| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| A S P van Trotsenburg, T Vulsma, H M van Santen, W Cheung, J J M de Vijlde. Lower neonatal screening thyroxine concentrations in down syndrome newborns. The Journal of clinical endocrinology and metabolism. vol 88. issue 4. 2003-05-09. PMID:12679431. |
there is an unexplained higher incidence of congenital hypothyroidism (ch) detected by t(4)-based neonatal screening programs and a very high prevalence of (mild) plasma tsh elevation in young children with down syndrome (ds). |
2003-05-09 |
2023-08-12 |
Not clear |
| G Hedov, K Wikblad, G Anneré. First information and support provided to parents of children with Down syndrome in Sweden: clinical goals and parental experiences. Acta paediatrica (Oslo, Norway : 1992). vol 91. issue 12. 2003-05-06. PMID:12578293. |
when parents are informed that their newborn child has down syndrome (ds), they often respond with a traumatic crisis reaction. |
2003-05-06 |
2023-08-12 |
Not clear |
| Heather A Bimonte-Nelson, Christopher L Hunter, Matthew E Nelson, Ann-Charlotte E Granhol. Frontal cortex BDNF levels correlate with working memory in an animal model of Down syndrome. Behavioural brain research. vol 139. issue 1-2. 2003-05-02. PMID:12642175. |
individuals with down syndrome (ds) develop most neuropathological hallmarks of alzheimer's disease early in life, including loss of cholinergic markers in the basal forebrain. |
2003-05-02 |
2023-08-12 |
mouse |
| Laura Brunelli das Neves Grillo, Gregório Lorenzo Acácio, Ricardo Barini, Walter Pinto, Carmen Silvia Bertuzz. [Mutations in the methylene-tetrahydrofolate reductase gene and Down syndrome]. Cadernos de saude publica. vol 18. issue 6. 2003-05-01. PMID:12488908. |
down syndrome (ds) is a complex genetic and metabolic disorder attributed to the presence of three copies of chromosome 21. |
2003-05-01 |
2023-08-12 |
Not clear |
| Z Iliyasu, W H Gilmour, D H Ston. Prevalence of Down syndrome in Glasgow, 1980-96--the growing impact of prenatal diagnosis on younger mothers. Health bulletin. vol 60. issue 1. 2003-04-30. PMID:12664764. |
to assess the impact of improved methods of prenatal diagnosis on the prevalence of down syndrome (ds). |
2003-04-30 |
2023-08-12 |
Not clear |
| N V Kovalev. [Sex ratio in Down syndrome]. TSitologiia i genetika. vol 36. issue 6. 2003-04-24. PMID:12557485. |
ratio between male and female cases of down syndrome (ds), are presented. |
2003-04-24 |
2023-08-12 |
Not clear |
| Ann-Charlotte E Granholm, Kerstin A Ford, Lynn A Hyde, Heather A Bimonte, Christopher L Hunter, Matt Nelson, David Albeck, Linda A Sanders, Elliott J Mufson, Linda S Crni. Estrogen restores cognition and cholinergic phenotype in an animal model of Down syndrome. Physiology & behavior. vol 77. issue 2-3. 2003-04-18. PMID:12419414. |
we provide evidence to support this hypothesis in an animal model of down syndrome (ds), a chromosome 16 segmental trisomy (ts65dn) mouse. |
2003-04-18 |
2023-08-12 |
mouse |
| Jayesh J Sheth, Frenny J Shet. Gene polymorphism and folate metabolism: a maternal risk factor for Down syndrome. Indian pediatrics. vol 40. issue 2. 2003-04-03. PMID:12626825. |
the high birth frequency of down syndrome (ds), trisomy 21 (t21), has been a subject of interest to the clinicians and researchers due to its complexity in phenotypic expression. |
2003-04-03 |
2023-08-12 |
human |
| Deirdre A Hill, Gloria Gridley, Sven Cnattingius, Lene Mellemkjaer, Martha Linet, Hans-Olof Adami, Jorgen H Olsen, Olof Nyren, Joseph F Fraumen. Mortality and cancer incidence among individuals with Down syndrome. Archives of internal medicine. vol 163. issue 6. 2003-04-02. PMID:12639204. |
individuals with down syndrome (ds) have a predisposition to leukemia and possibly other cancers and excess mortality from other conditions, but information on the magnitude of risk associated with specific cancers or causes of death is sparse. |
2003-04-02 |
2023-08-12 |
Not clear |
| D Natsopoulo, C Christou, M Koutselini, A Raftopoulos, C Karefillido. Structure and coherence of reasoning ability in Down Syndrome adults and typically developing children. Research in developmental disabilities. vol 23. issue 4. 2003-03-19. PMID:12365854. |
the present study investigates the ability of down syndrome (ds) adults to reason: (a) deductively with transitivity (linear and reverse relations) and categorical syllogisms (all-some relations); (b) inductively with classical verbal analogies and non-verbal analogical reasoning (raven's coloured progressive matrices); and (c) to retain information in short-term memory. |
2003-03-19 |
2023-08-12 |
