Results 241 to 250 of about 5,362,679 (291)

Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval

Clinical Genetics, Volume 110, Issue 4, Page 438-448, October 2026.
This study reports a female proband with a de novo 9q34.11 deletion affecting SET, who underwent a 28‐year diagnostic odyssey after an atypical Rett syndrome clinical diagnosis. Genomic and proteomics analyses confirmed SET haploinsufficiency, refining the critical 9q34.11 region, and supporting speech therapy benefits in improving meaningful ...
Angelo Condell, Elaine Zhang, Tim Sikora, Sean Massey, Nicole J. Van Bergen, Min Wang, Cas Simons, Katrina M. Bell, Daniella H. Hock, David A. Stroud, David Francis, Wendy A. Gold, Martin B. Delatycki, John Christodoulou, Simranpreet Kaur   +14 more
wiley   +1 more source

Signals Alongside Scans: A Genomics-Guided Framework for Liquid Biopsy in Bone and Soft-Tissue Sarcomas. [PDF]

Cells
Alabid I, Yousef AJ, Patni MM, Aloti RA, Qassim ZAM, Alothman-Agha AA, Hamdy HA, Noury FM, Abdelfattah MT.   +8 more
europepmc   +1 more source

Exercise Snacks Are Feasible to Perform in the Real World and Improve Physical Capacity for Adults Living With Non‐Insulin Treated Type 2 Diabetes: A Randomised Trial

Diabetes, Obesity and Metabolism, Volume 28, Issue 10, Page 9294-9303, October 2026.
ABSTRACT Aims To investigate the feasibility and preliminary efficacy of a 12‐week remotely‐delivered exercise snacks (ES) intervention in adults with type 2 diabetes. Material and Methods Insufficiently active adults with type 2 diabetes (N = 69; 46 females; mean age ± SD: 58 ± 11 years) were randomised to an ES or mobility/stretching comparator group
Fiona J. Babir, Alexis Marcotte‐Chénard, Roderick E. Sandilands, Kaja Falkenhain, Noah Mulkewich, Hashim Islam, Seth F. McCarthy, Douglas L. Richards, Kenneth Madden, Joel Singer, Michael C. Riddell, Mary E. Jung, Martin J. Gibala, Jonathan P. Little   +13 more
wiley   +1 more source

Evaluation of a rapid, direct sample loading electrochemical AST assay with clinical urine samples. [PDF]

Front Microbiol
Riester O, Kolesnik-Goldmann N, Quiblier C, Krames WEA, Nolte O, Deigner HP.   +5 more
europepmc   +1 more source

Cytogenetic Diversity of Variant Philadelphia Translocations in Chronic Myeloid Leukemia

International Journal of Laboratory Hematology, Volume 48, Issue 5, Page 1103-1112, October 2026.
ABSTRACT Introduction Chronic myeloid leukemia (CML) is a disease characterized by Philadelphia (Ph) translocations. These translocations can be classical or variant. The structural features and diagnostic implications of variant Philadelphia translocations remain incompletely defined, and they display considerable cytogenetic heterogeneity. Methods In
Ayse Gul Bayrak Tokac, Aynur Aday, Simge Erdem, Gulcin Bagatir, Burak Don, Ozden Ozcan, Akif Selim Yavuz, Sevgi Kalayoglu Besisik, Meliha Nalcaci, Kivanc Cefle, Sukru Ozturk   +10 more
wiley   +1 more source

Dual-Driver Myeloproliferative Neoplasm: Concurrent p190 <i>BCR::ABL1</i> CML and <i>JAK2</i> V617F Mutation: A Case Report and Literature Review. [PDF]

Case Rep Hematol
Elkady M, Jin Y, Zhao W.
europepmc   +1 more source

Genomic Medicine Sweden: Advancing precision medicine at the national level

Journal of Internal Medicine, Volume 300, Issue 4, Page 397-419, October 2026.
Abstract High‐throughput sequencing has transformed clinical diagnostics of rare diseases (RD), cancer and infectious diseases by enabling the identification of disease‐causing genetic alterations and facilitating individualised treatment and care.
Anders Edsjö, Anna Lindstrand, Panagiotis Baliakas, David Gisselsson, Paula Mölling, Mia Wadelius, Åsa Johansson, Hannes Olauson, Hans Ehrencrona, Lovisa Lovmar, Christian G. Giske, Henrik Green, Ann Nordgren, Fulya Taylan, Martin Hallbeck, Erika Tång Hallbäck, Anna Green, Markus Heidenblad, Kina Höglund, Anders Jemt, Carl Mårten Lindqvist, Maria Johansson Soller, Magnus Sabel, Colum Walsh, Hartmut Vogt, Craig E. Wheelock, Martin Bergö, Jens Enoksson, Ann Ekberg Jansson, Cecilia Fagerström, Jan Holgersson, Stephanie Anja Juran, Mats G. Karlsson, Frida Lundmark, Eva Tiensuu Janson, Andreas Muranyi Scheutz, Malin Sund, Päivi Östling, Sofia Gruvberger‐Saal, Marene Landström, Malin Melin, Lars Palmqvist, Richard Palmqvist, Bianca Stenmark, Anna Wedell, Malin Karnå, Katarina Nyström, Tobias Strid, Per Sikora, Maria Johansson, Therese Fagerqvist, Mirja Carlsson Möller, Oskar Frisell, Mats Ulfendahl, Mikaela Friedman, Lucia Cavelier, Valtteri Wirta, Thoas Fioretos, Richard Rosenquist   +58 more
wiley   +1 more source

Two Novel Compound Heterozygous <i>CDH23</i> Mutations Underlying Non-Syndromic Hearing Loss. [PDF]

Int J Gen Med
Xu P, Liao Q, Lin Y, Zhao N, Li L.
europepmc   +1 more source

Apoptosis-driven chromosomal rearrangements in cancer: CAD cleavage, nuclear architecture, and microhomology-mediated end joining. [PDF]

Oncogenesis
Tan SN.
europepmc   +1 more source