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Items: 1 to 20 of 1937212

1.
What people with Down Syndrome can teach us about cardiopulmonary disease
Kelley L. Colvin, Michael E. Yeager
Eur Respir Rev. 2017 Mar 31; 26(143): 160098. Published online 2017 Feb 22. doi: 10.1183/16000617.0098-2016
PMCID:
PMC9489111
AbstractArticlePDF–430K
2.
Role of chronic cannabis use: Cyclic vomiting syndrome vs cannabinoid hyperemesis syndrome
Thangam Venkatesan, David J. Levinthal, B U. K. Li, Sally E. Tarbell, Kathleen A. Adams, Robert M. Issenman, Irene Sarosiek, Safwan S. Jaradeh, Ravi N. Sharaf, Shahnaz Sultan, Christopher D. Stave, Andrew A. Monte, William L. Hasler
Neurogastroenterol Motil. 2019 Jun; 31(Suppl 2): e13606. Published online 2019 Jun 26. doi: 10.1111/nmo.13606
PMCID:
PMC6788295
AbstractArticlePDF–996K
3.
Network Pharmacology to Uncover the Biological Basis of Spleen Qi Deficiency Syndrome and Herbal Treatment
Xin Wang, Min Wu, Xinxing Lai, Jiahui Zheng, Minghua Hu, Yan Li, Shao Li
Oxid Med Cell Longev. 2020; 2020: 2974268. Published online 2020 Aug 27. doi: 10.1155/2020/2974268
PMCID:
PMC7474375
AbstractArticlePDF–3.3M
4.
Differential effects of Down's syndrome and Alzheimer's neuropathology on default mode connectivity
Liam R. Wilson, Deniz Vatansever, Tiina Annus, Guy B. Williams, Young T. Hong, Tim D. Fryer, Peter J. Nestor, Anthony J. Holland, Shahid H. Zaman
Hum Brain Mapp. 2019 Oct 15; 40(15): 4551–4563. Published online 2019 Jul 26. doi: 10.1002/hbm.24720
PMCID:
PMC6865660
AbstractArticlePDF–8.7M
5.
Results From the WAGR Syndrome Patient Registry: Characterization of WAGR Spectrum and Recommendations for Care Management
Kelly A. Duffy, Kelly L. Trout, Jennifer M. Gunckle, Shari McCullen Krantz, John Morris, Jennifer M. Kalish
Front Pediatr. 2021; 9: 733018. Published online 2021 Dec 14. doi: 10.3389/fped.2021.733018
PMCID:
PMC8712693
AbstractArticlePDF–3.6M
6.
Upper Gastrointestinal Cancer Surveillance in Lynch Syndrome
Shria Kumar, Natalie Farha, Carol A. Burke, Bryson W. Katona
Cancers (Basel) 2022 Feb; 14(4): 1000. Published online 2022 Feb 16. doi: 10.3390/cancers14041000
PMCID:
PMC8869779
AbstractArticlePDF–1.4M
7.
Biomarkers of Pulmonary Hypertension Are Altered in Children with Down Syndrome and Pulmonary Hypertension
Megan Griffiths, Jun Yang, Dhananjay Vaidya, Melanie Nies, Stephanie Brandal, D. Dunbar Ivy, Francis Hickey, Kristine Wolter-Warmerdam, Eric D. Austin, Mary Mullen, Michael W. Pauciulo, Katie A. Lutz, Erika B. Rosenzweig, Russel Hirsch, Delphine Yung, William C. Nichols, Allen D. Everett
J Pediatr. Author manuscript; available in PMC 2022 May 11.
Published in final edited form as: J Pediatr. 2022 Feb; 241: 68–76.e3. Published online 2021 Oct 21. doi: 10.1016/j.jpeds.2021.10.017
PMCID:
PMC9092284
AbstractArticlePDF–841K
8.
Down syndrome
Stylianos E. Antonarakis, Brian G. Skotko, Michael S. Rafii, Andre Strydom, Sarah E. Pape, Diana W. Bianchi, Stephanie L. Sherman, Roger H. Reeves
Nat Rev Dis Primers. Author manuscript; available in PMC 2021 Sep 9.
Published in final edited form as: Nat Rev Dis Primers. 2020 Feb 6; 6(1): 9. Published online 2020 Feb 6. doi: 10.1038/s41572-019-0143-7
PMCID:
PMC8428796
AbstractArticlePDF–1.6M
9.
