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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1954 1
1957 1
1958 1
1959 1
1960 1
1961 1
1963 1
1964 2
1965 2
1966 5
1967 3
1968 2
1969 2
1970 6
1971 2
1972 1
1973 5
1974 5
1975 25
1976 23
1977 21
1978 16
1979 23
1980 30
1981 30
1982 22
1983 49
1984 38
1985 46
1986 36
1987 53
1988 65
1989 72
1990 100
1991 78
1992 77
1993 109
1994 92
1995 121
1996 129
1997 140
1998 144
1999 147
2000 167
2001 168
2002 161
2003 177
2004 162
2005 214
2006 228
2007 223
2008 230
2009 226
2010 286
2011 291
2012 332
2013 334
2014 335
2015 313
2016 346
2017 353
2018 353
2019 350
2020 377
2021 423
2022 386
2023 353
2024 124

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7,735 results

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Quoted phrase not found in phrase index: "Complete trisomy 21 syndrome"
Page 1
Mosaicism for trisomy 21: a review.
Papavassiliou P, Charalsawadi C, Rafferty K, Jackson-Cook C. Papavassiliou P, et al. Am J Med Genet A. 2015 Jan;167A(1):26-39. doi: 10.1002/ajmg.a.36861. Epub 2014 Nov 20. Am J Med Genet A. 2015. PMID: 25412855 Review.
The clinical and cytogenetic findings associated with mosaicism for trisomy 21/Down syndrome are the focus of this review. The primary topics discussed in this overview of the extant literature include the history of this condition and its diagnosis, the incidence o …
The clinical and cytogenetic findings associated with mosaicism for trisomy 21/Down syndrome are the focus of this review. The …
Lung disease manifestations in Down syndrome.
Danopoulos S, Deutsch GH, Dumortier C, Mariani TJ, Al Alam D. Danopoulos S, et al. Am J Physiol Lung Cell Mol Physiol. 2021 Nov 1;321(5):L892-L899. doi: 10.1152/ajplung.00434.2020. Epub 2021 Sep 1. Am J Physiol Lung Cell Mol Physiol. 2021. PMID: 34469245 Free PMC article. Review.
Down syndrome (DS) is one of the most prevalent chromosomal abnormalities worldwide, affecting 1 in 700 live births. Although multiple organ systems are affected by the chromosomal defects, respiratory failure and lung disease are the leading causes of morbidity and …
Down syndrome (DS) is one of the most prevalent chromosomal abnormalities worldwide, affecting 1 in 700 live births. Although …
Multidimensional definition of the interferonopathy of Down syndrome and its response to JAK inhibition.
Galbraith MD, Rachubinski AL, Smith KP, Araya P, Waugh KA, Enriquez-Estrada B, Worek K, Granrath RE, Kinning KT, Paul Eduthan N, Ludwig MP, Hsieh EWY, Sullivan KD, Espinosa JM. Galbraith MD, et al. Sci Adv. 2023 Jun 28;9(26):eadg6218. doi: 10.1126/sciadv.adg6218. Epub 2023 Jun 28. Sci Adv. 2023. PMID: 37379383 Free PMC article.
Individuals with Down syndrome (DS) display chronic hyperactivation of interferon signaling. ...Here, we describe a multiomics investigation of interferon signaling in hundreds of individuals with DS. Using interferon scores derived from the whole blood trans …
Individuals with Down syndrome (DS) display chronic hyperactivation of interferon signaling. ...Here, we describe a multiomics …
Ageing and Down syndrome: Neurocognitive characteristics and pharmacological treatment.
Malegiannaki AC, Katsarou D, Liolios A, Zisi V. Malegiannaki AC, et al. Hell J Nucl Med. 2019 Jan-Apr;22 Suppl:123-132. Hell J Nucl Med. 2019. PMID: 30877730 Review.
