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Year Number of Results
1993 2
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2023 126
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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 …
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 …
Marfan syndrome revisited: From genetics to the clinic.
Coelho SG, Almeida AG. Coelho SG, et al. Rev Port Cardiol (Engl Ed). 2020 Apr;39(4):215-226. doi: 10.1016/j.repc.2019.09.008. Epub 2020 May 18. Rev Port Cardiol (Engl Ed). 2020. PMID: 32439107 Free article. Review. English, Portuguese.
Marfan syndrome is an autosomal dominant connective tissue disease with an estimated incidence of 1 in 5000 individuals. ...The cardinal features involve the cardiovascular, ocular and skeletal systems. The diagnosis of Marfan syndrome is made according to the revis …
Marfan syndrome is an autosomal dominant connective tissue disease with an estimated incidence of 1 in 5000 individuals. ...The cardi …
Hydrocephalus: historical analysis and considerations for treatment.
Hochstetler A, Raskin J, Blazer-Yost BL. Hochstetler A, et al. Eur J Med Res. 2022 Sep 1;27(1):168. doi: 10.1186/s40001-022-00798-6. Eur J Med Res. 2022. PMID: 36050779 Free PMC article. Review.
The incidence rate of pediatric hydrocephalus is approximately 0.1-0.6% of live births, making it as common as Down syndrome in infants. Diagnosis and treatment of various forms of adult hydrocephalus remain understudied and underreported. ...
The incidence rate of pediatric hydrocephalus is approximately 0.1-0.6% of live births, making it as common as Down syndrome i …
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 …
Current Guidelines for Diagnosing PCOS.
Christ JP, Cedars MI. Christ JP, et al. Diagnostics (Basel). 2023 Mar 15;13(6):1113. doi: 10.3390/diagnostics13061113. Diagnostics (Basel). 2023. PMID: 36980421 Free PMC article. Review.
Polycystic ovary syndrome (PCOS) is the most common endocrine disorder of reproductive-aged women. Much of the confusion surrounding PCOS diagnosis stems from the broad heterogeneity of symptomology experienced by women with PCOS. The diverse features of the syndrome …
Polycystic ovary syndrome (PCOS) is the most common endocrine disorder of reproductive-aged women. Much of the confusion surrounding …
SARS-CoV-2, SARS-CoV, and MERS-COV: A comparative overview.
Rabaan AA, Al-Ahmed SH, Haque S, Sah R, Tiwari R, Malik YS, Dhama K, Yatoo MI, Bonilla-Aldana DK, Rodriguez-Morales AJ. Rabaan AA, et al. Infez Med. 2020 Ahead Of Print Jun 1;28(2):174-184. Infez Med. 2020. PMID: 32275259 Free article. Review.
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. ...
Down syndrome (DS) is one of the most prevalent chromosomal abnormalities worldwide, affecting 1 in 700 live births. ...
Reactive oxygen species, toxicity, oxidative stress, and antioxidants: chronic diseases and aging.
Jomova K, Raptova R, Alomar SY, Alwasel SH, Nepovimova E, Kuca K, Valko M. Jomova K, et al. Arch Toxicol. 2023 Oct;97(10):2499-2574. doi: 10.1007/s00204-023-03562-9. Epub 2023 Aug 19. Arch Toxicol. 2023. PMID: 37597078 Free PMC article. Review.
Oxidative stress contributes to the pathology of cancer, cardiovascular diseases, diabetes, neurological disorders (Alzheimer's and Parkinson's diseases, Down syndrome), psychiatric diseases (depression, schizophrenia, bipolar disorder), renal disease, lung disease …
Oxidative stress contributes to the pathology of cancer, cardiovascular diseases, diabetes, neurological disorders (Alzheimer's and Parkinso …
Down syndrome and leukemia: from basic mechanisms to clinical advances.
Baruchel A, Bourquin JP, Crispino J, Cuartero S, Hasle H, Hitzler J, Klusmann JH, Izraeli S, Lane AA, Malinge S, Rabin KR, Roberts I, Ryeom S, Tasian SK, Wagenblast E. Baruchel A, et al. Haematologica. 2023 Oct 1;108(10):2570-2581. doi: 10.3324/haematol.2023.283225. Haematologica. 2023. PMID: 37439336 Free PMC article. Review.
Children with Down syndrome (DS, trisomy 21) are at a significantly higher risk of developing acute leukemia compared to the overall population. ...A focused group of scientists and clinicians with expertise in leukemia and DS met in October 2022 at the Jerome Lejeu …
Children with Down syndrome (DS, trisomy 21) are at a significantly higher risk of developing acute leukemia compared to the o …
663 results