| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Jean-Louis Guéant, Rosa-Maria Guéant-Rodriguez, Guido Anello, Paolo Bosco, Laurent Brunaud, Corrado Romano, Rafaele Ferri, Antonino Romano, Mirande Candito, Bernard Namou. Genetic determinants of folate and vitamin B12 metabolism: a common pathway in neural tube defect and Down syndrome? Clinical chemistry and laboratory medicine. vol 41. issue 11. 2004-02-06. PMID:14656028. |
down syndrome (ds) is due to a failure of normal chromosomal segregation during meiosis, possibly related to one-carbon metabolism. |
2004-02-06 |
2023-08-12 |
Not clear |
| A E Chudley, B N Chodirke. Landmarks in genetics through philately: Down syndrome. Clinical genetics. vol 63. issue 4. 2004-02-03. PMID:12702159. |
down syndrome (ds) is one of the most common chromosomal disorders; however, the molecular pathogenesis and cause remains elusive. |
2004-02-03 |
2023-08-12 |
Not clear |
| R J Haier, M T Alkire, N S White, M R Uncapher, E Head, I T Lott, C W Cotma. Temporal cortex hypermetabolism in Down syndrome prior to the onset of dementia. Neurology. vol 61. issue 12. 2004-02-03. PMID:14694028. |
adults with down syndrome (ds) are at increased risk for dementia and provide an opportunity to identify patterns of brain activity that may precede dementia. |
2004-02-03 |
2023-08-12 |
Not clear |
| Katheleen Gardiner, Andrew Fortna, Lawrence Bechtel, Muriel T Davisso. Mouse models of Down syndrome: how useful can they be? Comparison of the gene content of human chromosome 21 with orthologous mouse genomic regions. Gene. vol 318. 2004-01-20. PMID:14585506. |
with an incidence of approximately 1 in 700 live births, down syndrome (ds) remains the most common genetic cause of mental retardation. |
2004-01-20 |
2023-08-12 |
mouse |
| R Boy, J G Neto, F R Vargas, C Fontana, J C Almeida, J Lleren. [Down Syndrome--a clinical, cytogenetic and epidemiologic analysis of 165 patients]. Jornal de pediatria. vol 71. issue 2. 2004-01-19. PMID:14689024. |
a clinical follow up of 165 down syndrome (ds) patients in an outpatient clinic programme at the centro de genética médica (iff - fiocruz) was undertaken retrospectively. |
2004-01-19 |
2023-08-12 |
Not clear |
| Arie Herman, Eliezer Dreazen, Yosef Tovbin, Orit Reish, Ian Bukovsky, Ron Maymo. Correlation and overlapping between nuchal translucency and triple test among Down syndrome-affected pregnancies. Fetal diagnosis and therapy. vol 18. issue 3. 2004-01-09. PMID:12711876. |
to examine the correlation and extent of overlapping between first-trimester nuchal translucency (nt) and second-trimester triple test (tt) results in down syndrome (ds)-affected pregnancies. |
2004-01-09 |
2023-08-12 |
Not clear |
| John P Scholz, Ning Kang, David Patterson, Mark L Latas. Uncontrolled manifold analysis of single trials during multi-finger force production by persons with and without Down syndrome. Experimental brain research. vol 153. issue 1. 2004-01-05. PMID:12928761. |
we also applied the single-trial ucm method to re-analyze previously published data from another experiment to study the motor variability in a group of persons with down syndrome (ds) because these persons have difficulty in motor planning and timing as well as in force stabilization. |
2004-01-05 |
2023-08-12 |
human |
| B J Turner, E C Lopes, S S Cheem. The serotonin precursor 5-hydroxytryptophan delays neuromuscular disease in murine familial amyotrophic lateral sclerosis. Amyotrophic lateral sclerosis and other motor neuron disorders : official publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases. vol 4. issue 3. 2003-12-29. PMID:14527871. |
reduction in the levels of whole-blood serotonin is a common feature of down syndrome (ds) individuals and transgenic mice overexpressing wild-type sod1. |
2003-12-29 |
2023-08-12 |
mouse |
| Pablo Bertrand, Hector Navarro, Solange Caussade, Nils Holmgren, Ignacio Sánche. Airway anomalies in children with Down syndrome: endoscopic findings. Pediatric pulmonology. vol 36. issue 2. 2003-12-16. PMID:12833493. |
down syndrome (ds) is the most common chromosomal anomaly in humans. |
2003-12-16 |
2023-08-12 |
Not clear |
| Chetana Bakshi, Pratibha Amare Kadam, Dhiraj Abhyankar, Chanda Baisane, Shripad Banavali, Suresh Advan. Chromosomal rearrangement in Down syndrome with acute myeloid leukemia. Indian journal of pediatrics. vol 70. issue 9. 2003-12-16. PMID:14620194. |
the incidence of acute leukemia in children with down syndrome (ds) is high as compared to general population. |
2003-12-16 |
2023-08-12 |
Not clear |
| Paolo Bosco, Rosa-Maria Guéant-Rodriguez, Guido Anello, Concetta Barone, Farès Namour, Filippo Caraci, Antonino Romano, Corrado Romano, Jean-Louis Guéan. Methionine synthase (MTR) 2756 (A --> G) polymorphism, double heterozygosity methionine synthase 2756 AG/methionine synthase reductase (MTRR) 66 AG, and elevated homocysteinemia are three risk factors for having a child with Down syndrome. American journal of medical genetics. Part A. vol 121A. issue 3. 2003-12-12. PMID:12923861. |
