| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Gary E Martin, Molly Losh, Bruno Estigarribia, John Sideris, Joanne Robert. Longitudinal profiles of expressive vocabulary, syntax and pragmatic language in boys with fragile X syndrome or Down syndrome. International journal of language & communication disorders. vol 48. issue 4. 2014-03-11. PMID:23889838. |
fragile x syndrome (fxs) and down syndrome (ds) are the two leading genetic causes of intellectual disability, and fxs is the most common known genetic condition associated with autism. |
2014-03-11 |
2023-08-12 |
Not clear |
| Aurore Thomazeau, Olivier Lassalle, Jillian Iafrati, Benoit Souchet, Fayçal Guedj, Nathalie Janel, Pascale Chavis, Jean Delabar, Olivier J Manzon. Prefrontal deficits in a murine model overexpressing the down syndrome candidate gene dyrk1a. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 34. issue 4. 2014-03-11. PMID:24453307. |
dyrk1a localizes in the down syndrome (ds) critical region of chromosome 21q22.2 and is a major candidate for the behavioral and neuronal abnormalities associated with ds. |
2014-03-11 |
2023-08-12 |
mouse |
| L Angelova, V Gadancheva, D Konstantinova, M Stoianova, M Hachmerian, B Yakov, I Kremensk. [Maternal biochemical screening -- an approach for genetic prevention. part 1. first and second trimester screening]. Akusherstvo i ginekologiia. vol 52. issue 5. 2014-03-11. PMID:24501862. |
the aim is to perform our eight-year experience on prenatal (matemal) screening for down syndrome (ds). |
2014-03-11 |
2023-08-12 |
Not clear |
| Mukti Sharma, Sanjeev Khera, Vishal Sondhi, Amit Devga. A study to determine the prevalence of pulmonary arterial hypertension in children with Down syndrome and congenital heart disease. Medical journal, Armed Forces India. vol 69. issue 3. 2014-03-06. PMID:24600117. |
down syndrome (ds) is a common chromosomal abnormality associated with congenital heart disease (chd). |
2014-03-06 |
2023-08-12 |
Not clear |
| Barbara Cisterna, Manuela Costanzo, Elda Scherini, Carlo Zancanaro, Manuela Malatest. Ultrastructural features of skeletal muscle in adult and aging Ts65Dn mice, a murine model of Down syndrome. Muscles, ligaments and tendons journal. vol 3. issue 4. 2014-03-05. PMID:24596692. |
patients with down syndrome (ds) suffer from muscle hypotonia and an altered motor coordination whose basic mechanisms are still largely unknown. |
2014-03-05 |
2023-08-12 |
mouse |
| Marcelo Aguiar Costa-Lima, Márcia Rodrigues Amorim, Iêda Maria Oriol. Association of methylenetetrahydrofolate reductase gene 677C > T polymorphism and Down syndrome. Molecular biology reports. vol 40. issue 3. 2014-03-03. PMID:23184006. |
the association between down syndrome (ds) and maternal polymorphisms in genes encoding folic acid metabolizing enzymes remains a controversial issue. |
2014-03-03 |
2023-08-12 |
Not clear |
| Weizhi Zhang, Yifeng Yang, Can Huang, Tianli Zha. [Impact of Down syndrome on the surgical treatment of congenital heart defects]. Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences. vol 37. issue 7. 2014-02-27. PMID:22886226. |
to evaluate the impact of down syndrome (ds) on surgical management in patients with congenital heart defects (chd). |
2014-02-27 |
2023-08-12 |
Not clear |
| Lucas J Sosa, Nienke L Postma, Adriana Estrada-Bernal, M Hanna, R Guo, Jorge Busciglio, Karl H Pfenninge. Dosage of amyloid precursor protein affects axonal contact guidance in Down syndrome. FASEB journal : official publication of the Federation of American Societies for Experimental Biology. vol 28. issue 1. 2014-02-26. PMID:24036883. |
