| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| D E Cabin, K Gardiner, R H Reeve. Molecular genetic characterization and comparative mapping of the human PCP4 gene. Somatic cell and molecular genetics. vol 22. issue 3. 1996-12-18. PMID:8914602. |
to further characterize pcp4 and its possible contribution to cerebellar hypoplasia in trisomy 21, or down syndrome (ds), we cloned and sequenced the full length human cdna, isolated a yac which carries the entire gene, determined the gene structure, and characterized its expression. |
1996-12-18 |
2023-08-12 |
mouse |
| M E Coussons-Read, L S Crni. Behavioral assessment of the Ts65Dn mouse, a model for Down syndrome: altered behavior in the elevated plus maze and open field. Behavior genetics. vol 26. issue 1. 1996-12-17. PMID:8852727. |
the ts65dn mouse carries a partial trisomy for mouse chromosome 16 in a region that has high homology to the down syndrome (ds) region of human chromosome 21 and is, thus, a potential animal model of ds. |
1996-12-17 |
2023-08-12 |
mouse |
| D Risser, Z B You, N Cairns, M Herrera-Marschitz, R Seidl, C Schneider, L Terenius, G Lube. Endogenous opioids in frontal cortex of patients with Down syndrome. Neuroscience letters. vol 203. issue 2. 1996-12-09. PMID:8834106. |
the main purpose of this study was to investigate differences regarding endogenous opioids in post-mortem frontal cortex of adult patients with down syndrome (ds), patients with alzheimer disease (ad) and neurologically healthy persons, respectively, using specific radioimmunoassays. |
1996-12-09 |
2023-08-12 |
Not clear |
| M B Schapiro, D G Murphy, R J Hagerman, N P Azari, G E Alexander, C M Miezejeski, V J Hinton, B Horwitz, J V Haxby, A Kuma. Adult fragile X syndrome: neuropsychology, brain anatomy, and metabolism. American journal of medical genetics. vol 60. issue 6. 1996-12-05. PMID:8825884. |
controls for the ct studies were 20 healthy males (age range 21-37 yr), controls for the pet studies were 9 healthy males (age range 22-31 yr), and controls for the neuropsychological tests were 10 young adult, male down syndrome (ds) subjects (age range 22-31 yr). |
1996-12-05 |
2023-08-12 |
human |
| R M Viner, N Shimura, B D Brown, A J Green, I A Hughe. Down syndrome in association with features of the androgen insensitivity syndrome. Journal of medical genetics. vol 33. issue 7. 1996-12-03. PMID:8818943. |
three cases of down syndrome (ds) are reported in association with features of the androgen insensitivity syndrome (ais). |
1996-12-03 |
2023-08-12 |
Not clear |
| M David, R Merksamer, N Israel, H Da. Unconjugated estriol as maternal serum marker for the detection of Down syndrome pregnancies. Fetal diagnosis and therapy. vol 11. issue 2. 1996-12-03. PMID:8838765. |
the effectiveness of unconjugated estriol (ue3) as a serum marker for the detection of down syndrome (ds) during the 2nd trimester of pregnancy was evaluated. |
1996-12-03 |
2023-08-12 |
human |
| A L Politoff, R P Stadter, N Monson, P Has. Cognition-related EEG abnormalities in nondemented Down syndrome subjects. Dementia (Basel, Switzerland). vol 7. issue 2. 1996-12-03. PMID:8866678. |
down syndrome (ds) subjects develop alzheimer disease (ad) histopathology before they develop dementia. |
1996-12-03 |
2023-08-12 |
human |
| A Marks, D O'Hanlon, M Lei, M E Percy, L E Becke. Accumulation of S100 beta mRNA and protein in cerebellum during infancy in Down syndrome and control subjects. Brain research. Molecular brain research. vol 36. issue 2. 1996-12-03. PMID:8965656. |
in order to investigate the effect of trisomy 21 on s100 beta gene expression, we performed southern, northern and western blot analysis on dna, rna and protein, respectively, extracted from the cerebellum of control and down syndrome (ds) subjects aged 1-18 months. |
1996-12-03 |
2023-08-12 |
human |
| A L Christianson, J G Kromber. Maternal non-recognition of Down syndrome in black South African infants. Clinical genetics. vol 49. issue 3. 1996-11-22. PMID:8737979. |
down syndrome (ds), one of the commonest causes of mental retardation in caucasoids, has only rarely been described in africa. |
1996-11-22 |
2023-08-12 |
Not clear |
| J Wegiel, H M Wisniewski, J Dziewiatkowski, E R Popovitch, M Tarnawsk. Differential susceptibility to neurofibrillary pathology among patients with Down syndrome. Dementia (Basel, Switzerland). vol 7. issue 3. 1996-11-07. PMID:8740627. |
individual differences in the development of neurofibrillary changes were examined in eight cortical regions in the brains of 43 subjects with down syndrome (ds; age range, 15-69 years) using sections stained with monoclonal antibodies (mab) tau-1 and 3-39. |
