Results 211 to 220 of about 98,067 (307)
Unique hematological presentation of patients with biallelic inactivation of FANCD1/BRCA2. [PDF]
Blood AdvNiewisch MR, Dierolf M, Herba AB, Thol F, Reimann C, Popp I, Holzhauer S, Behrens YL, Rohde M, Leyh J, Kühnle I, Dilloo D, Stiefel M, Schwarz-Furlan S, Baumann I, Kalb R, Kratz CP. +16 moreeuropepmc +1 more sourceClinical, Genetic, and Pathologic Variability in Myelodysplastic Syndromes and Precursor Conditions Across Race, Ethnicity, and Sex
American Journal of Hematology, Volume 101, Issue 6, Page 1407-1420, June 2026.ABSTRACT
The epidemiology of myelodysplastic syndromes/neoplasms (MDS) is challenging to define due to inconsistent reporting, complex diagnostic procedures, and evolving diagnostic criteria. Using the National MDS Natural History Study—a prospective cohort with centrally adjudicated histopathology and genetic variant review—we characterized the ...Nancy Gillis, Christelle Colin‐Leitzinger, Yi‐Han Tang, Michael Otterstatter, Seth Sherman, Ling Zhang, Lynn C. Moscinski, Mary Ellen Walker, Jeffrey S. Painter, Gregory A. Abel, Tareq Al Baghdadi, H. Joachim Deeg, James M. Foran, Steven D. Gore, Alexandra M. Harrington, Steven H. Kroft, Jane Jijun Liu, Wael Saber, Shamsuddin Virani, Rafael Bejar, R. Coleman Lindsley, Eric Padron, Matthew J. Walter, Rami Komrokji, Amy E. DeZern, Mikkael A. Sekeres +25 morewiley +1 more sourceGenetic Abnormalities and Clinical Management of Fetal Genitourinary System Anomalies in Eastern China
American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1362-1371, June 2026.ABSTRACT
To investigate the correlation between genetic abnormalities and fetal genitourinary (GU) anomalies in Eastern China and to provide assistance for the clinical management of fetuses with different types of GU anomalies. Five hundred forty‐five fetuses with GU anomalies were enrolled, undergoing karyotyping, copy number variation sequencing ...Jie Liang, Jiebin Wu, Lin Zhang, Yunmeng Qi, Yi Wang, Xu Cao, Jingfang Zhai +6 morewiley +1 more sourceCirculating tumor cells predict myeloma outcomes in patients treated with daratumumab, bortezomib, lenalidomide, and dexamethasone.
BloodBertamini L, Fokkema C, Rodriguez-Otero P, van Duin M, Terpos E, D'Agostino M, van der Velden VHJ, van de Donk NWCJ, Delforge M, Driessen C, Hajek R, Einsele H, Vangsted A, Vieyra D, Attar R, Sitthi-Amorn A, Carson R, Schjesvold F, Robak P, Beksac M, Spencer A, Broijl A, Cupedo T, Moreau P, Boccadoro M, Sonneveld P. +25 moreeuropepmc +1 more sourceFacilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow
American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1273-1285, June 2026.ABSTRACT
Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.Mackenzie Mosera, Samantha Stover, Elise Boos, Molly Casey, Joseph Fanning, Chelsea Fechter, Matthew Grace, L. Dupree Hatch, Michaela Ibach, Carla Jackson, Jiancong Liang, Caitlin Mann, Emily A. Morris, Jessica Turnbull, Marie Williams, Bryce A. Schuler +15 morewiley +1 more sourceComprehensive analysis of copy number variations in congenital heart defects Tunisian patients: chromosomal microarray analysis insights. [PDF]
Mol CytogenetKhelifi R, Othmane H, Ajmi H, Slimani W, Bennour A, Dardour L, Soyeh N, Benzarti A, Rjiba K, Abdallah HH, Rassass A, Kooli R, Mghirbi O, Kammoun M, Khelifa HB, Bahri F, Hayet M, Ammar A, Ghanmi S, Mathlouthi J, Ben Hamida H, Habboul Z, Kemis T, Kharrat H, Hassine N, Tej A, Bellalah M, Chouikh F, Houssine M, Mahdhaoui A, Kortas C, Guith A, Maatouk F, Naffeti E, Soua H, Gribaa M, Saad A, Mougou-Zerelli S. +37 moreeuropepmc +1 more sourceIntegrating polygenic and methylation risk scores for pleural mesothelioma risk stratification
International Journal of Cancer, Volume 158, Issue 11, Page 2866-2879, 1 June 2026.What's new?
Asbestos exposure is a major risk factor for pleural mesothelioma (PM). Most asbestos‐exposed individuals do not develop PM, suggesting that it arises from a complex interplay between environmental and genetic factors. This study examined the utility of polygenic risk scores (PRS) and methylation risk scores (MRS) in incorporating genetic ...Khadija Sana Hafeez, Carla Debernardi, Alessandra Allione, Elton Jalis Herman, Simonetta Guarrera, Daniela Ferrante, Anna Aspesi, Marika Sculco, Marta La Vecchia, Carlotta Sacerdote, Federica Grosso, Christina M. Lill, Giovanna Masala, Marcela Guevara, Matthias B. Schulze, Salvatore Panico, Yazdan Asgari, Seehyun Park, Giovanna Tagliabue, Anne Tjønneland, Antonio Agudo, Elisabete Weiderpass, Corrado Magnani, Irma Dianzani, Paolo Vineis, Elisabetta Casalone, Giuseppe Matullo +26 morewiley +1 more source