridization
Cosima Drewes, Cristina López, Juan Emilio Martinez‐Manjón, Nnamdi Okeke, Billy Jebaraj, Susanne Bens, Björn Brändl, Martin J. S. Dyer, Barbara Eichhorst, Anja Fischer, Kirsten Fischer, Sandra Robrecht, Michael Hallek, Selina Glaser, Sina Hillebrecht, Sandrine Jayne, Helene Kretzmer, Anja Mottok, Franz‐Josef Müller, Christof Schneider, Ole Ammerpohl, Coral del Val, Stephan Stilgenbauer, Eugen Tausch, Reiner Siebert   +24 more
wiley   +1 more source

Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 669-686, May 2026.
ABSTRACT Objective To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this. Methods Clinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society.
Ida Vogel, Lotte Andreasen, Marie Balslev‐Harder, Naja Becher, Anja Ernst, Kasper Gadsbøll, Tina Duelund Hjortshøj, Marie Skov Hvidbjerg, Martin Larsen, Stina Lou, Ida Charlotte Bay Lund, Lars Henning Pedersen, Laura Kirstine Sønderberg Roos, Lene Sperling, Lone Sunde, Pernille Mathiesen Tørring, Cathrine Vedel, Olav Bjørn Petersen   +17 more
wiley   +1 more source

Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 636-642, May 2026.
ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas, Laia Rodriguez‐Revenga, Montse Pauta, Alfons Nadal, Gemma Arca, Laura Gort, Stiven Ernesto Sinisterra‐Díaz, Antoni Borrell   +7 more
wiley   +1 more source

Quantifying the resolution of spatial and temporal representation in children with 22q11.2 deletion syndrome. [PDF]

, 2019
ObjectivesOur ability to generate mental representation of magnitude from sensory information affects how we perceive and experience the world. Reduced resolution of the mental representations formed from sensory inputs may generate impairment in the ...
Amato, Michele, Cabaral, Margarita H, Cruz, Joshua, Durdle, Courtney, Harvey, Danielle, McCabe, Kathryn L, Popa, Abbie M, Simon, Tony J, Tartaglia, Nicole, Wong, Ling M   +9 more
core   +1 more source

Diagnosed After Birth—But Detectable Before? A Cohort Study of Prenatal Testing Potential

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 904-913, May 2026.
ABSTRACT Objective To evaluate the yield of prenatal genetic testing in infants with a confirmed genetic diagnosis. Methods We retrospectively reviewed records of infants with a genetic diagnosis who were evaluated using a standardized genetic consult and testing approach. The predicted yield of various prenatal genetic sceening and diagnostic tools in
Allison Schartman, Olivia Woods, Leah Wetherill, Amy M. Breman, Benjamin M. Helm, Kristen Suhrie, Kristyne Stone   +6 more
wiley   +1 more source

The EUROmediCAT Network and Databases: A Resource for Pharmacovigilance in Pregnancy

Pharmacoepidemiology and Drug Safety, Volume 35, Issue 5, May 2026.
ABSTRACT Background The evidence gap relating to the risk of congenital anomalies (CA) associated with first trimester medication exposure in pregnancy is well recognized. Aims We describe the EUROmediCAT network and databases, and the methodological approach to pregnancy pharmacovigilance.
Helen Dolk, Christine Damase‐Michel, Joan Morris, Amanda Neville, Ester Garne, Sue Jordan, Anke Rissmann, Alessio Coi, Deirdre Folan, Dieuwke Broekstra, Jennifer M. Broughan, Lea Bruneau, Clara Cavero‐Carbonell, Elly den Hond, Miriam Gatt, Mika Gissler, Babak Khoshnood, Anna Latos Bielenska, Hedvig Nordeng, Ljubica Odak, Mary O'Mahony, Isabelle Perthus, J. Luke Richardson, Florence Rouget, Joanna Sichitiu, David Tucker, Natalya Zymak‐Zakutnya, Maria Loane   +27 more
wiley   +1 more source