Results 11 to 20 of about 2,581,325 (340)

Predictive value of aberrant right subclavian artery for fetal chromosome aneuploidy in women of advanced maternal age

BMC Pregnancy and Childbirth, 2021
Background In the entire population, an aberrant right subclavian artery (ARSA) is closely associated with chromosomal abnormalities. ARSA with additional ultrasonic findings would increase risk of chromosomal abnormalities. The risk of fetal chromosomal
Li-Ping Chen, Yong-Feng Lai, Xiao-Hong Zhong, Jian-Hong You, Jiang-Hua Chen, Jing-Xian Xie, Xiao-Kang Chen, Xiao-Yan Chen, Guo-Rong Lyu   +8 more
doaj   +1 more source

Preimplantation Genetic Testing for Chromosomal Abnormalities: Aneuploidy, Mosaicism, and Structural Rearrangements

Genes, 2020
There is a high incidence of chromosomal abnormalities in early human embryos, whether they are generated by natural conception or by assisted reproductive technologies (ART).
M. Viotti
semanticscholar   +1 more source

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

Cell, 2012
M. Talkowski, J. Rosenfeld, Ian Blumenthal, V. Pillalamarri, Colby Chiang, Adrian Heilbut, C. Ernst, Carrie Hanscom, E. Rossin, Amelia M. Lindgren, S. Pereira, D. Ruderfer, Andrew W. Kirby, S. Ripke, D. Harris, J. Lee, Kyungsoo Ha, Hyung-Goo Kim, B. Solomon, A. Gropman, D. Lucente, K. Sims, Toshiro K. Ohsumi, Mark L. Borowsky, S. Loranger, B. Quade, K. Lage, J. Miles, Bai-Lin Wu, Yiping Shen, B. Neale, L. Shaffer, M. Daly, C. Morton, J. Gusella   +34 more
semanticscholar   +3 more sources

Non-immune fetal hydrops: etiology and outcome according to gestational age at diagnosis. [PDF]

, 2020
OBJECTIVE: Fetal hydrops is associated with increased perinatal morbidity and mortality. The etiology and outcome of fetal hydrops may differ according to the gestational age at diagnosis.
A. Bhide, A. Khalil, A. Kulkarni, B. Thilaganathan, E. Dempsey, F. G. Sileo, Hutchison AA, I. Branescu, Jauniaux E, Norton ME, S. Mansour, Santolaya J, T. Homfray   +12 more
core   +2 more sources

Cytogenetic findings in patients with intellectual disability and/or multiple congenital anomalies [PDF]

Journal of Analytical Research in Clinical Medicine, 2016
Introduction: Chromosomal abnormalities are a major etiology of intellectual disability (ID) and multiple congenital anomalies (MCAs). Screening for chromosomal aberrations by clinical diagnostic techniques has been primarily performed ...
Sima Derakhshan, Mahmoud Khaniani
doaj   +1 more source

Clinical Utility and the Yield of Single Nucleotide Polymorphism Array in Prenatal Diagnosis of Fetal Central Nervous System Abnormalities

Frontiers in Molecular Biosciences, 2021
Applying single nucleotide polymorphism (SNP) array to identify the etiology of fetal central nervous system (CNS) abnormality, and exploring its association with chromosomal abnormalities, copy number variations, and obstetrical outcome.
Meiying Cai, Hailong Huang, Liangpu Xu, Na Lin   +3 more
doaj   +1 more source

X chromosomal abnormalities in basal-like human breast cancer.

Cancer Cell, 2006
A. Richardson, Z. Wang, A. Nicolo, A. Nicolo, Xin Lu, Myles A. Brown, A. Miron, Xiaodong Liao, J. D. Iglehart, J. D. Iglehart, D. Livingston, Shridar Ganesan, Shridar Ganesan   +12 more
semanticscholar   +3 more sources

Epilepsy and chromosomal abnormalities

Italian Journal of Pediatrics, 2010
Background Many chromosomal abnormalities are associated with Central Nervous System (CNS) malformations and other neurological alterations, among which seizures and epilepsy. Some of these show a peculiar epileptic and EEG pattern.
Sorge Giovanni, Sorge Anna
doaj   +1 more source

Chromosomal aberrations in transitional cell carcinoma that are predictive of disease outcome are independent of polyploidy [PDF]

, 1999
Objective To determine whether aneusomy for chromosomes 7, 9 and 17 (reported to predict recurrence in up to 65% of patients with superficial transitional cell bladder cancer and thus providing the opportunity for early and effective treatment) reflects ...
Adie, L., Bartlett, J.M.S., Going, J.J., Grigor, K.M., Watters, A.D.   +4 more
core   +1 more source

Chromosomal Abnormalities in ADHD

Pediatric Neurology Briefs, 2002
The prevalence of fragile X syndrome, velocardiofacial syndrome (VCFS), and other cytogenetic abnormalities among 100 children (64 boys) with combined type ADHD and normal intelligence was assessed at the NIMH and Georgetown University Medical Center.
J Gordon Millichap
doaj   +1 more source