| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| D Hernandez, P J Mee, J E Martin, V L Tybulewicz, E M Fishe. Transchromosomal mouse embryonic stem cell lines and chimeric mice that contain freely segregating segments of human chromosome 21. Human molecular genetics. vol 8. issue 5. 1999-06-23. PMID:10196383. |
trisomy 21, which results in down syndrome (ds), is the most frequent aneuploidy in humans (1 in 600 live births, up to 1 in 150 pregnancies world-wide) and is the most common known genetic cause of mental retardation. |
1999-06-23 |
2023-08-12 |
mouse |
| C D Stowe, S J Phelp. Altered clearance of theophylline in children with Down syndrome: a case series. Journal of clinical pharmacology. vol 39. issue 4. 1999-06-23. PMID:10197294. |
down syndrome (ds) is a common cause of mental retardation resulting from trisomy 21. |
1999-06-23 |
2023-08-12 |
Not clear |
| R Seidl, S Fang-Kircher, B Bidmon, N Cairns, G Lube. Apoptosis-associated proteins p53 and APO-1/Fas (CD95) in brains of adult patients with Down syndrome. Neuroscience letters. vol 260. issue 1. 1999-06-18. PMID:10027687. |
in down syndrome (ds), enhanced apoptosis (programmed cell death) may play a role in the pathogenesis of characteristic mental retardation and precocious dementia of alzheimer-type. |
1999-06-18 |
2023-08-12 |
Not clear |
| J Garcia-Heras, P N Ra. A brief review of cryptic duplications of 21q as an emerging cause of Down syndrome: practical considerations for accurate detection. Clinical genetics. vol 55. issue 3. 1999-06-18. PMID:10334476. |
we review five cryptic duplications of 21q in patients with down syndrome (ds) that were inherited from parental balanced translocations. |
1999-06-18 |
2023-08-12 |
Not clear |
| A M Insausti, M Megías, D Crespo, L M Cruz-Orive, M Dierssen, I F Vallina, R Insausti, J Flórez, T F Vallin. Hippocampal volume and neuronal number in Ts65Dn mice: a murine model of Down syndrome. Neuroscience letters. vol 253. issue 3. 1999-06-07. PMID:9792239. |
ts65dn mouse displays a partial triplication of chromosome 16 and is adopted as a model for down syndrome (ds). |
1999-06-07 |
2023-08-12 |
mouse |
| R L Kramer, R K Jarve, Y Yaron, M P Johnson, J Lampinen, S B Kasperski, M I Evan. Determinants of parental decisions after the prenatal diagnosis of Down syndrome. American journal of medical genetics. vol 79. issue 3. 1999-06-02. PMID:9788556. |
all cases of down syndrome (ds) managed at a tertiary care center from 1989-1997 were retrospectively analyzed with respect to maternal age, parity, gestational age, sonographic findings, insurance status, and race. |
1999-06-02 |
2023-08-12 |
Not clear |
| R Goshen, B Gonik, I Ariel, Y Weiss, N de-Groot, A Hochber. High levels of maternal serum human chorionic gonadotropin in Down syndrome pregnancies: the possible role of a transcription factor on chromosome 21. Fetal diagnosis and therapy. vol 14. issue 2. 1999-05-27. PMID:10085509. |
increased levels of human chorionic gonadotropin (hcg) are used as markers for down syndrome (ds) screening of low-risk populations. |
1999-05-27 |
2023-08-12 |
human |
| S G Fang-Kircher, O Labudova, E Kitzmueller, H Rink, N Cairns, G Lube. Increased steady state mRNA levels of DNA-repair genes XRCC1, ERCC2 and ERCC3 in brain of patients with Down syndrome. Life sciences. vol 64. issue 18. 1999-05-26. PMID:10328528. |
although deficient dna-repair was proposed for neurodegenerative disorders including down syndrome (ds), repair genes for nucleotide excision repair or x-ray repair have not been studied in brain yet. |
1999-05-26 |
2023-08-12 |
human |
| L Kent, J Evans, M Paul, M Shar. Comorbidity of autistic spectrum disorders in children with Down syndrome. Developmental medicine and child neurology. vol 41. issue 3. 1999-05-17. PMID:10210247. |
the aim of the study was to identify the comorbidity of autistic spectrum disorders in a population of children with down syndrome (ds). |
1999-05-17 |
2023-08-12 |
Not clear |
| C Gjertson, K S Sturm, C N Berge. Hematopoietic deficiencies and core binding factor expression in murine Ts16, an animal model for Down syndrome. Clinical immunology (Orlando, Fla.). vol 91. issue 1. 1999-05-17. PMID:10219254. |
patients with down syndrome (ds, trisomy 21) suffer from hematopoietic abnormalities, including an increased risk to develop leukemia. |
1999-05-17 |
2023-08-12 |
mouse |
| E Casals, C Aibar, J M Martínez, A Borrell, A Soler, J Ojuel, A M Ballesta, A Fortun. First-trimester biochemical markers for Down syndrome. Prenatal diagnosis. vol 19. issue 1. 1999-04-29. PMID:10073898. |
