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PUBMED FOR HANDHELDS

Journal Abstract Search


127 related items for PubMed ID: 21403557

  • 1. Additional phenotypic features of Muenke syndrome in 2 Dutch families.
    de Jong T, Mathijssen IM, Hoogeboom AJ.
    J Craniofac Surg; 2011 Mar; 22(2):571-5. PubMed ID: 21403557
    [Abstract] [Full Text] [Related]

  • 2. A familial case of Muenke syndrome. Diverse expressivity of the FGFR3 Pro252Arg mutation--case report and review of the literature.
    Aravidis C, Konialis CP, Pangalos CG, Kosmaidou Z.
    J Matern Fetal Neonatal Med; 2014 Sep; 27(14):1502-6. PubMed ID: 24168007
    [Abstract] [Full Text] [Related]

  • 3. Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome.
    Kress W, Schropp C, Lieb G, Petersen B, Büsse-Ratzka M, Kunz J, Reinhart E, Schäfer WD, Sold J, Hoppe F, Pahnke J, Trusen A, Sörensen N, Krauss J, Collmann H.
    Eur J Hum Genet; 2006 Jan; 14(1):39-48. PubMed ID: 16251895
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  • 4. Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene.
    Graham JM, Braddock SR, Mortier GR, Lachman R, Van Dop C, Jabs EW.
    Am J Med Genet; 1998 May 26; 77(4):322-9. PubMed ID: 9600744
    [Abstract] [Full Text] [Related]

  • 5. Craniofacial growth in patients with FGFR3Pro250Arg mutation after fronto-orbital advancement in infancy.
    Ridgway EB, Wu JK, Sullivan SR, Vasudavan S, Padwa BL, Rogers GF, Mulliken JB.
    J Craniofac Surg; 2011 Mar 26; 22(2):455-61. PubMed ID: 21403567
    [Abstract] [Full Text] [Related]

  • 6. Ocular phenotype correlations in patients with TWIST versus FGFR3 genetic mutations.
    Jadico SK, Huebner A, McDonald-McGinn DM, Zackai EH, Young TL.
    J AAPOS; 2006 Oct 26; 10(5):435-44. PubMed ID: 17070479
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  • 7. 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 26; 163C(4):259-70. PubMed ID: 24127277
    [Abstract] [Full Text] [Related]

  • 8. Phenotypic variability in Muenke syndrome-observations from five Danish families.
    Öwall L, Kreiborg S, Dunø M, Hermann NV, Darvann TA, Hove H.
    Clin Dysmorphol; 2020 Jan 26; 29(1):1-9. PubMed ID: 31609728
    [Abstract] [Full Text] [Related]

  • 9. Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature.
    Doherty ES, Lacbawan F, Hadley DW, Brewer C, Zalewski C, Kim HJ, Solomon B, Rosenbaum K, Domingo DL, Hart TC, Brooks BP, Immken L, Lowry RB, Kimonis V, Shanske AL, Jehee FS, Bueno MR, Knightly C, McDonald-McGinn D, Zackai EH, Muenke M.
    Am J Med Genet A; 2007 Dec 15; 143A(24):3204-15. PubMed ID: 18000976
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  • 11. Craniofacial morphology and growth in Muenke syndrome, Saethre-Chotzen syndrome, and TCF12-related craniosynostosis.
    Choi TM, Lijten OW, Mathijssen IMJ, Wolvius EB, Ongkosuwito EM.
    Clin Oral Investig; 2022 Mar 15; 26(3):2927-2936. PubMed ID: 34904178
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  • 13. Genetic analysis of patients with the Saethre-Chotzen phenotype.
    Chun K, Teebi AS, Jung JH, Kennedy S, Laframboise R, Meschino WS, Nakabayashi K, Scherer SW, Ray PN, Teshima I.
    Am J Med Genet; 2002 Jun 15; 110(2):136-43. PubMed ID: 12116251
    [Abstract] [Full Text] [Related]

  • 14. [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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  • 16. Epilepsy in Muenke syndrome: FGFR3-related craniosynostosis.
    Agochukwu NB, Solomon BD, Gropman AL, Muenke M.
    Pediatr Neurol; 2012 Nov 12; 47(5):355-61. PubMed ID: 23044018
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  • 19. Evaluation of dental maturity in Muenke syndrome, Saethre-Chotzen syndrome, and TCF12-related craniosynostosis.
    Choi TM, Kramer GJC, Goos JAC, Mathijssen IMJ, Wolvius EB, Ongkosuwito EM.
    Eur J Orthod; 2022 May 24; 44(3):287-293. PubMed ID: 34424951
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