Literatura científica selecionada sobre o tema "DS craniofacial dysmorphism"
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Artigos de revistas sobre o assunto "DS craniofacial dysmorphism"
Lee, Han-Chung, Kai-Leng Tan, Pike-See Cheah e 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.
Texto completo da fonteNicolescu, Corina Ramona, Clara Cremillieux e Jean-Louis Stephan. "Duodenogastric Intussusception in a 14-Week-Old Infant with Donohue Syndrome: Case Study". Case Reports in Pediatrics 2023 (18 de outubro de 2023): 1–6. http://dx.doi.org/10.1155/2023/7799234.
Texto completo da fonteConstantinou, M., M. Lampi, V. Neocleous, P. Fanis, L. A. Phylactou, S. Psarelis e 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 (23 de maio de 2022): 1856.1–1857. http://dx.doi.org/10.1136/annrheumdis-2022-eular.197.
Texto completo da fonteLocatelli, 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, n.º 1 (24 de fevereiro de 2022). http://dx.doi.org/10.1038/s41598-022-06984-0.
Texto completo da fonteAbdalrazi, Wafa Saad, Fadwa A. Mansour Eldgheili, Negeia Imhamed Ali Elgaroushi e Mohanad Abdulhadi Saleh Lawgali. "The Features of Down Syndrome and the Risk of Parent’s Age". Asian Journal of Pediatric Research, 7 de janeiro de 2022, 12–18. http://dx.doi.org/10.9734/ajpr/2022/v8i130233.
Texto completo da fonteTeses / dissertações sobre o assunto "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.
Texto completo da fonteThe 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