Σύνδρομο αβλεφαρίας - μακροστομίας (Greek Wikipedia)

Analysis of information sources in references of the Wikipedia article "Σύνδρομο αβλεφαρίας - μακροστομίας" in Greek language version.

refsWebsite

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12nih.gov

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9doi.org

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3rarediseases.org

5,181^st place

2,675^th place

1uniprot.org

5,673^rd place

low place

1archive.org

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1globalgenes.org

low place

1arizona.edu

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archive.org

«Human Dermo-1 has attributes similar to twist in early bone development». Bone 27 (5): 591–602. November 2000. doi:10.1016/S8756-3282(00)00380-X. PMID 11062344. https://archive.org/details/sim_bone_2000-11_27_5/page/591.

arizona.edu

disorders.eyes.arizona.edu

«Ablepharon-Macrostomia Syndrome | Hereditary Ocular Diseases». disorders.eyes.arizona.edu. Ανακτήθηκε στις 13 Δεκεμβρίου 2019.

doi.org

dx.doi.org

«Laryngo-tracheal stenosis in a woman with ablepharon macrostomia syndrome». BMC Pulmonary Medicine 19 (1): 163. August 2019. doi:10.1186/s12890-019-0921-8. PMID 31462237.
«Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview». American Journal of Medical Genetics. Part A 170 (8): 1989–2001. August 2016. doi:10.1002/ajmg.a.37757. PMID 27196381.
«TWIST family of basic helix-loop-helix transcription factors mediate human mesenchymal stem cell growth and commitment». Stem Cells 27 (10): 2457–68. October 2009. doi:10.1002/stem.181. PMID 19609939.
«Human Dermo-1 has attributes similar to twist in early bone development». Bone 27 (5): 591–602. November 2000. doi:10.1016/S8756-3282(00)00380-X. PMID 11062344. https://archive.org/details/sim_bone_2000-11_27_5/page/591.
«Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes». American Journal of Human Genetics 97 (1): 99–110. July 2015. doi:10.1016/j.ajhg.2015.05.017. PMID 26119818.
«Evidence for autosomal dominant inheritance of ablepharon-macrostomia syndrome». American Journal of Medical Genetics. Part A 155A (4): 850–4. April 2011. doi:10.1002/ajmg.a.33900. PMID 21595001.
«Clinical variant of ablepharon macrostomia syndrome». Case Reports in Dermatological Medicine 2011: 593045. 2011. doi:10.1155/2011/593045. PMID 23198177.
«Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution». American Journal of Medical Genetics. Part A 176 (12): 2777–2780. December 2018. doi:10.1002/ajmg.a.40525. PMID 30450715.
«Long-Term Results of the Surgical Management of the Upper Eyelids in "Ablepharon"-Macrostomia Syndrome». Ophthalmic Plastic and Reconstructive Surgery 36 (1): 21–25. 2020. doi:10.1097/IOP.0000000000001442. PMID 31373987.

globalgenes.org

«Ablepharon macrostomia syndrome». Global Genes (στα Αγγλικά). Ανακτήθηκε στις 13 Δεκεμβρίου 2019.

nih.gov

ncbi.nlm.nih.gov

«Laryngo-tracheal stenosis in a woman with ablepharon macrostomia syndrome». BMC Pulmonary Medicine 19 (1): 163. August 2019. doi:10.1186/s12890-019-0921-8. PMID 31462237.
«Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview». American Journal of Medical Genetics. Part A 170 (8): 1989–2001. August 2016. doi:10.1002/ajmg.a.37757. PMID 27196381.
«TWIST family of basic helix-loop-helix transcription factors mediate human mesenchymal stem cell growth and commitment». Stem Cells 27 (10): 2457–68. October 2009. doi:10.1002/stem.181. PMID 19609939.
«Human Dermo-1 has attributes similar to twist in early bone development». Bone 27 (5): 591–602. November 2000. doi:10.1016/S8756-3282(00)00380-X. PMID 11062344. https://archive.org/details/sim_bone_2000-11_27_5/page/591.
«Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes». American Journal of Human Genetics 97 (1): 99–110. July 2015. doi:10.1016/j.ajhg.2015.05.017. PMID 26119818.
«Evidence for autosomal dominant inheritance of ablepharon-macrostomia syndrome». American Journal of Medical Genetics. Part A 155A (4): 850–4. April 2011. doi:10.1002/ajmg.a.33900. PMID 21595001.
«Clinical variant of ablepharon macrostomia syndrome». Case Reports in Dermatological Medicine 2011: 593045. 2011. doi:10.1155/2011/593045. PMID 23198177.
«Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution». American Journal of Medical Genetics. Part A 176 (12): 2777–2780. December 2018. doi:10.1002/ajmg.a.40525. PMID 30450715.
«Long-Term Results of the Surgical Management of the Upper Eyelids in "Ablepharon"-Macrostomia Syndrome». Ophthalmic Plastic and Reconstructive Surgery 36 (1): 21–25. 2020. doi:10.1097/IOP.0000000000001442. PMID 31373987.

pubmedcentral.nih.gov

«Laryngo-tracheal stenosis in a woman with ablepharon macrostomia syndrome». BMC Pulmonary Medicine 19 (1): 163. August 2019. doi:10.1186/s12890-019-0921-8. PMID 31462237.
«Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes». American Journal of Human Genetics 97 (1): 99–110. July 2015. doi:10.1016/j.ajhg.2015.05.017. PMID 26119818.
«Clinical variant of ablepharon macrostomia syndrome». Case Reports in Dermatological Medicine 2011: 593045. 2011. doi:10.1155/2011/593045. PMID 23198177.

rarediseases.org

https://rarediseases.org/rare-diseases/ablepharon-macrostomia-syndrome/
«Ablepharon-Macrostomia Syndrome». NORD (National Organization for Rare Disorders) (στα Αγγλικά). Ανακτήθηκε στις 7 Νοεμβρίου 2019.
«Ablepharon-Macrostomia Syndrome». NORD (National Organization for Rare Disorders) (στα Αγγλικά). Ανακτήθηκε στις 19 Απριλίου 2019.

uniprot.org

«TWIST2 - Twist-related protein 2 - Homo sapiens (Human) - TWIST2 gene & protein». www.uniprot.org. Ανακτήθηκε στις 25 Ιανουαρίου 2019.