1996-11-07 |
2023-08-12 |
human |
| J Wegiel, H M Wisniewski, J Dziewiatkowski, E R Popovitch, M Tarnawsk. Differential susceptibility to neurofibrillary pathology among patients with Down syndrome. Dementia (Basel, Switzerland). vol 7. issue 3. 1996-11-07. PMID:8740627. |
comparison of these three groups of down syndrome subjects representing high, moderate, and low susceptibility to neurofibrillary changes with the general population suggests that the risk of alzheimer disease is similar but the onset of pathological changes is earlier in ds. |
1996-11-07 |
2023-08-12 |
human |
| M Ohira, A Ootsuyama, E Suzuki, H Ichikawa, N Seki, T Nagase, N Nomura, M Ohk. Identification of a novel human gene containing the tetratricopeptide repeat domain from the Down syndrome region of chromosome 21. DNA research : an international journal for rapid publication of reports on genes and genomes. vol 3. issue 1. 1996-11-04. PMID:8724848. |
the down syndrome (ds) region on chromosome 21, which is responsible for the ds main features, has been defined by analysis of ds patients with partial trisomy 21. |
1996-11-04 |
2023-08-12 |
human |
| E Casals, A Fortuny, J G Grudzinskas, Y Suzuki, B Teisner, C Comas, C Sanllehy, J Ojuel, A Borrell, A Soler, A M Ballest. First-trimester biochemical screening for Down syndrome with the use of PAPP-A, AFP, and beta-hCG. Prenatal diagnosis. vol 16. issue 5. 1996-11-01. PMID:8843997. |
biochemical screening for down syndrome (ds) is well established in the second trimester of pregnancy, but there is little information available on its value in the first trimester. |
1996-11-01 |
2023-08-12 |
Not clear |
| G C Christiaens, A M Hagenaars, C Akkerman, H F De Franc. Are Down syndrome fetuses detected through maternal serum screening similar to those remaining undetected? Prenatal diagnosis. vol 16. issue 5. 1996-11-01. PMID:8844002. |
this study was designed to examine whether fetuses with down syndrome (ds) identified through serum screening are different from those whose mothers have normal serum screening results. |
1996-11-01 |
2023-08-12 |
human |
| B R Brandt, I Rosé. Impaired peripheral somatosensory function in children with Down syndrome. Neuropediatrics. vol 26. issue 6. 1996-10-28. PMID:8719746. |
sensory neurography of the median nerve was performed bilaterally in 6 children with down syndrome (ds) aged 11-16 years and in 10 healthy controls of similar age. |
1996-10-28 |
2023-08-12 |
human |
| P P Wang, S Doherty, S B Rourke, U Bellug. Unique profile of visuo-perceptual skills in a genetic syndrome. Brain and cognition. vol 29. issue 1. 1996-10-23. PMID:8845123. |
williams syndrome (ws) and down syndrome (ds) are genetic disorders with characteristic neuropsychological profiles. |
1996-10-23 |
2023-08-12 |
human |
| J Yao, C Kitt, R H Reeve. Chronic elevation of S100 beta protein does not alter APP mRNA expression or promote beta-amyloid deposition in the brains of aging transgenic mice. Brain research. vol 702. issue 1-2. 1996-10-22. PMID:8846093. |
elevated levels of s100 beta protein have been observed in the brains of individuals with alzheimer disease (ad), as well as in those with down syndrome (ds). |
1996-10-22 |
2023-08-12 |
mouse |
| C Mosquera Tenreiro, J Fernández Toral, J Espinosa Pérez, E García López, M González-Rico, C Moro Bayón, I Riaño Galán, A Rodríguez Fernández, E Suárez Menéndez, F Ariza Hevi. [Prevalence of Down's syndrome in Asturias, 1987-1993. Members of the Work Group of the RCDA]. Gaceta sanitaria. vol 10. issue 53. 1996-10-21. PMID:8755157. |
to determine the frequency of down syndrome (ds) in asturias and the prenatal diagnosis impact on the birth prevalence of this chromosomal anomaly. |
1996-10-21 |
2023-08-12 |
Not clear |
| M Nadal, M Milà, M Pritchard, A Mur, J Pujals, J L Blouin, S E Antonarakis, F Ballesta, X Estivil. YAC and cosmid FISH mapping of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome. Human genetics. vol 98. issue 4. 1996-10-15. PMID:8792823. |
most cases of down syndrome (ds) result from a supernumerary chromosome 21; however, there are rare cases in which ds is due to partial trisomy of chromosome 21, involving various segments of the chromosome. |
1996-10-15 |
2023-08-12 |
Not clear |
| O David, G C Fiorucci, M T Tosi, F Altare, A Valori, P Saracco, P Asinardi, U Ramenghi, V Gabutt. Hematological studies in children with Down syndrome. Pediatric hematology and oncology. vol 13. issue 3. 1996-10-04. PMID:8735344. |
previous studies have reported erythrocyte macrocytosis in adults and children with down syndrome (ds), the significance of which remains unclear. |
1996-10-04 |
2023-08-12 |
Not clear |