we show here that axonal gcs of human fetal down syndrome (ds) neurons (and of a ds mouse model) overexpress app protein relative to euploid controls. |
2014-02-26 |
2023-08-12 |
mouse |
| Márcia R Amorim, Cláudia M Moura, Aline D Gomes, Hazel N Barboza, Roberta B Lopes, Márcia G Ribeiro, Marcelo A Costa Lim. Betaine-homocysteine methyltransferase 742G>A polymorphism and risk of down syndrome offspring in a Brazilian population. Molecular biology reports. vol 40. issue 8. 2014-02-25. PMID:23645037. |
down syndrome (ds) is the most common form of mental retardation of genetic etiology. |
2014-02-25 |
2023-08-12 |
Not clear |
| Tetsuko Kobayashi, Yoshihiro Sakemi, Hironori Yamashit. Increased incidence of retroperitoneal teratomas and decreased incidence of sacrococcygeal teratomas in infants with Down syndrome. Pediatric blood & cancer. vol 61. issue 2. 2014-02-25. PMID:23904199. |
individuals with down syndrome (ds) have a unique profile of neoplasms, with a higher incidence of leukemias and a lower incidence of solid tumors than seen in the general population. |
2014-02-25 |
2023-08-12 |
Not clear |
| Trudy D Buitenkamp, Shai Izraeli, Martin Zimmermann, Erik Forestier, Nyla A Heerema, Marry M van den Heuvel-Eibrink, Rob Pieters, Carin M Korbijn, Lewis B Silverman, Kjeld Schmiegelow, Der-Cheng Liang, Keizo Horibe, Maurizio Arico, Andrea Biondi, Giuseppe Basso, Karin R Rabin, Martin Schrappe, Gunnar Cario, Georg Mann, Maria Morak, Renate Panzer-Grümayer, Veerle Mondelaers, Tim Lammens, Hélène Cavé, Batia Stark, Ithamar Ganmore, Anthony V Moorman, Ajay Vora, Stephen P Hunger, Ching-Hon Pui, Charles G Mullighan, Atsushi Manabe, Gabriele Escherich, Jerzy R Kowalczyk, James A Whitlock, C Michel Zwaa. Acute lymphoblastic leukemia in children with Down syndrome: a retrospective analysis from the Ponte di Legno study group. Blood. vol 123. issue 1. 2014-02-24. PMID:24222333. |
children with down syndrome (ds) have an increased risk of b-cell precursor (bcp) acute lymphoblastic leukemia (all). |
2014-02-24 |
2023-08-12 |
Not clear |
| Jo Moss, Caroline Richards, Lisa Nelson, Chris Olive. Prevalence of autism spectrum disorder symptomatology and related behavioural characteristics in individuals with Down syndrome. Autism : the international journal of research and practice. vol 17. issue 4. 2014-02-19. PMID:22589453. |
we evaluated the proportion of individuals with down syndrome (ds: n = 108) who met criteria for autism spectrum disorder (asd) on the social communication questionnaire and the severity of asd-related symptomatology in this group. |
2014-02-19 |
2023-08-12 |
Not clear |
| Patrizia Bianchi, Simone Bettini, Sandra Guidi, Elisabetta Ciani, Stefania Trazzi, Fiorenza Stagni, Elena Ragazzi, Valeria Franceschini, Renata Bartesagh. Age-related impairment of olfactory bulb neurogenesis in the Ts65Dn mouse model of Down syndrome. Experimental neurology. vol 251. 2014-02-19. PMID:24192151. |
down syndrome (ds) is a genetic condition caused by triplication of chromosome 21. |
2014-02-19 |
2023-08-12 |
mouse |
| Katherine R Martin, Daniel Layton, Natalie Seach, Alicia Corlett, Maria Jose Barallobre, Maria L Arbonés, Richard L Boyd, Bernadette Scott, Melanie A Pritchar. Upregulation of RCAN1 causes Down syndrome-like immune dysfunction. Journal of medical genetics. vol 50. issue 7. 2014-02-14. PMID:23644448. |
people with down syndrome (ds) are more susceptible to infections and autoimmune disease, but the molecular genetic basis for these immune defects remains undetermined. |
