| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| J Seth VanZant, Kishore Vellod. Financial impact of a specialized Down syndrome clinic: Implications and support for institutional support of specialty care clinics. American journal of medical genetics. Part A. 2022-12-08. PMID:36478040. |
individuals with down syndrome (ds) have specific health care needs and require additional screening and surveillance for commonly associated conditions. |
2022-12-08 |
2023-08-14 |
Not clear |
| Robert Hwang Jr, Lam-Ha Dang, Jacinda Chen, Joseph H Lee, Catherine Marque. Triplication of Synaptojanin 1 in Alzheimer's Disease Pathology in Down Syndrome. Current Alzheimer research. 2022-12-05. PMID:36464875. |
down syndrome (ds), caused by triplication of human chromosome 21 (hsa21) is the most common form of intellectual disability worldwide. |
2022-12-05 |
2023-08-14 |
human |
| Johannes Levin, Alkomiet Hasan, Irene Alba Alejandre, Irene Lorenzi, Volker Mall, Tilman R Rohre. Diseases Affecting Middle-Aged and Elderly Individuals With Trisomy 21. Deutsches Arzteblatt international. issue Forthcoming. 2022-12-05. PMID:36468261. |
the life expectancy of individuals with trisomy 21 (down syndrome, ds) has risen to more than 60 years over the past few decades. |
2022-12-05 |
2023-08-14 |
Not clear |
| Huanyao Liu, Shanshan Huang, Weijia Wang, Huiyan Wang, Weijun Huang, Zhichen Zhai, Ding Wang, Yubao Fan, Jiaqi Sun, Dairui Li, Weicheng Chiu, Xingqiang Lai, Jixiao Zeng, Qiong Ke, Tao Wang, Andy Peng Xiang, Yong Yuan, Xinchun Zhang, Weiqiang L. Migration deficits of the neural crest caused by CXADR triplication in a human Down syndrome stem cell model. Cell death & disease. vol 13. issue 12. 2022-12-05. PMID:36470861. |
down syndrome (ds) is the most common chromosomal abnormality in live-born infants and is caused by trisomy of chromosome 21. |
2022-12-05 |
2023-08-14 |
human |
| Sean J Farley, Alla Grishok, Ella Zeldic. Shaking up the silence: consequences of HMGN1 antagonizing PRC2 in the Down syndrome brain. Epigenetics & chromatin. vol 15. issue 1. 2022-12-03. PMID:36463299. |
intellectual disability is a well-known hallmark of down syndrome (ds) that results from the triplication of the critical region of human chromosome 21 (hsa21). |
2022-12-03 |
2023-08-14 |
human |
| Furkan Erdoğan, Ayla Güve. Is there a secular trend regarding puberty in children with down syndrome? Frontiers in endocrinology. vol 13. 2022-12-02. PMID:36457553. |
there are very few studies on the age of onset and end of puberty in children with down syndrome (ds). |
2022-12-02 |
2023-08-14 |
Not clear |
| Malin Svensson, Magnus Ekström, Josefin Sundh, Mirjam Ljunggren, Ludger Grote, Andreas Pal. Adherence to CPAP therapy in Down syndrome: the population-based DISCOVERY study. Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine. 2022-12-02. PMID:36458740. |
persons with down syndrome (ds) have increased risk of obstructive sleep apnea (osa) needing continuous positive airway pressure (cpap), but data on the therapy and outcomes in this population are scarce. |
2022-12-02 |
2023-08-14 |
Not clear |
| Rebecca Shields, Aaron Kaat, Stephanie Sansone, Claire Michalak, Jeanine Coleman, Talia Thompson, Forrest McKenzie, Andrew Dakopolos, Karen Riley, Elizabeth Berry-Kravis, Keith Widaman, Richard C Gershon, David Hess. Sensitivity of the NIH Toolbox to Detect Cognitive Change in Individuals With Intellectual and Developmental Disability. Neurology. 2022-12-02. PMID:36460468. |
this study's aim was to evaluate the sensitivity of the nih-toolbox cognitive battery (nihtb-cb) to detect developmental changes in groups with id - fragile x syndrome (fxs), down syndrome (ds), and other intellectual disability (oid) - and to provide further support for its use as an outcome measure for treatment trials. |
2022-12-02 |
2023-08-14 |
Not clear |
| Karla Hernández, Luis Godoy, Gunnar Newquist, Riley Kellermeyer, Maryam Alavi, Dennis Mathew, Thomas Kid. Dscam1 overexpression impairs the function of the gut nervous system in Drosophila. Developmental dynamics : an official publication of the American Association of Anatomists. 2022-12-01. PMID:36454543. |
down syndrome (ds) patients have a 100-fold increase in the risk of hirschsprung syndrome of the colon and rectum (hscr), a lack of enteric neurons in the colon. |
2022-12-01 |
2023-08-14 |
drosophila_melanogaster |
| Karla Hernández, Luis Godoy, Gunnar Newquist, Riley Kellermeyer, Maryam Alavi, Dennis Mathew, Thomas Kid. Dscam1 overexpression impairs the function of the gut nervous system in Drosophila. Developmental dynamics : an official publication of the American Association of Anatomists. 2022-12-01. PMID:36454543. |
the leading ds candidate gene is trisomy of the down syndrome cell adhesion molecule (dscam). |
2022-12-01 |
2023-08-14 |
