Results 161 to 170 of about 55,479 (231)

Application of Chromosomal Karyotype Analysis Combined With Chromosomal Microarray Analysis in the Amniotic Fluid of Advanced Maternal Age. [PDF]

J Clin Lab Anal
Liu C, Lu Y, Zhang B, Yu L, He J, Ji Y.
europepmc   +1 more source

Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration

Clinical Genetics, EarlyView.
Whole exome sequencing for Romanian patients with neurodevelopmental disorders through an international collaboration—this study has provided a 50% diagnostic yield for patients with NDDs (27 positive results from 54 patients), supporting the implementation of a WES analysis that can identify SNVs, small INDELs, CNVs, and mitochondrial variants ...
Alexandru Caramizaru, Cristina Durac, Andreea Dumitrescu, Alexandru Calota‐Dobrescu, Alix de Becdelièvre, Marina Konyukh, Denise Cassandrini, Hane Lee, Go Hun Seo, Seung Woo Ryu, Mihai Cucu, Iuliana Manuela Dragomir, Andreea Catana, Homa Tajsharghi, Edoardo Malfatti, Florin Burada, Amelia Dobrescu   +16 more
wiley   +1 more source

Prenatal diagnosis and genetic assessment of fetuses with single umbilical artery using chromosomal microarray analysis: a seven-year single-center retrospective study. [PDF]

BMC Pregnancy Childbirth
Zhuang J, Huang N, Chen Y, Wu J, Ye X, Chen C.   +5 more
europepmc   +1 more source

Behind the scenes: how the EMILIN/Multimerin family shapes the cancer landscape

The FEBS Journal, EarlyView.
The EMILIN/Multimerin family members regulate key hallmarks of cancer—including apoptosis, angiogenesis, metastasis, and tumor microenvironment remodeling. As indicated, their function in immune evasion, drug resistance, and metabolic reprogramming remains largely unexplored.
Evelina Poletto, Naike Casagrande, Emanuele Di Siena, Greta Carobolante, Lucrezia Camicia, Giorgia Schinello, Samanta Muzzin, Enrica Timis, Paola Spessotto, Maurizio Mongiat   +9 more
wiley   +1 more source

Evaluating Chromosomal Mosaicism in Prenatal Diagnosis: The Complementary Roles of Chromosomal Microarray Analysis and Karyotyping. [PDF]

J Clin Lab Anal
Xu C, Xiong Y, Wang D, Zhang S, Wu X, Li M.   +5 more
europepmc   +1 more source

Expression profile of circular RNAs in type 2 diabetes mellitus patients with retinopathy

Journal of Diabetes Investigation, EarlyView.
ABSTRACT Aims/Introduction Diabetic retinopathy (DR) is a prevalent chronic complication of type 2 diabetes mellitus (T2DM), contributing significantly to vision impairment. Circular RNAs (circRNAs) have emerged as key regulators in the pathogenesis of DR.
Wencheng An, Bingyan Wang, Fang Chen, Bo An, Shujing Zhou, Lin Jiang, Zhijun Cui, Xiaohong Ou, Wei Huang, Huixian Yan   +9 more
wiley   +1 more source

Detection of chromosomal and gene abnormality with karyotyping, chromosomal microarray analysis and trio-based whole exome sequencing in pregnancies with fetal growth restriction: implications for precise prenatal diagnosis. [PDF]

BMC Pregnancy Childbirth
Chen Y, Cai M, Chen M, Pan X, Shen X, Song B, Cai X, Zhou L, Huang H.   +8 more
europepmc   +1 more source

The Evolving Landscape of CHD Genetics: A Contemporary Guide to Genetic Testing and Management

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Congenital heart disease (CHD) is the most common birth defect, affecting an estimated 9.4/1000 infants globally. The genetics of CHD is complex, with most cases thought to have multifactorial aetiology, implicating both genetic and environmental factors.
Bridget R. O'Malley, Gary F. Sholler, Janine Smith, Gillian M. Blue   +3 more
wiley   +1 more source

<i>PSG</i> and Other Candidate Genes as Potential Biomarkers of Therapy Resistance in B-ALL: Insights from Chromosomal Microarray Analysis and Machine Learning. [PDF]

Int J Mol Sci
Surimova V, Risinskaya N, Kotova E, Abdulpatakhov A, Vasileva A, Chabaeva Y, Starchenko S, Aleshina O, Kapranov N, Galtseva I, Ponomareva A, Kanivets I, Korostelev S, Kulikov S, Sudarikov A, Parovichnikova E.   +15 more
europepmc   +1 more source

Epigenetic Regulation in the Pathogenesis of Periodontitis

Journal of Periodontal Research, EarlyView.
The aim of this narrative literature review was to identify epigenetic marks associated with periodontitis and to place them in a biological context. The literature was reviewed based on pre‐defined criteria. Cell type specific chromatin and mRNA modifications were included.
Henrik Dommisch, Arne Sönke Schäfer, Denica Kuzmanova, Dominique S. Michaud   +3 more
wiley   +1 more source