Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
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 |
L S Barenfel'd, S G Nergadze, N M Pleskach, V M Mikhel'so. [The retardation of DNA synthesis in adjacent replicon clusters in the lymphocytes of patients with Down's syndrome as a model of premature aging]. Tsitologiia. vol 37. issue 9-10. 1996-10-04. PMID:8815603. |
in peripheral blood lymphocytes taken from 7 patients with down syndrome (ds) and 2 normal donors, using dna fiber autoradiography, we estimated the rate of dna-chain growth, which depends oil the number of simultaneously replicating adjacent replicon clusters, but not on the rate of fork movement. |
1996-10-04 |
2023-08-12 |
Not clear |
C Schepis, M Siragusa, R Palazzo, D Batolo, C Roman. Milia-like idiopathic calcinosis cutis: an unusual dermatosis associated with Down syndrome. The British journal of dermatology. vol 134. issue 1. 1996-10-02. PMID:8745902. |
we describe two boys affected by down syndrome (ds), who showed milia-like idiopathic calcinosis cutis (micc). |
1996-10-02 |
2023-08-12 |
Not clear |
Z Johnson, D Lillis, V Delany, C Hayes, P Dac. The epidemiology of Down syndrome in four counties in Ireland 1981-1990. Journal of public health medicine. vol 18. issue 1. 1996-09-23. PMID:8785080. |
we conducted a descriptive epidemiological study of down syndrome (ds) in the four irish counties (dublin, kildare, wicklow and galway) covered by eurocat registries of congenital malformations for the years 1981-1990. |
1996-09-23 |
2023-08-12 |
Not clear |
R Seidl, S Beninati, N Cairns, N Singewald, D Risser, H Bavan, M Nemethova, G Lube. Polyamines in frontal cortex of patients with Down syndrome and Alzheimer disease. Neuroscience letters. vol 206. issue 2-3. 1996-09-12. PMID:8710184. |
we investigated polyamine levels in frontal cortex of human post-mortem brain samples of elderly patients with down syndrome (ds), alzheimer disease (ad) and normal controls by means of chromatographic separation after dansylation. |
1996-09-12 |
2023-08-12 |
human |
J C Kupferman, C L Stewart, F J Kaskel, R N Fin. Posterior urethral valves in patients with Down syndrome. Pediatric nephrology (Berlin, Germany). vol 10. issue 2. 1996-09-11. PMID:8703697. |
renal and urological anomalies in down syndrome (ds) have received little attention compared with the nephrourological findings described in other chromosomal abnormalities. |
1996-09-11 |
2023-08-12 |
Not clear |
N Niikaw. [Positional cloning of the putative gene responsible for transient abnormal myelopoiesis and that for multiple cartilaginous exostoses]. Rinsho byori. The Japanese journal of clinical pathology. vol 44. issue 1. 1996-08-23. PMID:8691634. |
tam is a leukemoid reaction occurring frequently in down syndrome (ds) newborn infants and they often develop true leukemia several years later. |
1996-08-23 |
2023-08-12 |
Not clear |
R J Reiter, L Barlow-Walden, B Poeggeler, S M Heiden, R J Clayto. Twenty-four hour urinary excretion of 6-hydroxymelatonin sulfate in Down syndrome subjects. Journal of pineal research. vol 20. issue 1. 1996-07-25. PMID:8648562. |
because of the overexpression of the enzyme superoxide dismutase, individuals with down syndrome (ds) are believed to suffer from increased oxidative stress as a result of the excessive production of oxygen-based free radicals; their exposure to higher than normal free radical production may account in part for signs of premature aging, early onset of cataracts, and of alzheimer's disease. |
1996-07-25 |
2023-08-12 |
human |
R P Parshad, K K Sanford, F M Price, L K Melnick, L E Nee, M B Schapiro, R E Tarone, J H Robbin. Fluorescent light-induced chromatid breaks distinguish Alzheimer disease cells from normal cells in tissue culture. Proceedings of the National Academy of Sciences of the United States of America. vol 93. issue 10. 1996-07-18. PMID:8643543. |
the neurodegeneration and amyloid deposition of sporadic alzheimer disease (ad) also occur in familial ad and in all trisomy-21 down syndrome (ds) patients, suggesting a common pathogenetic mechanism. |
1996-07-18 |
2023-08-12 |
Not clear |
V Conter, P D'Angelo, C Rizzari, M Jankovic, C Dampier, G Masera, F L Johnso. High-dose cytosine arabinoside and fractionated total body irradiation as a preparative regimen for the treatment of children with acute lymphoblastic leukemia and Down syndrome by allogeneic bone marrow transplantation. Bone marrow transplantation. vol 17. issue 2. 1996-07-17. PMID:8640182. |
the early toxicity, incidence of graft-versus-host disease (gvhd) and long-term follow-up were evaluated in two children with down syndrome (ds) treated for acute lymphoblastic leukemia (all) in second complete remission by hla-matched sibling allogeneic bone marrow transplantation (bmt). |
1996-07-17 |
2023-08-12 |
Not clear |
T Ohta, M Nakano, T Tsujita, K Abe, K Osoegawa, T Yamagata, K Yoshiura, Y Jinno, E Soeda, Y Nakamura, N Niikaw. Isolation of a cosmid clone corresponding to an inv(21) breakpoint of a patient with transient abnormal myelopoiesis. American journal of human genetics. vol 58. issue 3. 1996-07-16. PMID:8644714. |
transient abnormal myelopoiesis (tam) is a leukemoid reaction occurring occasionally on down syndrome (ds) newborn infants. |
1996-07-16 |
2023-08-12 |
Not clear |
H Baran, N Cairns, B Lubec, G Lube. Increased kynurenic acid levels and decreased brain kynurenine aminotransferase I in patients with Down syndrome. Life sciences. vol 58. issue 21. 1996-07-05. PMID:8637415. |
we measured the endogenous levels of kyna and activities of kyna synthesizing enzymes kynurenine aminotransferase i (kat i) and kynurenine aminotransferase ii (kat ii) in the frontal and temporal cortex of elderly down syndrome (ds) patients (aged 46-69 years). |
1996-07-05 |
2023-08-12 |
Not clear |