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

Year Number of Results
1963 5
1964 13
1965 2
1966 7
1967 8
1968 15
1969 16
1970 28
1971 15
1972 27
1973 20
1974 13
1975 19
1976 13
1977 10
1978 12
1979 11
1980 11
1981 21
1982 19
1983 25
1984 19
1985 23
1986 38
1987 32
1988 48
1989 64
1990 74
1991 74
1992 88
1993 73
1994 66
1995 86
1996 82
1997 77
1998 89
1999 105
2000 103
2001 119
2002 103
2003 122
2004 132
2005 139
2006 159
2007 145
2008 114
2009 114
2010 153
2011 155
2012 178
2013 155
2014 178
2015 165
2016 175
2017 172
2018 181
2019 145
2020 198
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2022 158
2023 162
2024 49

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4,613 results

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Page 1
Down syndrome.
Antonarakis SE, Skotko BG, Rafii MS, Strydom A, Pape SE, Bianchi DW, Sherman SL, Reeves RH. Antonarakis SE, et al. Nat Rev Dis Primers. 2020 Feb 6;6(1):9. doi: 10.1038/s41572-019-0143-7. Nat Rev Dis Primers. 2020. PMID: 32029743 Free PMC article. Review.
Trisomy 21, the presence of a supernumerary chromosome 21, results in a collection of clinical features commonly known as Down syndrome (DS). DS is among the most genetically complex of the conditions that are compatible with human survival post-term, and the most f …
Trisomy 21, the presence of a supernumerary chromosome 21, results in a collection of clinical features commonly known as Down syn …
Down syndrome--genetic and nutritional aspects of accompanying disorders.
Mazurek D, Wyka J. Mazurek D, et al. Rocz Panstw Zakl Hig. 2015;66(3):189-94. Rocz Panstw Zakl Hig. 2015. PMID: 26400113 Free article. Review.
Down syndrome (DS) is one of the more commonly occurring genetic disorders, where mental retardation is combined with nutritional diseases. ...
Down syndrome (DS) is one of the more commonly occurring genetic disorders, where mental retardation is combined with nutritio …
Cardiovascular Complications of Down Syndrome: Scoping Review and Expert Consensus.
Dimopoulos K, Constantine A, Clift P, Condliffe R, Moledina S, Jansen K, Inuzuka R, Veldtman GR, Cua CL, Tay ELW, Opotowsky AR, Giannakoulas G, Alonso-Gonzalez R, Cordina R, Capone G, Namuyonga J, Scott CH, D'Alto M, Gamero FJ, Chicoine B, Gu H, Limsuwan A, Majekodunmi T, Budts W, Coghlan G, Broberg CS; for Down Syndrome International (DSi). Dimopoulos K, et al. Circulation. 2023 Jan 31;147(5):425-441. doi: 10.1161/CIRCULATIONAHA.122.059706. Epub 2023 Jan 30. Circulation. 2023. PMID: 36716257 Free PMC article. Review.
Cardiovascular disease is a leading cause of morbidity and mortality in individuals with Down syndrome. Congenital heart disease is the most common cardiovascular condition in this group, present in up to 50% of people with Down syndrome and contributi …
Cardiovascular disease is a leading cause of morbidity and mortality in individuals with Down syndrome. Congenital heart disea …
Down's syndrome.
Roizen NJ, Patterson D. Roizen NJ, et al. Lancet. 2003 Apr 12;361(9365):1281-9. doi: 10.1016/S0140-6736(03)12987-X. Lancet. 2003. PMID: 12699967 Review.
The sequencing of chromosome 21 and the use of models of Down's syndrome in mice have allowed us to relate genes and sets of genes to the neuropathogenesis of this syndrome, and to better understand its phenotype. ...Medical management of the syndrome require …
The sequencing of chromosome 21 and the use of models of Down's syndrome in mice have allowed us to relate genes and sets of genes to …
Endocrine manifestations of Down syndrome.
Whooten R, Schmitt J, Schwartz A. Whooten R, et al. Curr Opin Endocrinol Diabetes Obes. 2018 Feb;25(1):61-66. doi: 10.1097/MED.0000000000000382. Curr Opin Endocrinol Diabetes Obes. 2018. PMID: 29135488 Free PMC article. Review.
PURPOSE OF REVIEW: To summarize the recent developments in endocrine disorders associated with Down syndrome. RECENT FINDINGS: Current research regarding bone health and Down syndrome continues to show an increased prevalence of low bone mass and highl …
PURPOSE OF REVIEW: To summarize the recent developments in endocrine disorders associated with Down syndrome. RECENT FINDINGS: …
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 …
Alzheimer's disease associated with Down syndrome: a genetic form of dementia.
Fortea J, Zaman SH, Hartley S, Rafii MS, Head E, Carmona-Iragui M. Fortea J, et al. Lancet Neurol. 2021 Nov;20(11):930-942. doi: 10.1016/S1474-4422(21)00245-3. Lancet Neurol. 2021. PMID: 34687637 Free PMC article. Review.
Adults with Down syndrome develop the neuropathological hallmarks of Alzheimer's disease and are at very high risk of developing early-onset dementia, which is now the leading cause of death in this population. ...Unprecedented research activity in Down sy …
Adults with Down syndrome develop the neuropathological hallmarks of Alzheimer's disease and are at very high risk of developi …
Down syndrome--recent progress and future prospects.
Wiseman FK, Alford KA, Tybulewicz VL, Fisher EM. Wiseman FK, et al. Hum Mol Genet. 2009 Apr 15;18(R1):R75-83. doi: 10.1093/hmg/ddp010. Hum Mol Genet. 2009. PMID: 19297404 Free PMC article. Review.
Down syndrome (DS) is caused by trisomy of chromosome 21 (Hsa21) and is associated with a number of deleterious phenotypes, including learning disability, heart defects, early-onset Alzheimer's disease and childhood leukaemia. ...
Down syndrome (DS) is caused by trisomy of chromosome 21 (Hsa21) and is associated with a number of deleterious phenotypes, in …
Down syndrome: a review of the literature.
Desai SS. Desai SS. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 1997 Sep;84(3):279-85. doi: 10.1016/s1079-2104(97)90343-7. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 1997. PMID: 9377191 Review.
This review of the literature on Down syndrome focuses on various systemic anomalies and oral anomalies, its clinical manifestations, and recommendations for persons with Down syndrome. From the time Down syndrome was diagnosed by phenoty …
This review of the literature on Down syndrome focuses on various systemic anomalies and oral anomalies, its clinical manifest …
Down syndrome regression disorder: updates and therapeutic advances.
Santoro JD, Filipink RA, Baumer NT, Bulova PD, Handen BL. Santoro JD, et al. Curr Opin Psychiatry. 2023 Mar 1;36(2):96-103. doi: 10.1097/YCO.0000000000000845. Epub 2022 Dec 29. Curr Opin Psychiatry. 2023. PMID: 36705008 Review.
PURPOSE OF REVIEW: Down syndrome regression disorder (DSRD) is a symptom cluster consisting of neuropsychiatric regression without cause. ...
PURPOSE OF REVIEW: Down syndrome regression disorder (DSRD) is a symptom cluster consisting of neuropsychiatric regression wit …
4,613 results