| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| L Bussières, P Rozenberg, J-P Bault, Y Vill. [First trimester Down syndrome screening program using nuchal translucency and maternal serum markers: the Echo PAPP-A.78 study]. Journal de gynecologie, obstetrique et biologie de la reproduction. vol 33. issue 1 Suppl. 2004-06-09. PMID:14968021. |
successive development of different methods to screen down syndrome (ds) have had unexpected effects, leading to an inflation in the number of karyotypes ordered and the number of induced abortions. |
2004-06-09 |
2023-08-12 |
Not clear |
| Claudia Sandri, Raffaella Di Lisi, Anne Picard, Carla Argentini, Elisa Calabria, Kristene Myklak, Paolo Scartezzini, Stefano Schiaffin. Heart morphogenesis is not affected by overexpression of the Sh3bgr gene mapping to the Down syndrome heart critical region. Human genetics. vol 114. issue 5. 2004-06-04. PMID:14767758. |
congenital heart disease (chd) is the most common birth defect in humans and is present in 40% of newborns affected by down syndrome (ds). |
2004-06-04 |
2023-08-12 |
mouse |
| Yasuhiro Kazuki, Motoshi Kimura, Ryuichi Nishigaki, Yoshiteru Kai, Satoshi Abe, Chiga Okita, Yasuaki Shirayoshi, Thomas C Schulz, Kazuma Tomizuka, Kazunori Hanaoka, Toshiaki Inoue, Mitsuo Oshimur. Human chromosome 21q22.2-qter carries a gene(s) responsible for downregulation of mlc2a and PEBP in Down syndrome model mice. Biochemical and biophysical research communications. vol 317. issue 2. 2004-06-01. PMID:15063784. |
congenital heart disease (chd) is a major clinical manifestation of down syndrome (ds). |
2004-06-01 |
2023-08-12 |
mouse |
| Y Kazuki, T C Schulz, T Shinohara, M Kadota, R Nishigaki, T Inoue, M Kimura, Y Kai, S Abe, Y Shirayoshi, M Oshimur. A new mouse model for Down syndrome. Journal of neural transmission. Supplementum. issue 67. 2004-05-24. PMID:15068235. |
trisomy 21 (ts21) is the most common live-born human aneuploidy and results in a constellation of features known as down syndrome (ds). |
2004-05-24 |
2023-08-12 |
mouse |
| K S Shim, R Ferrando-Miguel, G Lube. Aberrant protein expression of transcription factors BACH1 and ERG, both encoded on chromosome 21, in brains of patients with Down syndrome and Alzheimer's disease. Journal of neural transmission. Supplementum. issue 67. 2004-05-24. PMID:15068237. |
down syndrome (ds; trisomy 21) is a genetic disorder associated with early mental retardation and patients inevitably develop alzheimer's disease (ad)-like neuropathological changes. |
2004-05-24 |
2023-08-12 |
Not clear |
| S Y Sohn, R Weitzdoerfer, N Mori, G Lube. Transcription factor REST dependent proteins are comparable between Down syndrome and control brains: challenging a hypothesis. Journal of neural transmission. Supplementum. issue 67. 2004-05-24. PMID:15068239. |
impairment of the re-1-silencing transcription factor (rest) and rest-dependent genes in down syndrome (ds) neuronal progenitor cells and neurospheres has been published recently. |
2004-05-24 |
2023-08-12 |
Not clear |
| J B de Haan, B Susil, M Pritchard, I Kol. An altered antioxidant balance occurs in Down syndrome fetal organs: implications for the "gene dosage effect" hypothesis. Journal of neural transmission. Supplementum. issue 67. 2004-05-24. PMID:15068240. |
down syndrome (ds) is the congenital birth defect responsible for the greatest number of individuals with mental retardation. |
2004-05-24 |
2023-08-12 |
human |
| M Fountoulakis, T Gulesserian, G Lube. Overexpression of C1-tetrahydrofolate synthase in fetal Down syndrome brain. Journal of neural transmission. Supplementum. issue 67. 2004-05-24. PMID:15068241. |
two spots were significantly, about twofold, increased in fetal ds brain: controls [means +/- sd: (spot 1) 2.55 +/- 0.69; (spot 3) 1.39 +/- 0.86] vs. down syndrome [means +/- sd: (spot 1) 4.25 +/- 1.63; (spot 3) 4.43 +/- 2.13]. |
2004-05-24 |
2023-08-12 |
human |
| G Lubec, M Bajo, M S Cheon, H Bajova, L H Matherl. Increased expression of human reduced folate carrier in fetal Down syndrome brain. Journal of neural transmission. Supplementum. issue 67. 2004-05-24. PMID:15068242. |
down syndrome (trisomy of chromosome 21) (ds) is the most common genetic cause of mental retardation. |
2004-05-24 |
2023-08-12 |
human |
| K S Shim, J M Bergelson, M Furuse, V Ovod, T Krude, G Lube. Reduction of chromatin assembly factor 1 p60 and C21orf2 protein, encoded on chromosome 21, in Down syndrome brain. Journal of neural transmission. Supplementum. issue 67. 2004-05-24. PMID:15068244. |
trisomy 21 (down syndrome, ds) is the most common genetic cause of mental retardation, resulting from triplication of the whole or distal part of human chromosome 21. |
2004-05-24 |
2023-08-12 |
human |
