Zobrazeno 1 - 10
of 342
pro vyhledávání: '"Craniofacial malformations"'
Publikováno v:
Nigerian Journal of Paediatrics, Vol 45, Iss 1, Pp 19-24 (2024)
This report is on holoprosencephaly (HPE) sequence with other clinical and radiographic anomalies of other organs. This condition which has never been reported in Yenagoa, an oil rich Niger Delta Region was observed simultaneously in two neonates wit
Externí odkaz:
https://doaj.org/article/19ff0aa2ce644f6e8f8d55694e1c26ce
Publikováno v:
Case Reports in Women's Health, Vol 41, Iss , Pp e00582- (2024)
Choanal atresia occurs in about 1 in 5000 births and is associated with other structural and genetic abnormalities. Choanal atresia is usually diagnosed postnatally due to respiratory distress, and rarely diagnosed antenatally. Here, a woman with sev
Externí odkaz:
https://doaj.org/article/43229984e7e548159a3608ed81882ec9
Autor:
S. Sorrenti, E. Pisello, M. Ciuffreda, L. Brugiaferri, J. Silvestri, F. Lacchè, G. Castellana, A. Buonamico, A. Pennacchi, C. Piangatelli, D. Galante
Publikováno v:
Pediatric Anesthesia and Critical Care Journal (PACCJ), Vol 11, Iss 2, Pp 90-94 (2023)
Treacher Collins syndrome (TCS) is a rare genetic disor- der characterized by distinctive abnormalities of the head and face, affecting about one child in every 50000. Ab- normalities such micrognathia, cleft palate and cervical spine alterations are
Externí odkaz:
https://doaj.org/article/d5d7304e1d9e47a0b5247ef5e24a6703
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Fetal Alcohol Spectrum Disorder (FASD) arises from maternal consumption of alcohol during pregnancy affecting 2%–5% of the Western population. In Xenopus laevis studies, we showed that alcohol exposure during early gastrulation reduces retinoic aci
Externí odkaz:
https://doaj.org/article/73aa4d398f12401e89cb7425ea9409f8
Akademický článek
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Akademický článek
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Autor:
Sophie T. Raterman, Johannes W. Von Den Hoff, Sietske Dijkstra, Cheyenne De Vriend, Tim Te Morsche, Sanne Broekman, Jan Zethof, Erik De Vrieze, Frank A. D. T. G. Wagener, Juriaan R. Metz
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Introduction: Mutations in the FOXE1 gene are implicated in cleft palate and thyroid dysgenesis in humans.Methods: To investigate whether zebrafish could provide meaningful insights into the etiology of developmental defects in humans related to FOXE
Externí odkaz:
https://doaj.org/article/cd69ba0d7225418db7d9b46198853552
Autor:
Liesbeth Gebuijs, Frank A. Wagener, Jan Zethof, Carine E. Carels, Johannes W. Von den Hoff, Juriaan R. Metz
Publikováno v:
PeerJ, Vol 10, p e14338 (2022)
Background and Objective A key pathway controlling skeletal development is fibroblast growth factor (FGF) and FGF receptor (FGFR) signaling. Major regulatory functions of FGF signaling are chondrogenesis, endochondral and intramembranous bone develop
Externí odkaz:
https://doaj.org/article/400f02b5725e4e5aa43075316e757f21
Autor:
Rohit Nagpal, Gina Georgi, Sarah Knauth, Carmen Schmid-Herrmann, Nicole Muschol, Thomas Braulke, Bärbel Kahl-Nieke, Michael Amling, Thorsten Schinke, Till Koehne, Julian Petersen
Publikováno v:
Frontiers in Physiology, Vol 13 (2022)
Mucopolysaccharidosis VI (MPS VI) is a hereditary lysosomal storage disease caused by the absence of the enzyme arylsulfatase B (ARSB). Craniofacial defects are common in MPS VI patients and manifest as abnormalities of the facial bones, teeth, and t
Externí odkaz:
https://doaj.org/article/02310b6fde9748dc86d39d30d2a8e5ac
Autor:
Nagpal, Rohit, Georgi, Gina, Knauth, Sarah, Schmid-Herrmann, Carmen, Muschol, Nicole, Braulke, Thomas, Kahl-Nieke, Bärbel, Amling, Michael, Schinke, Thorsten, Koehne, Till, Petersen, Julian
Mucopolysaccharidosis VI (MPS VI) is a hereditary lysosomal storage disease caused by the absence of the enzyme arylsulfatase B (ARSB). Craniofacial defects are common in MPS VI patients and manifest as abnormalities of the facial bones, teeth, and t
Externí odkaz:
https://ul.qucosa.de/id/qucosa%3A93071
https://ul.qucosa.de/api/qucosa%3A93071/attachment/ATT-0/
https://ul.qucosa.de/api/qucosa%3A93071/attachment/ATT-0/
