| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Kenji Murata, Sean Degmetich, Masato Kinoshita, Eriko Shimad. Expression of the congenital heart disease 5/tryptophan rich basic protein homologue gene during heart development in medaka fish, Oryzias latipes. Development, growth & differentiation. vol 51. issue 2. 2009-03-16. PMID:19207181. |
in humans, this chd5/wrb is located between the markers actl5-d21s268 within the down syndrome (ds) region-2 at chromosome 21. |
2009-03-16 |
2023-08-12 |
human |
| Wen Wang, Wei Xie, Xiu ying Wan. [The relationship between polymorphism of gene involved in folate metabolism, homocysteine level and risk of Down syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. vol 24. issue 5. 2009-03-13. PMID:17922421. |
to investigate whether the polymorphism in methylenetetrahydrofolate reductase (mthfr) gene involved in folate metabolism is associated with down syndrome (ds). |
2009-03-13 |
2023-08-12 |
Not clear |
| b' Bojana Brajenovi\\xc4\\x87-Mili\\xc4\\x87, Igor Prpi\\xc4\\x87, Oleg Petrovi\\xc4\\x87, Smiljana Risti\\xc4\\x87, Gordana Brumini, Miljenko Kapovi\\xc4\\x8. The prevalence of live birth Down syndrome in the region of Primorsko-goranska County in Croatia, 1996-2005: the impact of screening and amniocentesis. Maternal and child health journal. vol 12. issue 5. 2009-03-12. PMID:17712614.' |
to investigate the prevalence of live birth down syndrome (ds) in the region of primorsko-goranska county (pgc) in croatia from 1996 to 2005 and to evaluate the impact of second-trimester maternal serum screening (mss) and amniocentesis on live birth ds prevalence. |
2009-03-12 |
2023-08-12 |
Not clear |
| Aaron J Knox, Christine Graham, John Bleskan, Gary Brodsky, David Patterso. Mutations in the Chinese hamster ovary cell GART gene of de novo purine synthesis. Gene. vol 429. issue 1-2. 2009-03-02. PMID:19007868. |
the gart gene is located on human chromosome 21 and is aberrantly regulated and overexpressed in individuals with down syndrome (ds), and may be involved in the phenotype of ds. |
2009-03-02 |
2023-08-12 |
human |
| Mariela Valle, Sharon E Plon, Karen R Rabi. Differential in vitro cytotoxicity does not explain increased host toxicities from chemotherapy in Down syndrome acute lymphoblastic leukemia. Leukemia research. vol 33. issue 2. 2009-02-27. PMID:18718659. |
treatment-related toxicities such as mucositis and infections are both more frequent and more severe in children with down syndrome (ds) and acute lymphoblastic leukemia (all) compared to non-ds all. |
2009-02-27 |
2023-08-12 |
Not clear |
| Aurélie Garchet-Beaudron, Sophie Dreux, Nathalie Leporrier, Jean-François Oury, Françoise Mulle. Second-trimester Down syndrome maternal serum marker screening: a prospective study of 11 040 twin pregnancies. Prenatal diagnosis. vol 28. issue 12. 2009-02-20. PMID:19003979. |
to analyze the value of down syndrome (ds) second-trimester maternal serum screening in large series of twin pregnancies. |
2009-02-20 |
2023-08-12 |
Not clear |
| Patrizia Vergani, Alessandro Ghidini, Steven Weiner, Anna Locatelli, Elisa Pozzi, Anna Biff. Risk assessment for Down syndrome with genetic sonogram in women at risk. Prenatal diagnosis. vol 28. issue 12. 2009-02-20. PMID:19006200. |
to evaluate the algorithms of risk assessment for down syndrome (ds). |
2009-02-20 |
2023-08-12 |
Not clear |
| Satu Kyttälä, Ivonne Habermann, Takashi Minami, Gerhard Ehninger, Alexander Kian. Regulation of Down Syndrome Critical Region 1 expression by Nuclear Factor of Activated T cells in megakaryocytes. British journal of haematology. vol 144. issue 3. 2009-02-20. PMID:19036088. |
megakaryocytic dysfunction can lead to neoplastic disorders, such as acute megakaryoblastic leukaemia, an entity with a 500-fold increased incidence in children with down syndrome (ds). |
2009-02-20 |
2023-08-12 |
Not clear |
| Satu Kyttälä, Ivonne Habermann, Takashi Minami, Gerhard Ehninger, Alexander Kian. Regulation of Down Syndrome Critical Region 1 expression by Nuclear Factor of Activated T cells in megakaryocytes. British journal of haematology. vol 144. issue 3. 2009-02-20. PMID:19036088. |
down syndrome critical region 1 (dscr1), a member of the calcipressin family of calcineurin inhibitors, is overexpressed in ds, and destabilization of the calcineurin/nuclear factor of activated t cells (nfat) pathway by overexpression of dscr1 has been implicated in some of the pathophysiological features of the disease. |
2009-02-20 |
2023-08-12 |
Not clear |
| Lyndal Kearney, David Gonzalez De Castro, Jenny Yeung, Julia Procter, Sharon W Horsley, Minenori Eguchi-Ishimae, Caroline M Bateman, Kristina Anderson, Tracy Chaplin, Bryan D Young, Christine J Harrison, Helena Kempski, Chi Wai E So, Anthony M Ford, Mel Greave. Specific JAK2 mutation (JAK2R683) and multiple gene deletions in Down syndrome acute lymphoblastic leukemia. Blood. vol 113. issue 3. 2009-02-17. PMID:18927438. |
children with down syndrome (ds) have a greatly increased risk of acute megakaryoblastic leukemia (amkl) and acute lymphoblastic leukemia (all). |