| D Pollak, N Cairns, G Lube. Cytoskeleton derangement in brain of patients with Down syndrome, Alzheimer's disease and Pick's disease. Journal of neural transmission. Supplementum. issue 67. 2004-05-24. PMID:15068247. |
brain samples (frontal cortex) of controls (co), patients with down syndrome (ds), alzheimer's disease (ad) and pick's disease (pd) were used for the study. |
2004-05-24 |
2023-08-12 |
human |
| R Ferrando-Miguel, M S Cheon, J W Yang, G Lube. Overexpression of transcription factor BACH1 in fetal Down syndrome brain. Journal of neural transmission. Supplementum. issue 67. 2004-05-24. PMID:15068251. |
these transcription factors (tfs) are major candidates for playing a pathogenetic role for the abnormal wiring of the brain in fetal down syndrome (ds) as approximately 5,000 tfs are developmentally involved in the complex architecture of the human brain. |
2004-05-24 |
2023-08-12 |
human |
| B L Shapir. Down syndrome and associated congenital malformations. Journal of neural transmission. Supplementum. issue 67. 2004-05-24. PMID:15068252. |
congenital malformations are many times more common in individuals with down syndrome (ds) than in the general population. |
2004-05-24 |
2023-08-12 |
Not clear |
| G Lubec, S Y Soh. RNA microarray analysis of channels and transporters in normal and fetal Down syndrome (trisomy 21) brain. Journal of neural transmission. Supplementum. issue 67. 2004-05-24. PMID:15068253. |
a couple of transporters and channels has been proposed as candidate genes involved in the pathomechanisms leading to the neurodevelopmental abnormalities and the phenotype of down syndrome (ds, trisomy 21). |
2004-05-24 |
2023-08-12 |
human |
| M S Cheon, S H Kim, M Fountoulakis, G Lube. Heart type fatty acid binding protein (H-FABP) is decreased in brains of patients with Down syndrome and Alzheimer's disease. Journal of neural transmission. Supplementum. issue 67. 2004-05-24. PMID:15068254. |
these made us evaluate the protein levels of fabps in brains from patients with down syndrome (ds) and alzheimer's disease (ad) and fetal cerebral cortex with ds using two-dimensional (2-d) gel electrophoresis with subsequent matrix-assisted laser desorption ionization mass spectroscopy (maldi-ms) identification and specific software for quantification of proteins. |
2004-05-24 |
2023-08-12 |
human |
| C Frid, P Drott, P Otterblad Olausson, C Sundelin, G Anneré. Maternal and neonatal factors and mortality in children with Down syndrome born in 1973-1980 and 1995-1998. Acta paediatrica (Oslo, Norway : 1992). vol 93. issue 1. 2004-05-14. PMID:14989449. |
to investigate maternal and neonatal factors in down syndrome (ds) at birth, the impact of a congenital heart defect (chd) on these factors and changes over time. |
2004-05-14 |
2023-08-12 |
Not clear |
| Glynis Laws, Dorothy V M Bisho. A comparison of language abilities in adolescents with Down syndrome and children with specific language impairment. Journal of speech, language, and hearing research : JSLHR. vol 46. issue 6. 2004-05-13. PMID:14700358. |
this article compared the language profiles of adolescents with down syndrome (ds) and children with specific language impairment matched for nonverbal cognitive ability, and investigated whether similar relationships could be established between language measures and other capacities in both groups. |
2004-05-13 |
2023-08-12 |
Not clear |
| Toby N Behar, Carol A Colto. Redox regulation of neuronal migration in a Down Syndrome model. Free radical biology & medicine. vol 35. issue 6. 2004-05-12. PMID:12957649. |
down syndrome (ds), one of the major genetic causes of mental retardation, is characterized by disrupted corticogenesis produced, in part, by an abnormal layering of neurons in cortical laminas ii and iii. |
2004-05-12 |
2023-08-12 |
mouse |
| Momin Ahmed, Alexander Sternberg, Georgina Hall, Angela Thomas, Owen Smith, Aengus O'Marcaigh, Robert Wynn, Richard Stevens, Michael Addison, Derek King, Barbara Stewart, Brenda Gibson, Irene Roberts, Paresh Vya. Natural history of GATA1 mutations in Down syndrome. Blood. vol 103. issue 7. 2004-05-11. PMID:14656875. |
acquired mutations in megakaryocyte transcription factor gata1 have recently been reported in down syndrome (ds), transient myeloproliferative disorder (tmd), and acute megakaryoblastic leukemia (amkl). |
2004-05-11 |
2023-08-12 |
Not clear |
| M S Cheon, K S Shim, S H Kim, A Hara, G Lube. Protein levels of genes encoded on chromosome 21 in fetal Down syndrome brain: Challenging the gene dosage effect hypothesis (Part IV). Amino acids. vol 25. issue 1. 2004-05-06. PMID:12836057. |
down syndrome (ds) is the most frequent genetic disorder with mental retardation and caused by trisomy 21. |
2004-05-06 |
2023-08-12 |
human |