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Year Number of Results
1990 1
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Page 1
Michels syndrome: the first case report from India and review of literature.
Adio AA, Kekunnaya R, Lingappa L. Adio AA, et al. Indian J Ophthalmol. 2014 Sep;62(9):954-8. doi: 10.4103/0301-4738.143946. Indian J Ophthalmol. 2014. PMID: 25370402 Free PMC article. Review.
A 2-year 7-month-old girl born out of a consanguineous marriage, presented at our facility with clinical features characterized by the eyelid triad of blepharophimosis, blepharoptosis and epicanthus inversus in association with hypertelorism, cleft palate and craniosynostosis. Th …
A 2-year 7-month-old girl born out of a consanguineous marriage, presented at our facility with clinical features characterized by the eyeli …
[Michels syndrome].
Sonoda T. Sonoda T. Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):188-9. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11528693 Review. Japanese. No abstract available.
Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)?
Titomanlio L, Bennaceur S, Bremond-Gignac D, Baumann C, Dupuy O, Verloes A. Titomanlio L, et al. Am J Med Genet A. 2005 Sep 1;137A(3):332-5. doi: 10.1002/ajmg.a.30878. Am J Med Genet A. 2005. PMID: 16096999 Review.
We report on a 3-year-old girl with Michels syndrome, a rare condition characterized by craniosynostosis, blepharophimosis, ptosis, epicanthus inversus, cleft lip/palate, abnormal supra-umbilical abdominal wall, and mental deficiency. The phenotypic findings are com …
We report on a 3-year-old girl with Michels syndrome, a rare condition characterized by craniosynostosis, blepharophimosis, pt …
Michels syndrome in a Brazilian girl born to consanguineous parents.
Guion-Almeida ML, Rodini ES. Guion-Almeida ML, et al. Am J Med Genet. 1995 Jul 3;57(3):377-9. doi: 10.1002/ajmg.1320570302. Am J Med Genet. 1995. PMID: 7677137 Review.
We report on a Brazilian girl born to consanguineous parents and presenting with craniosynostosis, telecanthus, blepharophimosis, blepharoptosis, epicanthus inversus, cleft lip and palate, skeletal defects, and hearing loss. This combination of anomalies appears to constitute the …
We report on a Brazilian girl born to consanguineous parents and presenting with craniosynostosis, telecanthus, blepharophimosis, blepharopt …
Anaesthetic management of a patient with Michels syndrome.
Öksüz G, Urfalıoğlu A, Bilal B, Arslan M. Öksüz G, et al. J Clin Anesth. 2017 May;38:20-21. doi: 10.1016/j.jclinane.2017.01.011. Epub 2017 Jan 13. J Clin Anesth. 2017. PMID: 28372666 No abstract available.
The x-ray crystal structure of mannose-binding lectin-associated serine proteinase-3 reveals the structural basis for enzyme inactivity associated with the Carnevale, Mingarelli, Malpuech, and Michels (3MC) syndrome.
Yongqing T, Wilmann PG, Reeve SB, Coetzer TH, Smith AI, Whisstock JC, Pike RN, Wijeyewickrema LC. Yongqing T, et al. J Biol Chem. 2013 Aug 2;288(31):22399-407. doi: 10.1074/jbc.M113.483875. Epub 2013 Jun 21. J Biol Chem. 2013. PMID: 23792966 Free PMC article.
Exploring the genetic basis of 3MC syndrome: Findings in 12 further families.
Urquhart J, Roberts R, de Silva D, Shalev S, Chervinsky E, Nampoothiri S, Sznajer Y, Revencu N, Gunasekera R, Suri M, Ellingford J, Williams S, Bhaskar S, Clayton-Smith J. Urquhart J, et al. Am J Med Genet A. 2016 May;170A(5):1216-24. doi: 10.1002/ajmg.a.37564. Epub 2016 Jan 20. Am J Med Genet A. 2016. PMID: 26789649
Anterior segment anomalies of the eye, clefting and skeletal abnormalities in two sibs of consanguineous parents: Michels syndrome or new syndrome?
al Gazali LI, al Talabani J, Mosawi A, Lytle W. al Gazali LI, et al. Clin Dysmorphol. 1994 Jul;3(3):238-44. Clin Dysmorphol. 1994. PMID: 7981860
We think this constellation of anomalies may represent a previously undescribed syndrome. There are some similarities to Michels syndrome from which it should be differentiated....
We think this constellation of anomalies may represent a previously undescribed syndrome. There are some similarities to Michels s
Three additional cases of the Michels syndrome.
Leal GF, Baptista EV. Leal GF, et al. Am J Med Genet A. 2007 Nov 15;143A(22):2747-50. doi: 10.1002/ajmg.a.32029. Am J Med Genet A. 2007. PMID: 17937425 No abstract available.
17 results