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Items: 1 to 20 of 500

1.
Down Syndrome Biobank Consortium: A perspective
Iban Aldecoa, Isabel Barroeta, Steven L. Carroll, Juan Fortea, Anah Gilmore, Stephen D. Ginsberg, Samuel J. Guzman, Eric D. Hamlett, Elizabeth Head, Sylvia E. Perez, Huntington Potter, Laura Molina‐Porcel, Ruma Raha‐Chowdhury, Thomas Wisniewski, William H. Yong, Shahid Zaman, Sujay Ghosh, Elliott J. Mufson, Ann‐Charlotte Granholm
Alzheimers Dement. 2024 Mar; 20(3): 2262–2272. Published online 2024 Jan 25. doi: 10.1002/alz.13692
PMCID:
PMC10984425
ArticlePDF–8.1M
2.
Clinically significant findings in a decade‐long retrospective study of prenatal chromosomal microarray testing
Joie O. Olayiwola, Mohammad Marhabaie, Daniel Koboldt, Theodora Matthews, Amy Siemon, Danielle Mouhlas, Taylor Porter, George Kyle, Cortlandt Myers, Hui Mei, Ying‐Chen Claire Hou, Melanie Babcock, Jesse Hunter, Kathleen M. Schieffer, Yassmine Akkari, Shalini Reshmi, Catherine Cottrell, Mariam T. Mathew, Marco L. Leung
Mol Genet Genomic Med. 2024 Mar; 12(3): e2349. Published online 2024 Jan 23. doi: 10.1002/mgg3.2349
PMCID:
PMC10958178
ArticlePDF–1.6M
3.
Pleiotropic effects of trisomy and pharmacologic modulation on structural, functional, molecular, and genetic systems in a Down syndrome mouse model
Sergi Llambrich, Birger Tielemans, Ellen Saliën, Marta Atzori, Kaat Wouters, Vicky Van Bulck, Mark Platt, Laure Vanherp, Nuria Gallego Fernandez, Laura Grau de la Fuente, Harish Poptani, Lieve Verlinden, Uwe Himmelreich, Anca Croitor, Catia Attanasio, Zsuzsanna Callaerts-Vegh, Willy Gsell, Neus Martínez-Abadías, Greetje Vande Velde
eLife. 2024; 12: RP89763. Published online 2024 Mar 18. doi: 10.7554/eLife.89763
PMCID:
PMC10948151
ArticlePDF–3.3M
4.
19-base pair deletion polymorphism of the dihydrofolate reductase (DHFR) gene: maternal risk of Down syndrome and folate metabolism
Cristiani Cortez Mendes, Joice Matos Biselli, Bruna Lancia Zampieri, Eny Maria Goloni-Bertollo, Marcos Nogueira Eberlin, Renato Haddad, Maria Francesca Riccio, Hélio Vannucchi, Valdemir Melechco Carvalho, Érika Cristina Pavarino-Bertelli
Sao Paulo Med J. 2010; 128(4): 215–218. Published online 2010 Jul 1. doi: 10.1590/S1516-31802010000400008
PMCID:
PMC10938985
ArticlePDF–125K
5.
Gene Expression Studies in Down Syndrome: What Do They Tell Us about Disease Phenotypes?
Laura R. Chapman, Isabela V. P. Ramnarine, Dan Zemke, Arshad Majid, Simon M. Bell
Int J Mol Sci. 2024 Mar; 25(5): 2968. Published online 2024 Mar 4. doi: 10.3390/ijms25052968
PMCID:
PMC10932069
ArticlePDF–358K
6.
Chromosome balanced translocation in newborn fetus founded during prenatal diagnosis: Three cases reports
Lan Yao, Xun Kan, Yuxin Xia, Luyao Wang, Xueyu Zhao, Yingli Lu
Medicine (Baltimore) 2024 Mar 8; 103(10): e37345. Published online 2024 Mar 8. doi: 10.1097/MD.0000000000037345
PMCID:
PMC10919530
ArticlePDF–482K
7.
