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661 related items for PubMed ID: 24656465

  • 21. S267P mutation in FGFR2: first report in a patient with Crouzon syndrome.
    Ke R, Yang X, Ge M, Cai T, Lei J, Mu X.
    J Craniofac Surg; 2015 Mar; 26(2):592-4. PubMed ID: 25759927
    [Abstract] [Full Text] [Related]

  • 22. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.
    Wilkie AO, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, Hockley AD, Hayward RD, David DJ, Pulleyn LJ, Rutland P.
    Nat Genet; 1995 Feb; 9(2):165-72. PubMed ID: 7719344
    [Abstract] [Full Text] [Related]

  • 23. Negative autoregulation of fibroblast growth factor receptor 2 expression characterizing cranial development in cases of Apert (P253R mutation) and Pfeiffer (C278F mutation) syndromes and suggesting a basis for differences in their cranial phenotypes.
    Britto JA, Moore RL, Evans RD, Hayward RD, Jones BM.
    J Neurosurg; 2001 Oct; 95(4):660-73. PubMed ID: 11596961
    [Abstract] [Full Text] [Related]

  • 24. Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome.
    Gorry MC, Preston RA, White GJ, Zhang Y, Singhal VK, Losken HW, Parker MG, Nwokoro NA, Post JC, Ehrlich GD.
    Hum Mol Genet; 1995 Aug; 4(8):1387-90. PubMed ID: 7581378
    [Abstract] [Full Text] [Related]

  • 25. Dura in the pathogenesis of syndromic craniosynostosis: fibroblast growth factor receptor 2 mutations in dural cells promote osteogenic proliferation and differentiation of osteoblasts.
    Ang BU, Spivak RM, Nah HD, Kirschner RE.
    J Craniofac Surg; 2010 Mar; 21(2):462-7. PubMed ID: 20489451
    [Abstract] [Full Text] [Related]

  • 26. 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; 14(2):174-6. PubMed ID: 8841188
    [Abstract] [Full Text] [Related]

  • 27. 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; 170(6):1532-7. PubMed ID: 27028366
    [Abstract] [Full Text] [Related]

  • 28. Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.
    Jabs EW, Li X, Scott AF, Meyers G, Chen W, Eccles M, Mao JI, Charnas LR, Jackson CE, Jaye M.
    Nat Genet; 1994 Nov; 8(3):275-9. PubMed ID: 7874170
    [Abstract] [Full Text] [Related]

  • 29. 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 Nov; 91(1-4):134-7. PubMed ID: 11173845
    [Abstract] [Full Text] [Related]

  • 30. Early mandibular morphological differences in patients with FGFR2 and FGFR3-related syndromic craniosynostoses: A 3D comparative study.
    Morice A, Cornette R, Giudice A, Collet C, Paternoster G, Arnaud É, Galliani E, Picard A, Legeai-Mallet L, Khonsari RH.
    Bone; 2020 Dec; 141():115600. PubMed ID: 32822871
    [Abstract] [Full Text] [Related]

  • 31. Q289P mutation in FGFR2 gene causes Saethre-Chotzen syndrome: some considerations about familial heterogeneity.
    Freitas EC, Nascimento SR, de Mello MP, Gil-da-Silva-Lopes VL.
    Cleft Palate Craniofac J; 2006 Mar; 43(2):142-7. PubMed ID: 16526917
    [Abstract] [Full Text] [Related]

  • 32. An etiologic and nosologic overview of craniosynostosis syndromes.
    Cohen MM.
    Birth Defects Orig Artic Ser; 1975 Mar; 11(2):137-89. PubMed ID: 179637
    [Abstract] [Full Text] [Related]

  • 33. Severe craniolacunae and upper and lower extremity anomalies resulting from Crouzon syndrome, FGFR2 mutation, and Ser347Cys variant.
    Raposo-Amaral CE, Oliveira YM, Denadai R, Raposo-Amaral CA, Ghizoni E.
    Childs Nerv Syst; 2021 Jul; 37(7):2391-2397. PubMed ID: 33404724
    [Abstract] [Full Text] [Related]

  • 34. Mutation detection in FGFR2 craniosynostosis syndromes.
    Hollway GE, Suthers GK, Haan EA, Thompson E, David DJ, Gecz J, Mulley JC.
    Hum Genet; 1997 Feb; 99(2):251-5. PubMed ID: 9048930
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  • 35. FGFR1 and FGFR2 mutations in Pfeiffer syndrome.
    Chokdeemboon C, Mahatumarat C, Rojvachiranonda N, Tongkobpetch S, Suphapeetiporn K, Shotelersuk V.
    J Craniofac Surg; 2013 Jan; 24(1):150-2. PubMed ID: 23348274
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  • 36. Differential effects of FGFR2 mutation in ophthalmic findings in Apert syndrome.
    Khong JJ, Anderson PJ, Hammerton M, Roscioli T, Selva D, David DJ.
    J Craniofac Surg; 2007 Jan; 18(1):39-42. PubMed ID: 17251833
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  • 37. Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans.
    Meyers GA, Orlow SJ, Munro IR, Przylepa KA, Jabs EW.
    Nat Genet; 1995 Dec; 11(4):462-4. PubMed ID: 7493034
    [Abstract] [Full Text] [Related]

  • 38. Molecular genetics of craniosynostotic syndromes.
    Müller U, Steinberger D, Kunze S.
    Graefes Arch Clin Exp Ophthalmol; 1997 Sep; 235(9):545-50. PubMed ID: 9342602
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  • 39. Beare-Stevenson syndrome: two new patients, including a novel finding of tracheal cartilaginous sleeve.
    Wenger TL, Bhoj EJ, Wetmore RF, Mennuti MT, Bartlett SP, Mollen TJ, McDonald-McGinn DM, Zackai EH.
    Am J Med Genet A; 2015 Apr; 167A(4):852-7. PubMed ID: 25706251
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  • 40. 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]

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