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Journal Abstract Search

196 related items for PubMed ID: 27228464

  • 1. Tracheal cartilaginous sleeves in children with syndromic craniosynostosis.
    Wenger TL, Dahl J, Bhoj EJ, Rosen A, McDonald-McGinn D, Zackai E, Jacobs I, Heike CL, Hing A, Santani A, Inglis AF, Sie KC, Cunningham M, Perkins J.
    Genet Med; 2017 Jan; 19(1):62-68. PubMed ID: 27228464
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  • 3. Clinical and genetic characteristics of craniosynostosis in Hungary.
    Bessenyei B, Nagy A, Szakszon K, Mokánszki A, Balogh E, Ujfalusi A, Tihanyi M, Novák L, Bognár L, Oláh É.
    Am J Med Genet A; 2015 Dec; 167A(12):2985-91. PubMed ID: 26289989
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  • 4. Genotype-Phenotype Correlation of Tracheal Cartilaginous Sleeves and Fgfr2 Mutations in Mice.
    Lam AS, Liu CC, Deutsch GH, Rivera J, Perkins JA, Holmes G, Jabs EW, Cunningham ML, Dahl JP.
    Laryngoscope; 2021 Apr; 131(4):E1349-E1356. PubMed ID: 32886384
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  • 6. 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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  • 7. Less common underlying genetic diagnoses found in a cohort of 139 individuals surgically corrected for craniosynostosis.
    Ittleman BR, Mckissick J, Bosanko KA, Ocal E, Golinko M, Zarate YA.
    Am J Med Genet A; 2018 Feb; 176(2):487-491. PubMed ID: 29160013
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  • 8. 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 Feb; 68(2):435-439. PubMed ID: 32415020
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  • 9. Roles of FGFR2 and twist in human craniosynostosis: insights from genetic mutations in cranial osteoblasts.
    Marie PJ, Kaabeche K, Guenou H.
    Front Oral Biol; 2008 Feb; 12():144-159. PubMed ID: 18391499
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  • 10. 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
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  • 11. Tracheal Cartilaginous Sleeve in Syndromic Craniosynostosis: An Underrecognized Source of Significant Morbidity and Mortality.
    Pickrell BB, Meaike JD, Cañadas KT, Chandy BM, Buchanan EP.
    J Craniofac Surg; 2017 May; 28(3):696-699. PubMed ID: 28468151
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  • 14. 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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  • 15. Clinical study and some molecular features of Mexican patients with syndromic craniosynostosis.
    Ibarra-Arce A, Almaraz-Salinas M, Martínez-Rosas V, Ortiz de Zárate-Alarcón G, Flores-Peña L, Romero-Valdovinos M, Olivo-Díaz A.
    Mol Genet Genomic Med; 2020 Aug; 8(8):e1266. PubMed ID: 32510873
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  • 16. Craniosynostosis.
    Johnson D, Wilkie AO.
    Eur J Hum Genet; 2011 Apr; 19(4):369-76. PubMed ID: 21248745
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  • 17. Severe craniosynostosis in an infant with deletion 22q11.2 syndrome.
    Al-Hertani W, Hastings VA, McGowan-Jordan J, Hurteau J, Graham GE.
    Am J Med Genet A; 2013 Jan; 161A(1):153-7. PubMed ID: 23239640
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  • 18. 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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  • 19. Integrated strategy for fast and automated molecular characterization of genes involved in craniosynostosis.
    Stenirri S, Restagno G, Ferrero GB, Alaimo G, Sbaiz L, Mari C, Genitori L, Maurizio F, Cremonesi L.
    Clin Chem; 2007 Oct; 53(10):1767-74. PubMed ID: 17693524
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  • 20. Syndromic craniosynostosis, fibroblast growth factor receptor 2 (FGFR2) mutations, and sacrococcygeal eversion presenting as human tails.
    Wilkinson CC, Manchester DK, Keating RF, Ketch LL, Winston KR.
    Childs Nerv Syst; 2012 Aug; 28(8):1221-6. PubMed ID: 22661218
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