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Letteratura scientifica selezionata sul tema "DS craniofacial dysmorphism"

Autore: Grafiati

Pubblicato: 14 dicembre 2024

Ultima modifica: 31 luglio 2025

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Articoli di riviste sul tema "DS craniofacial dysmorphism"

1

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.

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Abstract (sommario):

Trisomy of human chromosome 21 in Down syndrome (DS) leads to several phenotypes, such as mild-to-severe intellectual disability, hypotonia, and craniofacial dysmorphisms. These are fundamental hallmarks of the disorder that affect the quality of life of most individuals with DS. Proper brain development involves meticulous regulation of various signaling pathways, and dysregulation may result in abnormal neurodevelopment. DS brain is characterized by an increased number of astrocytes with reduced number of neurons. In mouse models for DS, the pool of neural progenitor cells commits to glia ra

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2

Nicolescu, 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.

Testo completo

Abstract (sommario):

Donohue syndrome (DS) is a rare recessively inherited disorder characterized by severe insulin resistance caused by genetic defects affecting the insulin receptor. The classical clinical characteristics include severe intrauterine growth restriction, craniofacial dysmorphic features, body and skin features, and soft tissue overgrowth. Postnatal growth retardation, cardiac, gastrointestinal, and renal complications, and infection susceptibility develop within the first few months of life, leading to a short life expectancy (<2 years). The classical metabolic abnormalities vary from fasting h

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3

Constantinou, M., M. Lampi, V. Neocleous, et al. "AB1508 A NOVEL PATHOGENIC VARIANT IN ZNF462 GENE ASSOCIATED WITH WEISS-KRUSZKA SYNDROME AND SLE." Annals of the Rheumatic Diseases 81, Suppl 1 (2022): 1856.1–1857. http://dx.doi.org/10.1136/annrheumdis-2022-eular.197.

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Abstract (sommario):

BackgroundWeiss-Kruszka syndrome (WSKA) is an autosomal dominant congenital anomaly syndrome due to mutations in the ZNF462 gene and manifests with developmental delay and multiple craniofacial abnormalities with variable expressivity1. It is also characterized by cognitive impairment, whilst about a third of the affected individuals belong to the autism spectrum. Although the disease is inherited with the autosomal dominant manner, most of the described subjects (95%) had de novo variants with no affected family members1. WSKA has been recently described and only 26 (including our patient) af

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4

Locatelli, Chiara, Sara Onnivello, Caterina Gori, et al. "A reassessment of Jackson’s checklist and identification of two Down syndrome sub-phenotypes." Scientific Reports 12, no. 1 (2022). http://dx.doi.org/10.1038/s41598-022-06984-0.

Testo completo

Abstract (sommario):

AbstractDown syndrome (DS) is characterised by several clinical features including intellectual disability (ID) and craniofacial dysmorphisms. In 1976, Jackson and coll. identified a checklist of signs for clinical diagnosis of DS; the utility of these checklists in improving the accuracy of clinical diagnosis has been recently reaffirmed, but they have rarely been revised. The purpose of this work is to reassess the characteristic phenotypic signs and their frequencies in 233 DS subjects, following Jackson's checklist. 63.77% of the subjects showed more than 12 signs while none showed less th

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5

Abdalrazi, 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.

Testo completo

Abstract (sommario):

Background: Down syndrome is the most common autosomal disorder in humans. And the most common genetic chromosomal disorder causing mental disability in children. It also cause other medical abnormalities including heart and gastrointestinal disorder. These children sharing common features and characteristic faces. Each individual with this syndrome will not have all the features, but they will have a unique combination. Objective: In our study we try to spot light on the craniofacial features of Down syndrome in our country: their percentage; to compare it with another

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Tesi sul tema "DS craniofacial dysmorphism"

1

Ahumada, Saavedra José Tomás. "Craniofacial analysis of Down syndrome rodent models." Electronic Thesis or Diss., Strasbourg, 2024. http://www.theses.fr/2024STRAJ041.

Testo completo

Abstract (sommario):

Les altérations les plus fréquentes et les plus caractéristiques du syndrome de Down (SD) sont les troubles de l'apprentissage et la dysmorphie crâniofaciale (CF). Le phénotype CF comprend des dimensions réduites de la tête, une brachycéphalie, une région orbitale médio-latérale réduite, une largeur bizygomatique réduite, un petit maxillaire, une petite mandibule et une variabilité individuelle accrue. Jusqu'à présent, les mécanismes cellulaires et moléculaires qui sous-tendent ce phénotype CF restent inconnus. Cette thèse, utilisant un nouveau panel de modèles de rats et de souris, a proposé

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