Results 101 to 110 of about 154,528 (340)

Partial trisomy 8 mosaicism not detected by cultured amniotic-fluid cells

Taiwanese Journal of Obstetrics & Gynecology, 2014
Objective: Prenatal detection of trisomy 8 mosaicism can be misleading and remains challenging in genetic counseling. Identifying cases of partial or complete trisomy 8 mosaicism will highlight the pitfalls of conventional karyotyping in prenatal ...
Meng-Che Tsai, Hsueh-Yin Cheng, Mei-Tsz Su, Ming Chen, Pao-Lin Kuo   +4 more
doaj   +1 more source

Molecular Genetics of Intracranial Meningiomas with Emphasis on Canonical Wnt Signalling. [PDF]

, 2016
Research over the last decade recognized the importance of novel molecular pathways in pathogenesis of intracranial meningiomas. In this review, we focus on human brain tumours meningiomas and the involvement of Wnt signalling pathway genes and proteins ...
Kafka, Anja, Lechpammer, Mirna, Pećina-Šlaus, Nives   +2 more
core   +2 more sources

Analysis of Patients With Monocytic and Monocytic‐Like Acute Myeloid Leukemia, Including AML‐M4 and AML‐M5, Treated With Venetoclax Plus Azacitidine

American Journal of Hematology, EarlyView.
Marina Konopleva, Courtney D. DiNardo, Yan Sun, Paul Jung, Sanam Loghavi, Jalaja Potluri, Monique Dail, Brenda Chyla, Daniel A. Pollyea   +8 more
wiley   +1 more source

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons, Marc A. Beal, Kerry L. Dearfield, George R. Douglas, Min Gi, B. Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Michelle Kenyon, Alexandra S. Long, David P. Lovell, Anthony M. Lynch, Meagan B. Myers, Stefan Pfuhler, Alisa Vespa, Andreas Zeller, George E. Johnson, Paul A. White   +17 more
wiley   +1 more source

Cytogenetically Balanced Reciprocal Translocation Could Hide Molecular Genomic Unbalances: Implications for Foetal Phenotype Correlation

Diagnostics
When an increased nuchal translucency (>3.00 mm) is observed during the echographic examination of a foetus in the first trimester of pregnancy, an increased risk of chromosomopathy is considered, and the pregnant woman is offered the possibility of an ...
Nicoletta Villa, Serena Redaelli, Stefania Farina, Elena Sala, Francesca Crosti, Sabrina Cozzolino, Maria Verderio, Leda Dalprà, Gaia Roversi, Angela Bentivegna, Giovanni Cazzaniga, Marialuisa Lavitrano, Donatella Conconi   +12 more
doaj   +1 more source

Pallister–Killian syndrome: Cytogenetics and molecular investigations of mosaic tetrasomy 12p in prenatal chorionic villus and in amniocytes. Strategy of prenatal diagnosis

Taiwanese Journal of Obstetrics & Gynecology, 2016
Objective: Pallister–Killian syndrome (PKS) is a rare, sporadic genetic disorder caused by mosaic tetrasomy of the short arm of chromosome 12 (12p).
Francesco Libotte, Domenico Bizzoco, Ivan Gabrielli, Alvaro Mesoraca, Pietro Cignini, Salvatore Giovanni Vitale, Ilaria Marilli, Ferdinando Antonio Gulino, Agnese Maria Chiara Rapisarda, Claudio Giorlandino   +9 more
doaj   +1 more source

Review of Transcriptomic Biomarkers That Predict In Vitro Genotoxicity in Human Cell Lines

Environmental and Molecular Mutagenesis, EarlyView.
ABSTRACT The current genotoxicity testing paradigm provides little mechanistic information, has poor specificity in predicting carcinogenicity in humans, and is not suited to assessing a large number of chemicals. Genomic technologies enable the characterization of genome‐wide transcriptional changes in response to chemical treatments that can inform ...
Heng‐Hong Li, Jiri Aubrecht, Tatyana Y. Doktorova, Danyel Jennen, J. Christopher Corton, Roland Froetschl, Roman Mezencev, Carole L. Yauk   +7 more
wiley   +1 more source

Euchromatic variants of 8q21.2 in twins

Taiwanese Journal of Obstetrics & Gynecology, 2017
Objective: Euchromatic variants (EVs) of 8q21.2 are extremely rare chromosomal abnormalities. So, far there have only been two reports on EVs of 8q21.2. Here, we report an 8q21.2 EV detected in cultured amniotic-fluid cells of twins.
Xiao-Hui Song, Hui-Kuo Hsu, Mei-Tsz Su, Tai-Sheng Chang, Piing Yuh Su, Ming Chen, Pao-Lin Kuo   +6 more
doaj   +1 more source

Apoptosis in mouse fetal and neonatal oocytes during meiotic prophase one [PDF]

, 2007
Background The vast majority of oocytes formed in the fetal ovary do not survive beyond birth. Possible reasons for their loss include the elimination of non-viable genetic constitutions arising through meiosis, however, the ...
Ghafari , Fataneh, Gutierrez , Carlos G., Hartshorne, Geraldine M.   +2 more
core   +4 more sources

Comparative assessment of artificial intelligence chatbots' performance in responding to healthcare professionals' and caregivers' questions about Dravet syndrome

Epilepsia Open, EarlyView.
Abstract Objective Artificial intelligence chatbots have been a game changer in healthcare, providing immediate, round‐the‐clock assistance. However, their accuracy across specific medical domains remains under‐evaluated. Dravet syndrome remains one of the most challenging epileptic encephalopathies, with new data continuously emerging in the ...
Joana Jesus‐Ribeiro, Eugenia Roza, Bárbara Oliveiros, Joana Barbosa Melo, Mar Carreño   +4 more
wiley   +1 more source