the value of maternal serum pregnancy-associated protein a (papp-a), free and total beta human chorionic gonadotrophin (fbetahcg, betahcg) and alpha-fetoprotein (afp) in screening for down syndrome (ds) in early pregnancy has been assessed. |
1999-04-29 |
2023-08-12 |
human |
| O Labudova, N Cairns, T Koeck, E Kitzmueller, H Rink, G Lube. Thyroid stimulating hormone-receptor overexpression in brain of patients with Down syndrome and Alzheimer's disease. Life sciences. vol 64. issue 12. 1999-04-29. PMID:10210286. |
thyroid hormone abnormalities are strongly associated with down syndrome (ds) with elevated thyroid stimulating hormone (tsh) levels as the most consistent finding. |
1999-04-29 |
2023-08-12 |
Not clear |
| S E Cole, T Wiltshire, R H Reeve. Physical mapping of the evolutionary boundary between human chromosomes 21 and 22 on mouse chromosome 10. Genomics. vol 50. issue 1. 1999-04-07. PMID:9628829. |
comparative mapping in this region is important for defining gene structure and dosage imbalance in down syndrome (ds), for developing animal models of ds, and for understanding processes of chromosome evolution. |
1999-04-07 |
2023-08-12 |
mouse |
| M Ezquerra, F Ballesta, R Queralt, R Aledo, D Gómez, M Guitart, J Egozcue, C Ascaso, R Oliv. Apolipoprotein E epsilon 4 alleles and meiotic origin of non-disjunction in Down syndrome children and in their corresponding fathers and mothers. Neuroscience letters. vol 248. issue 1. 1999-03-30. PMID:9665649. |
an increased risk of alzheimer disease (ad) has been reported in young mothers of down syndrome (ds) probands. |
1999-03-30 |
2023-08-12 |
Not clear |
| K Sugita, N Suzuki, K Ohno, Y Suzuki, J I Takanashi, K Kita, H Yamamori, N Nakajim. Detection of UV-induced K-ras codon 12 mutation by PCR and differential dot-blot hybridization in cells from Down syndrome and Cockayne syndrome. Oncology reports. vol 6. issue 1. 1999-03-22. PMID:9864418. |
by means of the polymerase chain reaction (pcr) and differential dot-blot hybridization, base substitution mutations of k-ras codon 12 were investigated in skin fibroblast cells from down syndrome (ds) patients. |
1999-03-22 |
2023-08-12 |
Not clear |
| S V Jovanovic, D Clements, K MacLeo. Biomarkers of oxidative stress are significantly elevated in Down syndrome. Free radical biology & medicine. vol 25. issue 9. 1999-03-16. PMID:9870557. |
there is convincing epidemiological and in vitro evidence of chronic oxidative stress in individuals with down syndrome (ds). |
1999-03-16 |
2023-08-12 |
human |
| S B Freeman, L F Taft, K J Dooley, K Allran, S L Sherman, T J Hassold, M J Khoury, D M Sake. Population-based study of congenital heart defects in Down syndrome. American journal of medical genetics. vol 80. issue 3. 1999-02-25. PMID:9843040. |
mental retardation and hypotonia are found in virtually all down syndrome (ds) individuals, whereas congenital heart defects (chds) are only present in a subset of cases. |
1999-02-25 |
2023-08-12 |
Not clear |
| S Greber-Platzer, D Schatzmann-Turhani, G Wollenek, G Lube. Evidence against the current hypothesis of "gene dosage effects" of trisomy 21: ets-2, encoded on chromosome 21" is not overexpressed in hearts of patients with Down Syndrome. Biochemical and biophysical research communications. vol 254. issue 2. 1999-02-23. PMID:9918849. |
the major current concept for the pathogenesis of the down syndrome (ds) phenotype including congenital heart disease (chd) is the so-called "gene dosage effect." |
1999-02-23 |
2023-08-12 |
Not clear |
| C P Torfs, R E Christianso. Anomalies in Down syndrome individuals in a large population-based registry. American journal of medical genetics. vol 77. issue 5. 1999-02-05. PMID:9632176. |
in a population of close to 2.5 million infants born from 1983 to 1993 registered in the california birth defects monitoring program, we compared the prevalence of structural birth defects among 2,894 infants with down syndrome (ds) with that of infants without ds. |
1999-02-05 |
2023-08-12 |
Not clear |
| M Peled-Kamar, H Degani, P Bendel, R Margalit, Y Grone. Altered brain glucose metabolism in transgenic-PFKL mice with elevated L-phosphofructokinase: in vivo NMR studies. Brain research. vol 810. issue 1-2. 1999-01-29. PMID:9813288. |
the gene for the liver-type subunit of phosphofructokinase (pfkl) resides on chromosome 21 and is overexpressed in down syndrome (ds) patients. |
1999-01-29 |
2023-08-12 |
mouse |