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Journal Abstract Search

209 related items for PubMed ID: 31222448

  • 1. 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; 35(9):1451-1455. PubMed ID: 31222448
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  • 2. 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 Feb 11. PubMed ID: 30740633
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  • 3. Pfeiffer syndrome.
    Vogels A, Fryns JP.
    Orphanet J Rare Dis; 2006 Jun 01; 1():19. PubMed ID: 16740155
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  • 4. Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome.
    Lajeunie E, Heuertz S, El Ghouzzi V, Martinovic J, Renier D, Le Merrer M, Bonaventure J.
    Eur J Hum Genet; 2006 Mar 01; 14(3):289-98. PubMed ID: 16418739
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  • 5. 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 01; 95(4):660-73. PubMed ID: 11596961
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  • 6. [From gene to disease; craniosynostosis syndromes due to FGFR2-mutation].
    van Ravenswaaij-Arts CM, van den Ouweland AM, Hoogeboom AJ, Herbergs J, Pals G.
    Ned Tijdschr Geneeskd; 2002 Jan 12; 146(2):63-6. PubMed ID: 11820058
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  • 7. FGFR1 Pfeiffer syndrome without craniosynostosis: an additional case report.
    Hackett A, Rowe L.
    Clin Dysmorphol; 2006 Oct 12; 15(4):207-210. PubMed ID: 16957473
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  • 9. 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 12; 163C(4):259-70. PubMed ID: 24127277
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  • 12. Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation.
    Bessenyei B, Tihanyi M, Hartwig M, Szakszon K, Oláh É.
    Am J Med Genet A; 2014 Dec 12; 164A(12):3176-9. PubMed ID: 25251565
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  • 15. Upper extremity anomalies in Pfeiffer syndrome and mutational correlations.
    Cerrato FE, Nuzzi LC, Theman TA, Taghinia A, Upton J, Labow BI.
    Plast Reconstr Surg; 2014 May 12; 133(5):654e-661e. PubMed ID: 24776567
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  • 17. 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 May 12; 91(1-4):134-7. PubMed ID: 11173845
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