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Ablepharon makrostomi sendromu (Turkish Wikipedia)

Analysis of information sources in references of the Wikipedia article "Ablepharon makrostomi sendromu" in Turkish language version.

refsWebsite
Global rank Turkish rank
10doi.org
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10nih.gov
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6web.archive.org
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2rarediseases.org
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1eyewiki.org
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1ugent.be
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1uniprot.org
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1archive.org
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1globalgenes.org
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1arizona.edu
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archive.org

arizona.edu

disorders.eyes.arizona.edu

doi.org

  • Ciriaco P, Carretta A, Negri G (August 2019). "Laryngo-tracheal stenosis in a woman with ablepharon macrostomia syndrome". BMC Pulmonary Medicine. 19 (1). s. 163. doi:10.1186/s12890-019-0921-8 Özgürce erişilebilir. PMC 6712709 $2. PMID 31462237. 
  • Cruz AA, Quiroz D, Boza T, Wambier SP, Akaishi PS (2019). "Long-Term Results of the Surgical Management of the Upper Eyelids in "Ablepharon"-Macrostomia Syndrome". Ophthalmic Plastic and Reconstructive Surgery. 36 (1). ss. 21-25. doi:10.1097/IOP.0000000000001442 Özgürce erişilebilir. PMID 31373987. 
  • De Maria B, Mazzanti L, Roche N, Hennekam RC (August 2016). "Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview". American Journal of Medical Genetics. Part A. 170 (8). ss. 1989-2001. doi:10.1002/ajmg.a.37757. PMID 27196381. 
  • Isenmann S, Arthur A, Zannettino AC, Turner JL, Shi S, Glackin CA, Gronthos S (October 2009). "TWIST family of basic helix-loop-helix transcription factors mediate human mesenchymal stem cell growth and commitment". Stem Cells. 27 (10). ss. 2457-68. doi:10.1002/stem.181 Özgürce erişilebilir. PMID 19609939. 
  • Lee MS, Lowe G, Flanagan S, Kuchler K, Glackin CA (November 2000). "Human Dermo-1 has attributes similar to twist in early bone development". Bone. 27 (5). ss. 591-602. doi:10.1016/S8756-3282(00)00380-X. PMID 11062344. 
  • Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Hoischen A, Huang H, Valkanas E, Pusey B, Schanze D, Venselaar H, Vulto-van Silfhout AT, Wolfe LA, Tifft CJ, Zerfas PM, Zambruno G, Kariminejad A, Sabbagh-Kermani F, Lee J, Tsokos MG, Lee CC, Ferraz V, da Silva EM, Stevens CA, Roche N, Bartsch O, Farndon P, Bermejo-Sanchez E, Brooks BP, Maduro V, Dallapiccola B, Ramos FJ, Chung HY, Le Caignec C, Martins F, Jacyk WK, Mazzanti L, Brunner HG, Bakkers J, Lin S, Malicdan MC, Boerkoel CF, Gahl WA, de Vries BB, van Haelst MM, Zenker M, Markello TC (July 2015). "Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes". American Journal of Human Genetics. 97 (1). ss. 99-110. doi:10.1016/j.ajhg.2015.05.017. PMC 4572501 $2. PMID 26119818. 
  • Rohena L, Kuehn D, Marchegiani S, Higginson JD (April 2011). "Evidence for autosomal dominant inheritance of ablepharon-macrostomia syndrome". American Journal of Medical Genetics. Part A. 155A (4). ss. 850-4. doi:10.1002/ajmg.a.33900. PMID 21595001. 
  • Larumbe J, Villalta P, Velez I (2011). "Clinical variant of ablepharon macrostomia syndrome". Case Reports in Dermatological Medicine. Cilt 2011. s. 593045. doi:10.1155/2011/593045 Özgürce erişilebilir. PMC 3504267 $2. PMID 23198177. 
  • Takenouchi T, Sakamoto Y, Sato H, Suzuki H, Uehara T, Ohsone Y, Kosaki K (December 2018). "Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution". American Journal of Medical Genetics. Part A. 176 (12). ss. 2777-2780. doi:10.1002/ajmg.a.40525. PMID 30450715. 
  • Cruz AA, Quiroz D, Boza T, Wambier SP, Akaishi PS (2020). "Long-Term Results of the Surgical Management of the Upper Eyelids in "Ablepharon"-Macrostomia Syndrome". Ophthalmic Plastic and Reconstructive Surgery. 36 (1). ss. 21-25. doi:10.1097/IOP.0000000000001442. PMID 31373987. 

