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Page 1
Showing results for crouzon t
Search for Crozon T instead (1 results)
New CRISPR/Cas9-based Fgfr2(C361Y/+) mouse model of Crouzon syndrome exhibits skull and behavioral abnormalities.
Yue YY, Lai CZ, Guo XS, Yang CS, Wang Y, Song GD, Jin XL. Yue YY, et al. J Mol Med (Berl). 2024 Oct;102(10):1255-1266. doi: 10.1007/s00109-024-02476-y. Epub 2024 Aug 19. J Mol Med (Berl). 2024. PMID: 39158595
Crouzon syndrome (CS), a syndromic craniosynostosis, is a craniofacial developmental deformity caused by mutations in fibroblast growth factor receptor 2 (FGFR2). ...In conclusion, we constructed a novel gene-edited Fgfr2(C361Y/+) mice strain based on CRISPR/Cas9, which di …
Crouzon syndrome (CS), a syndromic craniosynostosis, is a craniofacial developmental deformity caused by mutations in fibroblast grow …
Syndromes with supernumerary teeth.
Lubinsky M, Kantaputra PN. Lubinsky M, et al. Am J Med Genet A. 2016 Oct;170(10):2611-6. doi: 10.1002/ajmg.a.37763. Epub 2016 Jun 2. Am J Med Genet A. 2016. PMID: 27250821 Review.
An association of a Mendelian disorder with a low frequency manifestation of supernumerary teeth is difficult to exclude without large numbers, but several commonly cited syndromes lacked evidence for clear association, including Hallermann-Streiff syndrome, Fabry disease, Ehlers …
An association of a Mendelian disorder with a low frequency manifestation of supernumerary teeth is difficult to exclude without large numbe …
Crouzon syndrome: posterior fossa volume studies in vestibular orientation.
Pellerin P, Vinchon M, Dhellemmes P, Guerreschi P. Pellerin P, et al. Childs Nerv Syst. 2021 Oct;37(10):3105-3111. doi: 10.1007/s00381-021-05186-9. Epub 2021 Apr 27. Childs Nerv Syst. 2021. PMID: 33904938
INTRODUCTION: With the increasing possibilities of surgical treatment addressing the complex spectrum of defects in Crouzon syndrome (CS), it is of utmost importance to obtain accurate assessment of the malformation. ...
INTRODUCTION: With the increasing possibilities of surgical treatment addressing the complex spectrum of defects in Crouzon syndrome …
Apert and Crouzon syndromes: clinical findings, genes and extracellular matrix.
Carinci F, Pezzetti F, Locci P, Becchetti E, Carls F, Avantaggiato A, Becchetti A, Carinci P, Baroni T, Bodo M. Carinci F, et al. J Craniofac Surg. 2005 May;16(3):361-8. doi: 10.1097/01.scs.0000157078.53871.11. J Craniofac Surg. 2005. PMID: 15915098 Review.
Apert and Crouzon syndromes are well known craniostenosis. In the last 10 years several studies were performed to provide a better understanding of the etiology and pathogenesis of these diseases. ...
Apert and Crouzon syndromes are well known craniostenosis. In the last 10 years several studies were performed to provide a better un …
Crouzon Syndrome: Relationship of Eye Movements to Pattern Strabismus.
Weiss AH, Kelly JP, Hopper RA, Phillips JO. Weiss AH, et al. Invest Ophthalmol Vis Sci. 2015 Jul;56(8):4394-402. doi: 10.1167/iovs.14-15645. Invest Ophthalmol Vis Sci. 2015. PMID: 26176876
PURPOSE: To characterize conjugate eye movements in Crouzon syndrome (CS) patients with and without strabismus. METHODS: Smooth pursuit, saccades, horizontal optokinetic nystagmus (OKN), and horizontal vestibulo-ocular reflex (VOR) were recorded using binocular video-oculo …
PURPOSE: To characterize conjugate eye movements in Crouzon syndrome (CS) patients with and without strabismus. METHODS: Smooth pursu …
Crouzon syndrome: relationship of rectus muscle pulley location to pattern strabismus.
