Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Jacqueline A C Goos"'
Publikováno v:
PLoS ONE, Vol 7, Iss 4, p e35293 (2012)
The ventromedial medulla (VM), subdivided in a rostral (RVM) and a caudal (CVM) part, has a powerful influence on the spinal cord. In this study, we have identified the distribution of glycine and GABA containing neurons in the VM with projections to
Externí odkaz:
https://doaj.org/article/63c0cd191d0b4c4abb05a4d10da3922e
Autor:
Irene Margreet Jacqueline Mathijssen, Tsun Man Choi, Jacqueline A C Goos, Edwin M. Ongkosuwito, Gem J. C. Kramer, Eppo B. Wolvius
Publikováno v:
Choi, T M, Kramer, G J C, Goos, J A C, Mathijssen, I M J, Wolvius, E B & Ongkosuwito, E M 2022, ' Evaluation of dental maturity in Muenke syndrome, Saethre-Chotzen syndrome, and TCF12-related craniosynostosis ', European Journal of Orthodontics, vol. 44, no. 3, pp. 287-293 . https://doi.org/10.1093/ejo/cjab056
European Journal of Orthodontics, 44(3), 287-293. Oxford University Press
European Journal of Orthodontics, 44(3), 287-293. Oxford University Press
Objectives To determine whether dental maturity (dental development) was delayed in patients with Muenke syndrome, Saethre-Chotzen syndrome, and TCF12-related craniosynostosis, compared with a Dutch control group without syndromes. Materials and meth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c124c08a7ebd5f0018d4a616cf93f0eb
https://hdl.handle.net/1871.1/9de11c83-2211-445f-a26d-e3d8e4390123
https://hdl.handle.net/1871.1/9de11c83-2211-445f-a26d-e3d8e4390123
Autor:
Eppo B. Wolvius, Edwin M. Ongkosuwito, Irene M.J. Mathijssen, Lea Kragt, Jacqueline A C Goos, T. M. Choi
Publikováno v:
Clinical Oral Investigations, 23(7), 2995-3003. Springer-Verlag
Clinical Oral Investigations, 23, 7, pp. 2995-3003
Clinical Oral Investigations, 23, 2995-3003
Clinical Oral Investigations
Clinical Oral Investigations, 23, 7, pp. 2995-3003
Clinical Oral Investigations, 23, 2995-3003
Clinical Oral Investigations
Objectives To determine whether the intramaxillary relationship of patients with Muenke syndrome and Saethre-Chotzen syndrome or TCF12-related craniosynostosis are systematically different than those of a control group. Material and methods Forty-eig
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c184e8914342f3f068f697306dbb33ae
https://pure.eur.nl/en/publications/25e0ef4c-6c3c-4a69-9564-6cba34c18b25
https://pure.eur.nl/en/publications/25e0ef4c-6c3c-4a69-9564-6cba34c18b25
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dba8ea147480af61f63029510c53f3e9
https://doi.org/10.1159/000492266
https://doi.org/10.1159/000492266
Autor:
Marieke F. van Dooren, Irene M.J. Mathijssen, Hadeel Adel Al-Lami, Karen J. Liu, William B. Barrell, Peter J. van der Spek, Jacqueline A C Goos, Elena Torban, Sigrid M. A. Swagemakers
Publikováno v:
European Journal of Human Genetics, 30(3), 282-290. Nature Publishing Group
Craniosynostosis is a birth defect occurring in approximately one in 2000 live births, where premature fusion of the cranial bones inhibits growth of the skull during critical periods of brain development. The resulting changes in skull shape can lea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f5073a07f36f003654081e7dd6bf642
https://pubmed.ncbi.nlm.nih.gov/34719684
https://pubmed.ncbi.nlm.nih.gov/34719684
Autor:
