Results 241 to 250 of about 113,215 (275)

TGM2 Regulates Radiosensitivity via POGZ‐Mediated Repair of DNA Double‐Strand Breaks in Cervical Cancer

Cancer Science, EarlyView.
The present study revealed for the first time that TGM2 could regulate the radiosensitivity of cervical cancer via POGZ‐mediated DNA DSB repair. Our findings revealed that TGM2 regulates the radiosensitivity of cervical cancer and demonstrated that POGZ serves as a bridge linking TGM2 to the DNA damage repair process, and suggested a novel mechanistic ...
Yunbo Chi, Peng Dong, Ning Zhang, Baocai Liu, Qian Wang, Guanghui Cheng   +5 more
wiley   +1 more source

Prenatal chromosomal microarray analysis in a large Chinese cohort of fetuses with congenital heart defects: a single center study. [PDF]

Orphanet J Rare Dis
Lu Q, Luo L, Zeng B, Luo H, Wang X, Qiu L, Yang Y, Feng C, Zhou J, Hu Y, Huang T, Ma P, Huang T, Xie K, Yuan H, Huang S, Yang B, Zou Y, Liu Y.   +18 more
europepmc   +1 more source

Evaluation the Application of Karyotype Analysis and Chromosome Microarray in Prenatal Diagnosis

Huafeng Li, Yongli Li, Yanli Zhang, Jinping Zhu, Yuqiang Huang   +4 more
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

Prenatal detection of distal 18p deletion by chromosomal microarray analysis: Three case reports and literature review. [PDF]

Medicine (Baltimore)
Xu T, Yue F, He J, Zhang H, Liu R.
europepmc   +1 more source

Meta-analysis of microarray datasets identify several chromosome segregation-related cancer/testis genes potentially contributing to anaplastic thyroid carcinoma

, 2018
Mu Liu, Yulu Qiu, Tong Jin, Lanying Li, Zhiyuan Mao, Yongjie Zhang   +5 more
openalex   +1 more source

MAP1B Variants Disrupt Neuronal Migration: Insights From Three Novel Families

Clinical Genetics, EarlyView.
Pathogenic variants in MAP1B have recently emerged as a cause of neurodevelopmental disorders characterized by intellectual disability, epilepsy, and cortical malformations, including periventricular nodular heterotopia (PVNH) and polymicrogyria (PMG).
Jessica Archer, Matt Edwards, Thomas Macdougall, Anne Baxter, Himanshu Goel   +4 more
wiley   +1 more source

Chromosomal abnormalities detected by chromosomal microarray analysis and pregnancy outcomes of 4211 fetuses with high-risk prenatal indications. [PDF]

Sci Rep
Li H, Hu J, Wu Q, Qiu J, Zhang L, Zhu J.
europepmc   +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

Prenatal diagnosis of 17q12 copy number variants in fetuses via chromosomal microarray analysis - A retrospective cohort study and literature review. [PDF]

Heliyon
Huang R, Ma C, Chen H, Fu F, Han J, Liu L, Li L, Yan S, Lu J, Zhou H, Wang Y, Guo F, Jing X, Li F, Zhen L, Li D, Li R, Liao C.   +17 more
europepmc   +1 more source