2014-02-14 |
2023-08-12 |
Not clear |
| Amir Akhavan Rezayat, Mohammad Hassanzadeh Nazarabadi, Mohammad Sobhan Sheikh Andalibi, Hossein Mohaddes Ardabili, Maryam Shokri, Salmeh Mirzaie, Lida Jarah. Down syndrome and consanguinity. Journal of research in medical sciences : the official journal of Isfahan University of Medical Sciences. vol 18. issue 11. 2014-02-13. PMID:24523787. |
among the genetics disorders, down syndrome (ds) is the major cause of mental retardation, congenital heart and intestinal disease. |
2014-02-13 |
2023-08-12 |
Not clear |
| Courtney A Wright, Ann P Kaiser, Dawn I Reikowsky, Megan Y Robert. Effects of a naturalistic sign intervention on expressive language of toddlers with Down syndrome. Journal of speech, language, and hearing research : JSLHR. vol 56. issue 3. 2014-02-11. PMID:23275419. |
in this study, the authors evaluated the effects of enhanced milieu teaching (emt; hancock & kaiser, 2006) blended with joint attention, symbolic play, and emotional regulation (jasper; kasari, freeman, & paparella, 2006) to teach spoken words and manual signs (words + signs) to young children with down syndrome (ds). |
2014-02-11 |
2023-08-12 |
Not clear |
| Mika Ohno, Aaron Caughe. The role of noninvasive prenatal testing as a diagnostic versus a screening tool--a cost-effectiveness analysis. Prenatal diagnosis. vol 33. issue 7. 2014-02-11. PMID:23674316. |
as the sensitivity and specificity of noninvasive prenatal testing (nipt) that uses cell-free fetal dna in maternal serum to identify down syndrome (ds) in utero improves, nipt could be considered a diagnostic test, thus avoiding the complications of chorionic villus sampling or amniocentesis. |
2014-02-11 |
2023-08-12 |
Not clear |
| Hyunkyung Choi, Marcia Van Ripe. Siblings of children with Down syndrome: an integrative review. MCN. The American journal of maternal child nursing. vol 38. issue 2. 2014-02-10. PMID:23426048. |
the purpose of this review was to understand the experience of siblings living with a child with down syndrome (ds) and to identify factors influencing siblings' adaptation. |
2014-02-10 |
2023-08-12 |
Not clear |
| Irene Roberts, Kate Alford, Georgina Hall, Gaetan Juban, Helen Richmond, Alice Norton, Grant Vallance, Kelly Perkins, Emanuele Marchi, Simon McGowan, Anindita Roy, Gillian Cowan, Mark Anthony, Amit Gupta, John Ho, Sabita Uthaya, Anna Curley, Shree Vishna Rasiah, Timothy Watts, Richard Nicholl, Alison Bedford-Russell, Raoul Blumberg, Angela Thomas, Brenda Gibson, Chris Halsey, Pek-Wan Lee, Sunit Godambe, Connor Sweeney, Neha Bhatnagar, Anne Goriely, Peter Campbell, Paresh Vya. GATA1-mutant clones are frequent and often unsuspected in babies with Down syndrome: identification of a population at risk of leukemia. Blood. vol 122. issue 24. 2014-02-10. PMID:24021668. |
transient abnormal myelopoiesis (tam), a preleukemic disorder unique to neonates with down syndrome (ds), may transform to childhood acute myeloid leukemia (ml-ds). |
2014-02-10 |
2023-08-12 |
Not clear |
| Anupam Kaur, Amandeep Kau. Prevalence of methylenetetrahydrofolate reductase 677 C-T polymorphism among mothers of Down syndrome children. Indian journal of human genetics. vol 19. issue 4. 2014-02-05. PMID:24497705. |
in this study, we examined the polymorphism in the gene encoding the folate metabolizing enzyme methylenetetrahydrofolate reductase (mthfr), namely, 677 c-t in women having down syndrome (ds) children. |
2014-02-05 |
2023-08-12 |
Not clear |