Concepedia

Autosomal Trisomy

Autosomal Trisomy is a chromosomal disorder characterized by the presence of an additional copy of one of the twenty-two autosomes, resulting in three copies of that chromosome instead of the typical two.

1.1K

Publications

54.2K

Citations

5K

Authors

1.4K

Institutions

Publications per year

2017–2026

132

Parents

Publications

1.1K

Amyloid β Protein Gene: cDNA, mRNA Distribution, and Genetic Linkage Near the Alzheimer Locus

Rudolph E. Tanzi, James F. Gusella, Paul C. Watkins et al. · Science · 1987 · 1.6K citations

, , +17

Report of the committee on the genetic constitution of autosomes other than chromosomes 1, 2, and 6

F.H. Ruddle, P. Meera Khan · Cytogenetics and Cell Genetics · 2008 · 851 citations

, , +14

Loss of telomeric DNA during aging of normal and trisomy 21 human lymphocytes.

Homayoun Vaziri, François Schächter, Irene A. Uchida et al. · PubMed · 1993 · 744 citations

, , +16

Retrospective and prospective epidemiological studies of 1500 karyotyped spontaneous human abortions

Joëlle Boué, A Boué, Philippe Lazar · Teratology · 1975 · 667 citations

, , +17

Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population

K. H. Nicolaides, Argyro Syngelaki, Ghalia Ashoor et al. · American Journal of Obstetrics and Gynecology · 2012 · 627 citations

, , +17

1–5 of 1.1K

Authors

5K

  1. CJ
    Charles J. Epstein

    University of California, San Francisco, United States

    12 publications · 724 citations

    11

    h-index

  2. RH
    Roger H. Reeves

    Johns Hopkins University, United States

    10 publications · 749 citations

    10

    h-index

  3. MB
    Mark B. Schapiro

    National Institute on Aging, United States

    9 publications · 355 citations

    9

    h-index

  4. SI
    Stanley I. Rapoport

    National Institute on Aging, United States

    9 publications · 314 citations

    9

    h-index

  5. PC
    Pablo Caviedes

    University of Chile, Chile

    9 publications · 211 citations

    9

    h-index

1–5 of 5K

Institutions

1.4K

  1. Johns Hopkins University

    Baltimore, United States

    23 h-index

    86 publications

    5.5K citations

  2. Harvard University

    Cambridge, United States

    21 h-index

    68 publications

    5.7K citations

  3. Inserm

    Paris, France

    20 h-index

    92 publications

    8K citations

  4. National Institutes of Health

    Bethesda, United States

    18 h-index

    78 publications

    2.8K citations

  5. Johns Hopkins Medicine

    Baltimore, United States

    18 h-index

    53 publications

    3.4K citations

  6. National Institute on Aging

    Baltimore, United States

    18 h-index

    71 publications

    2.3K citations

  7. University College London

    London, United Kingdom

    18 h-index

    82 publications

    7.4K citations

  8. University of California, San Francisco

    San Francisco, United States

    17 h-index

    75 publications

    7.3K citations

1–8 of 1.4K

Venues

  1. PubMed

    Repository · 135 publications · 5.2K citations

    34

    h-index

  2. Human Genetics

    52 publications · 2.1K citations

    26

    h-index

  3. American Journal of Medical Genetics

    44 publications · 1.7K citations

    23

    h-index

  4. Journal of Medical Genetics

    JMG · 42 publications · 1.8K citations

    22

    h-index

  5. Prenatal Diagnosis

    31 publications · 1.3K citations

    20

    h-index

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