| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Suganthi Rajasegaran, Nur Aini Ahmad, Shung Ken Tan, Abhirrami Lechmiannandan, Yew-Wei Tan, Anand Sanmugam, Srihari Singaravel, Shireen Anne Na. A multi-center cross-sectional comparison of parent-reported quality of life and bowel function between anorectal malformation and Hirschsprung's disease patients with versus those without Down syndrome. Pediatric surgery international. vol 40. issue 1. 2024-07-24. PMID:39046543. |
down syndrome (ds) is a common abnormality associated with anorectal malformation (arm) and hirschsprung's disease (hd). |
2024-07-24 |
2024-07-26 |
Not clear |
| Nandini Singh, Joan T Richtsmeier, Roger H Reeve. Comparative analysis of craniofacial shape in two mouse models of Down syndrome: Ts65Dn and TcMAC21. Journal of anatomy. 2024-01-24. PMID:38264931. |
mouse models are central to studying and understanding the genotypic-to-phenotypic outcomes of down syndrome (ds), a complex condition caused by an extra copy of the long arm of human chromosome 21. |
2024-01-24 |
2024-01-26 |
mouse |
| Howard Chung, Peter H R Green, Timothy C Wang, Xiao-Fei Kon. Interferon-Driven Immune Dysregulation in Down Syndrome: A Review of the Evidence. Journal of inflammation research. vol 14. 2021-11-09. PMID:34675597. |
down syndrome (ds) is a unique genetic disease caused by the presence of an extra copy of chromosome 21, which carries four of the six interferon receptor (ifn-r) genes on its long arm. |
2021-11-09 |
2023-08-13 |
Not clear |
| Md Mahiuddin Ahmed, Aaron Block, Nicolas Busquet, Katheleen J Gardine. Context Fear Conditioning in Down Syndrome Mouse Models: Effects of Trisomic Gene Content, Age, Sex and Genetic Background. Genes. vol 12. issue 10. 2021-10-26. PMID:34680922. |
down syndrome (ds), trisomy of the long arm of human chromosome 21 (hsa21), is the most common genetic cause of intellectual disability (id). |
2021-10-26 |
2023-08-13 |
mouse |
| Fabian Fernandez, Jamie O Edgi. Poor Sleep as a Precursor to Cognitive Decline in Down Syndrome : A Hypothesis. Journal of Alzheimer's disease & Parkinsonism. vol 3. issue 2. 2021-10-21. PMID:24558640. |
we propose that sleep disruption is a lever arm that influences how cognition emerges in development and then declines in response to alzheimer disease in people with down syndrome. |
2021-10-21 |
2023-08-12 |
Not clear |
| Yasuhiro Kazuki, Feng J Gao, Yicong Li, Anna J Moyer, Benjamin Devenney, Kei Hiramatsu, Sachiko Miyagawa-Tomita, Satoshi Abe, Kanako Kazuki, Naoyo Kajitani, Narumi Uno, Shoko Takehara, Masato Takiguchi, Miho Yamakawa, Atsushi Hasegawa, Ritsuko Shimizu, Satoko Matsukura, Naohiro Noda, Narumi Ogonuki, Kimiko Inoue, Shogo Matoba, Atsuo Ogura, Liliana D Florea, Alena Savonenko, Meifang Xiao, Dan Wu, Denise As Batista, Junhua Yang, Zhaozhu Qiu, Nandini Singh, Joan T Richtsmeier, Takashi Takeuchi, Mitsuo Oshimura, Roger H Reeve. A non-mosaic transchromosomic mouse model of down syndrome carrying the long arm of human chromosome 21. eLife. vol 9. 2021-04-16. PMID:32597754. |
a non-mosaic transchromosomic mouse model of down syndrome carrying the long arm of human chromosome 21. |
2021-04-16 |
2023-08-13 |
mouse |
| Anirban Ray, Tiffany Rene Oliver, Pinku Halder, Upamanyu Pal, Sumantra Sarkar, Supratim Dutta, Sujay Ghos. Risk of Down syndrome birth: Consanguineous marriage is associated with maternal meiosis-II nondisjunction at younger age and without any detectable recombination error. American journal of medical genetics. Part A. vol 176. issue 11. 2019-09-25. PMID:30240118. |
we genotyped down syndrome family trios using short tandem repeat markers on 21q-to interpret the parental and meiotic stage of origin of errors as well as to record recombination profile along long arm of chromosome 21. |
2019-09-25 |
2023-08-13 |
Not clear |
| Takahiro Hosokawa, Yoshitake Yamada, Mayumi Hsokawa, Shunsuke Kikuchi, Kenji Ohira, Yutaka Tanami, Yumiko Sato, Eiji Ogum. Ultrasound imaging of the anorectal malformation during the neonatal period: a comprehensive review. Japanese journal of radiology. vol 36. issue 10. 2018-12-17. PMID:30120703. |
we have described the pitfalls of ultrasound in diagnosis of cases, namely arm with down syndrome (which tends to be without fistula), arm with low birth weight, arm with unusual location of fistula, arm with opened fistula (where the p-p distance is unreliable), and cloacal malformation (variation of the high-type arm). |
2018-12-17 |
2023-08-13 |
Not clear |
| Thomas A Trikalinos, David C Hoaglin, Kevin M Small, Norma Terrin, Christopher H Schmi. Methods for the joint meta-analysis of multiple tests. Research synthesis methods. vol 5. issue 4. 2016-02-24. PMID:26052954. |
we demonstrate using a meta-analysis of screening for down syndrome with two tests: shortened humerus (arm bone), and shortened femur (thigh bone). |
2016-02-24 |
2023-08-13 |
human |
| S Yakut, C Sanhal, E Manguoglu, Z Ceti. Prenatal diagnosis of isochromosome 21p and isochromosome 21q in a fetus with Down syndrome. Genetic counseling (Geneva, Switzerland). vol 25. issue 3. 2014-12-11. PMID:25365847. |
