Classification of human chromosome 21 gene-expression variations in down syndrome: impact on disease phenotypes

Aït Yahya-Graison, E., Aubert, J., Dauphinot, L., Rivals, I., Prieur, M., Golfier, G., Rossier, J., Personnaz, L. +5 more·2007·The American Journal of Human Genetics
DOI 10.1086/520000

Cited by (339)

Items 301–339 of 339

  1. Insertions
    R. J McKinlay Gardner, David J. Amor · 2018 · Oxford University Press eBooks
  2. Chromosomal Disorders of Sex Development
    R. J. M. Gardner, Grant R. Sutherland, Lisa G. Shaffer · 2011 · Oxford University Press eBooks
  3. Autosomal Reciprocal Translocations
    R. J. M. Gardner, Grant R. Sutherland, Lisa G. Shaffer · 2011 · Oxford University Press eBooks
  4. Inverse regulatory mechanisms in aneuploidy
    Shuai Zhang, Lin Sun · 2022 · Scientia Sinica Vitae
  5. In vivo and in vitro models for research on Down syndrome
    Bani Bandana Ganguly · 2022 · Elsevier eBooks
  6. Gene-dosage imbalance due to trisomic HSA21 and genotype–phenotype association in Down syndrome
    Bani Bandana Ganguly · 2022 · Elsevier eBooks
  7. Development of specific phenotypes and genetic consequences in Down syndrome
    Bani Bandana Ganguly · 2022 · Elsevier eBooks
  8. EVALUATION OF AGE-RELATED LEVELS OF BRAIN-DERIVED NEUROTROPHIC FACTOR, MALONDIALDEHYDE AND GLUTATHIONE PEROXIDASE IN DOWN SYNDROME PATIENTS
    2023 · Al-Azhar Journal of Pediatrics
  9. Long-read sequencing reveals the complex structure of extra dic(21;21) chromosome and its biological effects
    Kugui Yoshida-Tanaka, Ko Ikemoto, Ryoji Kuribayashi, Motoko Unoki, Takako Takano, Akihiro Fujimoto · 2023 · Human Genetics
  10. 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 et al. · 2023 · eLife
  11. Down Syndrome: Historical, Genetic, Clinical, and Ethical Perspectives
    Abhijit Kamat · 2023 · Springer eBooks
  12. Epigenetic Correction and Early Brain Pharmacotherapy in Down Syndrome
    Jean Adolphe Rondal · 2024 · International Journal of Clinical Psychiatry and Mental Health
  13. 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 et al. · 2024 · eLife
  14. CRISPR/Cas9 gene editing for treating gene and protein disorders
    Chukwuebuka Emmanuel Umeyor, Preeya Negi, Riya Agarwal, Sonali Nitin Hanjankar, Vandana Bharat Patravale · 2025 · Elsevier eBooks
  15. Down Syndrome: Progress in Defining Pathogenesis and Treatments for Neurodevelopmental Deficits and Alzheimer’s Disease
    Renata Bartesaghi, Xu‐Qiao Chen, Aaron D. Johnstone, Utpal Das, William Cary Mobley · 2025 · Springer eBooks
  16. Preface to Fourth Edition
    2011 · Oxford University Press eBooks
  17. cYtogenetic Abbreviations and Nomenclature
    R. J McKinlay Gardner, David J. Amor · 2018 · Oxford University Press eBooks
  18. Ideograms of Human Chromosomes, and Haploid Autosomal Lengths
    R. J McKinlay Gardner, David J. Amor · 2018 · Oxford University Press eBooks
  19. Epigraph
    2018 · Oxford University Press eBooks
  20. Preface to the Fifth Edition
    2018 · Oxford University Press eBooks
  21. Copyright Page
    2011 · Oxford University Press eBooks
