Results 61 to 70 of about 22,467,747 (285)

Prenatal diagnosis of fetuses with ultrasound soft markers

BMC Pregnancy and Childbirth
Objective This study aims to evaluate the association between ultrasound soft markers and fetal chromosomal abnormalities and to compare the diagnostic efficacy of karyotype analysis versus chromosomal microarray analysis (CMA) for prenatal testing ...
Qianzhu Jiang, Chang Tan, Lin Yuan, Aziz Ur Rehman Aziz, Haihua Yu, Xiliang Wang   +5 more
doaj   +1 more source

The clinical, cytogenetics and molecular characterization of inverted duplication/deletion of chromosome 8p in a boy with mental and motor retardation: Genotype-phenotype correlation in a case report

Egyptian Journal of Medical Human Genetics, 2018
Background: Rearrangements that occur mainly through the non-allelic homologous recombination (NAHR) during maternal meiosis in short arms of chromosome 8 is relatively associated with various clinical spectrum.
Fatma Silan, Romyla Bourouba, Taner Karakaya, Onur Yildiz, Baris Paksoy, Mine Urfali, Ozturk Ozdemir   +6 more
doaj   +1 more source

Multi‐regional Organoid Biobank Reveals FAK‐ACSL1‐Driven Doxorubicin‐Resistance and Predictive Biomarkers in Breast Cancer

Advanced Science, EarlyView.
This study established a high‐quality organoid biobank derived from 68 tumor sites across 50 Chinese patients, elucidated the drug sensitivity‐based molecular subtyping in breast cancer, and revealed a novel mechanism of drug resistance mediated by the FAK‐ACSL1 pathway.
Hao Xu, Zhijun Qin, Jiapeng Yang, Baoyuan Zhang, Manqing Cao, Peng Wang, Zaiqi Wang, Jinghui Cheng, Lei Wang, Hong Liu, Hui Yang   +10 more
wiley   +1 more source

Prenatal Diagnosis of 17p13.1p13.3 Duplication

Case Reports in Medicine, 2012
We present here the first prenatal diagnosis of 17p13.1p13.3 duplication. 17p13.3 duplication has recently been defined as a new distinctive syndrome with several diagnosed patients.
Kirsi Kiiski, Tiiu Roovere, Riina Zordania, Harriet von Koskull, Nina Horelli-Kuitunen   +4 more
doaj   +1 more source

The Utility of Chromosomal Microarray Analysis in Developmental and Behavioral Pediatrics [PDF]

Child Development, 2013
Abstract Chromosomal microarray analysis (CMA) has emerged as a powerful new tool to identify genomic abnormalities associated with a wide range of developmental disabilities including congenital malformations, cognitive impairment, and behavioral abnormalities.
openaire   +2 more sources

General lack of global dosage compensation in ZZ/ZW systems? Broadening the perspective with RNA-seq [PDF]

, 2011
Background Species with heteromorphic sex chromosomes face the challenge of large-scale imbalance in gene dose. Microarray-based studies in several independent male heterogametic XX/XY systems suggest that dosage compensation mechanisms are in place to ...
Bryk, Jaroslaw,, Bryk, Jarek, Wolf, Jochen B. W.,, Wolf, Jochen BW, Bryk Jarosław, Wolf, Jochen B. W., Jochen BW Wolf, Bryk, J., Bryk, Jarosłav, Wolf, J., Jarosław Bryk, Wolf Jochen BW   +11 more
core   +2 more sources

Genetic Ablation and Multi‐Omics Profiling Reveal CEP55 as a Key Driver of Tumorigenesis in Diverse Cancer Models

Advanced Science, EarlyView.
Genetic ablation of Cep55 in Pten‐deficient mouse models delays tumorigenesis. Integrated multi‐omics analyses (proteomics, phosphoproteomics, and spatial transcriptomics) reveal that CEP55 regulates oncogenic signaling (RAS/ERK, PI3K/AKT), integrin/FAK‐mediated adhesion, extracellular matrix (ECM) remodeling, and endocytosis.
Behnam Rashidieh, Yuanhao Yang, Amanda Louise Bain, Phillip Theron, Catharina Vosloo, Sahar Keshvari, Parinaz Ahangar, Brydie Bowden, Simon M. Tria, Ben B. Wang, Sandra Isenmann, Nicholas J. Westra van Holthe, Zherui Xiong, Hani Vu, Sowmya Sharma, Asmerom Sengal, J. Alejandro Lopez, John Finnie, Antonella Papa, Pascal H.G. Duijf, Quan Nguyen, Pirjo M. Apaja, Kum Kum Khanna   +22 more
wiley   +1 more source

Supernumerary derivative 22 chromosome resulting from novel constitutional non-Robertsonian translocation: t(20;22)—Case Report

Molecular Cytogenetics, 2022
Background Maternal non-Robertsonian translocation-t(20;22)(q13;q11.2) between chromosomes 20 and 22resulting in an additional complex small supernumerary marker chromosome as derivative (22)inherited to the proband is not been reported yet.
H. C. Manju, Supriya Bevinakoppamath, Deepa Bhat, Akila Prashant, Jayaram S. Kadandale, P. V. V. Gowri Sairam   +5 more
doaj   +1 more source

Clinical and Cytogenomic Characterization of Three Patients With Distal 1q43q44 Deletion: Twin Sisters With a de novo Deletion and a Patient With der(1)t(1;21)(q43;q22.3)mat. [PDF]

J Clin Lab Anal
Distal 1q43q44 deletions lead to a consistent neurodevelopmental phenotype characterized by microcephaly, corpus callosum abnormalities, and developmental delay. Despite differences in genomic architecture, overlapping deletions affecting dosage‐sensitive genes such as AKT3, HNRNPU, and ZBTB18 define the core phenotype.
Domínguez-Quezada MG, Rivera H, Figuera LE, Barros-Núñez P, Castrillo JL, Córdova-Fletes C, Aguayo-Orozco TA.   +6 more
europepmc   +2 more sources

Chromosomal Microarray Analysis in Fetuses with Ultrasound Abnormalities

International Journal of General Medicine
To explore and evaluate the value of chromosomal microarray analysis (CMA) in prenatal diagnosis of fetuses with ultrasound abnormalities.A retrospective analysis was performed on 370 fetuses with ultrasound abnormalities received invasive prenatal diagnosis at Meizhou People's Hospital from October 2022 to December 2023.
Xiaoqin Chen, Liubing Lan, Heming Wu, Mei Zeng, Zhiyuan Zheng, Qiuping Zhong, Fengdan Lai, Yonghe Hu   +7 more
openaire   +4 more sources