Not clear |
| Susanne Greber-Platzer, Christine Fleischmann, Christa Nussbaumer, Nigel Cairns, Gert Lube. Increased RNA levels of the 25 kDa synaptosomal associated protein in brain samples of adult patients with Down Syndrome. Neuroscience letters. vol 336. issue 2. 2003-03-18. PMID:12499044. |
in a previous paper we have shown reduced amounts of snap-25 protein in adult down syndrome (ds) brain. |
2003-03-18 |
2023-08-12 |
Not clear |
| Sue Ann Berend, Scott L Page, William Atkinson, Christopher McCaskill, Neil E Lamb, Stephanie L Sherman, Lisa G Shaffe. Obligate short-arm exchange in de novo Robertsonian translocation formation influences placement of crossovers in chromosome 21 nondisjunction. American journal of human genetics. vol 72. issue 2. 2003-03-18. PMID:12506337. |
robertsonian translocations (robs) involving chromosome 21 are found in approximately 5% of patients with down syndrome (ds). |
2003-03-18 |
2023-08-12 |
Not clear |
| Gert Lubec, Ephrem Engidawor. The brain in Down syndrome (TRISOMY 21). Journal of neurology. vol 249. issue 10. 2003-03-17. PMID:12382149. |
down syndrome (ds) is the most common genetic birth defect associated with mental retardation. |
2003-03-17 |
2023-08-12 |
Not clear |
| Yubin Ge, Tanya L Jensen, Larry H Matherly, Jeffrey W Tau. Transcriptional regulation of the cystathionine-beta -synthase gene in Down syndrome and non-Down syndrome megakaryocytic leukemia cell lines. Blood. vol 101. issue 4. 2003-03-13. PMID:12393509. |
children with down syndrome (ds) with acute myeloid leukemia (aml) have significantly higher event-free survival rates compared to those with non-ds aml, linked to greater cytosine arabinoside (ara-c) sensitivity and higher transcript levels of the chromosome 21-localized gene, cystathionine-beta-synthase (cbs), in ds myeloblasts. |
2003-03-13 |
2023-08-12 |
Not clear |
| Murat Derbent, Arda Saygili, Zerrin Yilmaz, Mehmet Kervancioğlu, Sevim Balci, Kursat Toke. Co-occurrence of chromosome 22q11.2 microdeletion and trisomy 21 mosaicism. American journal of medical genetics. vol 112. issue 1. 2003-03-04. PMID:12239730. |
this report describes a patient who had some phenotypic features of down syndrome (ds) as well as severe conotruncal cardiac anomalies, including pulmonary atresia with ventricular septal defect (tetralogy of fallot with pulmonary atresia), confluent pulmonary arteries, a large left-sided ductus arteriosus, left aortic arch, aberrant right subclavian artery, and secundum atrial septal defect. |
2003-03-04 |
2023-08-12 |
Not clear |
| K Kearney, A M Gentil. Prehension in young children with Down syndrome. Acta psychologica. vol 112. issue 1. 2003-02-13. PMID:12423897. |
prehension was examined in 3-year old children with down syndrome (ds, n = 3) and in typically-developing children matched in chronological age (3-year olds; n = 3) or mental age and motor experience (2-year olds; n = 3). |
2003-02-13 |
2023-08-12 |
human |
| M Cengiz, M Seven, N Suyugü. Antioxidant system in Down syndrome: a possible role in cataractogenesis. Genetic counseling (Geneva, Switzerland). vol 13. issue 3. 2003-02-12. PMID:12416643. |
focal lens cortical changes and cortical liquification have been reported in patients with down syndrome (ds) over 14 years. |
2003-02-12 |
2023-08-12 |
Not clear |
| S Vicari, M C Caselli, C Gagliardi, F Tonucci, V Volterr. Language acquisition in special populations: a comparison between Down and Williams syndromes. Neuropsychologia. vol 40. issue 13. 2003-02-04. PMID:12417473. |
to investigate the relationship between language acquisition and cognition, we evaluated linguistic abilities in 12 italian-speaking children with williams syndrome (ws) and 12 with down syndrome (ds) of comparable global cognitive level. |
2003-02-04 |
2023-08-12 |
Not clear |
| Susanne G Kircher, Seong Hwan Kim, Michael Fountoulakis, Gert Lube. Reduced levels of DEAD-box proteins DBP-RB and p72 in fetal Down syndrome brains. Neurochemical research. vol 27. issue 10. 2003-01-27. PMID:12462412. |
down syndrome (ds) is characterized by abnormal brain morphology and neurological and behavioral functions. |
2003-01-27 |
2023-08-12 |
human |
| Mitsutaka Kadota, Yasuaki Shirayoshi, Mitsuo Oshimur. Elevated apoptosis in pre-mature neurons differentiated from mouse ES cells containing a single human chromosome 21. Biochemical and biophysical research communications. vol 299. issue 4. 2003-01-24. PMID:12459181. |
a decrease in the number and density of neurons is the most common phenotype in the brains of down syndrome (ds) patients, causing mental retardation. |
2003-01-24 |
2023-08-12 |
mouse |