Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
Ken C Lo, Jane Chalker, Sabine Strehl, Michael Neat, Owen Smith, Nicole Dastugue, Lyndal Kearney, Shai Izraeli, Helena Kempski, John K Cowel. Array comparative genome hybridization analysis of acute lymphoblastic leukaemia and acute megakaryoblastic leukaemia in patients with Down syndrome. British journal of haematology. vol 142. issue 6. 2008-12-11. PMID:18557744. |
twenty-five cases of b-cell precursor acute lymphoblastic leukaemia (all) from down syndrome (ds) patients were analyzed using array comparative genomic hybridization (acgh) and compared with two other subgroups of non-ds patients with all; five cases with high-hyperdiploidy (hh) and nine cases with etv6-runx1 positive clones. |
2008-12-11 |
2023-08-12 |
Not clear |
Jerzy Wegiel, Karol Dowjat, Wojciech Kaczmarski, Izabela Kuchna, Krzysztof Nowicki, Janusz Frackowiak, Bozena Mazur Kolecka, Jarek Wegiel, Wayne P Silverman, Barry Reisberg, Mony Deleon, Thomas Wisniewski, Cheng-Xin Gong, Fei Liu, Tatyana Adayev, Mo-Chou Chen-Hwang, Yu-Wen Hwan. The role of overexpressed DYRK1A protein in the early onset of neurofibrillary degeneration in Down syndrome. Acta neuropathologica. vol 116. issue 4. 2008-12-09. PMID:18696092. |
the gene encoding the minibrain kinase/dual-specificity tyrosine phosphorylated and regulated kinase 1a (dyrk1a) is located in the down syndrome (ds) critical region of chromosome 21. |
2008-12-09 |
2023-08-12 |
human |
Samuel R Browd, J Steele McIntyre, Douglas Brockmeye. Failed age-dependent maturation of the occipital condyle in patients with congenital occipitoatlantal instability and Down syndrome: a preliminary analysis. Journal of neurosurgery. Pediatrics. vol 2. issue 5. 2008-12-02. PMID:18976108. |
the second objective of the study was to compare these data with measurements collected in patients with congenital occipitoatlantal instability (coi) or down syndrome (ds). |
2008-12-02 |
2023-08-12 |
Not clear |
Jianhua Shi, Tianyi Zhang, Chunlei Zhou, Muhammad Omar Chohan, Xiaosong Gu, Jerzy Wegiel, Jianhua Zhou, Yu-Wen Hwang, Khalid Iqbal, Inge Grundke-Iqbal, Cheng-Xin Gong, Fei Li. Increased dosage of Dyrk1A alters alternative splicing factor (ASF)-regulated alternative splicing of tau in Down syndrome. The Journal of biological chemistry. vol 283. issue 42. 2008-11-25. PMID:18658135. |
very early in their life, individuals with down syndrome (ds) develop alzheimer-type tau pathology, the molecular basis for which is not fully understood. |
2008-11-25 |
2023-08-12 |
human |
Sébastien Malinge, Christine Ragu, Veronique Della-Valle, Didier Pisani, Stefan N Constantinescu, Christelle Perez, Jean-Luc Villeval, Dirk Reinhardt, Judith Landman-Parker, Lucienne Michaux, Nicole Dastugue, André Baruchel, William Vainchenker, Jean-Pierre Bourquin, Virginie Penard-Lacronique, Olivier A Bernar. Activating mutations in human acute megakaryoblastic leukemia. Blood. vol 112. issue 10. 2008-11-25. PMID:18755984. |
in a series of human amkl samples from both down syndrome and non-down syndrome patients, mutations were identified within kit, flt3, jak2, jak3, and mpl genes, with a higher frequency in ds than in non-ds patients. |
2008-11-25 |
2023-08-12 |
mouse |
Nataly Apollonsky, Ashok Shende, Ihsane Ouansafi, Judith Brody, Mark Atlas, Banu Aygu. Transient myeloproliferative disorder in neonates with and without Down syndrome: a tale of 2 syndromes. Journal of pediatric hematology/oncology. vol 30. issue 11. 2008-11-25. PMID:18989165. |