contradictory findings have been recently published on the evaluation of genetic polymorphisms of methylenetetrahydrofolate reductase (mthfr 677 c-->t) and methionine synthase reductase (mtrr 66 a-->g) as risk factors for having a child with down syndrome (ds); however, the influence of polymorphisms of methionine synthase (mtr 2756 a-->g) and of mthfr 1298 a-->c has never been evaluated. |
2003-12-12 |
2023-08-12 |
human |
| Rong Mao, Carol L Zielke, H Ronald Zielke, Jonathan Pevsne. Global up-regulation of chromosome 21 gene expression in the developing Down syndrome brain. Genomics. vol 81. issue 5. 2003-12-11. PMID:12706104. |
down syndrome (ds) results from complete or partial triplication of human chromosome 21. |
2003-12-11 |
2023-08-12 |
human |
| Myriam Guerra, Natalia Llorens, Bo Fernhal. Chronotropic incompetence in persons with down syndrome. Archives of physical medicine and rehabilitation. vol 84. issue 11. 2003-12-09. PMID:14639558. |
to investigate the chronotropic response to exercise through peak heart rate and the chronotropic response index (cri) in participants with down syndrome (ds) and in nondisabled control participants. |
2003-12-09 |
2023-08-12 |
human |
| Kimberly Bell, David Shokrian, Carl Potenzieri, Patricia M Whitaker-Azmiti. Harm avoidance, anxiety, and response to novelty in the adolescent S-100beta transgenic mouse: role of serotonin and relevance to Down syndrome. Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology. vol 28. issue 10. 2003-12-05. PMID:12888777. |
in humans, the gene for s-100beta is found on chromosome 21, within the region that is considered important for the phenotype of down syndrome (ds). |
2003-12-05 |
2023-08-12 |
mouse |
| E W Wolvetang, O M Bradfield, M Tymms, S Zavarsek, T Hatzistavrou, I Kola, P J Hertzo. The chromosome 21 transcription factor ETS2 transactivates the beta-APP promoter: implications for Down syndrome. Biochimica et biophysica acta. vol 1628. issue 2. 2003-12-04. PMID:12890557. |
the gene that codes for beta-amyloid precursor protein (beta-app), a protein centrally involved in senile plaque formation in down syndrome (ds) and alzheimer's disease (ad), is located on chromosome 21. |
2003-12-04 |
2023-08-12 |
mouse |
| Nathan S White, Michael T Alkire, Richard J Haie. A voxel-based morphometric study of nondemented adults with Down Syndrome. NeuroImage. vol 20. issue 1. 2003-11-21. PMID:14527599. |
previous structural brain imaging studies of down syndrome (ds) have offered important insights into the underlying morphometric aberrations associated with the condition. |
2003-11-21 |
2023-08-12 |
Not clear |
| B Bäckman, A-C Grevér-Sjölander, A-K Holm, I Johansso. Children with Down Syndrome: oral development and morphology after use of palatal plates between 6 and 18 months of age. International journal of paediatric dentistry. vol 13. issue 5. 2003-11-20. PMID:12924988. |
the aim of this study was to describe oral development and morphology in 18-month-old children with down syndrome (ds) treated with palatal plates in combination with structured communication and speech training. |
2003-11-20 |
2023-08-12 |
Not clear |
| E Head, I T Lott, P R Hof, C Bouras, J H Su, R Kim, R Haier, C W Cotma. Parallel compensatory and pathological events associated with tau pathology in middle aged individuals with Down syndrome. Journal of neuropathology and experimental neurology. vol 62. issue 9. 2003-10-28. PMID:14533781. |
aged individuals with down syndrome (ds) develop senile plaques and neurofibrillary tangles consistent with alzheimer disease (ad). |
2003-10-28 |
2023-08-12 |
Not clear |
| Alan S Gamis, William G Woods, Todd A Alonzo, Allen Buxton, Beverly Lange, Dorothy R Barnard, Stuart Gold, Franklin O Smit. Increased age at diagnosis has a significantly negative effect on outcome in children with Down syndrome and acute myeloid leukemia: a report from the Children's Cancer Group Study 2891. Journal of clinical oncology : official journal of the American Society of Clinical Oncology. vol 21. issue 18. 2003-10-23. PMID:12885836. |
to determine the outcome of children with down syndrome (ds) and acute myeloid leukemia (aml) receiving standard timing chemotherapy without bone marrow transplantation (bmt), with determination of prognostic factors. |
2003-10-23 |
2023-08-12 |
Not clear |
| Monika Maria Eisermann, A DeLaRaillère, G Dellatolas, E Tozzi, R Nabbout, O Dulac, C Chiro. Infantile spasms in Down syndrome--effects of delayed anticonvulsive treatment. Epilepsy research. vol 55. issue 1-2. 2003-10-23. PMID:12948613. |
to investigate the impact of treatment lag in infantile spasms (is) on treatment response, occurrence of later epilepsy, and long-term cognition and behavior in patients with one single etiological entity, we examined 18 patients with down syndrome (ds) and earlier is retrospectively (follow-up period of 32-180 months with a mean of 85.1 months), and determined their history and present condition, in terms of previously mentioned items. |
2003-10-23 |
2023-08-12 |
Not clear |