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Down syndrome

Caregiver-reported social impacts in down syndrome regression disorder

Katherine N. Chow, Lilia Kazerooni, Maeve C. Lucas, Samuel T. Otey, Mariam M. Yousuf, Ruth Brown, Eileen A. Quinn, Jonathan D. Santoro

published 04 Feb 2026

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Elevated mortality and upregulated SARS-CoV-2-associated pathways in innate and adaptive immune cells from individuals with Down syndrome

Daniella Balduino Victorino, Jackeline Moraes Malheiros, Felipe Ten-Caten, Victor Hugo Cardoso Betta, Felipe Farinha Saad Barbosa, Khader Ghneim, Fernanda Caroline Coirada, Fernanda Romano Bruno, Giuliana Xavier de Medeiros, Cassia Silveira, Christina Gavegnano, Robert Balderas, Ana Claudia Brandao, Edward Yang, Helder Nakaya, Gabriela A. Wagner, Luciene Covolan, Susan Pereira Ribeiro

published 05 Jan 2026

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Genetic etiology and pregnancy outcomes of abnormal fluid accumulation in fetus: A retrospective cohort study

Meiying Cai, Na Lin, Linjuan Su, Meimei Fu, Hailong Huang, Liangpu Xu

published 16 Dec 2025

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Cell-free DNA screening for trisomies 21, 18, and 13: Clinical application and accuracy evaluation

Xiangmei Sun, Yuyi Ying, Caiping Chen, Xiaoliang Shi

published 08 Oct 2025

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A comparison of DNA methylation detection between HiFi sequencing and whole genome bisulfite sequencing in monozygotic twins with Down syndrome

Kanyanee Promsawan, Chalurmpon Srichomthong, Monnat Pongpanich, Vorasuk Shotelersuk

published 05 Aug 2025

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Rare and novel variant load threshold for KIF7, GJA1 and PDE1C genes elevates the risk of severity of congenital heart defects in Down syndrome

Agnish Ganguly, Samudra Pal, Srilagna Chatterjee, Madhusudan Das, Sumantra Sarkar, Sujay Ghosh

published 26 Jun 2025

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Progression of keratoconus in the contralateral eye following acute corneal hydrops: A retrospective study

James Steven Lewis, Charles N.J. McGhee, Jay Meyer

published 22 May 2025

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Prevalence of ophthalmic abnormalities and refractive changes in Taiwanese children with Down syndrome

Chia-Ping Chen, Tzu-Hsun Tsai, Yao-Lin Liu, Ni-Chung Lee, Che-Ning Yang, Chao-Wen Lin

published 21 May 2025

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Perception of four intellectual and developmental disabilities based on search engine and news portrayal

Lillian J. Droscha, Sophia Chung, Zoe Li-Khan, Ashley Scott, Eric Rubenstein

published 10 Feb 2025

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Reduction of Cystatin B results in increased cathepsin B activity in disomic but not Trisomy 21 human cellular and mouse models

Yixing Wu, Karen Cleverley, Frances K. Wiseman

published 22 Jan 2025

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Comparison between DSQIID total / sub-item scores and plasma p-tau elevation in adults with Down’s syndrome

Makiko Shinomoto, Chisen Takeuchi, Harutsugu Tatebe, Fukiko Kitani-Morii, Takuma Ohmichi, Yuzo Fujino, Kanako Menjo, Naoto Terada, Miho Osako, Yoko Mochizuki, Satoshi Teramukai, Takahiko Tokuda, Toshiki Mizuno, Takashi Kasai

published 09 Dec 2024

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Vocational identity in decision-making for terminating/continuation of pregnancy following non-invasive prenatal testing and hypothetical diagnosis among Japanese university students

Shodai Sunagozaka, Atsuro Tsutsumi

published 30 Aug 2024

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A crossover study on attentional focus and gross motor performance in individuals with Down syndrome

Luca Cavaggioni, Luca Paolo Ardigò, Paolo Castiglioni, Athos Trecroci, Linda Casalini, Damiano Formenti, Giampiero Merati

published 22 Aug 2024

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