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Journal Abstract Search

182 related items for PubMed ID: 27683237

  • 1. 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; 173(1):157-162. PubMed ID: 27683237
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  • 2. 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
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  • 4. C278F mutation in FGFR2 gene causes two different types of syndromic craniosynostosis in two Chinese patients.
    Lin Y, Gao H, Ai S, Eswarakumar JVP, Chen C, Zhu Y, Li T, Liu B, Liu X, Luo L, Jiang H, Li Y, Liang X, Jin C, Huang X, Lu L.
    Mol Med Rep; 2017 Oct; 16(4):5333-5337. PubMed ID: 28849010
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  • 9. Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr.
    Barroso E, Pérez-Carrizosa V, García-Recuero I, Glucksman MJ, Wilkie AO, García-Minaur S, Heath KE.
    Am J Med Genet A; 2011 Dec; 155A(12):3050-3. PubMed ID: 22038757
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  • 10. 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
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  • 12. Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review.
    Nur BG, Pehlivanoğlu S, Mıhçı E, Calışkan M, Demir D, Alper OM, Kayserili H, Lüleci G.
    Pediatr Neurol; 2014 May; 50(5):482-90. PubMed ID: 24656465
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  • 13. Novel mutation detection in craniosynostosis promotes characterization, identification, gene expression, tissue engineering and helps clinical practice and translational research.
    Barik M, Bano R, Bajpai M, Tripathy M, Das S, Dwivedi S.
    Neurol India; 2020 May; 68(2):435-439. PubMed ID: 32415020
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  • 14. Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.
    Paumard-Hernández B, Berges-Soria J, Barroso E, Rivera-Pedroza CI, Pérez-Carrizosa V, Benito-Sanz S, López-Messa E, Santos F, García-Recuero II, Romance A, Ballesta-Martínez JM, López-González V, Campos-Barros Á, Cruz J, Guillén-Navarro E, Sánchez Del Pozo J, Lapunzina P, García-Miñaur S, Heath KE.
    Eur J Hum Genet; 2015 Jul; 23(7):907-14. PubMed ID: 25271085
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  • 16. NGS targeted screening of 100 Scandinavian patients with coronal synostosis.
    Topa A, Rohlin A, Andersson MK, Fehr A, Lovmar L, Stenman G, Kölby L.
    Am J Med Genet A; 2020 Feb; 182(2):348-356. PubMed ID: 31837199
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  • 18. 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
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  • 19. Muenke syndrome: An international multicenter natural history study.
    Kruszka P, Addissie YA, Yarnell CM, Hadley DW, Guillen Sacoto MJ, Platte P, Paelecke Y, Collmann H, Snow N, Schweitzer T, Boyadjiev SA, Aravidis C, Hall SE, Mulliken JB, Roscioli T, Muenke M.
    Am J Med Genet A; 2016 Apr; 170A(4):918-29. PubMed ID: 26740388
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  • 20. Molecular Mechanisms Involved in Craniosynostosis.
    Yapijakis C, Pachis N, Sotiriadou T, Vaila C, Michopoulou V, Vassiliou S.
    In Vivo; 2023 Apr; 37(1):36-46. PubMed ID: 36593018
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