Results 121 to 130 of about 18,846 (258)

Resolving the gene expression maps of human first-trimester chorionic villi with spatial transcriptome. [PDF]

Front Cell Dev Biol, 2022
Liu Z, Zhai M, Zhang Q, Yang T, Wan Z, Li J, Liu X, Xu B, Du L, Chan RWS, Zhang L, Yeung WSB, Cheung KW, Chiu PCN, Wang WJ, Lee CL, Gao Y.   +16 more
europepmc   +1 more source

Mixed Gonadal Dysgenesis: A Comprehensive Review of Clinical Spectrum, Diagnostic Strategies, and Management Approaches

Clinical Endocrinology, Volume 104, Issue 2, Page 92-102, February 2026.
ABSTRACT Background Mixed gonadal dysgenesis (MGD) is a rare form of differences in sex development (DSD) typically associated with 45,X/46,XY mosaicism. The phenotypic presentation of MGD varies from atypical genitalia to typical male or female appearances often associated with Turner stigmata.
Dinesh Giri, Sushil Yewale, Hannah Hickingbotham, Cara Williams, Mohamed Shalaby, Julie Alderson, Julie Park   +6 more
wiley   +1 more source

Transcriptomic analysis of stem cells from chorionic villi uncovers the impact of chromosomes 2, 6 and 22 in the clinical manifestations of Down syndrome. [PDF]

Stem Cell Res Ther, 2023
Vaiasicca S, Melone G, James DW, Quintela M, Preziuso A, Finnell RH, Conlan RS, Francis LW, Corradetti B.   +8 more
europepmc   +1 more source

Biochemical Testing Promotes Interpretation of Variants of Uncertain Significance in Prenatal Genetic Disease Testing in Four Organic Acidurias

Clinical Genetics, Volume 109, Issue 2, Page 211-217, February 2026.
This review demonstrates how amniotic fluid biochemical testing provides critical phenotypic evidence (ACMG PP4) for reclassifying variants of uncertain significance (VUS) in prenatal organic acidurias. Integrating metabolite analysis with genetic testing enhances diagnostic accuracy and enables informed clinical decisions for affected families ...
Kaili Yin, Qingwei Qi
wiley   +1 more source

Apoptotic Receptors and CD107a Expression by NK Cells in an Interaction Model with Trophoblast Cells

Current Issues in Molecular Biology
Natural killer cells (NK cells) exert cytotoxicity towards target cells in several ways, including the expression of apoptosis-mediating ligands (TRAIL, FasL).
Valentina A. Mikhailova, Dmitry I. Sokolov, Polina V. Grebenkina, Dmitry O. Bazhenov, Igor P. Nikolaenkov, Igor Yu. Kogan, Areg A. Totolian   +6 more
doaj   +1 more source

The Bacterial DNA Profiling of Chorionic Villi and Amniotic Fluids Reveals Overlaps with Maternal Oral, Vaginal, and Gut Microbiomes. [PDF]

Int J Mol Sci, 2023
Campisciano G, Zanotta N, Quadrifoglio M, Careri A, Torresani A, Cason C, De Seta F, Ricci G, Comar M, Stampalija T.   +9 more
europepmc   +1 more source

Prevalence of Severe Thalassemia and Performance of Prenatal Screening Tests Among Pregnant Women at Siriraj Thalassemia Center in Thailand

Clinical and Translational Science, Volume 19, Issue 2, February 2026.
ABSTRACT Severe thalassemia remains a significant public health concern in Southeast Asia. Prenatal screening is an effective strategy for early detection and prevention. This study aimed to determine the prevalence of severe thalassemia and assess the performance of prenatal screening at the Siriraj Thalassemia Center, Siriraj Hospital, Thailand.
Kwandao Malasai, Usa Chaikledkaew, Pattarawalai Talungchit, Sitaporn Youngkong, Wanvisa Udomsinprasert, Chanin Limwongse, Jiraphun Jittikoon   +6 more
wiley   +1 more source

Lipid imbalance and inflammatory oxylipin cascade at the maternal-fetal interface in recurrent spontaneous abortion

Heliyon
Background: Recurrent spontaneous abortion (RSA) is intricately linked to metabolic dysregulation at the maternal-fetal interface during early gestation.
Hao Liu, Huijia Chen, Ting Han, Xin Wang, Jingcong Dai, Xiaojia Yang, ShanAn Chan, Richard D. Cannon, Yang Yang, Hatem Mousa, Shufang Chang, Ruiqi Chang, Ting-Li Han   +12 more
doaj   +1 more source

Protocol for Increasing the Sensitivity of MS-Based Protein Detection in Human Chorionic Villi. [PDF]

Curr Issues Mol Biol, 2022
Shkrigunov T, Pogodin P, Zgoda V, Larina O, Kisrieva Y, Klimenko M, Latyshkevich O, Klimenko P, Lisitsa A, Petushkova N.   +9 more
europepmc   +1 more source

KBG Syndrome: A Case Report and Longitudinal Assessment of Long‐Acting Recombinant Human Growth Hormone Therapy

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT This case analysis examines the clinical data, molecular genetic testing results, and 20‐month clinical data of long‐acting recombinant human growth hormone (rhGH) treatment in a child with KBG syndrome (KBGS). The child exhibited a c.1591delG frameshift mutation in the ANKRD11 gene associated with KBGS, a variant not previously reported ...
Hui Nan, Pu Zhang, Jing Qian
wiley   +1 more source