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Journal Abstract Search

171 related items for PubMed ID: 35885943

  • 21. Further analysis of the Crouzon mouse: effects of the FGFR2(C342Y) mutation are cranial bone-dependent.
    Liu J, Nam HK, Wang E, Hatch NE.
    Calcif Tissue Int; 2013 May; 92(5):451-66. PubMed ID: 23358860
    [Abstract] [Full Text] [Related]

  • 22. Facial suture synostosis of newborn Fgfr1(P250R/+) and Fgfr2(S252W/+) mouse models of Pfeiffer and Apert syndromes.
    Purushothaman R, Cox TC, Maga AM, Cunningham ML.
    Birth Defects Res A Clin Mol Teratol; 2011 Jul; 91(7):603-9. PubMed ID: 21538817
    [Abstract] [Full Text] [Related]

  • 23. Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes.
    Rutland P, Pulleyn LJ, Reardon W, Baraitser M, Hayward R, Jones B, Malcolm S, Winter RM, Oldridge M, Slaney SF.
    Nat Genet; 1995 Feb; 9(2):173-6. PubMed ID: 7719345
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  • 24. Phenotypic variability of syndromic craniosynostosis caused by c.833G > T in FGFR2: Clinical and genetic evaluation of eight patients from a five-generation family.
    Wei X, Huang G, Gui B, Xie B, Chen S, Fan X, Chen Y.
    Mol Genet Genomic Med; 2022 Apr; 10(4):e1901. PubMed ID: 35235708
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  • 26. Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses).
    Kress W, Collmann H, Büsse M, Halliger-Keller B, Mueller CR.
    Cytogenet Cell Genet; 2000 Apr; 91(1-4):134-7. PubMed ID: 11173845
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  • 27. Extremely severe scoliosis, heterotopic ossification, and osteoarthritis in a three-generation family with Crouzon syndrome carrying a mutant c.799T>C FGFR2.
    Lin M, Lu Y, Sui Y, Zhao N, Jin Y, Yi D, Jiang M.
    Mol Genet Genomic Med; 2019 Sep; 7(9):e843. PubMed ID: 31318164
    [Abstract] [Full Text] [Related]

  • 28. Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.
    Park WJ, Meyers GA, Li X, Theda C, Day D, Orlow SJ, Jones MC, Jabs EW.
    Hum Mol Genet; 1995 Jul; 4(7):1229-33. PubMed ID: 8528214
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  • 30. Phenotypic diversity in patients with craniosynostoses unrelated to Apert syndrome: the role of fibroblast growth factor receptor gene mutations.
    Ito S, Sekido K, Kanno H, Sato H, Tanaka M, Yamaguchi K, Yamamoto I.
    J Neurosurg; 2005 Jan; 102(1 Suppl):23-30. PubMed ID: 16206730
    [Abstract] [Full Text] [Related]

  • 31. Molecular diagnosis of bilateral coronal synostosis.
    Mulliken JB, Steinberger D, Kunze S, Müller U.
    Plast Reconstr Surg; 1999 Nov; 104(6):1603-15. PubMed ID: 10541159
    [Abstract] [Full Text] [Related]

  • 32. Molecular analysis of exon 7 of the fibroblast growth factor receptor 2 (FGFR2) gene in an Indonesian patient with Apert syndrome: a case report.
    Brajadenta GS, Sari AIP, Nauphar D, Pratamawati TM, Thoreau V.
    J Med Case Rep; 2019 Aug 07; 13(1):244. PubMed ID: 31387623
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  • 34. Apert and Crouzon syndromes-Cognitive development, brain abnormalities, and molecular aspects.
    Fernandes MB, Maximino LP, Perosa GB, Abramides DV, Passos-Bueno MR, Yacubian-Fernandes A.
    Am J Med Genet A; 2016 Jun 07; 170(6):1532-7. PubMed ID: 27028366
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  • 35. Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes.
    Bellus GA, Gaudenz K, Zackai EH, Clarke LA, Szabo J, Francomano CA, Muenke M.
    Nat Genet; 1996 Oct 07; 14(2):174-6. PubMed ID: 8841188
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  • 37. Genotype-Phenotype Correlation of Tracheal Cartilaginous Sleeves and Fgfr2 Mutations in Mice.
    Lam AS, Liu CC, Deutsch GH, Rivera J, Perkins JA, Holmes G, Jabs EW, Cunningham ML, Dahl JP.
    Laryngoscope; 2021 Apr 07; 131(4):E1349-E1356. PubMed ID: 32886384
    [Abstract] [Full Text] [Related]

  • 38. FGFR2 mutation in 46,XY sex reversal with craniosynostosis.
    Bagheri-Fam S, Ono M, Li L, Zhao L, Ryan J, Lai R, Katsura Y, Rossello FJ, Koopman P, Scherer G, Bartsch O, Eswarakumar JV, Harley VR.
    Hum Mol Genet; 2015 Dec 01; 24(23):6699-710. PubMed ID: 26362256
    [Abstract] [Full Text] [Related]

  • 39. A Pro253Arg mutation in fibroblast growth factor receptor 2 (Fgfr2) causes skeleton malformation mimicking human Apert syndrome by affecting both chondrogenesis and osteogenesis.
    Yin L, Du X, Li C, Xu X, Chen Z, Su N, Zhao L, Qi H, Li F, Xue J, Yang J, Jin M, Deng C, Chen L.
    Bone; 2008 Apr 01; 42(4):631-43. PubMed ID: 18242159
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  • 40. Mutation of the fibroblast growth factor receptor 2 gene in Japanese patients with Apert syndrome.
    Matsumoto K, Urano Y, Kubo Y, Nakanishi H, Arase S.
    Plast Reconstr Surg; 1998 Feb 01; 101(2):307-11. PubMed ID: 9462761
    [Abstract] [Full Text] [Related]

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