Zobrazeno 1 - 10
of 119
pro vyhledávání: '"craniosynostosis syndromes"'
Autor:
Linda Gaillard, Anne Goverde, Quincy C. C. van den Bosch, Fernanda S. Jehee, Erwin Brosens, Danielle Veenma, Frank Magielsen, Annelies de Klein, Irene M. J. Mathijssen, Marieke F. van Dooren
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Congenital diaphragmatic hernia (CDH) is a life-threatening birth defect that presents as either an isolated diaphragm defect or as part of a complex disorder with a wide array of anomalies (complex CDH). Some patients with complex CDH display distin
Externí odkaz:
https://doaj.org/article/0e39453c73344b71ac8d697ccb435594
Autor:
Erwin Brosens, Frank J. Magielsen, Anne Goverde, Linda Gaillard, Annelies de Klein, Fernanda Sarquis Jehee, Quincy C. C. van den Bosch, Danielle Veenma, Marieke F. van Dooren, Irene M.J. Mathijssen
Publikováno v:
Frontiers in Pediatrics
Frontiers in Pediatrics, Vol 9 (2021)
Frontiers in Pediatrics, Vol 9 (2021)
Congenital diaphragmatic hernia (CDH) is a life-threatening birth defect that presents as either an isolated diaphragm defect or as part of a complex disorder with a wide array of anomalies (complex CDH). Some patients with complex CDH display distin
Publikováno v:
Molecular Syndromology, 10(1-2), 6-23. Karger
In 1993, Jabs et al. were the first to describe a genetic origin of craniosynostosis. Since this discovery, the genetic causes of the most common syndromes have been described. In 2015, a total of 57 human genes were reported for which there had been
Publikováno v:
Clinical pediatrics. 60(3)
Autor:
Asher Ornoy
Publikováno v:
Fundamentals of Craniofacial Malformations ISBN: 9783030460235
The craniofacial complex develops during the first trimester of pregnancy, but its final shaping, which is mainly dependent on genetic factors, extends into the second and third trimesters. It is intimately connected with the development of the brain
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2017a2bf8bb0fcf82389677a4f534dd7
https://doi.org/10.1007/978-3-030-46024-2_4
https://doi.org/10.1007/978-3-030-46024-2_4
Publikováno v:
THE ANATOMICAL RECORD
THE ANATOMICAL RECORD, 2016, 299 (12), pp.1616-1630. ⟨10.1002/ar.23449⟩
Anatomical Record (Hoboken, N.j. : 2007)
Heuzé, Y, Kawasaki, K, Schwarz, T, Schoenebeck, J & Richtsmeier, J 2016, ' Developmental and evolutionary significance of the zygomatic bone ', Anatomical Record, vol. 299, no. 12, pp. 1616–1630 . https://doi.org/10.1002/ar.23449
THE ANATOMICAL RECORD, 2016, 299 (12), pp.1616-1630. ⟨10.1002/ar.23449⟩
Anatomical Record (Hoboken, N.j. : 2007)
Heuzé, Y, Kawasaki, K, Schwarz, T, Schoenebeck, J & Richtsmeier, J 2016, ' Developmental and evolutionary significance of the zygomatic bone ', Anatomical Record, vol. 299, no. 12, pp. 1616–1630 . https://doi.org/10.1002/ar.23449
The zygomatic bone is derived evolutionarily from the orbital series. In most modern mammals the zygomatic bone forms a large part of the face and usually serves as a bridge that connects the facial skeleton to the neurocranium. Our aim is to provide
Publikováno v:
Eye
BACKGROUND Genetic syndromes often have ocular involvement. Ophthalmologists may have difficulty identifying dysmorphic features in genetic syndrome evaluations. We investigated the sensitivity and specificity of Face2Gene (F2G), a digital image anal
Publikováno v:
DeckerMed Plastic Surgery.
Craniofacial syndromes are a diverse group of congenital disorders primarily affecting structures of the head and face. Recent genetic advances have improved our ability to diagnosis specific syndromes, understand the molecular basis for abnormal emb
Autor:
Shannon LeBlanc, Christopher Barnett, Michael Buckley, David J. David, Alison Colley, Tony Roscioli
Publikováno v:
Molecular Syndromology. 9:149-153
Crouzon syndrome (CS) and Beare-Stevenson syndrome (BSS) are craniosynostosis syndromes caused by mutations in the fibroblast growth factor 2 (FGFR2) gene. CS is more common (1 in 60,000 live births) than BSS, where fewer than 20 individuals have bee
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