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A novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome.
Hereditas
January 2025
Key Laboratory of Reproductive Health Diseases Research and Translation of Ministry of Education & Key Laboratory of Human Reproductive Medicine and Genetic Research of Hainan Provincie & Hainan Provincial Clinical Research Center for Thalassemia, The First Affiliated Hospital of Hainan Medical University, Hainan Medical University, Haikou, Hainan, 571101, China.
Background: The dynein cytoplasmic two heavy chain 1 (DYNC2H1) gene encodes a cytoplasmic dynein subunit. Cytoplasmic dyneins transport cargo towards the minus end of microtubules and are thus termed the "retrograde" cellular motor. Mutations in DYNC2H1 are the main causative mutations of short rib-thoracic dysplasia syndrome type III with or without polydactyly (SRTD3).
View Article and Find Full Text PDFESR Essentials: imaging of common paediatric pulmonary diseases-practice recommendations by the European Society of Paediatric Radiology.
Eur Radiol
January 2025
Departments of Radiology and Nuclear Medicine, Erasmus MC - Sophia Children's Hospital, Rotterdam, the Netherlands.
Chest imaging in children presents unique challenges due to varying requirements across age groups. For chest radiographs, achieving optimal images often involves careful positioning and immobilisation techniques. Antero-posterior projections are easier to obtain in younger children, while lateral decubitus radiographs are sometimes used when expiratory images are difficult to obtain and for free air exclusion.
View Article and Find Full Text PDFMental Health Aspects of Genetic Screening and Testing in Obstetrics and Gynecology.
Obstet Gynecol Clin North Am
March 2025
Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, UC Davis Health, Sacramento, CA, USA. Electronic address:
Availability of genetic testing and screening options has advanced significantly, and increasingly becoming included in obstetric (OB) and gynecologic practices. Advanced technologies have caused genetic screening to become more complex. Genetic screening is recommended for all pregnant patients and is routinely offered in OBs and gynecology.
View Article and Find Full Text PDFMetabolic Profiles of Pregnancy with Polycystic Ovary Syndrome: Insights into Maternal-Fetal Metabolic Communication.
J Clin Endocrinol Metab
January 2025
Department of Obstetrics and Gynecology, Women and Children's Hospital of Chongqing Medical University (Chongqing Health Center for Women and Children), Chongqing, China.
Context: PCOS pregnancies are linked to metabolic disorders affecting maternal and fetal outcomes, with maternal metabolites differing from those in normal pregnancies.
Objective: To investigate the metabolic communication at the maternal-fetal interface in PCOS pregnancies.
Design: Placenta and umbilical cord serum were analyzed using gas chromatography-mass spectrometry.
Application of copy number variation sequencing combined with whole exome sequencing in prenatal left-right asymmetry disorders.
BMC Genomics
January 2025
Department of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Jiefang Avenue 1095, Wuhan, Hubei, 430030, China.
Background: Left-right (LR) asymmetry disorders present a complex etiology, with genetic factors emerging as a primary contributor. This study aims to explore the genetic underpinnings of chromosomal variants and individual genes in fetuses afflicted with prenatal LR asymmetry disorder.
Methods: Through a retrospective analysis conducted between 2020 and 2023 at Tongji Hospital, Huazhong University of Science and Technology, genetic outcomes of LR asymmetric disorder were scrutinized utilizing copy number variation sequencing (CNV-seq) and whole exome sequencing (WES) methodologies.
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