Pragmatic Profiles of Adults with Fragile X Syndrome and Williams Syndrome
Eliseo Diez-Itza, Aitana Viejo, Maite Fernández-Urquiza
Brain Sci. 2022 Mar; 12(3): 385. Published online 2022 Mar 13. doi: 10.3390/brainsci12030385
PMCID:
PMC8946534
AbstractArticlePDF–641K
10.
SARS-CoV-2 Infection Causes Heightened Disease Severity and Mortality in a Mouse Model of Down Syndrome
Roger D. Pechous, Priyangi A. Malaviarachchi, Zhuo Xing, Avrium Douglas, Samantha D. Crane, Hayley M. Theriot, Zijing Zhang, Alireza Ghaffarieh, Lu Huang, Y. Eugene Yu, Xuming Zhang
Biomedicines. 2024 Mar; 12(3): 543. Published online 2024 Feb 28. doi: 10.3390/biomedicines12030543
PMCID:
PMC10967796
AbstractArticlePDF–4.3M
11.
COVID-19 in Children with Down Syndrome: Data from the Trisomy 21 Research Society Survey
David Emes, Anke Hüls, Nicole Baumer, Mara Dierssen, Shiela Puri, Lauren Russell, Stephanie L. Sherman, Andre Strydom, Stefania Bargagna, Ana Cláudia Brandão, Alberto C. S. Costa, Patrick T. Feany, Brian Allen Chicoine, Sujay Ghosh, Anne-Sophie Rebillat, Giuseppina Sgandurra, Diletta Valentini, Tilman R. Rohrer, Johannes Levin, Monica Lakhanpaul, on behalf of the Trisomy 21 Research Society COVID-19 Initiative Study Group
J Clin Med. 2021 Nov; 10(21): 5125. Published online 2021 Oct 31. doi: 10.3390/jcm10215125
PMCID:
PMC8584980
AbstractArticlePDF–1.6M
12.
Neurobiological perspective of 22q11.2 deletion syndrome
Janneke R Zinkstok, Erik Boot, Anne S Bassett, Noboru Hiroi, Nancy J Butcher, Claudia Vingerhoets, Jacob A S Vorstman, Therese A M J van Amelsvoort
Lancet Psychiatry. Author manuscript; available in PMC 2020 Feb 10.
Published in final edited form as: Lancet Psychiatry. 2019 Nov; 6(11): 951–960. Published online 2019 Aug 5. doi: 10.1016/S2215-0366(19)30076-8
PMCID:
PMC7008533
AbstractArticlePDF–597K
13.
Marfan Syndrome
Dianna M. Milewicz, Alan C. Braverman, Julie De Backer, Shaine A. Morris, Catherine Boileau, Irene H. Maumenee, Guillaume Jondeau, Arturo Evangelista, Reed E. Pyeritz
Nat Rev Dis Primers. Author manuscript; available in PMC 2022 Jul 7.
Published in final edited form as: Nat Rev Dis Primers. 2021 Sep 2; 7(1): 64. Published online 2021 Sep 2. doi: 10.1038/s41572-021-00298-7
Correction in:
Nat Rev Dis Primers. 2022 Jan 17; 8(1): 3.
PMCID:
PMC9261969
AbstractArticlePDF–1.4M
14.
Direct economic burden of mental health disorders associated with polycystic ovary syndrome: Systematic review and meta-analysis
Surabhi Yadav, Olivia Delau, Adam J Bonner, Daniela Markovic, William Patterson, Sasha Ottey, Richard P Buyalos, Ricardo Azziz
eLife. 2023; 12: e85338. Published online 2023 Aug 3. doi: 10.7554/eLife.85338
PMCID:
PMC10471160
AbstractArticlePDF–929K
15.
Factors influencing TCM syndrome types of acute cerebral infarction: A binomial logistic regression analysis
Shuning Zhang, Ji Yang
Medicine (Baltimore) 2023 Nov 17; 102(46): e36080. Published online 2023 Nov 17. doi: 10.1097/MD.0000000000036080
PMCID:
PMC10659613
AbstractArticlePDF–1.3M
16.
Incidence of Terson Syndrome in Treated Subarachnoid Hemorrhage in South Korea: a National Health Insurance Database Study
Eun Hee Hong, Mincheol Seong, Hosuck Yeom, Sungyong Choi, Kyu-Sun Choi, Min Ho Kang, Heeyoon Cho, Yong Un Shin
Sci Rep. 2019; 9: 19048. Published online 2019 Dec 13. doi: 10.1038/s41598-019-55566-0
PMCID:
PMC6911003
AbstractArticlePDF–1.2M
17.
