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Journal Abstract Search

171 related items for PubMed ID: 35885943

  • 1. Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype.
    Lo Vecchio F, Tabolacci E, Nobile V, Pomponi MG, Pietrobono R, Neri G, Amenta S, Candida E, Grippaudo C, Lo Cascio E, Vita A, Tiberio F, Arcovito A, Lattanzi W, Genuardi M, Chiurazzi P.
    Genes (Basel); 2022 Jun 27; 13(7):. PubMed ID: 35885943
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  • 2. Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.
    Passos-Bueno MR, Sertié AL, Richieri-Costa A, Alonso LG, Zatz M, Alonso N, Brunoni D, Ribeiro SF.
    Am J Med Genet; 1998 Jul 07; 78(3):237-41. PubMed ID: 9677057
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  • 10. FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.
    Meyers GA, Day D, Goldberg R, Daentl DL, Przylepa KA, Abrams LJ, Graham JM, Feingold M, Moeschler JB, Rawnsley E, Scott AF, Jabs EW.
    Am J Hum Genet; 1996 Mar 07; 58(3):491-8. PubMed ID: 8644708
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  • 11. 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 07; 37(7):2391-2397. PubMed ID: 33404724
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  • 12. Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
    Roscioli T, Elakis G, Cox TC, Moon DJ, Venselaar H, Turner AM, Le T, Hackett E, Haan E, Colley A, Mowat D, Worgan L, Kirk EP, Sachdev R, Thompson E, Gabbett M, McGaughran J, Gibson K, Gattas M, Freckmann ML, Dixon J, Hoefsloot L, Field M, Hackett A, Kamien B, Edwards M, Adès LC, Collins FA, Wilson MJ, Savarirayan R, Tan TY, Amor DJ, McGillivray G, White SM, Glass IA, David DJ, Anderson PJ, Gianoutsos M, Buckley MF.
    Am J Med Genet C Semin Med Genet; 2013 Nov 07; 163C(4):259-70. PubMed ID: 24127277
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  • 13. Mutation detection in FGFR2 craniosynostosis syndromes.
    Hollway GE, Suthers GK, Haan EA, Thompson E, David DJ, Gecz J, Mulley JC.
    Hum Genet; 1997 Feb 07; 99(2):251-5. PubMed ID: 9048930
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  • 14. 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 07; 4(8):1387-90. PubMed ID: 7581378
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  • 15. Pfeiffer type 2 syndrome: review with updates on its genetics and molecular biology.
    Rai R, Iwanaga J, Dupont G, Oskouian RJ, Loukas M, Oakes WJ, Tubbs RS.
    Childs Nerv Syst; 2019 Sep 07; 35(9):1451-1455. PubMed ID: 31222448
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  • 17. Sequence analysis of fibroblast growth factor receptor 2 ( FGFR2 ) in Japanese patients with craniosynostosis.
    Sakai N, Tokunaga K, Yamazaki Y, Shida H, Sakata Y, Susami T, Nakakita N, Takato T, Uchinuma E.
    J Craniofac Surg; 2001 Nov 07; 12(6):580-5. PubMed ID: 11711827
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  • 19. 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 07; 21(2):462-7. PubMed ID: 20489451
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  • 20. Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses.
    Ohishi A, Nishimura G, Kato F, Ono H, Maruwaka K, Ago M, Suzumura H, Hirose E, Uchida Y, Fukami M, Ogata T.
    Am J Med Genet A; 2017 Jan 07; 173(1):157-162. PubMed ID: 27683237
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