Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
Martine Hennequin, Denise Faulks, Paul J Alliso. Parents' ability to perceive pain experienced by their child with Down syndrome. Journal of orofacial pain. vol 17. issue 4. 2004-02-18. PMID:14737880. |
to investigate parents' ability to perceive pain experienced by their offspring with down syndrome (ds). |
2004-02-18 |
2023-08-12 |
Not clear |
Jesús de Rubens Figueroa, Blanca del Pozzo Magaña, José L Pablos Hach, Claudia Calderón Jiménez, Rocío Castrejón Urbin. [Heart malformations in children with Down syndrome]. Revista espanola de cardiologia. vol 56. issue 9. 2004-02-13. PMID:14519277. |
a longitudinal, retrospective, observational descriptive study was done at the national institute of pediatrics in mexico city to determine the incidence, type of heart disease and clinical course in patients with down syndrome (ds), and to compare the findings with data from other countries. |
2004-02-13 |
2023-08-12 |
Not clear |
Jinmin Mia. Margareta Mikkelsen. American journal of medical genetics. Part A. vol 120A. issue 1. 2004-02-10. PMID:12794709. |
dr. mikkelsen played a pioneering role in research on down syndrome (ds) and exploring the source of the extra chromosome 21 remains her main interest. |
2004-02-10 |
2023-08-12 |
human |
Ana Tereza de A Oliveira, Carlos A Longui, Eduardo P Luis Calliari, Eduardo de A Ferone, Fábio S Kawaguti, Osmar Mont. [Evaluation of the hypothalamic-pituitary-thyroid axis in children with Down syndrome]. Jornal de pediatria. vol 78. issue 4. 2004-02-09. PMID:14647760. |
to determine the thyroid stimulating hormone (tsh) secretion in children with down syndrome (ds), who do not present clinical and laboratory evidence of classical hypothyroidism and concomitant undetectable antibodies. |
2004-02-09 |
2023-08-12 |
Not clear |
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 |