Results 111 to 120 of about 10,637 (245)

Clinically Irrelevant Terminal 16q21 Deletion Detected by NIPT Is Attributable to Inherited Fragility at FRA16B

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 348-352, February 2026.
ABSTRACT Genome‐wide non‐invasive prenatal testing (NIPT) is a powerful tool for prenatal detection of the common aneuploidies causing Down‐, Edwards‐, and Patau syndrome. Its genome‐wide reach also enables the detection of unbalanced structural chromosomal abnormalities.
Servi J. C. Stevens, Wanwisa van Dijk, Nicole Y. Souren, Merryn V. E. Macville, Guillaume van de Zande, Brigitte H. W. Faas, Bart de Koning, Arthur van den Wijngaard, Sonja de Munnik, Masoud Zamani Esteki   +9 more
wiley   +1 more source

Accelerated placental aging in early onset preeclampsia pregnancies identified by DNA methylation. [PDF]

, 2017
Aim: To determine whether dynamic DNA methylation changes in the human placenta can be used to predict gestational age. Materials & methods: Publicly available placental DNA methylation data from 12 studies, together with our own dataset, using Illumina ...
Bianco-Miotto, T., Breen, J., Leemaqz, S., Mayne, B., Roberts, C., Smith, A.   +5 more
core   +1 more source

Chromosomal microarray analysis on uncultured chorionic villus sampling can be complicated by confined placental mosaicism for aneuploidy and microdeletions [PDF]

, 2018
Shen Gu, Madison Jernegan, Ignatia B. Van den Veyver, Sandra Peacock, Janice Smith, Amy M. Breman   +5 more
openalex   +1 more source

CRISPR‐Cas9‐Generated TXNDC15 c.560delA Homozygous Mouse Model Exhibits Meckel–Gruber Syndrome Phenotype

genesis, Volume 64, Issue 1, February 2026.
ABSTRACT To determine whether TXNDC15 variation causes Meckel–Gruber syndrome (MKS), we assessed the pathogenicity of the frameshift variant c.560delA. A CRISPR–Cas9 generated mouse model carrying the equivalent Txndc15 c.512delA mutation was analyzed at embryonic day 15.5.
Yang Liu, Hui Wang, Liyuan Chen, Xiaoxia Wu, Zhiyong Xu, Qingfa Huang, Hu Zhang, Xiushu Cao, Xinyuan Liang, Xingjian Zhong, Caiqun Luo   +10 more
wiley   +1 more source

IONA test for first-trimester detection of trisomies 21, 18 and 13 [PDF]

, 2015
OBJECTIVE: To assess the potential performance of screening for fetal trisomies 21, 18 and 13 by cell-free DNA (cfDNA) analysis of maternal blood using the IONA\uae test.
Dumidrascu-Diris, D., Fantasia, I., Francisco, C., Nicolaides, K.H., Poon, L.C   +4 more
core   +1 more source

Genomic autopsy in neonatal-onset mucopolysaccharidosis type VII: Key for diagnosis and future planning. [PDF]

Pediatr Int
Pediatrics International, Volume 68, Issue 1, January/December 2026.
Okuno T, Ikawa M, Yuasa M, Muramoto A, Fu L, Matsumoto N, Watanabe A.   +6 more
europepmc   +2 more sources

A Novel Human Cellular System for Studying Normal Aging and for Anti‐Aging Discovery

Aging Cell, Volume 25, Issue 2, February 2026.
This study introduces a human cellular aging model using placental trophoblasts (hTSC‐STBs) that mimics key aging features like senescence and genomic instability. It aligns with human tissue aging and responds to anti‐aging treatments, offering a scalable platform to screen potential therapies and bridge lab findings to clinical applications ...
Zhen Feng, Cheuk Shuen Li, Haifeng Fu, Wenxin Jiang, Weiyu Zhang, Yingzhang Huang, Yunying Huang, Timothy Theodore Ka Ki Tam, Yang Li, Fang Liu, Liming Lu, Yin Lau Lee, William Shu Biu Yeung, Gordon Dougan, Pentao Liu   +14 more
wiley   +1 more source

Array comparative genomic hybridization (a-CGH): estado-da-arte e perspectiva [PDF]

, 2014
Guastalla Civil Hospital Department of Obstetrics and GynecologyUniversidade Federal de São Paulo (UNIFESP) Escola Paulista de Medicina Departamento de ObstetríciaUNIFESP, EPM, Depto.
Araujo Júnior, Edward, Rolo, Liliam Cristine, Tonni, Gabriele   +2 more
core   +2 more sources

The Secretome of Human Trophoblast Stem Cells Attenuates Senescence‐Associated Traits

Aging Cell, Volume 25, Issue 2, February 2026.
Human trophoblast stem cell‐derived secretome/conditioned medium (hTSC‐CM) and the extracellular vesicles (EVs) therein suppress DNA damage and NF‐κB activation in senescent fibroblasts, in turn reducing the production of senescence‐associated secretory phenotype (SASP) factors. This study highlights hTSC‐CM and EVs as potential senotherapeutic agents.
Kotb Abdelmohsen, Jennifer L. Martindale, Martina Rossi, Chang Hoon Shin, Apala Pal, Rachel Munk, Martin Salamini‐Montemurri, Mirko Baranzini, Ethan M. Arends, Maja Mustapic, Yuta Lee, Jau‐Nan Lee, Sicco H. Popma, Justin Hu, Nathan Duda, Carlos J. Nogueras‐Ortiz, Dimitrios Kapogiannis, Chang‐Yi Cui, Myriam Gorospe   +18 more
wiley   +1 more source

Glycogenosis type II (acid maltase deficiency) [PDF]

, 1995
Glycogen storage disease type II (GSD II/glycogenosis type II/Pompe's disease/acid maltase deficiency) is caused by the deficiency of lysosomal α-glucosidase resulting in lysosomal accumulation of glycogen.
Bijvoet, A.G.A. (Agnes), Diggelen, O.P. (Otto) van, Hermans, M.M.P. (Monique), Kleijer, W.J. (Wim), Kroos, M.A. (Marian), Ploeg, A.T. (Ans) van der, Reuser, A.J.J. (Arnold), Verbeet, M.Ph. (Martin)   +7 more
core   +1 more source