  22. Dedication
    2018 · Oxford University Press eBooks
  23. Dedication
    2011 · Oxford University Press eBooks
  24. Preface to The First Edition
    2011 · Oxford University Press eBooks
  25. Copyright Page
    2018 · Oxford University Press eBooks
  26. Cytogenetic Abbreviations and Nomenclature
    Gardner, R.J.M, Sutherland, Grant R, Shaffer, Lisa G. · 2011 · Oxford University Press eBooks
  27. Ideograms of Human Chromosomes, and Haploid Autosomal Lengths
    Gardner, R.J.M, Sutherland, Grant R, Shaffer, Lisa G. · 2011 · Oxford University Press eBooks
  28. Determining 95 Percent Confidence Limits, and the Standard Error
    R. J McKinlay Gardner, David J. Amor · 2018 · Oxford University Press eBooks
  29. Determining 95 Percent Confidence Limits, and the Standard Error
    Gardner, R.J.M, Sutherland, Grant R, Shaffer, Lisa G. · 2011 · Oxford University Press eBooks
  30. Epigraph
    2011 · Oxford University Press eBooks
  31. The DYRK Family: A Key Regulator of Metabolic Homeostasis and Its Therapeutic Potential in Kidney Diseases
    Yixuan Zhu, Peng-Fei Qiao, Yukun Gan, Xiushuo Fu, Xiayue Huang, Sirui Sun, Ya-Fei Gou, Wenjie Xia, Feng Ma, Limin Liu · 2026 · MedComm – Future Medicine
  32. The Genetics and Mechanisms of Alzheimer's Disease in Down Syndrome
    Michel Bourin · 2026 · Journal of Mental Health Disorders
  33. From Structure to Selectivity: Integrating CADD and AIDD in Rational Medicinal Chemistry Strategies for DYRK1A Inhibitor Discovery
    Minghui Yu, Shuangtian Tang, Lijuan Huang, Yunyue Wang, Jinyi Xu, Huajian Zhu, Hong Yao · 2026 · Journal of Medicinal Chemistry
  34. Overexpression of DYRK1A in down syndrome: Analysis of kinase activity
    Wieslaw K. Dowjat, Yu-Wen Hwang · 2026 · Biochemistry and Biophysics Reports
  35. Periodontitis and Alzheimer's disease, common pathways in down syndrome
    Fabio Arriola‐Pacheco, Alicia Leonor Pinzón-Te, Rodrigo Serrano-Piña, Bertha Arelly Carrillo-Ávila, Jaime Díaz‐Zúñiga, Samanta Melgar‐Rodríguez, Víctor Manuel Martínez-Aguilar · 2026 · Frontiers in Dental Medicine
  36. Down Syndrome Early Postnatal Brain Multiome (DS-HPBM)
    Anita Bhattacharyya, Pubudu Kumarage, Nicole R. West, Kalpana Hanthanan Arachchilage, Sara Knaack, Shawn MacGregor, Masoumeh Hosseini, Ryan D. Risgaard, Jose Martinez, Su‐Chun Zhang et al. · 2022 · INCLUDE Data Hub
  37. DS-HPBM Human Postnatal Basal Forebrain snRNA-seq
    Anita Bhattacharyya, Pubudu Kumarage, Nicole R. West, Kalpana Hanthanan Arachchilage, Sara Knaack, Shawn MacGregor, Masoumeh Hosseini, Ryan D. Risgaard, Jose Martinez, Su‐Chun Zhang et al. · 2022 · INCLUDE Data Hub
  38. DS-HPBM Human Postnatal Basal Forebrain snATAC-seq
    Anita Bhattacharyya, Pubudu Kumarage, Nicole R. West, Kalpana Hanthanan Arachchilage, Sara Knaack, Shawn MacGregor, Masoumeh Hosseini, Ryan D. Risgaard, Jose Martinez, Su‐Chun Zhang et al. · 2022 · INCLUDE Data Hub
  39. Functional Genomics and Molecular Networks Gene Expression Regulations in Complex Diseases: Down Syndrome as a Case Study
    Marie‐Claude Potier, Isabelle Rivals · 2012 · Springer eBooks