2009-02-17 |
2023-08-12 |
Not clear |
| Marcia R Amorim, Crisiane Wais Zanrosso, Isis Q Magalhães, Simone C Pereira, Alexandre Figueiredo, Mariana Emerenciano, Vitoria Regia Pinheiro, Maria Lydia d'Andréa, Ieda M Orioli, Sergio Koifman, Maria S Pombo-de-Oliveir. MTHFR 677C-->T and 1298A-->C polymorphisms in children with Down syndrome and acute myeloid leukemia in Brazil. Pediatric hematology and oncology. vol 25. issue 8. 2009-02-17. PMID:19065440. |
down syndrome (ds) is an important risk factor associated with acute leukemia (al). |
2009-02-17 |
2023-08-12 |
Not clear |
| Karen Bonde Larsen, Henning Laursen, Niels Graem, Grethe Badsberg Samuelsen, Nenad Bogdanovic, Bente Pakkenber. Reduced cell number in the neocortical part of the human fetal brain in Down syndrome. Annals of anatomy = Anatomischer Anzeiger : official organ of the Anatomische Gesellschaft. vol 190. issue 5. 2009-02-13. PMID:18722098. |
mental retardation is seen in all individuals with down syndrome (ds) and different brain abnormalities are reported. |
2009-02-13 |
2023-08-12 |
human |
| D S Sulemanji, A Donmez, E A Akpek, Y Ali. Vascular catheterization is difficult in infants with Down syndrome. Acta anaesthesiologica Scandinavica. vol 53. issue 1. 2009-02-12. PMID:19032563. |
our aim was to compare difficulties in vascular access interventions in infants with and without down syndrome (ds) undergoing congenital heart surgery. |
2009-02-12 |
2023-08-12 |
Not clear |
| Yong Yu, Po-Yin Chu, David N Bowser, Damien J Keating, Daphne Dubach, Ian Harper, Josephine Tkalcevic, David I Finkelstein, Melanie A Pritchar. Mice deficient for the chromosome 21 ortholog Itsn1 exhibit vesicle-trafficking abnormalities. Human molecular genetics. vol 17. issue 21. 2009-02-10. PMID:18676989. |
enlarged early endosomes in the neurons of young down syndrome (ds) and pre-alzheimer's disease (ad) brains suggest that a disturbance in endocytosis is one of the earliest hallmarks of ad pathogenesis in both conditions. |
2009-02-10 |
2023-08-12 |
mouse |
| Jeroen Wouters, Michel E Weijerman, A Marceline van Furth, Marco W J Schreurs, J Bart A Crusius, B Mary E von Blomberg, Laura R de Baaij, Chantal J M Broers, Reinoud J B J Gemk. Prospective human leukocyte antigen, endomysium immunoglobulin A antibodies, and transglutaminase antibodies testing for celiac disease in children with Down syndrome. The Journal of pediatrics. vol 154. issue 2. 2009-02-10. PMID:18822429. |
to assess the effect of a prospective screening strategy for the early diagnosis of celiac disease (cd) in children with down syndrome (ds). |
2009-02-10 |
2023-08-12 |
human |
| Pavel V Belichenko, Alexander M Kleschevnikov, Eliezer Masliah, Chengbiao Wu, Ryoko Takimoto-Kimura, Ahmad Salehi, William C Moble. Excitatory-inhibitory relationship in the fascia dentata in the Ts65Dn mouse model of Down syndrome. The Journal of comparative neurology. vol 512. issue 4. 2009-02-09. PMID:19034952. |
down syndrome (ds) is a neurological disorder causing impaired learning and memory. |
2009-02-09 |
2023-08-12 |
mouse |
| Julie-Anne Little, J Margaret Woodhouse, Jan S Lauritzen, Kathryn J Saunder. Vernier acuity in Down syndrome. Investigative ophthalmology & visual science. vol 50. issue 2. 2009-02-06. PMID:18824732. |
down syndrome (ds) is associated with reduced visual performance. |
2009-02-06 |
2023-08-12 |
Not clear |
| T Toki, R Kanezaki, S Adachi, H Fujino, G Xu, T Sato, K Suzuki, H Tauchi, M Endo, E It. The key role of stem cell factor/KIT signaling in the proliferation of blast cells from Down syndrome-related leukemia. Leukemia. vol 23. issue 1. 2009-02-06. PMID:18830255. |
transient leukemia (tl) has been observed in approximately 10% of newborn infants with down syndrome (ds). |
2009-02-06 |
2023-08-12 |
Not clear |
| C B Santos-Rebouças, J C Corrêa, A Bonomo, N Fintelman-Rodrigues, K C V Moura, C S C Rodrigues, J M Santos, M M G Pimente. The impact of folate pathway polymorphisms combined to nutritional deficiency as a maternal predisposition factor for Down syndrome. Disease markers. vol 25. issue 3. 2009-02-04. PMID:19096127. |
with the purpose of evaluating this relationship, we compared the frequencies of 677c>t and 1298a>c polymorphisms in the methylenetetrahydrofolate reductase gene (mthfr) and 66a>g in the methionine synthase reductase gene (mtrr) between 103 young mothers of down syndrome (ds) individuals and 108 control mothers, whose offspring was karyotypically normal, correlating it with an estimative of folate and - related micronutrients levels intake. |
2009-02-04 |
2023-08-12 |
Not clear |
| G M Savva, J K Morri. Ascertainment and accuracy of Down syndrome cases reported in congenital anomaly registers in England and Wales. Archives of disease in childhood. Fetal and neonatal edition. vol 94. issue 1. 2009-02-03. PMID:18375610. |
we estimate the ascertainment and accuracy of records of down syndrome (ds) on national and regional registers in england and wales. |
2009-02-03 |
2023-08-12 |
Not clear |