Weiss AH, Phillips J, Kelly JP. Weiss AH, et al. Invest Ophthalmol Vis Sci. 2014 Jan 15;55(1):310-7. doi: 10.1167/iovs.13-13069. Invest Ophthalmol Vis Sci. 2014. PMID: 24346169
PURPOSE: Investigate the relationship between the extorsion of the rectus muscle pulleys and the V-pattern exotropia and "overelevation in adduction" observed in Crouzon syndrome. METHODS: Twenty children with Crouzon syndrome had assessment of eye alignment. ...Ext …
PURPOSE: Investigate the relationship between the extorsion of the rectus muscle pulleys and the V-pattern exotropia and "overelevation in a …
Mechanical loading of cranial joints minimizes the craniofacial phenotype in Crouzon syndrome.
Moazen M, Hejazi M, Savery D, Jones D, Marghoub A, Alazmani A, Pauws E. Moazen M, et al. Sci Rep. 2022 Jun 11;12(1):9693. doi: 10.1038/s41598-022-13807-9. Sci Rep. 2022. PMID: 35690633 Free PMC article.
This study explores a non-surgical alternative using mechanical loading of the cranial joints to prevent or delay craniofacial phenotypes associated with Crouzon syndrome. We treated Crouzon syndrome mice before the onset of craniosynostosis by cyclical mechanical l …
This study explores a non-surgical alternative using mechanical loading of the cranial joints to prevent or delay craniofacial phenotypes as …
First-trimester prenatal diagnosis of Crouzon syndrome.
Schwartz M, Kreiborg S, Skovby F. Schwartz M, et al. Prenat Diagn. 1996 Feb;16(2):155-8. doi: 10.1002/(SICI)1097-0223(199602)16:2<155::AID-PD826>3.0.CO;2-7. Prenat Diagn. 1996. PMID: 8650126
Recently mutations in the fibroblast growth factor receptor 2 gene (FGFR2) were found to cause Crouzon. We have identified the recurrent mutation C342Y in two unrelated patients with Crouzon syndrome. One patient (A) belongs to a family in which Crouzon could …
Recently mutations in the fibroblast growth factor receptor 2 gene (FGFR2) were found to cause Crouzon. We have identified the recurr …
FGFR2 Mutation p.Cys342Arg Enhances Mitochondrial Metabolism-Mediated Osteogenesis via FGF/FGFR-AMPK-Erk1/2 Axis in Crouzon Syndrome.
Wang Y, Liu Y, Chen H, Liu X, Zhang Y, Wang Y, Gu Y. Wang Y, et al. Cells. 2022 Oct 5;11(19):3129. doi: 10.3390/cells11193129. Cells. 2022. PMID: 36231091 Free PMC article.
BACKGROUND: Crouzon syndrome ([OMIM] #123500) caused by FGFR2 mutation is an autosomal dominant syndrome with craniosynostosis, the underlying mechanism of which remains obscure. METHODS: First, whole exome sequencing was used to screen the possible pathogenic variant in t …
BACKGROUND: Crouzon syndrome ([OMIM] #123500) caused by FGFR2 mutation is an autosomal dominant syndrome with craniosynostosis, the u …
Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis.
Azoury SC, Reddy S, Shukla V, Deng CX. Azoury SC, et al. Int J Biol Sci. 2017 Nov 2;13(12):1479-1488. doi: 10.7150/ijbs.22373. eCollection 2017. Int J Biol Sci. 2017. PMID: 29230096 Free PMC article. Review.
The fibroblast growth factor receptor 2 (FGFR2) gene is perhaps the most extensively studied gene that is mutated in various craniosynostotic syndromes including Crouzon, Apert, Pfeiffer, Antley-Bixler, Beare-Stevenson cutis gyrata, Jackson-Weiss, Bent Bone Dysplasia, and …
The fibroblast growth factor receptor 2 (FGFR2) gene is perhaps the most extensively studied gene that is mutated in various craniosynostoti …
231 results