Results 121 to 130 of about 22,467,747 (285)

Fetal congenital gastrointestinal obstruction: prenatal diagnosis of chromosome microarray analysis and pregnancy outcomes. [PDF]

BMC Pregnancy Childbirth, 2023
Ni M, Zhu X, Liu W, Gu L, Zhu Y, Cao P, Gu Y, Xu Y, Dai C, Wu X, Yang Y, Zhou C, Li J.   +12 more
europepmc   +1 more source

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

Iranian Journal of Public Health
Background: We aimed to compare the difference of the chromosomal abnormalities using karyotype analysis and chromosomal microarray (CMA) as well as to evaluate their application in different prenatal diagnosis indications. Methods: Overall, 3007 pregnant women with prenatal diagnosis indications from Medical Genetics Department of Linyi Women and ...
Li, Huafeng, Li, Yongli, Zhang, Yanli, Zhu, Jinping, Huang, Yuqiang   +4 more
openaire   +2 more sources

Genomic Insights Into Risperidone Treatment Outcomes in Children and Adolescents: Experience From a Psychiatric Hospital Serving Rural Youth

Clinical Pharmacology &Therapeutics, EarlyView.
Risperidone is a commonly used antipsychotic for treating psychiatric illness in children and adolescents. There is a large variability in risperidone response and discontinuation rates remain high. Pharmacogenomics offers the opportunity to improve risperidone outcomes, yet studies in pediatric populations are limited.
Jack W. Staples, Shayna R. Killam, Karen E. Brown, Rachel Dalton, Elizabeth Sather, Qiang Chen, Joshua Loveland, Corbin Schwanke, Abdallah F. Elias, Kristin L. Bigos, Erica L. Woodahl   +10 more
wiley   +1 more source

Chromosomal Abnormalities Detected by Chromosomal Microarray Analysis and Karyotype in Fetuses with Ultrasound Abnormalities

International Journal of General Medicine
Chromosomal microarray analysis (CMA) is a first-line test to assess the genetic etiology of fetal ultrasound abnormalities. The aim of this study was to evaluate the effectiveness of CMA in detecting chromosomal abnormalities in fetuses with ultrasound abnormalities, including structural abnormalities and non-structural abnormalities.A retrospective ...
Liubing Lan, Dandan Luo, Jianwen Lian, Lingna She, Bosen Zhang, Hua Zhong, Huaxian Wang, Heming Wu   +7 more
openaire   +4 more sources

Cytogenetic analysis of uveal melanomas: a long-term experience [PDF]

, 2013
Background/aim: Cytogenetic profile of posterior uveal melanoma (mainly monosomy 3) is actually considered the most specific prognostic factor for uveal melanoma patients.
Parrozzani, Raffaele
core  

Transcriptomic Profiling of SLC and ABC Transporters in the Human Term Placenta

Clinical Pharmacology &Therapeutics, EarlyView.
Solute carriers (SLC) and ATP‐binding cassette (ABC) transporters are essential for placental solute exchange and fetal protection, yet their transcriptomic profiles in the human placenta remain poorly characterized. Although fetal sex influences placental development and function, its impact on transporter expression is unclear.
Elijah Marsh Jung, Nicholas Ieronimakis, Bothaina Mousa, Emily D. Sheikh, Sarah E. Ligon, Joshua W. Monson, Jennifer R. Damicis, Hillary J. Kinsman, Lydia E. Bettridge, Samuel L.M. Arnold, Edward J. Kelly, Jashvant D. Unadkat, Joanne Wang   +12 more
wiley   +1 more source

Chromosome microarray analysis combined with karyotype analysis is a powerful tool for the detection in pregnant women with high-risk indicators. [PDF]

BMC Pregnancy Childbirth, 2023
Qian G, Cai L, Yao H, Dong X.
europepmc   +1 more source

Refining the electroclinical phenotype of 15q11.2 microdeletion: EEG biomarker overlap with Angelman syndrome

Epileptic Disorders, EarlyView.
Abstract The 15q11.2 microdeletion is a chromosomal condition associated with a broad epileptic phenotype. It is differentiated from Angelman syndrome, which is typically a larger maternal deletion in an overlapping area. We describe a patient with a 15q11.2 microdeletion that has clinical and EEG biomarker features similar to those seen in Angelman ...
Hok Leong Chin, Joshua Chang, Douglas Nordli III   +2 more
wiley   +1 more source

Application of chromosomal microarray analysis for fetuses with nasal bone agenesis or hypoplasia

Molecular Cytogenetics
Objective To explore the utility of microarray technology in prenatal diagnosis of nasal bone agenesis or hypoplasia. Methods Between July 2018 to October 2023, several cases of abnormal nasal bone development were diagnosed via ultrasound at county and ...
Keqin Jin, Xiayuan Xu, Jun Zhang, Yue Qian, Yanfen Yang, Shuangshuang Shen, Min Hu, Jianfeng Luo, Na Li   +8 more
doaj   +1 more source

Electroclinical phenotypes—genetic characterization of developmental and epileptic encephalopathies in a cohort study

Epileptic Disorders, EarlyView.
Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman, Fulya Kurekci, Sinan Akbas, Ceyda Oney, Mehmet Akif Kilic, Hulya Maras Genc, Ayca Dilruba Aslanger, Edibe Pembegul Yildiz   +7 more
wiley   +1 more source