transient myeloproliferative disorder (tmd) in newborns with down syndrome (ds) has been well described. |
2008-11-25 |
2023-08-12 |
Not clear |
Hannah M Nash, Margaret J Snowlin. Semantic and phonological fluency in children with Down syndrome: atypical organization of language or less efficient retrieval strategies? Cognitive neuropsychology. vol 25. issue 5. 2008-11-18. PMID:18642139. |
in this study the verbal fluency procedure was used to investigate the organization of semantic and phonological representations in children with down syndrome (ds) and typically developing children, matched pairwise for receptive vocabulary age. |
2008-11-18 |
2023-08-12 |
Not clear |
Sharath Asokan, M S Muthu, N Sivakuma. Oral findings of Down syndrome children in Chennai city, India. Indian journal of dental research : official publication of Indian Society for Dental Research. vol 19. issue 3. 2008-11-18. PMID:18797100. |
to assess the common oral findings and anomalies of down syndrome (ds) children in chennai city, india. |
2008-11-18 |
2023-08-12 |
Not clear |
Jon Ortiz-Abalia, Ignasi Sahún, Xavier Altafaj, Núria Andreu, Xavier Estivill, Mara Dierssen, Cristina Filla. Targeting Dyrk1A with AAVshRNA attenuates motor alterations in TgDyrk1A, a mouse model of Down syndrome. American journal of human genetics. vol 83. issue 4. 2008-11-18. PMID:18940310. |
genetic-dissection studies carried out with down syndrome (ds) murine models point to the critical contribution of dyrk1a overexpression to the motor abnormalities and cognitive deficits displayed in ds individuals. |
2008-11-18 |
2023-08-12 |
mouse |
K T Lakshmi, R H Surekha, B Srikanth, A Jyoth. Serum cholinesterases in Down syndrome children before and after nutritional supplementation. Singapore medical journal. vol 49. issue 7. 2008-11-14. PMID:18695865. |
down syndrome (ds) children have different degrees of developmental abnormalities associated with mental retardation. |
2008-11-14 |
2023-08-12 |
Not clear |
Edmund C Jenkins, Lingling Ye, Hong Gu, Samantha A Ni, Charlotte J Duncan, Milen Velinov, Deborah Pang, Sharon J Krinsky-McHale, Warren B Zigman, Nicole Schupf, Wayne P Silverma. Increased "absence" of telomeres may indicate Alzheimer's disease/dementia status in older individuals with Down syndrome. Neuroscience letters. vol 440. issue 3. 2008-11-05. PMID:18571319. |
we have reported previously that telomeres (ends of chromosomes consisting of highly conserved ttaggg repeats) were shorter in metaphase and interphase preparations in t lymphocytes from short-term whole blood cultures of women with down syndrome (ds) and dementia compared to age-matched women with ds but without dementia [e.c. |
2008-11-05 |
2023-08-12 |
Not clear |
C A Sommer, F Henrique-Silv. Trisomy 21 and Down syndrome: a short review. Brazilian journal of biology = Revista brasleira de biologia. vol 68. issue 2. 2008-11-04. PMID:18660978. |
even though the molecular mechanisms underlying the down syndrome (ds) phenotypes remain obscure, the characterization of the genes and conserved non-genic sequences of hsa21 together with large-scale gene expression studies in ds tissues are enhancing our understanding of this complex disorder. |
2008-11-04 |
2023-08-12 |
mouse |
Paula Hedley, Michael Christianse. Serum leptin in first-trimester Down syndrome pregnancies. Prenatal diagnosis. vol 28. issue 6. 2008-10-23. PMID:18437707. |
as a placenta protein, leptin serum concentrations may be perturbed in down syndrome (ds) pregnancies as seen for pregnancy-associated plasma protein-a (papp-a) and human chorionic gonadotrophin-beta (hcgbeta). |