the aim of this study was to present the first case with down syndrome in conjunction with de novo isochromosomes of both short and long arm of the chromosome 21. |
2014-12-11 |
2023-08-13 |
Not clear |
| J Busciglio, G Capone, J O'Bryan, J P O'Byran, K J Gardine. Down syndrome: genes, model systems, and progress towards pharmacotherapies and clinical trials for cognitive deficits. Cytogenetic and genome research. vol 141. issue 4. 2014-01-14. PMID:24008277. |
down syndrome (ds) is caused by an extra copy of all or part of the long arm of human chromosome 21 (hsa21). |
2014-01-14 |
2023-08-12 |
mouse |
| Sara Laura Vimercati, Manuela Galli, Chiara Rigoldi, Andrea Ancillao, Giorgio Albertin. Motor strategies and motor programs during an arm tapping task in adults with Down Syndrome. Experimental brain research. vol 225. issue 3. 2013-09-05. PMID:23274643. |
motor strategies and motor programs during an arm tapping task in adults with down syndrome. |
2013-09-05 |
2023-08-12 |
human |
| Inês Marques-Aleixo, Ana Querido, Pedro Figueiredo, João Paulo Vilas-Boas, Rui Corredeira, Daniel Daly, Ricardo J Fernande. Intracyclic velocity variation and arm coordination assessment in swimmers with Down syndrome. Adapted physical activity quarterly : APAQ. vol 30. issue 1. 2013-06-13. PMID:23283027. |
intracyclic velocity variation and arm coordination assessment in swimmers with down syndrome. |
2013-06-13 |
2023-08-12 |
Not clear |
| Inês Marques-Aleixo, Ana Querido, Pedro Figueiredo, João Paulo Vilas-Boas, Rui Corredeira, Daniel Daly, Ricardo J Fernande. Intracyclic velocity variation and arm coordination assessment in swimmers with Down syndrome. Adapted physical activity quarterly : APAQ. vol 30. issue 1. 2013-06-13. PMID:23283027. |
this study examined the differences in intracycle velocity variation and arm coordination in front crawl in swimmers with down syndrome in three breathing conditions. |
2013-06-13 |
2023-08-12 |
Not clear |
| Maryam Sedghi, Narges Nouri, Hossein Abdali, Mehrdad Memarzadeh, Nayereh Nour. A case report of 22q11 deletion syndrome confirmed by array-CGH method. Journal of research in medical sciences : the official journal of Isfahan University of Medical Sciences. vol 17. issue 3. 2012-12-26. PMID:23267387. |
velo-cardio-facial syndrome (vcfs) is caused by a submicroscopic deletion on the long arm of chromosome 22 and affects approximately 1 in 4000 persons, making it the second most prevalent genetic syndrome after down syndrome and the most common genetic syndrome associated with cleft palate. |
2012-12-26 |
2023-08-12 |
Not clear |
| Patricia L Crotwell, H Eugene Hoym. Advances in whole-genome genetic testing: from chromosomes to microarrays. Current problems in pediatric and adolescent health care. vol 42. issue 3. 2012-06-04. PMID:22325474. |
throughout the review, we present case stories to illustrate the familiar (down syndrome) and the new (a never-before reported microdeletion on the long arm of chromosome 12). |
2012-06-04 |
2023-08-12 |
Not clear |
| Xiaolu Sturgeon, Katheleen J Gardine. Transcript catalogs of human chromosome 21 and orthologous chimpanzee and mouse regions. Mammalian genome : official journal of the International Mammalian Genome Society. vol 22. issue 5-6. 2011-09-16. PMID:21400203. |
a comprehensive representation of the gene content of the long arm of human chromosome 21 (hsa21q) remains of interest for the study of down syndrome, its associated phenotypic features, and mouse models. |
2011-09-16 |
2023-08-12 |
human |
| D Strah, A Veble, G Rudolf, K Writzl, K Gersa. A Down syndrome female infant with partial trisomy of chromosome 21--abnormal nuchal translucency screening test. Genetic counseling (Geneva, Switzerland). vol 19. issue 4. 2009-03-30. PMID:19239088. |
a down syndrome female infant with partial duplication of the long arm of chromosome 21 was born resulted from a maternal pericentric inversion of region p1.1 to q22.1 of one of chromosome 21. |
2009-03-30 |
2023-08-12 |
Not clear |
| Eric A Crombez, Katrina M Dipple, Lisa A Schimmenti, Nagesh Ra. Duplication of the Down syndrome critical region does not predict facial phenotype in a baby with a ring chromosome 21. Clinical dysmorphology. vol 14. issue 4. 2005-12-21. PMID:16155419. |
we report an infant with a ring chromosome 21 containing a duplication of most of the long arm, including the down syndrome critical region [46,xx,r(21)(p11.2q22.3)]. |
2005-12-21 |
2023-08-12 |
Not clear |
| Horacio Rivera, Melva Gutiérrez-Angulo, Hilda Gómez-Sánchez, Nelly Macías-Gómez, Patricio Barros-Núñe. True vs. false inv(Y)(p11q11.2): a familial instance concurrent with trisomy 21. Annales de genetique. vol 45. issue 2. 2003-02-04. PMID:12119213. |
a boy with down syndrome due to a free trisomy 21 also had a metacentric y chromosome with an arm euchromatic and the other heterochromatic inherited from his phenotypically normal father. |
2003-02-04 |
2023-08-12 |
Not clear |