drosophila_melanogaster |
| Rika Kanezaki, Tsutomu Toki, Kiminori Terui, Tomohiko Sato, Akie Kobayashi, Ko Kudo, Takuya Kamio, Shinya Sasaki, Koji Kawaguchi, Kenichiro Watanabe, Etsuro It. Mechanism of KIT gene regulation by GATA1 lacking the N-terminal domain in Down syndrome-related myeloid disorders. Scientific reports. vol 12. issue 1. 2022-11-29. PMID:36447001. |
children with down syndrome (ds) are at high risk of transient abnormal myelopoiesis (tam) and myeloid leukemia of ds (ml-ds). |
2022-11-29 |
2023-08-14 |
Not clear |
| Brian G Skotko, Kavita Krell, Kelsey Haugen, Amy Torres, Amber Nieves, Amar Dhan. Personal social networks of people with Down syndrome. American journal of medical genetics. Part A. 2022-11-28. PMID:36437642. |
to assess whether these benefits can also be extended to people with down syndrome (ds), we studied whether and how personal networks can be measured in this population. |
2022-11-28 |
2023-08-14 |
human |
| Yi Li, Veronica Costiniti, Guilherme H Souza Bomfim, Maria Neginskaya, Ga-Yeon Son, Beverly Rothermel, Evgeny Pavlov, Rodrigo S Lacru. Overexpression of Cells. vol 11. issue 22. 2022-11-26. PMID:36429004. |
overexpression of the regulator of calcineurin (rcan1) has been implicated in the pathogenesis of down syndrome (ds). |
2022-11-26 |
2023-08-14 |
Not clear |
| Brian G Skotko, Alexandra Garza Flores, Ibrahim Elsharkawi, Vasiliki Patsiogiannis, Mary Ellen McDonough, Damiano Verda, Marco Muselli, Roberto Hornero, David Gozal, Eric A Mackli. Validation of a predictive model for obstructive sleep apnea in people with Down syndrome. American journal of medical genetics. Part A. 2022-11-25. PMID:36426646. |
detecting obstructive sleep apnea (osa) is important to both prevent significant comorbidities in people with down syndrome (ds) and untangle contributions to other behavioral and mental health diagnoses. |
2022-11-25 |
2023-08-14 |
human |
| Ira T Lott, Katharine A Kirby, Eric Doran, Joshua D Gril. Research attitudes in families of individuals with Down syndrome: importance for clinical trials. Alzheimer's research & therapy. vol 14. issue 1. 2022-11-24. PMID:36419175. |
individuals with down syndrome (ds) are increasingly eligible for clinical trial intervention, particularly for the treatment or prevention of alzheimer disease (ad). |
2022-11-24 |
2023-08-14 |
Not clear |
| B C Helsel, R P Shook, B Forseth, M L Dreyer Gillette, M Polfuss, B Miller, P Posson, R Steele, J P Thyfault, L T Ptome. Resting energy expenditure in adolescents with Down syndrome: a comparison of commonly used predictive equations. Journal of intellectual disability research : JIDR. 2022-11-24. PMID:36423896. |
adolescents with down syndrome (ds) are two to three times more likely to be obese than their typically developing peers. |
2022-11-24 |
2023-08-14 |
Not clear |
| Yuji Ito, Tadashi Ito, Atsuko Ohno, Tetsuo Kubota, Kaori Tanemura, Sho Narahara, Erina Kataoka, Reina Hyodo, Yuichiro Sugiyama, Tetsuo Hattori, Hiroyuki Kidokoro, Hideshi Sugiura, Koji Noritake, Jun Natsume, Nobuhiko Och. Gait performance and dual-task costs in school-aged children with Down syndrome. Brain & development. 2022-11-24. PMID:36424235. |
this cross-sectional observational study aimed to assess gait performance, its correlation with physical functions, and its dual-task costs in children with down syndrome (ds), to investigate their gait adaptations. |
2022-11-24 |
2023-08-14 |
Not clear |
| S Gimenez, E Tapia, J Fortea, D Levedowski, R Osorio, J Hendrix, H Hillerstro. Caregiver knowledge of obstructive sleep apnoea in Down syndrome. Journal of intellectual disability research : JIDR. 2022-11-23. PMID:36416001. |
down syndrome (ds) population has a very high prevalence of obstructive sleep apnoea (osa), but this remains underdiagnosed. |
2022-11-23 |
2023-08-14 |
Not clear |
| Nagwa A Meguid, Maha Hemimi, Said A S Ghozlan, Wafaa A Kandeel, Adel F Hashish, Amr S Gouda, Walaa S Nazim, Magda F Mohame. Differential expression of cystathionine beta synthase in adolescents with Down syndrome: impact on adiposity. Journal of diabetes and metabolic disorders. vol 21. issue 2. 2022-11-21. PMID:36404855. |
obesity is more prevalent among people with down syndrome (ds) compared to general population. |
2022-11-21 |
2023-08-14 |
Not clear |
| Lauren T Ptomey, Amy E Bodde, Mary Hastert, Kameron B Suire, Brian C Helsel, Anna M Gorczyca, Richard A Washburn, Annie M Rice, Joseph E Donnell. Weight loss in adolescents with down syndrome compared to adolescents with other intellectual disabilities enrolled in an 18-month randomized weight management trial. Frontiers in pediatrics. vol 10. 2022-11-21. PMID:36405842. |
there is limited information on the efficacy of weight management interventions in adolescents with down syndrome (ds). |
2022-11-21 |
2023-08-14 |
Not clear |