Alzheimer's polygenic risk scores are associated with cognitive phenotypes in Down syndrome
Priyanka Gorijala, M. Muaaz Aslam, Lam‐Ha T. Dang, L. Xicota, Maria V. Fernandez, Yun Ju Sung, Kang‐Hsien Fan, Eleanor Feingold, Ezequiel I. Surace, Jasmeer P Chhatwal, Christy L. Hom, Dominantly Inherited Alzheimer Network (DIAN), the Alzheimer's Disease Neuroimaging Initiative (ADNI), the NIA‐LOAD family study, for the Alzheimer's Biomarkers Consortium–Down Syndrome (ABC‐DS) Investigators, Sigan L. Hartley, Jason Hassenstab, Richard J. Perrin, Mark Mapstone, Shahid H Zaman, Beau M Ances, M. Ilyas Kamboh, Joseph H Lee, Carlos Cruchaga
Alzheimers Dement. 2024 Feb; 20(2): 1038–1049. Published online 2023 Oct 19. doi: 10.1002/alz.13506
PMCID:
PMC10916941
ArticlePDF–1021K
8.
Trisomy 21-driven metabolite alterations are linked to cellular injuries in Down syndrome
Juli Liu, Shaoxian Chen, Guiping Huang, Pengju Wen, Xianwu Zhou, Yueheng Wu
Cell Mol Life Sci. 2024; 81(1): 112. Published online 2024 Mar 3. doi: 10.1007/s00018-024-05127-0
PMCID:
PMC10909777
ArticlePDF–5.2M
9.
Synergistic roles of DYRK1A and GATA1 in trisomy 21 megakaryopoiesis
Ying Ting Sit, Kaoru Takasaki, Hyun Hyung An, Yan Xiao, Christian Hurtz, Peter A. Gearhart, Zhe Zhang, Paul Gadue, Deborah L. French, Stella T. Chou
JCI Insight. 2023 Dec 8; 8(23): e172851. Published online 2023 Oct 31. doi: 10.1172/jci.insight.172851
PMCID:
PMC10895998
ArticlePDF–1.9M
10.
Cases of trisomy 21 and trisomy 18 among historic and prehistoric individuals discovered from ancient DNA
Adam Benjamin Rohrlach, Maïté Rivollat, Patxuka de-Miguel-Ibáñez, Ulla Moilanen, Anne-Mari Liira, João C. Teixeira, Xavier Roca-Rada, Javier Armendáriz-Martija, Kamen Boyadzhiev, Yavor Boyadzhiev, Bastien Llamas, Anthi Tiliakou, Angela Mötsch, Jonathan Tuke, Eleni-Anna Prevedorou, Naya Polychronakou-Sgouritsa, Jane Buikstra, Päivi Onkamo, Philipp W. Stockhammer, Henrike O. Heyne, Johannes R. Lemke, Roberto Risch, Stephan Schiffels, Johannes Krause, Wolfgang Haak, Kay Prüfer
Nat Commun. 2024; 15: 1294. Published online 2024 Feb 20. doi: 10.1038/s41467-024-45438-1
PMCID:
PMC10879165
ArticlePDF–1000K
11.
Generation of CHOPi-008-B, a euploid iPSC line from a patient with Trisomy 21 and a GATA1 mutation
Kaoru Takasaki, Sara S. Kumar, Alyssa Gagne, Deborah L. French, Stella T. Chou
Stem Cell Res. Author manuscript; available in PMC 2024 Feb 16.
Published in final edited form as: Stem Cell Res. 2023 Oct; 72: 103198. Published online 2023 Sep 1. doi: 10.1016/j.scr.2023.103198
PMCID:
PMC10872805
ArticlePDF–678K
12.
A rare non-Robertsonian translocation involving chromosomes 15 and 21
Marcelo Razera Baruffi, Deise Helena Souza, Rosana Aparecida Bicudo Silva, Ester Silveira Ramos, Danilo Moretti-Ferreira
Sao Paulo Med J. 2013; 131(6): 427–431. Published online 2013 Dec 1. doi: 10.1590/1516-3180.2013.1316539
PMCID:
PMC10871814
ArticlePDF–871K
13.
miR-1202 acts as anti-oncomiR in myeloid leukaemia by down-modulating GATA-1S expression
Raffaele Sessa, Silvia Trombetti, Alessandra Lo Bianco, Giovanni Amendola, Rosa Catapano, Elena Cesaro, Fara Petruzziello, Maria D'Armiento, Giuseppe Maria Maruotti, Giuseppe Menna, Paola Izzo, Michela Grosso
Open Biol. 2024 Feb; 14(2): 230319. Published online Feburary 14, 2024. doi: 10.1098/rsob.230319
PMCID:
PMC10864098
ArticlePDF–1.4M
14.