eyewiki.org

globalgenes.org

nih.gov

ncbi.nlm.nih.gov

  • Ciriaco P, Carretta A, Negri G (August 2019). "Laryngo-tracheal stenosis in a woman with ablepharon macrostomia syndrome". BMC Pulmonary Medicine. 19 (1). s. 163. doi:10.1186/s12890-019-0921-8 Özgürce erişilebilir. PMC 6712709 $2. PMID 31462237. 
  • Cruz AA, Quiroz D, Boza T, Wambier SP, Akaishi PS (2019). "Long-Term Results of the Surgical Management of the Upper Eyelids in "Ablepharon"-Macrostomia Syndrome". Ophthalmic Plastic and Reconstructive Surgery. 36 (1). ss. 21-25. doi:10.1097/IOP.0000000000001442 Özgürce erişilebilir. PMID 31373987. 
  • De Maria B, Mazzanti L, Roche N, Hennekam RC (August 2016). "Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview". American Journal of Medical Genetics. Part A. 170 (8). ss. 1989-2001. doi:10.1002/ajmg.a.37757. PMID 27196381. 
  • Isenmann S, Arthur A, Zannettino AC, Turner JL, Shi S, Glackin CA, Gronthos S (October 2009). "TWIST family of basic helix-loop-helix transcription factors mediate human mesenchymal stem cell growth and commitment". Stem Cells. 27 (10). ss. 2457-68. doi:10.1002/stem.181 Özgürce erişilebilir. PMID 19609939. 
  • Lee MS, Lowe G, Flanagan S, Kuchler K, Glackin CA (November 2000). "Human Dermo-1 has attributes similar to twist in early bone development". Bone. 27 (5). ss. 591-602. doi:10.1016/S8756-3282(00)00380-X. PMID 11062344. 
  • Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Hoischen A, Huang H, Valkanas E, Pusey B, Schanze D, Venselaar H, Vulto-van Silfhout AT, Wolfe LA, Tifft CJ, Zerfas PM, Zambruno G, Kariminejad A, Sabbagh-Kermani F, Lee J, Tsokos MG, Lee CC, Ferraz V, da Silva EM, Stevens CA, Roche N, Bartsch O, Farndon P, Bermejo-Sanchez E, Brooks BP, Maduro V, Dallapiccola B, Ramos FJ, Chung HY, Le Caignec C, Martins F, Jacyk WK, Mazzanti L, Brunner HG, Bakkers J, Lin S, Malicdan MC, Boerkoel CF, Gahl WA, de Vries BB, van Haelst MM, Zenker M, Markello TC (July 2015). "Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes". American Journal of Human Genetics. 97 (1). ss. 99-110. doi:10.1016/j.ajhg.2015.05.017. PMC 4572501 $2. PMID 26119818. 
  • Rohena L, Kuehn D, Marchegiani S, Higginson JD (April 2011). "Evidence for autosomal dominant inheritance of ablepharon-macrostomia syndrome". American Journal of Medical Genetics. Part A. 155A (4). ss. 850-4. doi:10.1002/ajmg.a.33900. PMID 21595001. 
  • Larumbe J, Villalta P, Velez I (2011). "Clinical variant of ablepharon macrostomia syndrome". Case Reports in Dermatological Medicine. Cilt 2011. s. 593045. doi:10.1155/2011/593045 Özgürce erişilebilir. PMC 3504267 $2. PMID 23198177. 
  • Takenouchi T, Sakamoto Y, Sato H, Suzuki H, Uehara T, Ohsone Y, Kosaki K (December 2018). "Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution". American Journal of Medical Genetics. Part A. 176 (12). ss. 2777-2780. doi:10.1002/ajmg.a.40525. PMID 30450715. 
  • Cruz AA, Quiroz D, Boza T, Wambier SP, Akaishi PS (2020). "Long-Term Results of the Surgical Management of the Upper Eyelids in "Ablepharon"-Macrostomia Syndrome". Ophthalmic Plastic and Reconstructive Surgery. 36 (1). ss. 21-25. doi:10.1097/IOP.0000000000001442. PMID 31373987. 

rarediseases.org

ugent.be

biblio.ugent.be

uniprot.org

web.archive.org