Results 171 to 180 of about 97,243 (292)

Table S1-S6, and Figure S1-S4 from Evolutionary Expression of HER2 Conferred by Chromosome Aneuploidy on Circulating Gastric Cancer Cells Contributes to Developing Targeted and Chemotherapeutic Resistance

, 2023
Yilin Li, Xiaotian Zhang, Dan Liu, Jifang Gong, Daisy Dandan Wang, Shan Li, Peng Zhi, Yanyan Li, Xiaojuan Wang, Peter Ping Lin, Min Li, Lin Shen   +11 more
openalex   +1 more source

Supplementary Figure 7 from A Transcriptional and Metabolic Signature of Primary Aneuploidy Is Present in Chromosomally Unstable Cancer Cells and Informs Clinical Prognosis [PDF]

, 2023
Jason M. Sheltzer
openalex   +1 more source

Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes

Clinical Genetics, EarlyView.
In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari, Jade Charbonneau, Valancy Miranda, Khadijé Jizi, Marie‐Ange Delrue, Patricia Egerszegi, Isabelle Thiffault, Philippe M. Campeau   +7 more
wiley   +1 more source

Susceptibility to Aneuploidy in Young Mothers of Down Syndrome Children [PDF]

, 2009
Lucia Migliore, Francesca Migheli, Fabio Coppedè   +2 more
openalex   +1 more source

Prenatal Diagnosis of MSL2‐Related Ventriculomegaly in Association With an Inherited 15q13 Microduplication

Clinical Genetics, EarlyView.
We hereby report the first prenatal diagnosis of MSL2‐related pathology, namely ventriculomegaly. Favorable 11‐month follow‐up illustrates the challenges in predicting postnatal outcomes for genetic anomalies linked to recently characterized phenotypes with limited documented cases.
Omar Zgheib, Thomas Rio Frio, Jean‐Marie Pellegrinelli, Stefania Gimelli, Caterina Marconi, Delphine Le Mercier, Monica Rebollo Polo, Céline Habre, Joël Fluss, Russia Ha‐Vinh Leuchter, Marc Abramowicz, Rosalinda Giannini, Siv Fokstuen   +12 more
wiley   +1 more source

Four years experience of first‐trimester nuchal translucency screening for fetal aneuploidies with increasing regional availability

, 2001
Kornélia Wayda, Attila Keresztúri, Hajnalka Orvos, Emese Horváth, Attila Pál, László Kovács, János Szabó   +6 more
openalex   +1 more source

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics

Clinical Genetics, EarlyView.
To assess the relevance of exome sequencing as a first‐tier diagnostic tool, three aspects were investigated: detection of copy number variants (CNVs) from exomes as compared to chromosomal microarray, clinically‐relevant CNVs across all sizes, and additional diagnostic utilities (uniparental disomy and triploidy).
Rivka Birnbaum, Maya Slovik, Shamir Zenvirt, Ilana Livyatan, Israel Altman, Shiri Gershon, Jonathan Rips, Hagit Daum, Chaggai Rosenbluh, Orly Elpeleg, Vardiella Meiner, Ayala Frumkin, Hagar Mor‐Shaked, Tamar Harel   +13 more
wiley   +1 more source

Author response: Non-invasive detection of urothelial cancer through the analysis of driver gene mutations and aneuploidy

, 2018
Simeon Springer, Chung‐Hsin Chen, Maria Del Carmen Rodriguez Pen᷉a, Lu Li, Christopher Douville, Yuxuan Wang, Joshua D. Cohen, Diana Taheri, Natalie Silliman, Joy Schaefer, Janine Ptak, Lisa Dobbyn, Maria Papoli, Isaac Kinde, Bahman Afsari, Aline C. Tregnago, Stephania Martins Bezerra, Christopher J. VandenBussche, Kazutoshi Fujita, Dilek Ertoy, Isabela W. Cunha, Lijia Yu, Trinity J. Bivalacqua, Arthur P. Grollman, Luis A. Díaz, Rachel Karchin, Ludmila Danilova, Chao‐Yuan Huang, Chia‐Tung Shun, Robert J. Turesky, Byeong Hwa Yun, Thomas A. Rosenquist, Yeong‐Shiau Pu, Ralph H. Hruban, Cristian Tomasetti, Nickolas Papadopoulos, Ken W Kinzler, Bert Vogelstein, Kathleen G. Dickman, George J. Netto   +39 more
openalex   +1 more source

A Zebrafish Model of Germ Cell Aneuploidy [PDF]

, 2004
Kenneth D. Poss
openalex   +1 more source

Expanding Access to Genome Sequencing: Higher Diagnostic Yield in Self‐Referred Participants From the CincyKidsSeq Study and Implications for Hybrid Models of Genetic Service Delivery

Clinical Genetics, EarlyView.
Genome sequencing helped find answers for 1 in 5 children with rare conditions in an outpatient study looking at hybrid genetic care delivery. Families who chose testing themselves had the highest diagnostic yield, showing that self‐referral may be a helpful way to improve access to genetic care.
Kristin Theobald, Amelle Shillington, Farrah Jackson, Jaime Lopes, Casey J. Brewer, Brian Dawson, Gang Wu, James Denton, Mike Pauciulo, Xue Zhang, Anne Slavotinek   +10 more
wiley   +1 more source