Myeloid Proliferations Associated with Down Syndrome: Clinicopathologic Characteristics of Forty Cases from Five Large Academic Institutions
Tayler A. van den Akker, Yen-Chun Liu, Huifei Liu, Jennifer Chapman, Jennifer M. Levine, Olga K. Weinberg, Julia T. Geyer
Pathobiology. 2024 Feb; 91(1): 89–98. Published online 2023 Mar 30. doi: 10.1159/000530431
PMCID:
PMC10857798
Article
15.
Sex-specific developmental alterations in DYRK1A expression in the brain of a Down syndrome mouse model
Laura E. Hawley, Megan Stringer, Abigail J. Deal, Andrew Folz, Charles R. Goodlett, Randall J. Roper
Neurobiol Dis. Author manuscript; available in PMC 2024 Feb 5.
Published in final edited form as: Neurobiol Dis. 2024 Jan; 190: 106359. Published online 2023 Nov 20. doi: 10.1016/j.nbd.2023.106359
PMCID:
PMC10843801
ArticlePDF–1.2M
16.
Evaluation of chromosomal abnormalities in the postnatal cohort: A single‐center study on 14,242 patients
Hilal Akalin, Izem Olcay Sahin, Seyma Aktas Paskal, Busra Tan, Ezgi Yalcinkaya, Mikail Demir, Mustafa Yakubi, Busra Ozguc Caliskan, Ozlem Gokce Ekinci, Mehmet Ercan, Tugce Yasar Kucuk, Gizem Gokgoz, Aslihan Kiraz, Huseyin Per, Mahmut Tuncay Ozgun, Numan Baydilli, Yusuf Ozkul, Munis Dundar
J Clin Lab Anal. 2024 Jan; 38(1-2): e24997. Published online 2023 Dec 19. doi: 10.1002/jcla.24997
PMCID:
PMC10829689
ArticlePDF–392K
17.
Maternal age and the risk of fetal aneuploidy: A nationwide cohort study of more than 500 000 singleton pregnancies in Denmark from 2008 to 2017
Line Elmerdahl Frederiksen, Sofie Møller Ølgaard, Laura Roos, Olav Bjørn Petersen, Line Rode, Tanja Hartwig, Charlotte Kvist Ekelund, the Danish Central Cytogenetics Registry Study Group, Ida Vogel
Acta Obstet Gynecol Scand. 2024 Feb; 103(2): 351–359. Published online 2023 Nov 20. doi: 10.1111/aogs.14713
PMCID:
PMC10823394
ArticlePDF–1.2M
18.
Generation of two induced pluripotent stem cell lines from patients with Down syndrome
Wenjuan Zhu, Wenqiang Liu, Rebecca Yu, Melanie Manning, Anitra Waran Romfh, Joseph C. Wu
Stem Cell Res. Author manuscript; available in PMC 2024 Jan 22.
Published in final edited form as: Stem Cell Res. 2023 Oct; 72: 103204. Published online 2023 Sep 14. doi: 10.1016/j.scr.2023.103204
PMCID:
PMC10802983
ArticlePDF–1.0M
19.
Complement dysregulation and Alzheimer's disease in Down syndrome
Aurora Veteleanu, Sarah Pape, Kate Davies, Eleftheria Kodosaki, Abdul Hye, Wioleta M. Zelek, Andre Strydom, B. Paul Morgan
Alzheimers Dement. 2023 Apr; 19(4): 1383–1392. Published online 2022 Sep 23. doi: 10.1002/alz.12799
PMCID:
PMC10798358
ArticlePDF–1.0M
20.
Detection of chromosomal aneuploidy in ancient genomes
Kyriaki Anastasiadou, Marina Silva, Thomas Booth, Leo Speidel, Tony Audsley, Christopher Barrington, Jo Buckberry, Diana Fernandes, Ben Ford, Mark Gibson, Alexandre Gilardet, Isabelle Glocke, Katie Keefe, Monica Kelly, Mackenzie Masters, Jesse McCabe, Lauren McIntyre, Paola Ponce, Stephen Rowland, Jordi Ruiz Ventura, Pooja Swali, Frankie Tait, David Walker, Helen Webb, Mia Williams, Annsofie Witkin, Malin Holst, Louise Loe, Ian Armit, Rick Schulting, Pontus Skoglund
Commun Biol. 2024; 7: 14. Published online 2024 Jan 11. doi: 10.1038/s42003-023-05642-z
PMCID:
PMC10784527
ArticlePDF–3.3M

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