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature
Margot R F Reijnders, Robert Janowski, Mohsan Alvi, Jay E Self, Ton J van Essen, Maaike Vreeburg, Rob P W Rouhl, Servi J C Stevens, Alexander P A Stegmann, Jolanda Schieving, Rolph Pfundt, Katinke van Dijk, Eric Smeets, Connie T R M Stumpel, Levinus A Bok, Jan Maarten Cobben, Marc Engelen, Sahar Mansour, Margo Whiteford, Kate E Chandler, Sofia Douzgou, Nicola S Cooper, Ene-Choo Tan, Roger Foo, Angeline H M Lai, Julia Rankin, Andrew Green, Tuula Lönnqvist, Pirjo Isohanni, Shelley Williams, Ilene Ruhoy, Karen S Carvalho, James J Dowling, Dorit L Lev, Katalin Sterbova, Petra Lassuthova, Jana Neupauerová, Jeff L Waugh, Sotirios Keros, Jill Clayton-Smith, Sarah F Smithson, Han G Brunner, Ceciel van Hoeckel, Mel Anderson, Virginia E Clowes, Victoria Mok Siu, The DDD study, Paulo Selber, Richard J Leventer, Christoffer Nellaker, Dierk Niessing, David Hunt, Diana Baralle
J Med Genet. 2018 Feb; 55(2): 104–113. Published online 2017 Nov 2. doi: 10.1136/jmedgenet-2017-104946
PMCID:
PMC5800346
AbstractArticlePDF–1.3M
18.
IPNA clinical practice recommendations for the diagnosis and management of children with steroid-sensitive nephrotic syndrome
Agnes Trautmann, Olivia Boyer, Elisabeth Hodson, Arvind Bagga, Debbie S. Gipson, Susan Samuel, Jack Wetzels, Khalid Alhasan, Sushmita Banerjee, Rajendra Bhimma, Melvin Bonilla-Felix, Francisco Cano, Martin Christian, Deirdre Hahn, Hee Gyung Kang, Koichi Nakanishi, Hesham Safouh, Howard Trachtman, Hong Xu, Wendy Cook, Marina Vivarelli, Dieter Haffner, on behalf of the International Pediatric Nephrology Association
Pediatr Nephrol. 2023; 38(3): 877–919. Published online 2022 Oct 21. doi: 10.1007/s00467-022-05739-3
PMCID:
PMC9589698
AbstractArticlePDF–1.9M
19.
IPNA clinical practice recommendations for the diagnosis and management of children with steroid-resistant nephrotic syndrome
Agnes Trautmann, Marina Vivarelli, Susan Samuel, Debbie Gipson, Aditi Sinha, Franz Schaefer, Ng Kar Hui, Olivia Boyer, Moin A Saleem, Luciana Feltran, Janina Müller-Deile, Jan Ulrich Becker, Francisco Cano, Hong Xu, Yam Ngo Lim, William Smoyer, Ifeoma Anochie, Koichi Nakanishi, Elisabeth Hodson, Dieter Haffner, on behalf of the International Pediatric Nephrology Association
Pediatr Nephrol. 2020; 35(8): 1529–1561. Published online 2020 May 7. doi: 10.1007/s00467-020-04519-1
PMCID:
PMC7316686
AbstractArticlePDF–2.0M
20.
Clinical and molecular spectrum of CHOPS syndrome
Sarah E. Raible, Devanshi Mehta, Chiara Bettale, Sarah Fiordaliso, Maninder Kaur, Livija Medne, Marlene Rio, Eric Haan, Susan M. White, Kristina Cusmano-Ozog, Eriko Nishi, Yiran Guo, Honglin Wu, Xiaoqing Shi, Qingjie Zhao, Xueqin Zhang, Qi Lei, Aimei Lu, Xiyu He, Nobuhiko Okamoto, Noriko Miyake, Joseph Piccione, Julian Allen, Naomichi Matsumoto, Mary Pipan, Ian D. Krantz, Kosuke Izumi
Am J Med Genet A. Author manuscript; available in PMC 2020 Sep 4.
Published in final edited form as: Am J Med Genet A. 2019 Jul; 179(7): 1126–1138. Published online 2019 May 6. doi: 10.1002/ajmg.a.61174
PMCID:
PMC7473581
AbstractArticlePDF–2.2M

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