BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

129 related articles for article (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
    [TBL] [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
    [TBL] [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
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 77(4):322-9. PubMed ID: 9600744
    [TBL] [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; 22(2):455-61. PubMed ID: 21403567
    [TBL] [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; 10(5):435-44. PubMed ID: 17070479
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 163C(4):259-70. PubMed ID: 24127277
    [TBL] [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; 29(1):1-9. PubMed ID: 31609728
    [TBL] [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; 143A(24):3204-15. PubMed ID: 18000976
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 14(3):289-98. PubMed ID: 16418739
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 26(3):2927-2936. PubMed ID: 34904178
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Typical features of craniofacial growth of the FGFR3-associated coronal synostosis syndrome (so-called Muenke craniosynostosis)].
    Reinhart E; Eulert S; Bill J; Würzler K; Phan The L; Reuther J
    Mund Kiefer Gesichtschir; 2003 May; 7(3):132-7. PubMed ID: 12764678
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 110(2):136-43. PubMed ID: 12116251
    [TBL] [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; 146(2):63-6. PubMed ID: 11820058
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Epilepsy in Muenke syndrome: FGFR3-related craniosynostosis.
    Agochukwu NB; Solomon BD; Gropman AL; Muenke M
    Pediatr Neurol; 2012 Nov; 47(5):355-61. PubMed ID: 23044018
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.
    Reardon W; Wilkes D; Rutland P; Pulleyn LJ; Malcolm S; Dean JC; Evans RD; Jones BM; Hayward R; Hall CM; Nevin NC; Baraister M; Winter RM
    J Med Genet; 1997 Aug; 34(8):632-6. PubMed ID: 9279753
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular genetic analysis of TWIST1 and FGFR3 genes in Korean patients with coronal synostosis: identification of three novel TWIST1 mutations.
    Ko JM; Jeong SY; Yang JA; Park DH; Yoon SH
    Plast Reconstr Surg; 2012 May; 129(5):814e-821e. PubMed ID: 22544111
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 44(3):287-293. PubMed ID: 34424951
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Expansion of the variable expression of Muenke syndrome: Hydrocephalus without craniosynostosis.
    González-Del Angel A; Estandía-Ortega B; Alcántara-Ortigoza MA; Martínez-Cruz V; Gutiérrez-Tinajero DJ; Rasmussen A; Gómez-González CS
    Am J Med Genet A; 2016 Dec; 170(12):3189-3196. PubMed ID: 27568649
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.