Jacqueline A C, Goos, Walter K, Vogel, Hana, Mlcochova, Christopher J, Millard, Elahe, Esfandiari, Wisam H, Selman, Eduardo, Calpena, Nils, Koelling, Evan L, Carpenter, Sigrid M A, Swagemakers, Peter J, van der Spek, Theresa M, Filtz, John W R, Schwabe, Urszula T, Iwaniec, Irene M J, Mathijssen, Mark, Leid, Stephen R F, Twigg
Publikováno v:
Human Molecular Genetics
Craniosynostosis, the premature ossification of cranial sutures, is a developmental disorder of the skull vault, occurring in approximately 1 in 2250 births. The causes are heterogeneous, with a monogenic basis identified in ~25% of patients. Using w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e7a940a04fb379b7c00ee6a00f4c7dfc
https://pubmed.ncbi.nlm.nih.gov/31067316
https://pubmed.ncbi.nlm.nih.gov/31067316
Publikováno v:
BMJ Case Rep
After a high-energy trauma, a 37-year-old motorcyclist presented to the emergency ward with a Hoffa fracture of the lateral femoral condyle of the right knee. Following admission, the patient developed a pale, cold and pulseless right foot. CT angiog
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16104c838a4e8755a848a09647937fcf
https://doi.org/10.1136/bcr-2019-232348
https://doi.org/10.1136/bcr-2019-232348
Autor:
M E P van den Elzen, A. J. M. Hoogeboom, A. M. W. Van Den Ouweland, Andrew O.M. Wilkie, Irene M.J. Mathijssen, Jacqueline A C Goos, Stephen R.F. Twigg
Publikováno v:
European Journal of Human Genetics, 22(8), 995-1001. Nature Publishing Group
Craniofrontonasal syndrome (CFNS) is an X-linked developmental malformation, caused by mutations in the EFNB1 gene, which have only been described since 2004. A genotype-phenotype correlation seems not to be present. As it is of major importance to a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c8773ee1ff77365ef79ce88d6430682
https://doi.org/10.1038/ejhg.2013.273
https://doi.org/10.1038/ejhg.2013.273
Autor:
Elizabeth Sweeney, Irene M.J. Mathijssen, Nu Owase Jeelani, David W. Johnson, Richard J. Cornall, Stephen R.F. Twigg, John Broxholme, Dylan J. Murray, Sally Ann Lynch, Peter J. van der Spek, A. Jeannette M. Hoogeboom, Vikram P Sharma, Angela F. Brady, Simon J. McGowan, Andrew O.M. Wilkie, Aimee L. Fenwick, Mia Brockop, Alexander Kanapin, Sophia C. Bennett, Louise C. Wilson, Julie M. Phipps, Susan Tomkins, Steven A. Wall, John B. Mulliken, Jacqueline A C Goos, Robert E. Maxson
Publikováno v:
Nature Genetics, 45(3), 304-307. Nature Publishing Group
Craniosynostosis, the premature fusion of the cranial sutures, is a heterogeneous disorder with a prevalence of ~1 in 2,200 (refs. 1,2). A specific genetic etiology can be identified in ~21% of cases3, including mutations of TWIST1, which encodes a c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4470ea788694f6ca548b16cbc2ba562d
https://doi.org/10.1038/ng.2531
https://doi.org/10.1038/ng.2531
Autor:
L. N. A. van Adrichem, Edwin M. Ongkosuwito, Evert Wattel, J.W. van Neck, Jacqueline A C Goos, K.G.H. van der Wal
Publikováno v:
Cleft Palate-Craniofacial Journal, 49(4), 472-476. American Cleft Palate Craniofacial Association
Objective Different three-dimensional stereophotogrammetry systems and analyzing methods exist that often use landmarks for comparison. Measurement errors in landmark or surface comparison are mostly within 1 mm, which seems clinically acceptable. Th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::508315aa64e33682b66f076caa0ce730
https://doi.org/10.1597/10-270
https://doi.org/10.1597/10-270