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The following term was not found in PubMed: 4Q32.1-q32.2
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). ...Mouse models of DS, involving trisomy of all or part of human chromosome 21 or orthologous mouse genomic regions, …
Trisomy 21, the presence of a supernumerary chromosome 21, results in a collection of clinical features commonly known as Down syn …
Alpha-thalassaemia.
Bernini LF, Harteveld CL. Bernini LF, et al. Baillieres Clin Haematol. 1998 Mar;11(1):53-90. doi: 10.1016/s0950-3536(98)80070-x. Baillieres Clin Haematol. 1998. PMID: 10872473 Review.
These deletions do not include the structural genes but, nevertheless, suppress completely their expression. Larger deletions involving the tip of the short arm of chromosome 16 by truncation, interstitial deletions or translocations result in the contiguous gene syndro …
These deletions do not include the structural genes but, nevertheless, suppress completely their expression. Larger deletions involving the …
Down syndrome and the eye: Ocular characteristics and ocular assessment.
Mathan JJ, Simkin SK, Gokul A, McGhee CNJ. Mathan JJ, et al. Surv Ophthalmol. 2022 Nov-Dec;67(6):1631-1646. doi: 10.1016/j.survophthal.2022.03.006. Epub 2022 Apr 1. Surv Ophthalmol. 2022. PMID: 35367480 Review.
The trisomy of chromosome 21, the smallest autosome, is associated with significant systemic manifestations in addition to intellectual disability. The triplication of this chromosome, known as Down syndrome (DS) is also associated with several manifes …
The trisomy of chromosome 21, the smallest autosome, is associated with significant systemic manifestations in addition to intellectu …
Down's syndrome, neuroinflammation, and Alzheimer neuropathogenesis.
Wilcock DM, Griffin WS. Wilcock DM, et al. J Neuroinflammation. 2013 Jul 16;10:84. doi: 10.1186/1742-2094-10-84. J Neuroinflammation. 2013. PMID: 23866266 Free PMC article. Review.
Down syndrome (DS) is the result of triplication of chromosome 21 (trisomy 21) and is the prevailing cause of mental retardation. In addition to the mental deficiencies and physical anomalies noted at birth, triplication of chromosome 21 gene pr …
Down syndrome (DS) is the result of triplication of chromosome 21 (trisomy 21) and is the prevailing cause of mental re …
Triplication of HSA21 on alterations in structure and function of mitochondria.
Ganguly BB, Kadam NN. Ganguly BB, et al. Mitochondrion. 2022 Jul;65:88-101. doi: 10.1016/j.mito.2022.05.007. Epub 2022 May 24. Mitochondrion. 2022. PMID: 35623559 Review.
Triplication of genes encoded in human chromosome 21 (HSA21) is responsible for the phenotypes of Down syndrome (DS). ...
Triplication of genes encoded in human chromosome 21 (HSA21) is responsible for the phenotypes of Down syndrome (DS). . …
Trisomy 21 and the brain.
Mrak RE, Griffin WS. Mrak RE, et al. J Neuropathol Exp Neurol. 2004 Jul;63(7):679-85. doi: 10.1093/jnen/63.7.679. J Neuropathol Exp Neurol. 2004. PMID: 15290893 Free PMC article. Review.
These pathological changes are thought to underlie the neuropsychological and physiological changes in older individuals with Down syndrome. Two chromosome 21-based gene products, beta-amyloid precursor protein (betaAPP) and S100B, have been implicated in these neur …
These pathological changes are thought to underlie the neuropsychological and physiological changes in older individuals with Down syndro …
Aging in Down Syndrome and the Development of Alzheimer's Disease Neuropathology.
Head E, Lott IT, Wilcock DM, Lemere CA. Head E, et al. Curr Alzheimer Res. 2016;13(1):18-29. doi: 10.2174/1567205012666151020114607. Curr Alzheimer Res. 2016. PMID: 26651341 Free PMC article. Review.
Chromosome 21, triplicated in Down Syndrome, contains several genes that are thought to play a critical role in the development of AD neuropathology. The overexpression of the gene for the amyloid precursor protein (APP), on chromosome 21, leads to ear …
Chromosome 21, triplicated in Down Syndrome, contains several genes that are thought to play a critical role in the dev …
The genetic background and application of Down syndrome mouse models.
Meng XW, Wang J, Ma QW. Meng XW, et al. Yi Chuan. 2018 Mar 20;40(3):207-217. doi: 10.16288/j.yczz.17-279. Yi Chuan. 2018. PMID: 29576544 Review.
Down syndrome (DS), trisomy chromosome 21 (Hsa21), is the most common genetic disease caused by chromosome aberration in the human genome. ...In 2004, the successful use of the Cre/LoxP recombination technique in chromosomal engineering in the construc …
Down syndrome (DS), trisomy chromosome 21 (Hsa21), is the most common genetic disease caused by chromosome aberration i …
New approaches to studying early brain development in Down syndrome.
Baburamani AA, Patkee PA, Arichi T, Rutherford MA. Baburamani AA, et al. Dev Med Child Neurol. 2019 Aug;61(8):867-879. doi: 10.1111/dmcn.14260. Epub 2019 May 17. Dev Med Child Neurol. 2019. PMID: 31102269 Free PMC article. Review.
Down syndrome is the most common genetic developmental disorder in humans and is caused by partial or complete triplication of human chromosome 21 (trisomy 21). ...WHAT THIS PAPER ADDS: Magnetic resonance imaging can provide non-invasive characterization of e …
Down syndrome is the most common genetic developmental disorder in humans and is caused by partial or complete triplication of …
Down syndrome and the enteric nervous system.
Moore SW. Moore SW. Pediatr Surg Int. 2008 Aug;24(8):873-83. doi: 10.1007/s00383-008-2188-7. Epub 2008 Jul 17. Pediatr Surg Int. 2008. PMID: 18633623 Review.
Down syndrome (DS) is the most common chromosomal abnormality occurring in humans. ...The most prominent of these include esophageal dysmotility syndromes (e.g. achalasia, gastroesophageal reflux, dysphagia) as well as a higher incidence of chronic constipati …
Down syndrome (DS) is the most common chromosomal abnormality occurring in humans. ...The most prominent of these include esop …
47 results