2008-10-23 |
2023-08-12 |
human |
Claudia Canzonetta, Claire Mulligan, Samuel Deutsch, Sandra Ruf, Aideen O'Doherty, Robert Lyle, Christelle Borel, Nathalie Lin-Marq, Frederic Delom, Jürgen Groet, Felix Schnappauf, Serena De Vita, Sharon Averill, John V Priestley, Joanne E Martin, Janet Shipley, Gareth Denyer, Charles J Epstein, Cristina Fillat, Xavier Estivill, Victor L J Tybulewicz, Elizabeth M C Fisher, Stylianos E Antonarakis, Dean Nizeti. DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome. American journal of human genetics. vol 83. issue 3. 2008-10-20. PMID:18771760. |
down syndrome (ds) is the most common cause of mental retardation. |
2008-10-20 |
2023-08-12 |
mouse |
Daniel Satgé, Jean Bénar. Carcinogenesis in Down syndrome: what can be learned from trisomy 21? Seminars in cancer biology. vol 18. issue 5. 2008-10-13. PMID:18455928. |
for instance, evidence gathered from down syndrome (ds) individuals has challenged the above perceived explanation since somatic mutations in these patients markedly differ from those arisen in the general population, and do not seem to occur at random. |
2008-10-13 |
2023-08-12 |
Not clear |
M S Cheon, M Dierssen, S H Kim, G Lube. Protein expression of BACE1, BACE2 and APP in Down syndrome brains. Amino acids. vol 35. issue 2. 2008-10-09. PMID:18163181. |
down syndrome (ds) is the most common human chromosomal abnormality caused by an extra copy of chromosome 21. |
2008-10-09 |
2023-08-12 |
human |
Tamás Ságh. [Periodontal changes in Down syndrome. A literature review]. Fogorvosi szemle. vol 101. issue 3. 2008-10-03. PMID:18756847. |
the down syndrome (further on as ds) is one of the most studied autosomal chromosomal aberrations. |
2008-10-03 |
2023-08-12 |
Not clear |
Aggeliki Kolialexi, George Th Tsangaris, Nikos Papantoniou, Athanasios K Anagnostopoulos, Kostantinos Vougas, Vassilis Bagiokos, Aris Antsaklis, Ariadni Mavro. Application of proteomics for the identification of differentially expressed protein markers for Down syndrome in maternal plasma. Prenatal diagnosis. vol 28. issue 8. 2008-10-02. PMID:18551720. |
despite the large impact of ultrasonographic and biochemical markers on prenatal screening, the ability to accurately diagnose down syndrome (ds) is still limited and better diagnostic testing is needed. |
2008-10-02 |
2023-08-12 |
Not clear |
Deepthi C de Silva, P Jayawardana, A Hapangama, E G D N Suraweera, D Ranjani, S Fernando, C Karunasena, S Jinadas. Attitudes toward prenatal diagnosis and termination of pregnancy for genetic disorders among healthcare workers in a selected setting in Sri Lanka. Prenatal diagnosis. vol 28. issue 8. 2008-10-02. PMID:18561288. |
assess attitudes toward prenatal diagnosis (pnd) and termination of pregnancy (top) for down syndrome (ds), hemophilia, lethal autosomal recessive disorder (lrd) and a hypothetical late-onset neurodegenerative disorder (ndd) among healthcare workers in one sri lankan district. |
2008-10-02 |
2023-08-12 |
Not clear |
Sophie Dreux, Camille Olivier, Jean-Michel Dupont, Nathalie Leporrier, Jean-François Oury, Françoise Mulle. Maternal serum screening in cases of mosaic and translocation Down syndrome. Prenatal diagnosis. vol 28. issue 8. 2008-10-02. PMID:18615544. |
to determine if the second-trimester maternal serum markers (msm) screening for down syndrome (ds) is efficient in ds mosaicism or structural rearrangement cases. |
2008-10-02 |
2023-08-12 |
Not clear |