Individuals with Down Syndrome (DS) are commonly characterized by unique neurocognitive and neurobehavioural profiles that emerge within specific stages in the developmental continuum. ...Due to having three copies of the amyloid precursor protein (APP) gene which r …
Individuals with Down Syndrome (DS) are commonly characterized by unique neurocognitive and neurobehavioural profiles that eme …
Maternal age in the epidemiology of common autosomal trisomies.
Cuckle H, Morris J. Cuckle H, et al. Prenat Diagn. 2021 Apr;41(5):573-583. doi: 10.1002/pd.5840. Epub 2020 Oct 19. Prenat Diagn. 2021. PMID: 33078428 Review.
Down syndrome fetal loss rates reduce with gestation and increase with maternal age. ...Fetal loss rates are higher for Edwards and Patau syndromes than for Down syndrome....
Down syndrome fetal loss rates reduce with gestation and increase with maternal age. ...Fetal loss rates are higher for Edward …
Fetal nuchal translucency thickness.
Witters I, Fryns JR. Witters I, et al. Genet Couns. 2007;18(1):1-7. Genet Couns. 2007. PMID: 17515296 Review.
Down syndrome, increased risk of dementia and lipid disturbances.
Kłosowska A, Ćwiklińska A, Kuchta A, Berlińska A, Jankowski M, Wierzba J. Kłosowska A, et al. Dev Period Med. 2017;21(1):69-73. doi: 10.34763/devperiodmed.20172101.6973. Dev Period Med. 2017. PMID: 28551695 Free PMC article. Review.
Down syndrome (DS) is the most common chromosomal aberration and genetically determined cause of intellectual disability. ...Post-mortem studies of DS patients' brains revealed diffuse deposition of the insoluble form of amyloid beta (Abeta), which is a characterist …
Down syndrome (DS) is the most common chromosomal aberration and genetically determined cause of intellectual disability. ...P …
Down syndrome: cognitive phenotype.
Silverman W. Silverman W. Ment Retard Dev Disabil Res Rev. 2007;13(3):228-36. doi: 10.1002/mrdd.20156. Ment Retard Dev Disabil Res Rev. 2007. PMID: 17910084 Review.
Down syndrome is the most prevalent cause of intellectual impairment associated with a genetic anomaly, in this case, trisomy of chromosome 21. It affects both physical and cognitive development and produces a characteristic phenotype, although affected individuals …
Down syndrome is the most prevalent cause of intellectual impairment associated with a genetic anomaly, in this case, trisomy …
Evaluation of the craniofacial and oral characteristics of individuals with Down syndrome: A review of the literature.
Díaz-Quevedo AA, Castillo-Quispe HML, Atoche-Socola KJ, Arriola-Guillén LE. Díaz-Quevedo AA, et al. J Stomatol Oral Maxillofac Surg. 2021 Dec;122(6):583-587. doi: 10.1016/j.jormas.2021.01.007. Epub 2021 Jan 20. J Stomatol Oral Maxillofac Surg. 2021. PMID: 33484855 Review.
The aim of this investigation was to describe the craniofacial and oral characteristics of children and/or adolescents with and without Down syndrome (DS). A bibliographic search of the Medline database (via PubMed), Scopus and SCIELO was performed using the keyword …
The aim of this investigation was to describe the craniofacial and oral characteristics of children and/or adolescents with and without D …
Cell-Free DNA Screening: Complexities and Challenges of Clinical Implementation.
Grace MR, Hardisty E, Dotters-Katz SK, Vora NL, Kuller JA. Grace MR, et al. Obstet Gynecol Surv. 2016 Aug;71(8):477-87. doi: 10.1097/OGX.0000000000000342. Obstet Gynecol Surv. 2016. PMID: 27526871 Free PMC article. Review.
Some of these challenges include test failures, false-positive and false-negative results, limitations in positive predictive value in low-prevalence populations, and potential maternal health implications of abnormal results. ...
Some of these challenges include test failures, false-positive and false-negative results, limitations in positive predictive value i …
7,735 results