Results 111 to 120 of about 55,696 (242)

Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration

Clinical Genetics, Volume 110, Issue 1, Page 46-63, July 2026.
Whole exome sequencing for Romanian patients with neurodevelopmental disorders through an international collaboration—this study has provided a 50% diagnostic yield for patients with NDDs (27 positive results from 54 patients), supporting the implementation of a WES analysis that can identify SNVs, small INDELs, CNVs, and mitochondrial variants ...
Alexandru Caramizaru, Cristina Durac, Andreea Dumitrescu, Alexandru Calota‐Dobrescu, Alix de Becdelièvre, Marina Konyukh, Denise Cassandrini, Hane Lee, Go Hun Seo, Seung Woo Ryu, Mihai Cucu, Iuliana Manuela Dragomir, Andreea Catana, Homa Tajsharghi, Edoardo Malfatti, Florin Burada, Amelia Dobrescu   +16 more
wiley   +1 more source

Clinical Validation of the Belay Ascent™ Test to Report on Chromosomal Arm-Level Aneuploidy and Gene-Level Copy Number Variants in Cerebrospinal Fluid Using Low-Pass Whole-Genome Sequencing. [PDF]

Cancers (Basel)
Nie Q, Schilter KF, Larson A, Udhane V, Keo V, Khurana S, Adams JN, Acevedo A, Sanchez D, Peltier T, Mitchell K, Robinson D, Hernandez KM, Douville C, Bettegowda C, Reddi HV.   +15 more
europepmc   +1 more source

Abnormal cleavage patterns in equine in vitro‐produced embryos lead to higher early pregnancy loss

Equine Veterinary Journal, Volume 58, Issue 4, Page 970-980, July 2026.
Summary Background Despite significant advances, in vitro production (IVP) of equine embryos continues to lack standardised embryo classification criteria and is associated with increased rates of early pregnancy loss compared with in vivo‐derived blastocysts.
Soledad Martin‐Pelaez, Alejandro de la Fuente, Kazuki Takahashi, Hugo Monteiro, Mauricio Mendes, Stuart Meyers, Pouya Dini   +6 more
wiley   +1 more source

Reproductive outcomes of mosaic embryo transfers - rethinking the clinical relevance of contemporary mosaicism reporting in preimplantation genetic testing for aneuploidy. [PDF]

Curr Opin Obstet Gynecol
Ottolini CS, Caroselli S, Capalbo A.
europepmc   +1 more source

Copy Number Analysis in Congenital Nevi: Concordance and Diagnostic Limitations of aCGH, sWGS, and Methylation Sequencing

Pigment Cell &Melanoma Research, Volume 39, Issue 4, July 2026.
Distinguishing proliferative nodules from melanoma in congenital melanocytic nevi remains challenging. While aCGH, sWGS, and methylation sequencing show high concordance for broad CNAs, higher‐resolution methods detect additional focal alterations that can lead to discordant classifications.
Anton Karelin, Ines B. Brecht, Michaela Pogoda, German Demidov, Michael Abele, Dominik T. Schneider, Daniel Aldea, Heather C. Etchevers, Susana Puig, Matthias Hahn, Christopher Schroeder, Stephan Forchhammer, on behalf of the MELCAYA consortium   +12 more
wiley   +1 more source

Aneuploidy confers environmentally robust higher evolvability than euploidy in a synthetic allotetraploid wheat. [PDF]

Sci Adv
Wang H, Wang R, Chen B, Aslam T, Lian T, Xu C, Liu B, Lv R.   +7 more
europepmc   +1 more source

Efficacy and immunogenic effects of Tumor Treating Fields (TTFields) in preclinical models of pancreatic ductal adenocarcinoma, with and without gemcitabine/nab‐paclitaxel

International Journal of Cancer, Volume 158, Issue 12, Page 3091-3100, 15 June 2026.
What's new? Adaptive immune responses are typically limited in pancreatic ductal adenocarcinoma, resulting in minimal efficacy of immune checkpoint inhibitors. Tumor Treating Fields (TTFields) therapy, which uses low‐intensity intermediate‐frequency electric fields to disrupt cancer cell processes, has been approved for certain cancers.
Tal Kan, Tharwat Haj Khalil, Yiftah Barsheshet, Tali Voloshin, Lilach Koren, Bella Koltun, Cfir David, Kerem Wainer‐Katsir, Avital Vorontsova, Boris Brant, Simona Zisman‐Rozen, Hila M. Ene, Roni Frechtel‐Gerzi, Shay Cahal, Anat Klein‐Goldberg, Lena Lifshitz, Efrat Zemer Tov, Mai Shai, Adi Haber, Moshe Giladi, Uri Weinberg, Yoram Palti   +21 more
wiley   +1 more source

Clinical Use of Combined First-Trimester Screening Test for Aneuploidy in A Low-Income Setting: Retrospective Study. [PDF]

Health Sci Rep
Diress T, Wondafrash M, Gudu W, Abdosh AA, Sium AF.   +4 more
europepmc   +1 more source

Genetic attenuation of ALDH1A1 increases metastatic potential and aggressiveness in colorectal cancer

Molecular Oncology, Volume 20, Issue 6, Page 1556-1590, June 2026.
Aldehyde dehydrogenase 1A1 (ALDH1A1) is a cancer stem cell marker in several malignancies. We established a novel epithelial cell line from rectal adenocarcinoma with unique overexpression of this enzyme. Genetic attenuation of ALDH1A1 led to increased invasive capacity and metastatic potential, the inhibition of proliferation activity, and ultimately ...
Martina Poturnajova, Zuzana Kozovska, Ondrej Pos, Kristina Pavlov, Sachin Gulati, Peter Makovicky, Kristina Jakic, Monika Burikova, Eva Sedlackova, Barbora Svitkova, Silvia Tyciakova, Vojtech Bystry, Nicolas Blavet, Boris Tichy, Matej Hrnciar, Jaroslav Budis, Miroslav Tomas, Peter Dubovan, Georgina Kolnikova, Veronika Repaska, Nikoleta Mojzesova, Eva Zomborska, Daniel Pindak, Michal Mego, Tomas Szemes, Miroslava Matuskova   +25 more
wiley   +1 more source

Misdiagnosis of different types of aneuploidy in preimplantation genetic testing (PGT): a systematic review and meta-analysis. [PDF]

Arch Gynecol Obstet
Jiang W, Hu Z, Han Y, Shi J, Chen K, Lian Y, Li W, Hao P, Zhou Z, Wu Z, Li Y, Wu X, Li M, Deng L, Zheng H, Bi Z, Ding L, Pan X, Ma R, Tang Z, Mu J, Xie X, Li Y, Yan J.   +23 more
europepmc   +1 more source