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Academic literature on the topic 'DS craniofacial dysmorphism'
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Journal articles on the topic "DS craniofacial dysmorphism"
Lee, Han-Chung, Kai-Leng Tan, Pike-See Cheah, and King-Hwa Ling. "Potential Role of JAK-STAT Signaling Pathway in the Neurogenic-to-Gliogenic Shift in Down Syndrome Brain." Neural Plasticity 2016 (2016): 1–12. http://dx.doi.org/10.1155/2016/7434191.
Full textNicolescu, Corina Ramona, Clara Cremillieux, and Jean-Louis Stephan. "Duodenogastric Intussusception in a 14-Week-Old Infant with Donohue Syndrome: Case Study." Case Reports in Pediatrics 2023 (October 18, 2023): 1–6. http://dx.doi.org/10.1155/2023/7799234.
Full textConstantinou, M., M. Lampi, V. Neocleous, P. Fanis, L. A. Phylactou, S. Psarelis, and K. Parperis. "AB1508 A NOVEL PATHOGENIC VARIANT IN ZNF462 GENE ASSOCIATED WITH WEISS-KRUSZKA SYNDROME AND SLE." Annals of the Rheumatic Diseases 81, Suppl 1 (May 23, 2022): 1856.1–1857. http://dx.doi.org/10.1136/annrheumdis-2022-eular.197.
Full textLocatelli, Chiara, Sara Onnivello, Caterina Gori, Giuseppe Ramacieri, Francesca Pulina, Chiara Marcolin, Renzo Vianello, et al. "A reassessment of Jackson’s checklist and identification of two Down syndrome sub-phenotypes." Scientific Reports 12, no. 1 (February 24, 2022). http://dx.doi.org/10.1038/s41598-022-06984-0.
Full textAbdalrazi, Wafa Saad, Fadwa A. Mansour Eldgheili, Negeia Imhamed Ali Elgaroushi, and Mohanad Abdulhadi Saleh Lawgali. "The Features of Down Syndrome and the Risk of Parent’s Age." Asian Journal of Pediatric Research, January 7, 2022, 12–18. http://dx.doi.org/10.9734/ajpr/2022/v8i130233.
Full textDissertations / Theses on the topic "DS craniofacial dysmorphism"
Ahumada, Saavedra José Tomás. "Craniofacial analysis of Down syndrome rodent models." Electronic Thesis or Diss., Strasbourg, 2024. http://www.theses.fr/2024STRAJ041.
Full textThe most frequent and distinctive alterations found in Down syndrome (DS) are learning disability and craniofacial (CF) dysmorphism. The CF phenotype includes reduced head dimensions, brachycephaly, reduced mediolateral orbital region, reduced bizygomatic breadth, small maxilla, small mandible, and increased individual variability. Until now, the cellular and molecular mechanisms underlying this CF phenotype remain unknown. This thesis, using a new panel of rats and mice models proposed new candidate genes for the DS-CF phenotype. We confirmed the role of Dyrk1a in neurocranium brachycephaly and identified the overdosage of the transcription factor Ripply3 for midface shortening through the downregulation of Tbx1, another transcription factor involved in similar phenotypes was found in Di George Syndrome. We defined new dosage-sensitive genes responsible for DS-CF malformations, and new models were proposed to rescue the DS-CF phenotype. This new knowledge may also lead to insights for specific brain and cardiovascular phenotypes observed in Tbx1 mutants and DS models